Rocio T. Moran, MD

Suppose a new patient walks into your office for a routine physical examination. As part of your discussion, you ask about her family history. She relates that her grandmother and uncle had colon cancer.

You know that colon cancer can be hereditary, but you are unsure whether this patient’s family history is significant. You know genetic testing can be ordered, but you only have 15 minutes with the patient and you are unsure which test is appropriate and how it can be ordered. What should you do next?

With advances in genetics and genomics have come expectations that health care providers understand and apply these discoveries to patient care. Identification of a genetic diagnosis can lead to personalized treatment and intensive screening, which can reduce the patient’s risk of contracting the disease in question or dying of it.^1,2 But genetic testing may also take patients on an emotional journey as they adjust to learning new information about themselves and the health care implications such a diagnosis may have for themselves and their family members.

Genetic counseling is an important component of risk assessment and testing. With increasing demands and shorter appointment times, physicians are finding it harder to provide comprehensive risk assessment and genetic counseling.^3–5 Just as “physician extenders” have helped streamline various aspects of health care, genetic counselors can serve as partners to physicians, from helping determine which testing to consider to helping guide follow-up care after test results are received.

Genetic counselors can help not only patients who have a personal or family history of a hereditary condition, but also their physicians and family members. This article will explain the process of genetic counseling and testing, highlight complexities through case examples, and provide a brief review outlining which patients should be referred for genetic counseling.

WHAT IS GENETIC COUNSELING?

The National Society of Genetic Counselors defines genetic counseling as “the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.”⁶ The process includes:

Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence
Education about inheritance, testing, management, prevention, resources, and research
Counseling to promote informed choices and adaptation to the risk or condition.⁶

WHAT HAPPENS DURING A COUNSELING SESSION?

The goals and outcomes of a successful genetic counseling session (Table 1) reflect the need for genetic counselors to not only give patients enough information to understand what is being discussed, but also to monitor their emotional responses and respond to their needs for support.⁷ The components of a typical genetic counseling session include:

Contracting (reviewing why the patient is here)
Reviewing the patient’s personal medical history
Documenting relevant diagnoses in the family history
Educating about the condition in question and relevant basic information about genetics
If testing is indicated, educating about what the test will and will not tell the patient
If test results are being discussed, discussing the implications of the results for the patient’s management and the utility of testing for relatives
Identifying additional sources of support and education for patients, such as disease-specific support groups
Making sure the patient understands the information provided
Monitoring the patient’s emotional and psychological reactions and responding appropriately.

Before the visit, which may last from 30 minutes to several hours, the genetic counselor reviews the patient’s available medical information, performs a literature search covering relevant topics, and prepares supporting educational resources such as visual aids. After the visit, the genetic counselor contacts the patient to discuss the results of any tests ordered, makes sure the follow-up plan is clear, and arranges return visits if these are indicated. Studies have shown that these nonbillable patient-related activities take at least as much time as the actual patient visit.^8,9

EVIDENCE THAT GENETIC COUNSELING IS BENEFICIAL

Although genetic counseling may be time-consuming, its benefits to patients have been proven in a number of studies.

Improved patient knowledge. Three controlled trials found a significant increase in knowledge about cancer genetics in patients who received genetic counseling as part of their clinical services.^10–12 Additionally, a large prospective multicenter study found a continued significant increase in cancer genetics knowledge in women who had received genetic counseling for inherited breast cancer risk 1 year earlier.¹³

More accurate perception of risk. A meta-analysis of three studies found a significant increase in the accuracy of breast cancer risk perceptions among women who had received genetic counseling.¹⁴

Improved psychosocial outcomes. Anxiety was reduced in 82% of parents who received genetic counseling after screening of their newborn was positive for hemoglobinopathy trait.¹⁵ And 1 year after genetic counseling, parents of patients with psychotic disorders reported reduced anxiety as a result of an increased understanding of accurate recurrence risks.¹⁶

Improved risk-reducing behaviors. Increased genetic counseling support led to improved communication and increased contact with genetics services for at-risk family members.¹⁷ Genetic counseling also led to higher rates of mammography, clinical breast examination, and breast self-examination.¹⁸

WHO ARE GENETIC COUNSELORS?

