It’s well known that patients may avoid colorectal cancer (CRC) screening for fear of pain, embarrassment, lack of awareness of the importance of CRC screening, misperceptions about screening effectiveness, or lack of resources.^1-5 But how well do physicians address these concerns and misgivings to help patients make a different choice? Equipped with an understanding of patients’ perspectives, physicians could reframe their counsel and likely increase the rate of CRC screening in their practices.

We conducted 3 in-depth focus group sessions to draw out details of patients’ concerns regarding CRC screening and to solicit their thoughts on how physicians could address and even resolve these issues.

Methods

Patients randomly selected for focus groups

Our initial pool of candidates was approximately 500 patients who were at least 50 years old and had been seen at our Family Medicine Center during the prior 12 months. We stratified this population into 4 ethnic/gender groups: African American males, African American females, Caucasian males, and Caucasian females. Sixty percent of the patients were female; 50% were African American, 48% were Caucasian, and 2% were Latino.

After creating a database that listed these patients by number and concealed their identities except for race and gender, we sequentially selected participants for groups of 8 patients (2 drawn from each of the ethnic/gender groups). Our random selection process avoided such biases as choosing patients by name or age or whether they had been seen more recently.

The first group of 8 patients received a letter asking them to participate in the project. The invitation included the offer of an honorarium. Invitations were mailed every 10 days until we had recruited 4 to 6 volunteers from each ethnic/gender group. After enlisting 20 participants, we were finally able to assemble 15 of them into 3 groups roughly balanced by gender and race. We also had 4 stand-by groups of 8 patients, in case any of the original participants chose to leave the study. All patients who volunteered were assured that if they chose not to participate, their continuing care would be unaffected.

Sessions thoroughly explored patients’ issues

The same experienced focus group leader (Caucasian, female) led all 3 sessions, adhering to a widely accepted structure for focus groups.⁶ This facilitator was familiar with the common barriers to CRC screening, as cited in the medical literature.^1,7-9 She first asked an open-ended question and then probed specifically to determine why some participants or their family members had not received CRC screening. She solicited input from all attendees, sought clarification on points of view, and polled participants about their reactions to statements made by other members of the group. Participants were encouraged to discuss their experiences and their talks with family physicians about CRC screening.

How the sessions unfolded

After receiving instruction about the purpose of the session, participants viewed 2 patient-education videotapes that discussed CRC screening in an average-risk population. They also read a brief patient-education booklet about CRC screening before the facilitator engaged them in dialogue.

The videotapes—”Colon Cancer Screening: What You Need to Know,” produced by Harris and Pignone¹⁰; and “Screening for Colorectal Cancer: An Easy Step to Save Your Life,” produced by the Foundation for Digestive Health and Nutrition¹¹—gave all focus group members a common understanding of the rationale and importance of CRC screening. We chose these 2 tapes because of their widespread use in clinical practice, complementary messages, easy-to-read graphics, content aimed at a lay audience, good sound quality, and recommendations that followed the American Cancer Society guidelines for average-risk patients.¹²

After participants contemplated the information they had viewed and read, the facilitator asked, “What suggestions would you give to a doctor to encourage a patient to be screened for colorectal cancer?” This began approximately 1 hour of feedback from the focus group members.

All 3 sessions were videotaped, but due to technical problems, video was available for only 2 groups. All 3 sessions were audiotaped.

Data analyzed promptly and rigorously

We systematically gathered and analyzed the qualitative data. The focus group leader and Dr. Goldsmith (principle investigator) together categorized the data by themes, which were structured so as to reduce overlapping. Disagreements on categorization were resolved by referring to transcripts and videos. We reassembled this information using an axial coding approach.

Though body language, gestures, and voice tone are important indicators of intent in communication, we did not classify data according to these non-verbal cues. However, we did note such cues during review of the videotapes, and also took into account the frequency and extensiveness of remarks (eg, how many people made a similar comment). Rapid transcription of the sessions and prompt review of the transcripts minimized the inaccurate interpretation of data that can occur when review is delayed.

We used 2 means of assessing the educational level of attendees. Patients in the first 2 focus groups were given the Rapid Estimate of Adult Literacy in Medicine (REALM) test,¹³ and members of the third group were asked for the highest grade level they completed in school.

Results

The average age of participants was 56 years. Few men volunteered to begin with. So to replace patients who dropped out on short notice, only women were immediately available from the standby groups. Thus, 13 participants were women and 2 were men. Two were covered by Medicaid, 6 by Medicare, 5 had private insurance, and 2 had no insurance. Eleven of the insured participants reported their insurance would pay for CRC screening.

Seven participants were African American, 7 were Caucasian, and 1 was Latino. Each focus group had approximately an equal mix of subjects by ethnic group, but only 2 groups had an uninsured subject. One man was part of each of the first 2 groups.

Reasons for low screening rate

Of the 15 subjects, 5 (at least 1 in each group) had undergone some type of CRC screening: colonoscopy (3), flexible sigmoidoscopy (1), or fecal occult blood testing (1).

Of the 10 subjects not screened, medical records lacked evidence that their family physicians had discussed CRC screening. The facilitator asked them why they had not been screened. The primary reason given was failure of their physicians to recommend screening; although on further inquiry, 1 patient said, “If the doctor did mention it [CRC screening], it was done in a fashion that didn’t impress me enough to remember.” Several other unscreened patients nodded in agreement. Other reasons given were costs, psychological issues (fear and embarrassment), belief that screening was unnecessary, and difficult logistics (time off and transportation) (TABLE).

Patients offered 7 suggestions for physicians

Our focus-group participants offered 7 recommendations for addressing issues that can hinder patients’ decisions to be screened.

1. Do not rely on educational materials alone. Though participants thought videotapes and written information were important, all of them strongly stated that the primary endorsement for CRC screening must come from their physicians. All 3 groups agreed that videos and written materials were helpful supplements to a physician’s advice.
2. Address fear of pain. Anticipate patients’ fear of pain from colonoscopy, and explain what is done to minimize discomfort.
3. Cite costs of tests. A common theme was the lack of knowledge about the costs of the CRC screening options. Let patients know they can opt for less expensive screening.
4. Discuss pros and cons of each test. A strongly held belief was that colonoscopy is the best, if not the only, test to have. If a physician had frankly discussed both costs and benefits of the options, patients might have been reassured enough to proceed with a screening procedure, even if it was not colonoscopy.
5. Challenge the “worst case” mindset. Focus group participants feared that if cancer is found, it may not be curable. They urged physicians to expect this apprehension and to counter it with a realistic assessment.
6. Emphasize safety of testing. Several participants who had not been screened feared being disabled by the test itself and said physicians should spend time to counter this belief.
7. Elicit concerns about logistics. Some group members had avoided colonoscopy because it required taking time off from work, which they could not afford to do. The solution is to match the screening test to a patient’s needs and preferences.

Find a way to address the above concerns. Participants suggested that if a doctor’s time is limited, then someone else in the office (a nurse or even a clinic staff member) ought to speak with patients—preferably someone who has undergone endoscopy screening and can talk about what it was like in “real terms we can understand.”

TABLE
How to improve CRC screening rates—focus group recommendations by theme

Discussion

Many factors keep the CRC screening rate lower than it ought to be. Physicians do not uniformly follow screening guidelines.^7,14 Limited practice time, difficulty in identifying patients needing preventive services, and little financial incentive to provide preventive care in the ambulatory setting all hinder the effort to increase screening. And even when CRC screening is advised, patients are often reluctant to comply because of the reasons already discussed.

Effective communication between patients and physicians therefore becomes ever more important.¹⁵ Informed decision making about cancer screening is difficult for many patients to grasp, as evidenced by inaccuracies, distortions, and oversimplification of cancer-related beliefs.¹⁶ Patient-centered communications can give the physician a clearer understanding of the patient’s perspective and influence health-seeking behavior.¹⁷

The suggestions offered by this study’s participants can help family physicians improve communication about CRC screening, which should encourage more patients to opt for screening.

Participants unanimously recommended that physicians speak directly to well-known patient concerns about endoscopy, even if the patient does not bring them up during a visit.

Though participants spoke mainly about ways physicians could improve doctor/patient communications about CRC screening, they also expressed high regard for videotapes in patient education. The videos they watched taught them that CRC could be prevented or cured if discovered early, and they felt this message was not conveyed by their physicians. The value of video-based patient education observed in our study is consistent with the results of other studies.^18,19 Given that primary care physicians often have insufficient time to educate patients fully, using a videotape may be well received by patients and prove an efficient way to augment advice about CRC screening.

Shared decision making has many advocates these days, but the focus group population in this context preferred that physicians be more assertive in promoting CRC screening. Patients may more readily comply with screening recommendations if physicians convey a message that is persuasive rather than factual but emotionally neutral.

This study confirmed the findings of others: fear, lack of information, cost of testing, and the physician’s failure to recommend CRC screening are all potential barriers to increasing screening rates.^1,2,20,21 The study also showed the importance of physicians asking patients to clarify the origin of their fears about CRC testing.

Of the 10 focus group members who had not been screened for CRC, fully half said they would now consider screening given what they learned in the focus group. This encouraging finding implies that giving patients accurate information can improve screening rates. The remaining members of the focus group were still uncertain as to whether they would accept CRC screening if offered, and they did not give reasons for their indecision.

Limitations

The focus group participants may have been more assertive than most of the general population, given their willingness to freely express their feelings in front of others.

A sample of convenience was selected and most participants were women, despite efforts to recruit an equal number of men and women. Thus, our findings should be interpreted with caution for the male population.

The education level was higher than that of our urban, family practice clinic population. Thirteen of the 15 attendees had some type of insurance (Medicare, Medicaid, or private insurance). Of the insured, 11 had insurance coverage for CRC screening. Lack of availability of insurance coverage for CRC screening undoubtedly affects purchasing behavior for CRC screening, but we did not specifically separate comments of the insured from the uninsured. We do not have data on response of the subjects by ethnic group or sex.