Genetic counselors are allied health professionals with a master’s degree and with specific expertise in identifying and educating patients at risk for inherited conditions. They are certified through the American Board of Genetic Counseling. Genetic counseling is a licensed profession in many states,¹⁹ and licensure legislation is pending in several others.

HOW GENETIC COUNSELORS FACILITATE DIFFICULT COMPONENTS OF GENETIC TESTING

Genetic counselors can serve as complementary practitioners who possess the time and expertise to discuss some of the more complex components of the genetic testing process, further discussed here.

Making sure that testing is appropriate and that the right test is ordered

Let us revisit our introductory scenario—a patient presents to your office and relates a family history of colon cancer. What would you do if she then says, “I know there’s a gene for colon cancer; I want that test today so I can know if I’m at risk.” You get the sense that the patient is anxious and determined to get this testing done today. Which of the following would you do?

Say “OK,” enter “colon cancer gene” in your hospital’s laboratory ordering system, and pray that the results are normal.
Remember that a representative from a genetic testing company came by your office and left sample collection kits. Say “OK,” draw the patient’s blood in the tubes provided, check off testing for “comprehensive colorectal genetics panel,” and pray the results are normal.
Tell the patient: “Most colon cancers are not necessarily caused by an inherited syndrome. However, a detailed analysis of your family history seems warranted. There are many genes that can play a role in inherited colon cancer risk, and I want to make sure the right test is done for the right person in your family. I’m going to refer you to a genetic counselor who can take a detailed family history and discuss the risks and benefits of genetic testing with you.” You make the referral and within 1 or 2 weeks, your patient is seen for genetic counseling.

If you chose ‘colon cancer gene’ testing

The phlebotomy and laboratory personnel at your facility are likely unsure what kind of sample to draw and where it should be sent. As of this writing, at least 14 genes have been associated with a risk of colorectal cancer, and testing for these genes is available through dozens of laboratories across the country.

In this scenario, your hospital does not have sufficient information to follow through on your orders, and someone pages you to discuss it. However, you are in the midst of a busy clinic and are not able to return the page promptly, so the laboratory informs the patient that it cannot draw her blood for testing today. The patient leaves feeling angry and upset.

If you chose commercial genetic testing

You may have just ordered testing for four of the genes known to cause Lynch syndrome, an inherited condition predisposing to colon, uterine, and a few other cancer types. While testing like this may be labeled as “comprehensive,” it may not include all disorders associated with colon cancer. Such shotgun approaches to patient care without consideration of family history can often lead to ordering genetic testing that may be not only medically unnecessary, but also not reimbursable by insurance companies.

Continuing with the case above, the patient’s insurance company determines that testing is not medically necessary, and she is billed for the entire cost of more than $4,400. Her results are normal, and she feels reassured that she is not at increased risk of colon cancer.

A year later, the patient phones you to say that her uncle had genetic testing with positive results. She sends you the letter she received along with the genetic counselor’s clinic note—the uncle’s mutation is in a completely different gene from the ones you tested. While she was previously told she was at low risk, the appropriate site-specific genetic test (average cost range $185–$450) to target the specific mutation is positive, and she is at increased risk of colon cancer, but is now able to pursue increased screening to reduce her risks of developing and dying from this disease.

If the patient had not been made aware of her uncle’s results, she may not have received this screening. If she were diagnosed with later-stage colon cancer after developing symptoms, she may feel you are liable for this diagnosis based on her perception that she was not at risk according to the previously negative genetic testing results ordered by you. After learning about her family history and that the right test was not ordered for her, the patient pursues legal action.

If you chose genetic counseling

If you chose to refer the patient for genetic counseling, congratulations! Your patient is seen for risk assessment and genetic counseling.

As part of the genetic counseling session, a comprehensive family history identifies the patient’s uncle who was diagnosed with colon cancer. He was previously seen for genetics assessment and was found to have a mutation in the APC gene, predisposing him to familial adenomatous polyposis. Site-specific testing, which the genetic counselor is able to get covered by the patient’s insurance through a letter of medical necessity, reveals that your patient shares her uncle’s mutation. As indicated by national guidelines, you refer the patient to a gastroenterologist for medical management, which will significantly reduce her chances of developing and dying of colorectal cancer.

It is preferable to see the family member at highest risk for an inherited condition—usually, but not always the affected relative—for genetic consultation first. During the consultation the genetic counselor would decide which syndrome, if any, is the best fit for the family.