Although the sample size was small, comments about the inadequacy of doctor/patient communications that emerged in each of the focus groups were remarkably similar.

Acknowledgements

This study is part of ongoing research at the university of Arkansas for Medical Sciences (UAMS), Department of Family and Preventive Medicine, and the uAMS, Arkansas Cancer Research Center, Division of Cancer Control. We thank the Division of Cancer Control for its technical support. We are also grateful for the assistance of Diane Metzler, university of Arkansas at little Rock, Institute for Economic Advancement, Division of Survey Research, who led the focus groups.

Correspondence
Geoffrey Goldsmith, MD, MPH, uAMS Department of Family and Preventive Medicine, 4301 W. Markham St., #530, little Rock, AR 72205-7199; ggoldsmith@uams.edu

It’s well known that patients may avoid colorectal cancer (CRC) screening for fear of pain, embarrassment, lack of awareness of the importance of CRC screening, misperceptions about screening effectiveness, or lack of resources.^1-5 But how well do physicians address these concerns and misgivings to help patients make a different choice? Equipped with an understanding of patients’ perspectives, physicians could reframe their counsel and likely increase the rate of CRC screening in their practices.

We conducted 3 in-depth focus group sessions to draw out details of patients’ concerns regarding CRC screening and to solicit their thoughts on how physicians could address and even resolve these issues.

Methods

Patients randomly selected for focus groups

Our initial pool of candidates was approximately 500 patients who were at least 50 years old and had been seen at our Family Medicine Center during the prior 12 months. We stratified this population into 4 ethnic/gender groups: African American males, African American females, Caucasian males, and Caucasian females. Sixty percent of the patients were female; 50% were African American, 48% were Caucasian, and 2% were Latino.

After creating a database that listed these patients by number and concealed their identities except for race and gender, we sequentially selected participants for groups of 8 patients (2 drawn from each of the ethnic/gender groups). Our random selection process avoided such biases as choosing patients by name or age or whether they had been seen more recently.

The first group of 8 patients received a letter asking them to participate in the project. The invitation included the offer of an honorarium. Invitations were mailed every 10 days until we had recruited 4 to 6 volunteers from each ethnic/gender group. After enlisting 20 participants, we were finally able to assemble 15 of them into 3 groups roughly balanced by gender and race. We also had 4 stand-by groups of 8 patients, in case any of the original participants chose to leave the study. All patients who volunteered were assured that if they chose not to participate, their continuing care would be unaffected.

Sessions thoroughly explored patients’ issues

The same experienced focus group leader (Caucasian, female) led all 3 sessions, adhering to a widely accepted structure for focus groups.⁶ This facilitator was familiar with the common barriers to CRC screening, as cited in the medical literature.^1,7-9 She first asked an open-ended question and then probed specifically to determine why some participants or their family members had not received CRC screening. She solicited input from all attendees, sought clarification on points of view, and polled participants about their reactions to statements made by other members of the group. Participants were encouraged to discuss their experiences and their talks with family physicians about CRC screening.

How the sessions unfolded

After receiving instruction about the purpose of the session, participants viewed 2 patient-education videotapes that discussed CRC screening in an average-risk population. They also read a brief patient-education booklet about CRC screening before the facilitator engaged them in dialogue.

The videotapes—”Colon Cancer Screening: What You Need to Know,” produced by Harris and Pignone¹⁰; and “Screening for Colorectal Cancer: An Easy Step to Save Your Life,” produced by the Foundation for Digestive Health and Nutrition¹¹—gave all focus group members a common understanding of the rationale and importance of CRC screening. We chose these 2 tapes because of their widespread use in clinical practice, complementary messages, easy-to-read graphics, content aimed at a lay audience, good sound quality, and recommendations that followed the American Cancer Society guidelines for average-risk patients.¹²

After participants contemplated the information they had viewed and read, the facilitator asked, “What suggestions would you give to a doctor to encourage a patient to be screened for colorectal cancer?” This began approximately 1 hour of feedback from the focus group members.

All 3 sessions were videotaped, but due to technical problems, video was available for only 2 groups. All 3 sessions were audiotaped.

Data analyzed promptly and rigorously

We systematically gathered and analyzed the qualitative data. The focus group leader and Dr. Goldsmith (principle investigator) together categorized the data by themes, which were structured so as to reduce overlapping. Disagreements on categorization were resolved by referring to transcripts and videos. We reassembled this information using an axial coding approach.

Though body language, gestures, and voice tone are important indicators of intent in communication, we did not classify data according to these non-verbal cues. However, we did note such cues during review of the videotapes, and also took into account the frequency and extensiveness of remarks (eg, how many people made a similar comment). Rapid transcription of the sessions and prompt review of the transcripts minimized the inaccurate interpretation of data that can occur when review is delayed.

We used 2 means of assessing the educational level of attendees. Patients in the first 2 focus groups were given the Rapid Estimate of Adult Literacy in Medicine (REALM) test,¹³ and members of the third group were asked for the highest grade level they completed in school.

Results

The average age of participants was 56 years. Few men volunteered to begin with. So to replace patients who dropped out on short notice, only women were immediately available from the standby groups. Thus, 13 participants were women and 2 were men. Two were covered by Medicaid, 6 by Medicare, 5 had private insurance, and 2 had no insurance. Eleven of the insured participants reported their insurance would pay for CRC screening.

Seven participants were African American, 7 were Caucasian, and 1 was Latino. Each focus group had approximately an equal mix of subjects by ethnic group, but only 2 groups had an uninsured subject. One man was part of each of the first 2 groups.

Reasons for low screening rate

Of the 15 subjects, 5 (at least 1 in each group) had undergone some type of CRC screening: colonoscopy (3), flexible sigmoidoscopy (1), or fecal occult blood testing (1).

Of the 10 subjects not screened, medical records lacked evidence that their family physicians had discussed CRC screening. The facilitator asked them why they had not been screened. The primary reason given was failure of their physicians to recommend screening; although on further inquiry, 1 patient said, “If the doctor did mention it [CRC screening], it was done in a fashion that didn’t impress me enough to remember.” Several other unscreened patients nodded in agreement. Other reasons given were costs, psychological issues (fear and embarrassment), belief that screening was unnecessary, and difficult logistics (time off and transportation) (TABLE).

Patients offered 7 suggestions for physicians

Our focus-group participants offered 7 recommendations for addressing issues that can hinder patients’ decisions to be screened.

1. Do not rely on educational materials alone. Though participants thought videotapes and written information were important, all of them strongly stated that the primary endorsement for CRC screening must come from their physicians. All 3 groups agreed that videos and written materials were helpful supplements to a physician’s advice.
2. Address fear of pain. Anticipate patients’ fear of pain from colonoscopy, and explain what is done to minimize discomfort.
3. Cite costs of tests. A common theme was the lack of knowledge about the costs of the CRC screening options. Let patients know they can opt for less expensive screening.
4. Discuss pros and cons of each test. A strongly held belief was that colonoscopy is the best, if not the only, test to have. If a physician had frankly discussed both costs and benefits of the options, patients might have been reassured enough to proceed with a screening procedure, even if it was not colonoscopy.
5. Challenge the “worst case” mindset. Focus group participants feared that if cancer is found, it may not be curable. They urged physicians to expect this apprehension and to counter it with a realistic assessment.
6. Emphasize safety of testing. Several participants who had not been screened feared being disabled by the test itself and said physicians should spend time to counter this belief.
7. Elicit concerns about logistics. Some group members had avoided colonoscopy because it required taking time off from work, which they could not afford to do. The solution is to match the screening test to a patient’s needs and preferences.

Find a way to address the above concerns. Participants suggested that if a doctor’s time is limited, then someone else in the office (a nurse or even a clinic staff member) ought to speak with patients—preferably someone who has undergone endoscopy screening and can talk about what it was like in “real terms we can understand.”

TABLE
How to improve CRC screening rates—focus group recommendations by theme

Discussion

Many factors keep the CRC screening rate lower than it ought to be. Physicians do not uniformly follow screening guidelines.^7,14 Limited practice time, difficulty in identifying patients needing preventive services, and little financial incentive to provide preventive care in the ambulatory setting all hinder the effort to increase screening. And even when CRC screening is advised, patients are often reluctant to comply because of the reasons already discussed.

Effective communication between patients and physicians therefore becomes ever more important.¹⁵ Informed decision making about cancer screening is difficult for many patients to grasp, as evidenced by inaccuracies, distortions, and oversimplification of cancer-related beliefs.¹⁶ Patient-centered communications can give the physician a clearer understanding of the patient’s perspective and influence health-seeking behavior.¹⁷

The suggestions offered by this study’s participants can help family physicians improve communication about CRC screening, which should encourage more patients to opt for screening.

Participants unanimously recommended that physicians speak directly to well-known patient concerns about endoscopy, even if the patient does not bring them up during a visit.

Though participants spoke mainly about ways physicians could improve doctor/patient communications about CRC screening, they also expressed high regard for videotapes in patient education. The videos they watched taught them that CRC could be prevented or cured if discovered early, and they felt this message was not conveyed by their physicians. The value of video-based patient education observed in our study is consistent with the results of other studies.^18,19 Given that primary care physicians often have insufficient time to educate patients fully, using a videotape may be well received by patients and prove an efficient way to augment advice about CRC screening.

Shared decision making has many advocates these days, but the focus group population in this context preferred that physicians be more assertive in promoting CRC screening. Patients may more readily comply with screening recommendations if physicians convey a message that is persuasive rather than factual but emotionally neutral.

This study confirmed the findings of others: fear, lack of information, cost of testing, and the physician’s failure to recommend CRC screening are all potential barriers to increasing screening rates.^1,2,20,21 The study also showed the importance of physicians asking patients to clarify the origin of their fears about CRC testing.

Of the 10 focus group members who had not been screened for CRC, fully half said they would now consider screening given what they learned in the focus group. This encouraging finding implies that giving patients accurate information can improve screening rates. The remaining members of the focus group were still uncertain as to whether they would accept CRC screening if offered, and they did not give reasons for their indecision.

Limitations

The focus group participants may have been more assertive than most of the general population, given their willingness to freely express their feelings in front of others.

A sample of convenience was selected and most participants were women, despite efforts to recruit an equal number of men and women. Thus, our findings should be interpreted with caution for the male population.

The education level was higher than that of our urban, family practice clinic population. Thirteen of the 15 attendees had some type of insurance (Medicare, Medicaid, or private insurance). Of the insured, 11 had insurance coverage for CRC screening. Lack of availability of insurance coverage for CRC screening undoubtedly affects purchasing behavior for CRC screening, but we did not specifically separate comments of the insured from the uninsured. We do not have data on response of the subjects by ethnic group or sex.

Although the sample size was small, comments about the inadequacy of doctor/patient communications that emerged in each of the focus groups were remarkably similar.

Acknowledgements

This study is part of ongoing research at the university of Arkansas for Medical Sciences (UAMS), Department of Family and Preventive Medicine, and the uAMS, Arkansas Cancer Research Center, Division of Cancer Control. We thank the Division of Cancer Control for its technical support. We are also grateful for the assistance of Diane Metzler, university of Arkansas at little Rock, Institute for Economic Advancement, Division of Survey Research, who led the focus groups.

Correspondence
Geoffrey Goldsmith, MD, MPH, uAMS Department of Family and Preventive Medicine, 4301 W. Markham St., #530, little Rock, AR 72205-7199; ggoldsmith@uams.edu

It’s well known that patients may avoid colorectal cancer (CRC) screening for fear of pain, embarrassment, lack of awareness of the importance of CRC screening, misperceptions about screening effectiveness, or lack of resources.^1-5 But how well do physicians address these concerns and misgivings to help patients make a different choice? Equipped with an understanding of patients’ perspectives, physicians could reframe their counsel and likely increase the rate of CRC screening in their practices.

We conducted 3 in-depth focus group sessions to draw out details of patients’ concerns regarding CRC screening and to solicit their thoughts on how physicians could address and even resolve these issues.

Methods

Patients randomly selected for focus groups

Our initial pool of candidates was approximately 500 patients who were at least 50 years old and had been seen at our Family Medicine Center during the prior 12 months. We stratified this population into 4 ethnic/gender groups: African American males, African American females, Caucasian males, and Caucasian females. Sixty percent of the patients were female; 50% were African American, 48% were Caucasian, and 2% were Latino.

After creating a database that listed these patients by number and concealed their identities except for race and gender, we sequentially selected participants for groups of 8 patients (2 drawn from each of the ethnic/gender groups). Our random selection process avoided such biases as choosing patients by name or age or whether they had been seen more recently.

The first group of 8 patients received a letter asking them to participate in the project. The invitation included the offer of an honorarium. Invitations were mailed every 10 days until we had recruited 4 to 6 volunteers from each ethnic/gender group. After enlisting 20 participants, we were finally able to assemble 15 of them into 3 groups roughly balanced by gender and race. We also had 4 stand-by groups of 8 patients, in case any of the original participants chose to leave the study. All patients who volunteered were assured that if they chose not to participate, their continuing care would be unaffected.

Sessions thoroughly explored patients’ issues

The same experienced focus group leader (Caucasian, female) led all 3 sessions, adhering to a widely accepted structure for focus groups.⁶ This facilitator was familiar with the common barriers to CRC screening, as cited in the medical literature.^1,7-9 She first asked an open-ended question and then probed specifically to determine why some participants or their family members had not received CRC screening. She solicited input from all attendees, sought clarification on points of view, and polled participants about their reactions to statements made by other members of the group. Participants were encouraged to discuss their experiences and their talks with family physicians about CRC screening.

How the sessions unfolded

After receiving instruction about the purpose of the session, participants viewed 2 patient-education videotapes that discussed CRC screening in an average-risk population. They also read a brief patient-education booklet about CRC screening before the facilitator engaged them in dialogue.

The videotapes—”Colon Cancer Screening: What You Need to Know,” produced by Harris and Pignone¹⁰; and “Screening for Colorectal Cancer: An Easy Step to Save Your Life,” produced by the Foundation for Digestive Health and Nutrition¹¹—gave all focus group members a common understanding of the rationale and importance of CRC screening. We chose these 2 tapes because of their widespread use in clinical practice, complementary messages, easy-to-read graphics, content aimed at a lay audience, good sound quality, and recommendations that followed the American Cancer Society guidelines for average-risk patients.¹²

After participants contemplated the information they had viewed and read, the facilitator asked, “What suggestions would you give to a doctor to encourage a patient to be screened for colorectal cancer?” This began approximately 1 hour of feedback from the focus group members.

All 3 sessions were videotaped, but due to technical problems, video was available for only 2 groups. All 3 sessions were audiotaped.

Data analyzed promptly and rigorously

We systematically gathered and analyzed the qualitative data. The focus group leader and Dr. Goldsmith (principle investigator) together categorized the data by themes, which were structured so as to reduce overlapping. Disagreements on categorization were resolved by referring to transcripts and videos. We reassembled this information using an axial coding approach.

Though body language, gestures, and voice tone are important indicators of intent in communication, we did not classify data according to these non-verbal cues. However, we did note such cues during review of the videotapes, and also took into account the frequency and extensiveness of remarks (eg, how many people made a similar comment). Rapid transcription of the sessions and prompt review of the transcripts minimized the inaccurate interpretation of data that can occur when review is delayed.

We used 2 means of assessing the educational level of attendees. Patients in the first 2 focus groups were given the Rapid Estimate of Adult Literacy in Medicine (REALM) test,¹³ and members of the third group were asked for the highest grade level they completed in school.

Results

The average age of participants was 56 years. Few men volunteered to begin with. So to replace patients who dropped out on short notice, only women were immediately available from the standby groups. Thus, 13 participants were women and 2 were men. Two were covered by Medicaid, 6 by Medicare, 5 had private insurance, and 2 had no insurance. Eleven of the insured participants reported their insurance would pay for CRC screening.

Seven participants were African American, 7 were Caucasian, and 1 was Latino. Each focus group had approximately an equal mix of subjects by ethnic group, but only 2 groups had an uninsured subject. One man was part of each of the first 2 groups.

Reasons for low screening rate

Of the 15 subjects, 5 (at least 1 in each group) had undergone some type of CRC screening: colonoscopy (3), flexible sigmoidoscopy (1), or fecal occult blood testing (1).

Of the 10 subjects not screened, medical records lacked evidence that their family physicians had discussed CRC screening. The facilitator asked them why they had not been screened. The primary reason given was failure of their physicians to recommend screening; although on further inquiry, 1 patient said, “If the doctor did mention it [CRC screening], it was done in a fashion that didn’t impress me enough to remember.” Several other unscreened patients nodded in agreement. Other reasons given were costs, psychological issues (fear and embarrassment), belief that screening was unnecessary, and difficult logistics (time off and transportation) (TABLE).

Patients offered 7 suggestions for physicians

Our focus-group participants offered 7 recommendations for addressing issues that can hinder patients’ decisions to be screened.

1. Do not rely on educational materials alone. Though participants thought videotapes and written information were important, all of them strongly stated that the primary endorsement for CRC screening must come from their physicians. All 3 groups agreed that videos and written materials were helpful supplements to a physician’s advice.
2. Address fear of pain. Anticipate patients’ fear of pain from colonoscopy, and explain what is done to minimize discomfort.
3. Cite costs of tests. A common theme was the lack of knowledge about the costs of the CRC screening options. Let patients know they can opt for less expensive screening.
4. Discuss pros and cons of each test. A strongly held belief was that colonoscopy is the best, if not the only, test to have. If a physician had frankly discussed both costs and benefits of the options, patients might have been reassured enough to proceed with a screening procedure, even if it was not colonoscopy.
5. Challenge the “worst case” mindset. Focus group participants feared that if cancer is found, it may not be curable. They urged physicians to expect this apprehension and to counter it with a realistic assessment.
6. Emphasize safety of testing. Several participants who had not been screened feared being disabled by the test itself and said physicians should spend time to counter this belief.
7. Elicit concerns about logistics. Some group members had avoided colonoscopy because it required taking time off from work, which they could not afford to do. The solution is to match the screening test to a patient’s needs and preferences.

Find a way to address the above concerns. Participants suggested that if a doctor’s time is limited, then someone else in the office (a nurse or even a clinic staff member) ought to speak with patients—preferably someone who has undergone endoscopy screening and can talk about what it was like in “real terms we can understand.”

TABLE
How to improve CRC screening rates—focus group recommendations by theme

Discussion

Many factors keep the CRC screening rate lower than it ought to be. Physicians do not uniformly follow screening guidelines.^7,14 Limited practice time, difficulty in identifying patients needing preventive services, and little financial incentive to provide preventive care in the ambulatory setting all hinder the effort to increase screening. And even when CRC screening is advised, patients are often reluctant to comply because of the reasons already discussed.

Effective communication between patients and physicians therefore becomes ever more important.¹⁵ Informed decision making about cancer screening is difficult for many patients to grasp, as evidenced by inaccuracies, distortions, and oversimplification of cancer-related beliefs.¹⁶ Patient-centered communications can give the physician a clearer understanding of the patient’s perspective and influence health-seeking behavior.¹⁷

The suggestions offered by this study’s participants can help family physicians improve communication about CRC screening, which should encourage more patients to opt for screening.

Participants unanimously recommended that physicians speak directly to well-known patient concerns about endoscopy, even if the patient does not bring them up during a visit.