If the affected relative tests positive, targeted and less costly testing for the specific mutation identified (ie, site-specific testing) can then be offered to family members to provide a yes-or-no answer as to their risk status.

If the relative most likely to be gene-positive tests negative, no genetic testing would be recommended for family members, as the genetic cause of the cancer in the family is unknown. In this situation, family members may be advised to pursue the same screening measures as those with a positive gene test due to their strong family history.

INFORMED CONSENT FOR GENETIC TESTING

Genetic testing consists of much more than a simple blood draw. Obtaining informed consent for genetic testing is a crucial step in the testing process, as the results can be complex and often affect multiple family members. When predictive genetic testing is being discussed, special conversations need to take place to make sure that decisions are well informed. Genetic counselors can facilitate these discussions and guide patients and families through the decision-making process.

Example: Huntington disease

The need for genetic counseling before predictive testing is best illustrated by Huntington disease, a progressive neurodegenerative disorder with typical onset in the third or fourth decade of life. Over the disease course, patients experience decreases in motor control (leading to the aptly named “Huntington chorea”), cognitive decline, and changes in psychiatric state. Ultimately, most patients die 15 to 20 years after the onset of symptoms. Treatment is palliative and symptom-based.

Huntington disease is inherited in an autosomal dominant manner, meaning that each child of an affected person has a 50% risk of inheriting the gene change responsible for this condition and of eventually developing the disease. It is caused by an expansion within the HD gene; this expansion may grow with successive generations, leading to earlier onset of symptoms.²⁰

The availability of predictive testing—which enables people who are at risk but who are without symptoms to find out their genetic status—ultimately leads each at-risk person to ask herself or himself, Do I want to know? Studies have found that only 15% to 67% of offspring of parents with Huntington disease (offspring are at 50% risk of the disease) elected to be tested, and in one longitudinal study, this rate of “uptake” decreased over time.^21,22 However, any estimates of uptake may be falsely elevated, given the likelihood that those not wishing to consider testing may not feel the need for a clinical visit focused on this subject.

After predictive testing became available, an increased risk of suicide in persons at risk of Huntington disease was documented.^23,24 In view of this risk and the careful decision-making support that people at risk need, predictive testing guidelines were developed by a committee of medical experts and members of Huntington disease family organizations.²⁵ As part of the guidelines, a multivisit pretesting process was established that includes extensive education and counseling. Delay of testing is recommended when contraindications are identified, such as evidence of coercion or a serious psychiatric condition. Most genetic testing companies offering predictive testing require a signature from the ordering clinician verifying that pretest counseling has been completed; some also include a provision that the ordering clinician will relay results to the patient in person.

More than 15 years after these guidelines were adopted, a study of suicide risk in at-risk persons continued to find rates higher than in the general population, but lower than in earlier studies.²⁶ Whether this careful pretest counseling protocol is directly related to a possible decrease in suicide risk has yet to be established, but its successful use in patients undergoing predictive Huntington disease testing has led to its adoption in other neurodegenerative diseases such as Alzheimer disease and Parkinson disease.

EXPLAINING POSITIVE GENETIC TESTING RESULTS

If genetic testing identifies a mutation, genetic counselors can help patients understand the implications of the results for themselves and for their relatives. Some patients become quite inquisitive, and the genetic counseling session morphs into a graduate-level discussion of genes, DNA, disease pathways, genetic-environmental interactions, availability of gene therapy, and clinical trials. The genetic counselor also makes the patient aware of other resources, such as disease-specific support groups, which may be developed by patients and families to provide support and practical knowledge.

In some cases, attention turns to at-risk relatives, and the genetic counselor may role-play with the patient to rehearse ways to share information with them. Genetic counselors may give patients a letter to distribute to family members with a copy of the patient’s test results, briefly explaining the condition identified and how relatives may find a genetic counselor in their area for their own risk assessment.

WHAT ABOUT GENETIC DISCRIMINATION?

Genetic discrimination is addressed in many genetic counseling sessions.

As defined by the National Human Genome Research Institute, genetic discrimination is “prejudice directed against people who have or may have a genetic disease.”²⁷

In May 2008, the Genetic Information Nondiscrimination Act (GINA) was signed into law, providing some legal protections against genetic discrimination for patients undergoing predictive genetic testing. The law applies to most employers and health insurers but does not protect against discrimination by life or disability insurers. When discussing genetic testing, genetic counselors ensure that patients are aware of their rights and protections.

GINA would not be relevant for a patient who has a medical condition that may affect his or her insurability. For example, someone with thyroid cancer who is found to have an underlying gene mutation may still be denied any type of insurance coverage on the basis of his or her personal cancer diagnosis. However, should that person’s son who has not been diagnosed with cancer opt to undergo predictive testing, GINA would provide protection against employment and health insurance discrimination, as described above.

DIRECT-TO-CONSUMER GENETIC TESTING

As DNA technology has become increasingly complex, so has the task of understanding new tests and their clinical relevance to patients.

In the last several years, more companies have begun to offer direct-to-consumer genetic testing, which may be ordered without the involvement of a health care professional. While some companies hire or work closely with genetic counselors to conduct pretest and posttest genetic counseling, others do not, and preliminary research has found that only a minority of primary care physicians feel prepared to answer patients’ questions about direct-to-consumer genetic testing.²⁸

Genetic counselors stay abreast of emerging technologies and are prepared to answer questions from patients who are considering or have already undergone such testing and from physicians who may wonder if a patient’s direct-to-consumer genetic testing results should affect his or her management.

Direct-to-consumer genetic testing will be discussed in depth in a future article in this series.

EXPLAINING ‘NORMAL’ (NEGATIVE) GENETIC TEST RESULTS

When testing results are normal, patients are educated about the meaning of “normal” results, the residual risk, and screening that might be appropriate in each person’s situation.

Sometimes a normal result does not mean the patient is not at risk for disease—for most diseases, genetic testing is not perfect and cannot identify a mutation in every at-risk family. Patients who have a family history of certain conditions may still face a higher risk despite normal test results. In these situations it is imperative that the family continue to adhere to follow-up recommendations even with normal test results.

Example: Marfan syndrome

Marfan syndrome is an autosomal dominant connective tissue disorder that, if unrecognized, is associated with significant morbidity and mortality. People with Marfan syndrome are at increased risk of aortic aneurysms, which can rupture spontaneously, leading to sudden death.

Although at least 70% of patients with Marfan syndrome have a mutation in FBN1, other patients meeting the clinical diagnostic criteria do not. Despite a normal genetic test result, they should adhere to the same screening guidelines as a person who tests positive.²⁹

This concept—that screening should still be done despite a normal “Marfan test”—may be difficult for patients to grasp without a discussion of the imperfect sensitivity of genetic testing and of their real ongoing risks. Even more difficult to understand is the idea that the patient’s family members should also be screened as though they have the disease, given that the family’s mutation is unknown and predictive testing cannot be conducted.

Further complicating matters, other disorders such as Loeys-Dietz and vascular Ehlers-Danlos syndrome can mimic Marfan syndrome by causing aortic aneurysms, but management recommendations for them are very different.^30,31

The appropriate genetic diagnosis for patients with aortic aneurysms can be facilitated by referring them to genetic counselors, who can identify appropriate testing. In this way, physicians can personalize medical management and give screening recommendations specific to the genetic disorder present.

EXPLAINING UNCERTAIN RESULTS

There are three possible results for most genetic tests—positive (a pathogenic or disease-causing mutation was found), negative (normal), and the frustrating “variant of uncertain significance” (VUS).

A VUS result means that an abnormality was detected in the gene, but that there are insufficient data about whether the abnormality alters the function of the gene in question and, thus, leads to disease. Since some gene variants are known to be common in the general population and not linked to disease and others are known to definitely alter a gene’s function and cause disease, a VUS that is clearly unknown poses a challenge not only to patient management, but also to family members seeking personal risk assessments.

Knowledge of how or if specific variants relate to disease is emerging. In time, some variants become reclassified as either disease-causing mutations or benign polymorphisms. However, careful consideration needs to be given to how to explain the abnormal result to the patient and to at-risk family members, as well as to how to explain the clinical implications of the VUS.