Though participants spoke mainly about ways physicians could improve doctor/patient communications about CRC screening, they also expressed high regard for videotapes in patient education. The videos they watched taught them that CRC could be prevented or cured if discovered early, and they felt this message was not conveyed by their physicians. The value of video-based patient education observed in our study is consistent with the results of other studies.^18,19 Given that primary care physicians often have insufficient time to educate patients fully, using a videotape may be well received by patients and prove an efficient way to augment advice about CRC screening.

Shared decision making has many advocates these days, but the focus group population in this context preferred that physicians be more assertive in promoting CRC screening. Patients may more readily comply with screening recommendations if physicians convey a message that is persuasive rather than factual but emotionally neutral.

This study confirmed the findings of others: fear, lack of information, cost of testing, and the physician’s failure to recommend CRC screening are all potential barriers to increasing screening rates.^1,2,20,21 The study also showed the importance of physicians asking patients to clarify the origin of their fears about CRC testing.

Of the 10 focus group members who had not been screened for CRC, fully half said they would now consider screening given what they learned in the focus group. This encouraging finding implies that giving patients accurate information can improve screening rates. The remaining members of the focus group were still uncertain as to whether they would accept CRC screening if offered, and they did not give reasons for their indecision.

Limitations

The focus group participants may have been more assertive than most of the general population, given their willingness to freely express their feelings in front of others.

A sample of convenience was selected and most participants were women, despite efforts to recruit an equal number of men and women. Thus, our findings should be interpreted with caution for the male population.

The education level was higher than that of our urban, family practice clinic population. Thirteen of the 15 attendees had some type of insurance (Medicare, Medicaid, or private insurance). Of the insured, 11 had insurance coverage for CRC screening. Lack of availability of insurance coverage for CRC screening undoubtedly affects purchasing behavior for CRC screening, but we did not specifically separate comments of the insured from the uninsured. We do not have data on response of the subjects by ethnic group or sex.

Although the sample size was small, comments about the inadequacy of doctor/patient communications that emerged in each of the focus groups were remarkably similar.

Acknowledgements

This study is part of ongoing research at the university of Arkansas for Medical Sciences (UAMS), Department of Family and Preventive Medicine, and the uAMS, Arkansas Cancer Research Center, Division of Cancer Control. We thank the Division of Cancer Control for its technical support. We are also grateful for the assistance of Diane Metzler, university of Arkansas at little Rock, Institute for Economic Advancement, Division of Survey Research, who led the focus groups.

Correspondence
Geoffrey Goldsmith, MD, MPH, uAMS Department of Family and Preventive Medicine, 4301 W. Markham St., #530, little Rock, AR 72205-7199; ggoldsmith@uams.edu

Not enough time and too many potential tests to do. This is the problem faced daily by family physicians. We want to practice up-to-date preventive medicine, but there’s little time to analyze the latest studies. Thankfully, we can rely on the United States Preventive Services Task Force, the organization with the most rigorous evidence-based approach, to do the legwork for us.¹

Last year, and in the early part of this year, the Task Force issued a number of recommendations on topics ranging from hypertension screening to screening for illicit drug use. (See TABLE 1 for a breakdown of the 5 categories of recommendations.)

While some of these recommendations (TABLE 2) were reaffirmations of past recommendations, others included some changes.

The Task Force has:

• dropped the age for routine screening for Chlamydia in sexually active women from 25 years and younger to 24 and younger.
• added a recommendation against the use of aspirin or other nonsteroidal anti-inflammatory drugs (NSAIDs) to prevent colorectal cancer (CRC).
• changed its recommendation on screening for carotid artery stenosis. In 1996, the Task Force noted that the evidence was insufficient to make a recommendation; in 2007 it recommended against such routine screening.
• added recommendations on counseling patients about drinking and driving, as well as on screening for illicit drug use. In both cases, the Task Force says the evidence is insufficient to recommend for or against.

TABLE 1
USPSTF recommendation categories

TABLE 2
Summary of new USPSTF recommendations

Continue to screen for HTN, sickle cell, Chlamydia

The latest A and B recommendations from the Task Force largely reaffirm previous recommendations. These recommendations cover hypertension, sickle cell disease, and Chlamydia.

Hypertension. Screening and treatment of hypertension in adults leads to lower morbidity and mortality from cardiovascular disease and is still recommended.²

Sickle cell disease. Screening newborns for sickle cell disease and treating those affected with oral prophylactic penicillin prevents serious bacterial infections. It also remains a recommended service.³

Chlamydia. Following a review of the evidence, the Task Force reconfirms the benefits of screening for Chlamydia in sexually active young women, but it has changed the age cutoff. In 2001, the Task Force indicated that sexually active women who were 25 years of age and younger should be screened. In 2007, the Task Force dropped the age to 24 and younger.

The latest recommendation reaffirms the need to screen women (above the cutoff) who are at risk—that is, women who have previously had a sexually transmitted infection (STI), those who have a new or multiple sex partners, and those who exchange sex for money or drugs.⁴ Screening is recommended annually; nucleic acid amplification tests are acceptable, allowing testing of urine or vaginal swabs.

Screening during pregnancy is recommended for the same groups—women who are 24 and younger and older women at risk—at the first prenatal visit and again in the third trimester if risk continues. Chlamydia is the most common bacterial STI, and screening and treatment prevents pelvic inflammatory disease in women and leads to improved pregnancy outcomes.

Interventions that are not recommended

Chemopreventon of colorectal cancer. For the first time, the Task Force issued a recommendation on the use of aspirin or other NSAIDs to prevent CRC. The Task Force does not recommend the routine use of these agents.⁵ The dosage needed to prevent CRC is higher than that which prevents cardiovascular disease and can cause significant harm.

Aspirin use is associated with gastrointestinal bleeding and hemorrhagic stroke; NSAID use is associated with gastrointestinal bleeding and renal impairment. The Task Force concludes that in the general adult population, potential harms exceed potential benefits.

Screening for carotid artery stenosis. In 1996, the Task Force found insufficient evidence to recommend for or against routine screening for carotid artery stenosis. In 2007, the Task Force made a recommendation against routine screening for carotid artery stenosis.⁶ Screening with duplex ultrasonography results in frequent false positives. Confirmatory testing with angiography is associated with a 1% rate of stroke. Endarterectomy itself has a death or stroke rate of about 3%.

In the general population, close to 8700 adults would need to be screened to prevent 1 disabling stroke. The Task Force indicates that primary care physicians would have better outcomes by concentrating on optimal management of risk factors for cerebral artery disease.

Screening for bacterial vaginosis among low-risk pregnant women. The final D recommendation pertains to screening for bacterial vaginosis during pregnancy to prevent preterm delivery.⁷ Pregnant women who have not had a previous preterm delivery are considered at low risk for preterm delivery and there is good evidence that this group does not benefit from screening for, or treatment of, asymptomatic bacterial vaginosis. (A similar recommendation was made in 2001, but it referred to women of “average” risk.)

Insufficient evidence to make a recommendation

Routinely screening men for Chlamydia. While it makes clinical sense to test and treat male partners of women with Chlamydia infection, the Task Force could not find evidence of the effectiveness of routinely screening men as a way to prevent infection in women.⁴ That said, the Task Force points out that screening men is relatively inexpensive and has negligible harms.

Screening for hyperlipidemia in children. While 50% of children with hyperlipidemia continue to have this disorder as adults, the long-term benefits and harms of early detection and treatment with medications and lipid-lowering diets have not been studied.⁸ This echoes the position the Task Force took in 1996, when it commented on children as part of an adult hyperlipidemia recommendation.

Physician counseling on drinking and driving. Motor vehicle crashes result in significant morbidity and mortality—especially among adolescents and young adults. Improved car and road design, as well as public health safety efforts, have led to significant improvements in motor vehicle safety. While avoidance of driving under the influence and proper use of occupant restraints are important public health goals, the Task Force, in this first recommendation on the subject, could find no evidence that physician counseling added benefit above those provided by community-wide efforts.⁹

Screening for bacterial vaginosis in pregnant women at high risk for preterm birth. As mentioned previously, screening low-risk pregnant women for bacterial vaginosis results in no benefit. The issue is less clear cut among women at high risk for a preterm delivery—that is, those who have had one previously.

The evidence regarding screening and treating asymptomatic bacterial vaginosis as a means of preventing preterm delivery in these women is mixed and the Task Force was unable to recommend for or against this practice.⁷ This reaffirms the Task Force’s 2001 recommendation.

Screening for illicit drug use. The Task Force recognizes that illicit drug use is a major cause of illness and social problems. It would appear to have great potential for early detection and intervention. However, the Task Force, in this first-time recommendation, found that screening tools have not been well studied, nor have the long-term effects of different treatment strategies.¹⁰ These are high priority areas for future research.

Correspondence
Doug Campos-Outcalt, MD, MPA, 550 E. Van Buren, Phoenix, AZ 85004; dougco@u.arizona.edu

Not enough time and too many potential tests to do. This is the problem faced daily by family physicians. We want to practice up-to-date preventive medicine, but there’s little time to analyze the latest studies. Thankfully, we can rely on the United States Preventive Services Task Force, the organization with the most rigorous evidence-based approach, to do the legwork for us.¹

Last year, and in the early part of this year, the Task Force issued a number of recommendations on topics ranging from hypertension screening to screening for illicit drug use. (See TABLE 1 for a breakdown of the 5 categories of recommendations.)

While some of these recommendations (TABLE 2) were reaffirmations of past recommendations, others included some changes.

The Task Force has:

• dropped the age for routine screening for Chlamydia in sexually active women from 25 years and younger to 24 and younger.
• added a recommendation against the use of aspirin or other nonsteroidal anti-inflammatory drugs (NSAIDs) to prevent colorectal cancer (CRC).
• changed its recommendation on screening for carotid artery stenosis. In 1996, the Task Force noted that the evidence was insufficient to make a recommendation; in 2007 it recommended against such routine screening.
• added recommendations on counseling patients about drinking and driving, as well as on screening for illicit drug use. In both cases, the Task Force says the evidence is insufficient to recommend for or against.