Example: Hereditary breast and ovarian cancer syndrome

People with hereditary breast and ovarian cancer syndrome face a lifetime risk of breast cancer of up to 87% and a risk of ovarian cancer of up to 44%. Most families with this syndrome have an inherited change in either the BRCA1 or BRCA2 gene.^32,33 Given these risks, prophylactic mastectomy and oophorectomy are among the management options for mutation-positive patients. In the absence of clear genetic counseling, a patient with a VUS might see the “abnormal” test result and believe herself to be mutation-positive and thus at very high cancer risk.

An important role for the genetic counselor is to clarify the pathogenicity of a particular VUS. When a VUS is found, genetic counselors search for information about the variant by reviewing the medical literature, discussing it with the testing laboratory, arranging for family studies when appropriate, and contacting researchers whose work focuses on the gene in question.

Failure to properly research a particular VUS can lead to unnecessary and risky surgical procedures, as well as to falsely labelling relatives as being at risk. Until a VUS is reclassified as a disease-causing mutation, testing for it should not be offered to family members (unless through a research study), nor should medical management be based solely on the results of a particular VUS. In time, a VUS may be reclassified as either a benign polymorphism or a disease-causing mutation, and the genetic counselor will recontact the patient and physician with updated information and recommendations.

WHOM SHOULD I REFER?

Genetic counseling is available for patients and families in diverse settings within health systems. The six primary areas of practice are general, cardiovascular, cancer, preconception, prenatal, and pediatrics.

Patients with a personal or family history of a hereditary condition can benefit from genetic counseling regardless of whether they would be considered appropriate for genetic testing.³⁴

At current count, there are 4,424 genetic disorders for which the underlying cause has been identified.³⁵ Individually, each disorder is rare, but when they are considered as a whole, they affect a significant minority of the general population. It is estimated that before age 25 years, 53 (5.3%) of every 1,000 people will be diagnosed with a disease that has an important genetic component.³⁶ From 20% to 30% of infant deaths are related to a genetic disorder,^37,38 and 22% of unaffected adults have a family history of cancer significant enough to warrant a genetics referral.³⁹ See Table 2 for a list of common indications for referral.

HOW CAN I FIND GENETIC COUNSELING SERVICES?

The National Society of Genetic Counselors (www.nsgc.org) and American Board of Genetic Counseling (www.abgc.net) both provide searchable databases of registered genetic counselors.

KNOWLEDGE CONTINUES TO EXPAND

Genetic knowledge continues to expand, and testing is becoming available for a growing number of medical conditions. Appropriate identification of individuals with and at risk for genetic disorders through the use of genetic testing and screening is a cornerstone of personalized medicine, with the ultimate goal of improving patient outcomes. However, in this era of value-based medicine and fewer health care dollars, genetic testing must be used in a way that maximizes its clinical impact with a careful fiscal approach.

Genetic counselors are specially trained health care professionals with expertise in genetic and genomic medicine who work in collaboration with physicians to guide patients through the complexities of heritable conditions and emerging technologies. They are trained to personalize, interpret, and communicate complex science into data that will assure best outcomes for patients and their families. Developing a partnership with the genetic counselors in your area can provide multiple benefits to your patients as well as to your own practice.