TABLE 1
USPSTF recommendation categories

TABLE 2
Summary of new USPSTF recommendations

Continue to screen for HTN, sickle cell, Chlamydia

The latest A and B recommendations from the Task Force largely reaffirm previous recommendations. These recommendations cover hypertension, sickle cell disease, and Chlamydia.

Hypertension. Screening and treatment of hypertension in adults leads to lower morbidity and mortality from cardiovascular disease and is still recommended.²

Sickle cell disease. Screening newborns for sickle cell disease and treating those affected with oral prophylactic penicillin prevents serious bacterial infections. It also remains a recommended service.³

Chlamydia. Following a review of the evidence, the Task Force reconfirms the benefits of screening for Chlamydia in sexually active young women, but it has changed the age cutoff. In 2001, the Task Force indicated that sexually active women who were 25 years of age and younger should be screened. In 2007, the Task Force dropped the age to 24 and younger.

The latest recommendation reaffirms the need to screen women (above the cutoff) who are at risk—that is, women who have previously had a sexually transmitted infection (STI), those who have a new or multiple sex partners, and those who exchange sex for money or drugs.⁴ Screening is recommended annually; nucleic acid amplification tests are acceptable, allowing testing of urine or vaginal swabs.

Screening during pregnancy is recommended for the same groups—women who are 24 and younger and older women at risk—at the first prenatal visit and again in the third trimester if risk continues. Chlamydia is the most common bacterial STI, and screening and treatment prevents pelvic inflammatory disease in women and leads to improved pregnancy outcomes.

Interventions that are not recommended

Chemopreventon of colorectal cancer. For the first time, the Task Force issued a recommendation on the use of aspirin or other NSAIDs to prevent CRC. The Task Force does not recommend the routine use of these agents.⁵ The dosage needed to prevent CRC is higher than that which prevents cardiovascular disease and can cause significant harm.

Aspirin use is associated with gastrointestinal bleeding and hemorrhagic stroke; NSAID use is associated with gastrointestinal bleeding and renal impairment. The Task Force concludes that in the general adult population, potential harms exceed potential benefits.

Screening for carotid artery stenosis. In 1996, the Task Force found insufficient evidence to recommend for or against routine screening for carotid artery stenosis. In 2007, the Task Force made a recommendation against routine screening for carotid artery stenosis.⁶ Screening with duplex ultrasonography results in frequent false positives. Confirmatory testing with angiography is associated with a 1% rate of stroke. Endarterectomy itself has a death or stroke rate of about 3%.

In the general population, close to 8700 adults would need to be screened to prevent 1 disabling stroke. The Task Force indicates that primary care physicians would have better outcomes by concentrating on optimal management of risk factors for cerebral artery disease.

Screening for bacterial vaginosis among low-risk pregnant women. The final D recommendation pertains to screening for bacterial vaginosis during pregnancy to prevent preterm delivery.⁷ Pregnant women who have not had a previous preterm delivery are considered at low risk for preterm delivery and there is good evidence that this group does not benefit from screening for, or treatment of, asymptomatic bacterial vaginosis. (A similar recommendation was made in 2001, but it referred to women of “average” risk.)

Insufficient evidence to make a recommendation

Routinely screening men for Chlamydia. While it makes clinical sense to test and treat male partners of women with Chlamydia infection, the Task Force could not find evidence of the effectiveness of routinely screening men as a way to prevent infection in women.⁴ That said, the Task Force points out that screening men is relatively inexpensive and has negligible harms.

Screening for hyperlipidemia in children. While 50% of children with hyperlipidemia continue to have this disorder as adults, the long-term benefits and harms of early detection and treatment with medications and lipid-lowering diets have not been studied.⁸ This echoes the position the Task Force took in 1996, when it commented on children as part of an adult hyperlipidemia recommendation.

Physician counseling on drinking and driving. Motor vehicle crashes result in significant morbidity and mortality—especially among adolescents and young adults. Improved car and road design, as well as public health safety efforts, have led to significant improvements in motor vehicle safety. While avoidance of driving under the influence and proper use of occupant restraints are important public health goals, the Task Force, in this first recommendation on the subject, could find no evidence that physician counseling added benefit above those provided by community-wide efforts.⁹

Screening for bacterial vaginosis in pregnant women at high risk for preterm birth. As mentioned previously, screening low-risk pregnant women for bacterial vaginosis results in no benefit. The issue is less clear cut among women at high risk for a preterm delivery—that is, those who have had one previously.

The evidence regarding screening and treating asymptomatic bacterial vaginosis as a means of preventing preterm delivery in these women is mixed and the Task Force was unable to recommend for or against this practice.⁷ This reaffirms the Task Force’s 2001 recommendation.

Screening for illicit drug use. The Task Force recognizes that illicit drug use is a major cause of illness and social problems. It would appear to have great potential for early detection and intervention. However, the Task Force, in this first-time recommendation, found that screening tools have not been well studied, nor have the long-term effects of different treatment strategies.¹⁰ These are high priority areas for future research.

Correspondence
Doug Campos-Outcalt, MD, MPA, 550 E. Van Buren, Phoenix, AZ 85004; dougco@u.arizona.edu

Not enough time and too many potential tests to do. This is the problem faced daily by family physicians. We want to practice up-to-date preventive medicine, but there’s little time to analyze the latest studies. Thankfully, we can rely on the United States Preventive Services Task Force, the organization with the most rigorous evidence-based approach, to do the legwork for us.¹

Last year, and in the early part of this year, the Task Force issued a number of recommendations on topics ranging from hypertension screening to screening for illicit drug use. (See TABLE 1 for a breakdown of the 5 categories of recommendations.)

While some of these recommendations (TABLE 2) were reaffirmations of past recommendations, others included some changes.

The Task Force has:

• dropped the age for routine screening for Chlamydia in sexually active women from 25 years and younger to 24 and younger.
• added a recommendation against the use of aspirin or other nonsteroidal anti-inflammatory drugs (NSAIDs) to prevent colorectal cancer (CRC).
• changed its recommendation on screening for carotid artery stenosis. In 1996, the Task Force noted that the evidence was insufficient to make a recommendation; in 2007 it recommended against such routine screening.
• added recommendations on counseling patients about drinking and driving, as well as on screening for illicit drug use. In both cases, the Task Force says the evidence is insufficient to recommend for or against.

TABLE 1
USPSTF recommendation categories

TABLE 2
Summary of new USPSTF recommendations

Continue to screen for HTN, sickle cell, Chlamydia

The latest A and B recommendations from the Task Force largely reaffirm previous recommendations. These recommendations cover hypertension, sickle cell disease, and Chlamydia.

Hypertension. Screening and treatment of hypertension in adults leads to lower morbidity and mortality from cardiovascular disease and is still recommended.²

Sickle cell disease. Screening newborns for sickle cell disease and treating those affected with oral prophylactic penicillin prevents serious bacterial infections. It also remains a recommended service.³

Chlamydia. Following a review of the evidence, the Task Force reconfirms the benefits of screening for Chlamydia in sexually active young women, but it has changed the age cutoff. In 2001, the Task Force indicated that sexually active women who were 25 years of age and younger should be screened. In 2007, the Task Force dropped the age to 24 and younger.

The latest recommendation reaffirms the need to screen women (above the cutoff) who are at risk—that is, women who have previously had a sexually transmitted infection (STI), those who have a new or multiple sex partners, and those who exchange sex for money or drugs.⁴ Screening is recommended annually; nucleic acid amplification tests are acceptable, allowing testing of urine or vaginal swabs.

Screening during pregnancy is recommended for the same groups—women who are 24 and younger and older women at risk—at the first prenatal visit and again in the third trimester if risk continues. Chlamydia is the most common bacterial STI, and screening and treatment prevents pelvic inflammatory disease in women and leads to improved pregnancy outcomes.

Interventions that are not recommended

Chemopreventon of colorectal cancer. For the first time, the Task Force issued a recommendation on the use of aspirin or other NSAIDs to prevent CRC. The Task Force does not recommend the routine use of these agents.⁵ The dosage needed to prevent CRC is higher than that which prevents cardiovascular disease and can cause significant harm.

Aspirin use is associated with gastrointestinal bleeding and hemorrhagic stroke; NSAID use is associated with gastrointestinal bleeding and renal impairment. The Task Force concludes that in the general adult population, potential harms exceed potential benefits.

Screening for carotid artery stenosis. In 1996, the Task Force found insufficient evidence to recommend for or against routine screening for carotid artery stenosis. In 2007, the Task Force made a recommendation against routine screening for carotid artery stenosis.⁶ Screening with duplex ultrasonography results in frequent false positives. Confirmatory testing with angiography is associated with a 1% rate of stroke. Endarterectomy itself has a death or stroke rate of about 3%.

In the general population, close to 8700 adults would need to be screened to prevent 1 disabling stroke. The Task Force indicates that primary care physicians would have better outcomes by concentrating on optimal management of risk factors for cerebral artery disease.

Screening for bacterial vaginosis among low-risk pregnant women. The final D recommendation pertains to screening for bacterial vaginosis during pregnancy to prevent preterm delivery.⁷ Pregnant women who have not had a previous preterm delivery are considered at low risk for preterm delivery and there is good evidence that this group does not benefit from screening for, or treatment of, asymptomatic bacterial vaginosis. (A similar recommendation was made in 2001, but it referred to women of “average” risk.)

Insufficient evidence to make a recommendation

Routinely screening men for Chlamydia. While it makes clinical sense to test and treat male partners of women with Chlamydia infection, the Task Force could not find evidence of the effectiveness of routinely screening men as a way to prevent infection in women.⁴ That said, the Task Force points out that screening men is relatively inexpensive and has negligible harms.

Screening for hyperlipidemia in children. While 50% of children with hyperlipidemia continue to have this disorder as adults, the long-term benefits and harms of early detection and treatment with medications and lipid-lowering diets have not been studied.⁸ This echoes the position the Task Force took in 1996, when it commented on children as part of an adult hyperlipidemia recommendation.

Physician counseling on drinking and driving. Motor vehicle crashes result in significant morbidity and mortality—especially among adolescents and young adults. Improved car and road design, as well as public health safety efforts, have led to significant improvements in motor vehicle safety. While avoidance of driving under the influence and proper use of occupant restraints are important public health goals, the Task Force, in this first recommendation on the subject, could find no evidence that physician counseling added benefit above those provided by community-wide efforts.⁹

Screening for bacterial vaginosis in pregnant women at high risk for preterm birth. As mentioned previously, screening low-risk pregnant women for bacterial vaginosis results in no benefit. The issue is less clear cut among women at high risk for a preterm delivery—that is, those who have had one previously.

The evidence regarding screening and treating asymptomatic bacterial vaginosis as a means of preventing preterm delivery in these women is mixed and the Task Force was unable to recommend for or against this practice.⁷ This reaffirms the Task Force’s 2001 recommendation.

Screening for illicit drug use. The Task Force recognizes that illicit drug use is a major cause of illness and social problems. It would appear to have great potential for early detection and intervention. However, the Task Force, in this first-time recommendation, found that screening tools have not been well studied, nor have the long-term effects of different treatment strategies.¹⁰ These are high priority areas for future research.

Correspondence
Doug Campos-Outcalt, MD, MPA, 550 E. Van Buren, Phoenix, AZ 85004; dougco@u.arizona.edu

Fluvoxamine extended-release formulation was FDA-approved to treat generalized social anxiety disorder (GSAD) and obsessive-compulsive disorder (OCD) because it demonstrated efficacy in reducing anxiety symptoms of these disorders in 3 clinical trials. The new formulation may benefit patients unable to tolerate the existing immediate-release form.

Clinical implications

Like other selective serotonin reuptake inhibitors (SSRIs), fluvoxamine alleviates symptoms of GSAD and OCD. The extended-release formulation allows the medication to be administered once daily (Table 1) and, according to the manufacturer, may reduce side effects and improve tolerability.

Many clinicians have prescribed immediate-release fluvoxamine once daily, and the efficacy and tolerability of the immediate- and extended-release formulations have not been compared in head-to-head trials. In addition, no studies have examined the efficacy of extended-release fluvoxamine in treating other psychiatric conditions.

Table 1

Extended-release fluvoxamine: Fast facts

How it works

Decreased serotonin levels are associated with GSAD and OCD. Fluvoxamine’s therapeutic effect is thought to be mediated through its specific serotonin reuptake inhibition in the CNS.¹

The drug acts primarily on serotonin 2C receptors, with no reported significant affinity for histaminergic, adrenergic, muscarinic, or dopaminergic receptors.¹ Fluvoxamine’s 1-sigma receptor antagonism is unique among SSRIs, and researchers have suggested that this may make fluvoxamine more effective than other SSRIs in treating anxious or delusional depression.²

The extended-release formulation uses a spheroidal oral drug absorption system, a proprietary technology that limits peak-to-trough variance for 24 hours.¹ The manufacturer postulates that decreased plasma concentration variability will improve fluvoxamine’s tolerability.¹

Pharmacokinetics

In a single-dose crossover study of 28 healthy subjects, the mean maximum concentration of drug (C_max) for extended-release fluvoxamine was 38% lower than that of the immediate-release formulation, which may reduce the risk of adverse effects.¹ Its relative bioavailability was 84%, and mean plasma half-life was 16.3 hours in male and female volunteers.¹

Fluvoxamine is extensively metabolized in the liver, primarily through oxidative demethylation and deamination.¹ Nine metabolites constitute 85% of the urinary excretion product; the main metabolite is fluvoxamine acid.¹ Approximately 2% of fluvoxamine is excreted unchanged in urine. Administering extended-release fluvoxamine capsules with food does not appear to affect the drug’s absorption.¹

Fluvoxamine is a potent inhibitor of the cytochrome P450 (CYP) 1A2 isoenzyme and also is believed to significantly inhibit CYP3A4, CYP2C9, CYP3A4, and CYP2C19. It is a relatively weak inhibitor of CYP2D6.¹

Efficacy

The FDA based its approval of extended-release fluvoxamine on data from 3 clinical trials with positive outcomes: 2 for GSAD and 1 for OCD (Table 2).^1,3-6

GSAD trials. In the first GSAD study—a randomized, double-blind, placebo-controlled, multicenter trial of 300 subjects with GSAD—participants were randomly assigned to receive extended-release fluvoxamine or placebo for 12 weeks.³ The extended-release fluvoxamine group started at 100 mg administered at night, with dosages titrated at 50 mg/week based on efficacy and tolerability to a maximum of 300 mg/d.¹ Subjects in the extended-release fluvoxamine group demonstrated a statistically significant change in Liebowitz Social Anxiety Scale (LSAS) scores from baseline compared with those receiving placebo (P=0.02). Researchers observed similar results in secondary measures.

In an extension of this study, 112 subjects who demonstrated at least minimal improvement from extended-release fluvoxamine by week 12 continued the same dosing regimen for an additional 12 weeks. Investigators found the drug’s beneficial effects persisted to 24 weeks, although the magnitude of the effect decreased.⁴

A separate study using the same dosing regimen enrolled 279 adult patients in a 12-week, multicenter, randomized, placebo-controlled trial.⁵ The fluvoxamine-treated group showed statistically and clinically significant improvement:

• by week 4 on the LSAS and the Clinical Global Impression-Improvement (CGI-I) scale
• by week 6 on the Sheehan Disability Scale, Clinical Global Impression-Severity scale (CGI-S) and Patient Global Impression of Improvement (PGI) scale.⁵

OCD trial. Hollander et al⁶ conducted a 12-week, double-blind, placebo-controlled, flexible-dose, parallel multicenter trial of 253 adult patients with OCD.⁶ Compared with those receiving placebo, subjects treated with extended-release fluvoxamine, 100 to 300 mg/d, showed a statistically significant decrease in score on the Yale-Brown Obsessive Compulsive Scale (P=0.001).⁶ Analysis of the CGIS and CGI-I also revealed statistically significant improvement compared with placebo. The effect appeared to begin at week 2.

As did the GSAD studies, this study compared extended-release fluvoxamine with placebo and not with the immediate-release formulation. Although no additional studies have examined the efficacy of extended-release fluvoxamine in treating OCD and the drug has not been evaluated in pediatric patients, the manufacturer notes that the immediate-release formulation has been evaluated in 2 studies with adult OCD patients and 1 pediatric OCD study, all of which had positive results.¹

Table 2

Fluvoxamine extended-release: What the evidence says

Tolerability

In the 3 published trials of extended-release fluvoxamine, adverse event rates were similar and consistent with earlier studies of the immediate-release formulation. ¹ The manufacturer considered adverse events likely to be drug-related if they had an incidence ≥5% and at least twice that of placebo (Table 3). ^{1, 3- 6}

Adverse events caused 26% of patients in the GSAD studies and 19% in the OCD trial to discontinue treatment. No deaths, life-threatening adverse events, or suicide attempts were reported.^3-6 No statistically significant differences in weight gain or loss, vital signs, laboratory findings, or ECG changes were found between patients treated with extended-release fluvoxamine and those receiving placebo.¹

Table 3

Extended-release fluvoxamine: Adverse events*

Contraindications

Immediate- and extended-release fluvoxamine have the same active ingredient and therefore the same contraindications. Coadministration of alosetron, pimozide, thioridazine, or tizanidine, is contraindicated, as is using monoamine oxidase (MAO) inhibitors with extended-release fluvoxamine or within 14 days of discontinuing fluvoxamine treatment. Extended-release fluvoxamine has the same warnings that all SSRIs share regarding clinical worsening and suicide risk, administration to bipolar patients, neuroleptic malignant syndrome, serotonin syndrome, and possible increases in coagulation.^1,2

The FDA classifies extended-release fluvoxamine as pregnancy category C.¹ The drug is not contraindicated for lactating mothers, but because fluvoxamine is secreted in breast milk discuss with breast-feeding patients the benefits and risks of continuing fluvoxamine therapy.¹ Infants exposed to immediate-release fluvoxamine in late pregnancy have developed serious adverse reactions, including respiratory distress, cyanosis, apnea, and seizures.¹

Dosing

The recommended starting dose of extended-release fluvoxamine is 100 mg once daily, with or without food.¹ The dose can be titrated in 50-mg/week increments as tolerated to achieve maximum therapeutic benefit, to the maximum recommended dose of 300 mg/d. Unlike immediate-release fluvoxamine, which is occasionally split into twice-daily doses, extended-release fluvoxamine must be administered only once daily, even at high doses.^1,2

Related resource

• Luvox CR prescribing information. www.jazzpharmaceuticals.com/content/news/documents/LUVOX_CR.pdf.

Drug brand names

• Alosetron • Lotronex
• Fluvoxamine • Luvox
• Fluvoxamine extended-release • Luvox CR
• Pimozide • Orap
• Thioridazine • Mellaril
• Tizanidine • Zanaflex

Disclosures

Dr. Kuzma reports no financial relationship with any company whose products are mentioned in this article or with manufacturers of competing products.

Dr. Black receives research/grant support from Forest Laboratories and is a consultant to Jazz Pharmaceuticals.

Fluvoxamine extended-release formulation was FDA-approved to treat generalized social anxiety disorder (GSAD) and obsessive-compulsive disorder (OCD) because it demonstrated efficacy in reducing anxiety symptoms of these disorders in 3 clinical trials. The new formulation may benefit patients unable to tolerate the existing immediate-release form.

Clinical implications

Like other selective serotonin reuptake inhibitors (SSRIs), fluvoxamine alleviates symptoms of GSAD and OCD. The extended-release formulation allows the medication to be administered once daily (Table 1) and, according to the manufacturer, may reduce side effects and improve tolerability.

Many clinicians have prescribed immediate-release fluvoxamine once daily, and the efficacy and tolerability of the immediate- and extended-release formulations have not been compared in head-to-head trials. In addition, no studies have examined the efficacy of extended-release fluvoxamine in treating other psychiatric conditions.

Table 1

Extended-release fluvoxamine: Fast facts

How it works

Decreased serotonin levels are associated with GSAD and OCD. Fluvoxamine’s therapeutic effect is thought to be mediated through its specific serotonin reuptake inhibition in the CNS.¹

The drug acts primarily on serotonin 2C receptors, with no reported significant affinity for histaminergic, adrenergic, muscarinic, or dopaminergic receptors.¹ Fluvoxamine’s 1-sigma receptor antagonism is unique among SSRIs, and researchers have suggested that this may make fluvoxamine more effective than other SSRIs in treating anxious or delusional depression.²

The extended-release formulation uses a spheroidal oral drug absorption system, a proprietary technology that limits peak-to-trough variance for 24 hours.¹ The manufacturer postulates that decreased plasma concentration variability will improve fluvoxamine’s tolerability.¹

Pharmacokinetics

In a single-dose crossover study of 28 healthy subjects, the mean maximum concentration of drug (C_max) for extended-release fluvoxamine was 38% lower than that of the immediate-release formulation, which may reduce the risk of adverse effects.¹ Its relative bioavailability was 84%, and mean plasma half-life was 16.3 hours in male and female volunteers.¹

Fluvoxamine is extensively metabolized in the liver, primarily through oxidative demethylation and deamination.¹ Nine metabolites constitute 85% of the urinary excretion product; the main metabolite is fluvoxamine acid.¹ Approximately 2% of fluvoxamine is excreted unchanged in urine. Administering extended-release fluvoxamine capsules with food does not appear to affect the drug’s absorption.¹

Fluvoxamine is a potent inhibitor of the cytochrome P450 (CYP) 1A2 isoenzyme and also is believed to significantly inhibit CYP3A4, CYP2C9, CYP3A4, and CYP2C19. It is a relatively weak inhibitor of CYP2D6.¹

Efficacy

The FDA based its approval of extended-release fluvoxamine on data from 3 clinical trials with positive outcomes: 2 for GSAD and 1 for OCD (Table 2).^1,3-6

GSAD trials. In the first GSAD study—a randomized, double-blind, placebo-controlled, multicenter trial of 300 subjects with GSAD—participants were randomly assigned to receive extended-release fluvoxamine or placebo for 12 weeks.³ The extended-release fluvoxamine group started at 100 mg administered at night, with dosages titrated at 50 mg/week based on efficacy and tolerability to a maximum of 300 mg/d.¹ Subjects in the extended-release fluvoxamine group demonstrated a statistically significant change in Liebowitz Social Anxiety Scale (LSAS) scores from baseline compared with those receiving placebo (P=0.02). Researchers observed similar results in secondary measures.

In an extension of this study, 112 subjects who demonstrated at least minimal improvement from extended-release fluvoxamine by week 12 continued the same dosing regimen for an additional 12 weeks. Investigators found the drug’s beneficial effects persisted to 24 weeks, although the magnitude of the effect decreased.⁴

A separate study using the same dosing regimen enrolled 279 adult patients in a 12-week, multicenter, randomized, placebo-controlled trial.⁵ The fluvoxamine-treated group showed statistically and clinically significant improvement:

• by week 4 on the LSAS and the Clinical Global Impression-Improvement (CGI-I) scale
• by week 6 on the Sheehan Disability Scale, Clinical Global Impression-Severity scale (CGI-S) and Patient Global Impression of Improvement (PGI) scale.⁵

OCD trial. Hollander et al⁶ conducted a 12-week, double-blind, placebo-controlled, flexible-dose, parallel multicenter trial of 253 adult patients with OCD.⁶ Compared with those receiving placebo, subjects treated with extended-release fluvoxamine, 100 to 300 mg/d, showed a statistically significant decrease in score on the Yale-Brown Obsessive Compulsive Scale (P=0.001).⁶ Analysis of the CGIS and CGI-I also revealed statistically significant improvement compared with placebo. The effect appeared to begin at week 2.

As did the GSAD studies, this study compared extended-release fluvoxamine with placebo and not with the immediate-release formulation. Although no additional studies have examined the efficacy of extended-release fluvoxamine in treating OCD and the drug has not been evaluated in pediatric patients, the manufacturer notes that the immediate-release formulation has been evaluated in 2 studies with adult OCD patients and 1 pediatric OCD study, all of which had positive results.¹

Table 2

Fluvoxamine extended-release: What the evidence says

Tolerability

In the 3 published trials of extended-release fluvoxamine, adverse event rates were similar and consistent with earlier studies of the immediate-release formulation. ¹ The manufacturer considered adverse events likely to be drug-related if they had an incidence ≥5% and at least twice that of placebo (Table 3). ^{1, 3- 6}

Adverse events caused 26% of patients in the GSAD studies and 19% in the OCD trial to discontinue treatment. No deaths, life-threatening adverse events, or suicide attempts were reported.^3-6 No statistically significant differences in weight gain or loss, vital signs, laboratory findings, or ECG changes were found between patients treated with extended-release fluvoxamine and those receiving placebo.¹

Table 3

Extended-release fluvoxamine: Adverse events*

Contraindications

Immediate- and extended-release fluvoxamine have the same active ingredient and therefore the same contraindications. Coadministration of alosetron, pimozide, thioridazine, or tizanidine, is contraindicated, as is using monoamine oxidase (MAO) inhibitors with extended-release fluvoxamine or within 14 days of discontinuing fluvoxamine treatment. Extended-release fluvoxamine has the same warnings that all SSRIs share regarding clinical worsening and suicide risk, administration to bipolar patients, neuroleptic malignant syndrome, serotonin syndrome, and possible increases in coagulation.^1,2

The FDA classifies extended-release fluvoxamine as pregnancy category C.¹ The drug is not contraindicated for lactating mothers, but because fluvoxamine is secreted in breast milk discuss with breast-feeding patients the benefits and risks of continuing fluvoxamine therapy.¹ Infants exposed to immediate-release fluvoxamine in late pregnancy have developed serious adverse reactions, including respiratory distress, cyanosis, apnea, and seizures.¹

Dosing

The recommended starting dose of extended-release fluvoxamine is 100 mg once daily, with or without food.¹ The dose can be titrated in 50-mg/week increments as tolerated to achieve maximum therapeutic benefit, to the maximum recommended dose of 300 mg/d. Unlike immediate-release fluvoxamine, which is occasionally split into twice-daily doses, extended-release fluvoxamine must be administered only once daily, even at high doses.^1,2

Related resource

• Luvox CR prescribing information. www.jazzpharmaceuticals.com/content/news/documents/LUVOX_CR.pdf.

Drug brand names

• Alosetron • Lotronex
• Fluvoxamine • Luvox
• Fluvoxamine extended-release • Luvox CR
• Pimozide • Orap
• Thioridazine • Mellaril
• Tizanidine • Zanaflex

Disclosures

Dr. Kuzma reports no financial relationship with any company whose products are mentioned in this article or with manufacturers of competing products.

Dr. Black receives research/grant support from Forest Laboratories and is a consultant to Jazz Pharmaceuticals.

Fluvoxamine extended-release formulation was FDA-approved to treat generalized social anxiety disorder (GSAD) and obsessive-compulsive disorder (OCD) because it demonstrated efficacy in reducing anxiety symptoms of these disorders in 3 clinical trials. The new formulation may benefit patients unable to tolerate the existing immediate-release form.

Clinical implications

Like other selective serotonin reuptake inhibitors (SSRIs), fluvoxamine alleviates symptoms of GSAD and OCD. The extended-release formulation allows the medication to be administered once daily (Table 1) and, according to the manufacturer, may reduce side effects and improve tolerability.

Many clinicians have prescribed immediate-release fluvoxamine once daily, and the efficacy and tolerability of the immediate- and extended-release formulations have not been compared in head-to-head trials. In addition, no studies have examined the efficacy of extended-release fluvoxamine in treating other psychiatric conditions.

Table 1

Extended-release fluvoxamine: Fast facts

How it works

Decreased serotonin levels are associated with GSAD and OCD. Fluvoxamine’s therapeutic effect is thought to be mediated through its specific serotonin reuptake inhibition in the CNS.¹

The drug acts primarily on serotonin 2C receptors, with no reported significant affinity for histaminergic, adrenergic, muscarinic, or dopaminergic receptors.¹ Fluvoxamine’s 1-sigma receptor antagonism is unique among SSRIs, and researchers have suggested that this may make fluvoxamine more effective than other SSRIs in treating anxious or delusional depression.²

The extended-release formulation uses a spheroidal oral drug absorption system, a proprietary technology that limits peak-to-trough variance for 24 hours.¹ The manufacturer postulates that decreased plasma concentration variability will improve fluvoxamine’s tolerability.¹

Pharmacokinetics

In a single-dose crossover study of 28 healthy subjects, the mean maximum concentration of drug (C_max) for extended-release fluvoxamine was 38% lower than that of the immediate-release formulation, which may reduce the risk of adverse effects.¹ Its relative bioavailability was 84%, and mean plasma half-life was 16.3 hours in male and female volunteers.¹

Fluvoxamine is extensively metabolized in the liver, primarily through oxidative demethylation and deamination.¹ Nine metabolites constitute 85% of the urinary excretion product; the main metabolite is fluvoxamine acid.¹ Approximately 2% of fluvoxamine is excreted unchanged in urine. Administering extended-release fluvoxamine capsules with food does not appear to affect the drug’s absorption.¹

Fluvoxamine is a potent inhibitor of the cytochrome P450 (CYP) 1A2 isoenzyme and also is believed to significantly inhibit CYP3A4, CYP2C9, CYP3A4, and CYP2C19. It is a relatively weak inhibitor of CYP2D6.¹

Efficacy

The FDA based its approval of extended-release fluvoxamine on data from 3 clinical trials with positive outcomes: 2 for GSAD and 1 for OCD (Table 2).^1,3-6

GSAD trials. In the first GSAD study—a randomized, double-blind, placebo-controlled, multicenter trial of 300 subjects with GSAD—participants were randomly assigned to receive extended-release fluvoxamine or placebo for 12 weeks.³ The extended-release fluvoxamine group started at 100 mg administered at night, with dosages titrated at 50 mg/week based on efficacy and tolerability to a maximum of 300 mg/d.¹ Subjects in the extended-release fluvoxamine group demonstrated a statistically significant change in Liebowitz Social Anxiety Scale (LSAS) scores from baseline compared with those receiving placebo (P=0.02). Researchers observed similar results in secondary measures.

In an extension of this study, 112 subjects who demonstrated at least minimal improvement from extended-release fluvoxamine by week 12 continued the same dosing regimen for an additional 12 weeks. Investigators found the drug’s beneficial effects persisted to 24 weeks, although the magnitude of the effect decreased.⁴

A separate study using the same dosing regimen enrolled 279 adult patients in a 12-week, multicenter, randomized, placebo-controlled trial.⁵ The fluvoxamine-treated group showed statistically and clinically significant improvement:

• by week 4 on the LSAS and the Clinical Global Impression-Improvement (CGI-I) scale
• by week 6 on the Sheehan Disability Scale, Clinical Global Impression-Severity scale (CGI-S) and Patient Global Impression of Improvement (PGI) scale.⁵

OCD trial. Hollander et al⁶ conducted a 12-week, double-blind, placebo-controlled, flexible-dose, parallel multicenter trial of 253 adult patients with OCD.⁶ Compared with those receiving placebo, subjects treated with extended-release fluvoxamine, 100 to 300 mg/d, showed a statistically significant decrease in score on the Yale-Brown Obsessive Compulsive Scale (P=0.001).⁶ Analysis of the CGIS and CGI-I also revealed statistically significant improvement compared with placebo. The effect appeared to begin at week 2.

As did the GSAD studies, this study compared extended-release fluvoxamine with placebo and not with the immediate-release formulation. Although no additional studies have examined the efficacy of extended-release fluvoxamine in treating OCD and the drug has not been evaluated in pediatric patients, the manufacturer notes that the immediate-release formulation has been evaluated in 2 studies with adult OCD patients and 1 pediatric OCD study, all of which had positive results.¹

Table 2

Fluvoxamine extended-release: What the evidence says

Tolerability

In the 3 published trials of extended-release fluvoxamine, adverse event rates were similar and consistent with earlier studies of the immediate-release formulation. ¹ The manufacturer considered adverse events likely to be drug-related if they had an incidence ≥5% and at least twice that of placebo (Table 3). ^{1, 3- 6}

Adverse events caused 26% of patients in the GSAD studies and 19% in the OCD trial to discontinue treatment. No deaths, life-threatening adverse events, or suicide attempts were reported.^3-6 No statistically significant differences in weight gain or loss, vital signs, laboratory findings, or ECG changes were found between patients treated with extended-release fluvoxamine and those receiving placebo.¹

Table 3

Extended-release fluvoxamine: Adverse events*

Contraindications

Immediate- and extended-release fluvoxamine have the same active ingredient and therefore the same contraindications. Coadministration of alosetron, pimozide, thioridazine, or tizanidine, is contraindicated, as is using monoamine oxidase (MAO) inhibitors with extended-release fluvoxamine or within 14 days of discontinuing fluvoxamine treatment. Extended-release fluvoxamine has the same warnings that all SSRIs share regarding clinical worsening and suicide risk, administration to bipolar patients, neuroleptic malignant syndrome, serotonin syndrome, and possible increases in coagulation.^1,2

The FDA classifies extended-release fluvoxamine as pregnancy category C.¹ The drug is not contraindicated for lactating mothers, but because fluvoxamine is secreted in breast milk discuss with breast-feeding patients the benefits and risks of continuing fluvoxamine therapy.¹ Infants exposed to immediate-release fluvoxamine in late pregnancy have developed serious adverse reactions, including respiratory distress, cyanosis, apnea, and seizures.¹

Dosing

The recommended starting dose of extended-release fluvoxamine is 100 mg once daily, with or without food.¹ The dose can be titrated in 50-mg/week increments as tolerated to achieve maximum therapeutic benefit, to the maximum recommended dose of 300 mg/d. Unlike immediate-release fluvoxamine, which is occasionally split into twice-daily doses, extended-release fluvoxamine must be administered only once daily, even at high doses.^1,2

Related resource

• Luvox CR prescribing information. www.jazzpharmaceuticals.com/content/news/documents/LUVOX_CR.pdf.

Drug brand names

• Alosetron • Lotronex
• Fluvoxamine • Luvox
• Fluvoxamine extended-release • Luvox CR
• Pimozide • Orap
• Thioridazine • Mellaril
• Tizanidine • Zanaflex

Disclosures

Dr. Kuzma reports no financial relationship with any company whose products are mentioned in this article or with manufacturers of competing products.

Dr. Black receives research/grant support from Forest Laboratories and is a consultant to Jazz Pharmaceuticals.

Thomas J. Vulliamy, PhD

Copenhagen— Researchers have identified a new biallelic mutation in the telomerase component NHP2, which can cause the premature aging syndrome dyskeratosis congenita.

Thomas J. Vulliamy, PhD, MRCPath, from Barts and the London School of Medicine and Dentistry, presented this finding at the 13th Congress of the European Hematology Association.

Dyskeratosis congenita is a genetically heterogeneous, multisystem disorder. The unifying feature of dyskeratosis congenita is that all mutations identified thus far affect molecules involved in telomere maintenance. Defective telomerase leads to premature aging, bone marrow failure, and a predisposition to 32 cancers.

Investigators analyzed the proteins NHP2 and GAR1 using high performance liquid chromatography screening followed by direct DNA sequencing. NHP2 and GAR1 are key components of telomerase, along with dyskerin and NOP10, and small nucleolar ribonucleoprotein (snoRNP) complexes.

Investigators measured telomere lengths by Southern blot analysis and assessed TERC levels and the effects of siRNA knockdown of gene transcripts using quantitative real-time PCR.

Dr Vulliamy and colleagues found that mutations in NHP2 can cause autosomal recessive dyskeratosis congenita. Patients with NHP2, dyskerin, and NOP10 mutations have short telomeres and low TERC levels.

Investigators concluded that this provided direct evidence of their role in telomere maintenance in humans. They did not find any GAR1 mutations, suggesting that GAR1 has a different impact on the accumulation of TERC.

This abstract was chosen as one of the 5 best of the Congress.

Thomas J. Vulliamy, PhD

Copenhagen— Researchers have identified a new biallelic mutation in the telomerase component NHP2, which can cause the premature aging syndrome dyskeratosis congenita.

Thomas J. Vulliamy, PhD, MRCPath, from Barts and the London School of Medicine and Dentistry, presented this finding at the 13th Congress of the European Hematology Association.

Dyskeratosis congenita is a genetically heterogeneous, multisystem disorder. The unifying feature of dyskeratosis congenita is that all mutations identified thus far affect molecules involved in telomere maintenance. Defective telomerase leads to premature aging, bone marrow failure, and a predisposition to 32 cancers.

Investigators analyzed the proteins NHP2 and GAR1 using high performance liquid chromatography screening followed by direct DNA sequencing. NHP2 and GAR1 are key components of telomerase, along with dyskerin and NOP10, and small nucleolar ribonucleoprotein (snoRNP) complexes.

Investigators measured telomere lengths by Southern blot analysis and assessed TERC levels and the effects of siRNA knockdown of gene transcripts using quantitative real-time PCR.

Dr Vulliamy and colleagues found that mutations in NHP2 can cause autosomal recessive dyskeratosis congenita. Patients with NHP2, dyskerin, and NOP10 mutations have short telomeres and low TERC levels.

Investigators concluded that this provided direct evidence of their role in telomere maintenance in humans. They did not find any GAR1 mutations, suggesting that GAR1 has a different impact on the accumulation of TERC.

This abstract was chosen as one of the 5 best of the Congress.

Thomas J. Vulliamy, PhD

Copenhagen— Researchers have identified a new biallelic mutation in the telomerase component NHP2, which can cause the premature aging syndrome dyskeratosis congenita.

Thomas J. Vulliamy, PhD, MRCPath, from Barts and the London School of Medicine and Dentistry, presented this finding at the 13th Congress of the European Hematology Association.

Dyskeratosis congenita is a genetically heterogeneous, multisystem disorder. The unifying feature of dyskeratosis congenita is that all mutations identified thus far affect molecules involved in telomere maintenance. Defective telomerase leads to premature aging, bone marrow failure, and a predisposition to 32 cancers.

Investigators analyzed the proteins NHP2 and GAR1 using high performance liquid chromatography screening followed by direct DNA sequencing. NHP2 and GAR1 are key components of telomerase, along with dyskerin and NOP10, and small nucleolar ribonucleoprotein (snoRNP) complexes.

Investigators measured telomere lengths by Southern blot analysis and assessed TERC levels and the effects of siRNA knockdown of gene transcripts using quantitative real-time PCR.

Dr Vulliamy and colleagues found that mutations in NHP2 can cause autosomal recessive dyskeratosis congenita. Patients with NHP2, dyskerin, and NOP10 mutations have short telomeres and low TERC levels.

Investigators concluded that this provided direct evidence of their role in telomere maintenance in humans. They did not find any GAR1 mutations, suggesting that GAR1 has a different impact on the accumulation of TERC.

This abstract was chosen as one of the 5 best of the Congress.