References

Domchek SM, Friebel TM, Singer CF, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 2010; 304:967–975.
Hunt SC, Gwinn M, Adams TD. Family history assessment: strategies for prevention of cardiovascular disease. Am J Prev Med 2003; 24:136–142.
Wood ME, Stockdale A, Flynn BS. Interviews with primary care physicians regarding taking and interpreting the cancer family history. Fam Pract 2008; 25:334–340.
Bellcross CA, Kolor K, Goddard KA, Coates RJ, Reyes M, Khoury MJ. Awareness and utilization of BRCA1/2 testing among U.S. primary care physicians. Am J Prev Med 2011; 40:61–66.
Hindorff LA, Burke W, Laberge AM, et al. Motivating factors for physician ordering of factor V Leiden genetic tests. Arch Intern Med 2009; 169:68–74.
National Society of Genetic Counselors. Definition of genetic counseling. www.nsgc.org/About/FAQsDefinitions/tabid/97/Default.aspx. Accessed June 4, 2012.
Bernhardt BA, Biesecker BB, Mastromarino CL. Goals, benefits, and outcomes of genetic counseling: client and genetic counselor assessment. Am J Med Genet 2000; 94:189–197.
Bernhardt BA, Pyeritz RE. The economics of clinical genetics services. III. Cognitive genetics services are not self-supporting. Am J Hum Genet 1989; 44:288–293.
McPherson E, Zaleski C, Benishek K, et al. Clinical genetics provider real-time workflow study. Genet Med 2008; 10:699–706.
Brain K, Gray J, Norman P, et al. Randomized trial of a specialist genetic assessment service for familial breast cancer. J Natl Cancer Inst 2000; 92:1345–1351.
Lerman C, Biesecker B, Benkendorf JL, et al. Controlled trial of pretest education approaches to enhance informed decision-making for BRCA1 gene testing. J Natl Cancer Inst 1997; 89:148–157.
Randall J, Butow P, Kirk J, Tucker K. Psychological impact of genetic counselling and testing in women previously diagnosed with breast cancer. Intern Med J 2001; 31:397–405.
Meiser B, Butow PN, Barratt AL, et al; Psychological Impact Collaborative Group. Long-term outcomes of genetic counseling in women at increased risk of developing hereditary breast cancer. Patient Educ Couns 2001; 44:215–225.
Meiser B, Halliday JL. What is the impact of genetic counselling in women at increased risk of developing hereditary breast cancer? A meta-analytic review. Soc Sci Med 2002; 54:1463–1470.
Kladny B, Williams A, Gupta A, Gettig EA, Krishnamurti L. Genetic counseling following the detection of hemoglobinopathy trait on the newborn screen is well received, improves knowledge, and relieves anxiety. Genet Med 2011; 13:658–661.
Austin JC, Honer WG. Psychiatric genetic counselling for parents of individuals affected with psychotic disorders: a pilot study. Early Interv Psychiatry 2008; 2:80–89.
Forrest LE, Burke J, Bacic S, Amor DJ. Increased genetic counseling support improves communication of genetic information in families. Genet Med 2008; 10:167–172.
Watson M, Kash KM, Homewood J, Ebbs S, Murday V, Eeles R. Does genetic counseling have any impact on management of breast cancer risk? Genet Test 2005; 9:167–174.
National Conference of State Legislatures. Genetic counselor licensing. www.ncsl.org/issues-research/health/genetic-counselor-licensing-laws.aspx. Accessed June 4, 2012.
Roos RA. Huntington’s disease: a clinical review. Orphanet J Rare Dis 2010; 5:40.
Morrison PJ, Harding-Lester S, Bradley A. Uptake of Huntington disease predictive testing in a complete population. Clin Genet 2011; 80:281–286.
Bernhardt C, Schwan AM, Kraus P, Epplen JT, Kunstmann E. Decreasing uptake of predictive testing for Huntington’s disease in a German centre: 12 years’ experience (1993–2004). Eur J Hum Genet 2009; 17:295–300.
Di Maio L, Squitieri F, Napolitano G, Campanella G, Trofatter JA, Conneally PM. Suicide risk in Huntington’s disease. J Med Genet 1993; 30:293–295.
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Powell KP, Cogswell WA, Christianson CA, et al. Primary care physicians’ awareness, experience, and opinions of direct-to-consumer genetic testing. J Genet Couns 2011; (Epub ahead of print.)
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Jessica L. Mester, MS, CGC
Certified Genetic Counselor, Genomic Medicine Institute, Cleveland Clinic

Allison H. Schreiber, MS, CGC
Certified Genetic Counselor, Genomic Medicine Institute, Cleveland Clinic

Rocio T. Moran, MD
Genomic Medicine Institute and Pediatric Institute, Cleveland Clinic

Address: Jessica Mester, MS, Certified Genetic Counselor, Genomic Medicine Institute, NE50, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195; e-mail mesterj@ccf.org

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Certified Genetic Counselor, Genomic Medicine Institute, Cleveland Clinic

Allison H. Schreiber, MS, CGC
Certified Genetic Counselor, Genomic Medicine Institute, Cleveland Clinic

Rocio T. Moran, MD
Genomic Medicine Institute and Pediatric Institute, Cleveland Clinic

Address: Jessica Mester, MS, Certified Genetic Counselor, Genomic Medicine Institute, NE50, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195; e-mail mesterj@ccf.org

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Certified Genetic Counselor, Genomic Medicine Institute, Cleveland Clinic

Allison H. Schreiber, MS, CGC
Certified Genetic Counselor, Genomic Medicine Institute, Cleveland Clinic

Rocio T. Moran, MD
Genomic Medicine Institute and Pediatric Institute, Cleveland Clinic

Address: Jessica Mester, MS, Certified Genetic Counselor, Genomic Medicine Institute, NE50, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195; e-mail mesterj@ccf.org

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WHAT IS GENETIC COUNSELING?

Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence
Education about inheritance, testing, management, prevention, resources, and research
Counseling to promote informed choices and adaptation to the risk or condition.⁶

WHAT HAPPENS DURING A COUNSELING SESSION?

Contracting (reviewing why the patient is here)
Reviewing the patient’s personal medical history
Documenting relevant diagnoses in the family history
Educating about the condition in question and relevant basic information about genetics
If testing is indicated, educating about what the test will and will not tell the patient
If test results are being discussed, discussing the implications of the results for the patient’s management and the utility of testing for relatives
Identifying additional sources of support and education for patients, such as disease-specific support groups
Making sure the patient understands the information provided
Monitoring the patient’s emotional and psychological reactions and responding appropriately.

EVIDENCE THAT GENETIC COUNSELING IS BENEFICIAL

Although genetic counseling may be time-consuming, its benefits to patients have been proven in a number of studies.

WHO ARE GENETIC COUNSELORS?

HOW GENETIC COUNSELORS FACILITATE DIFFICULT COMPONENTS OF GENETIC TESTING

Genetic counselors can serve as complementary practitioners who possess the time and expertise to discuss some of the more complex components of the genetic testing process, further discussed here.

Making sure that testing is appropriate and that the right test is ordered

Say “OK,” enter “colon cancer gene” in your hospital’s laboratory ordering system, and pray that the results are normal.
Remember that a representative from a genetic testing company came by your office and left sample collection kits. Say “OK,” draw the patient’s blood in the tubes provided, check off testing for “comprehensive colorectal genetics panel,” and pray the results are normal.
Tell the patient: “Most colon cancers are not necessarily caused by an inherited syndrome. However, a detailed analysis of your family history seems warranted. There are many genes that can play a role in inherited colon cancer risk, and I want to make sure the right test is done for the right person in your family. I’m going to refer you to a genetic counselor who can take a detailed family history and discuss the risks and benefits of genetic testing with you.” You make the referral and within 1 or 2 weeks, your patient is seen for genetic counseling.

If you chose ‘colon cancer gene’ testing

If you chose commercial genetic testing

If you chose genetic counseling

If you chose to refer the patient for genetic counseling, congratulations! Your patient is seen for risk assessment and genetic counseling.

INFORMED CONSENT FOR GENETIC TESTING

Example: Huntington disease

EXPLAINING POSITIVE GENETIC TESTING RESULTS

WHAT ABOUT GENETIC DISCRIMINATION?

Genetic discrimination is addressed in many genetic counseling sessions.

As defined by the National Human Genome Research Institute, genetic discrimination is “prejudice directed against people who have or may have a genetic disease.”²⁷

DIRECT-TO-CONSUMER GENETIC TESTING

As DNA technology has become increasingly complex, so has the task of understanding new tests and their clinical relevance to patients.

Direct-to-consumer genetic testing will be discussed in depth in a future article in this series.

EXPLAINING ‘NORMAL’ (NEGATIVE) GENETIC TEST RESULTS

When testing results are normal, patients are educated about the meaning of “normal” results, the residual risk, and screening that might be appropriate in each person’s situation.

Example: Marfan syndrome

EXPLAINING UNCERTAIN RESULTS

Example: Hereditary breast and ovarian cancer syndrome

WHOM SHOULD I REFER?

Patients with a personal or family history of a hereditary condition can benefit from genetic counseling regardless of whether they would be considered appropriate for genetic testing.³⁴

HOW CAN I FIND GENETIC COUNSELING SERVICES?

The National Society of Genetic Counselors (www.nsgc.org) and American Board of Genetic Counseling (www.abgc.net) both provide searchable databases of registered genetic counselors.

KNOWLEDGE CONTINUES TO EXPAND

WHAT IS GENETIC COUNSELING?

Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence
Education about inheritance, testing, management, prevention, resources, and research
Counseling to promote informed choices and adaptation to the risk or condition.⁶

WHAT HAPPENS DURING A COUNSELING SESSION?

Contracting (reviewing why the patient is here)
Reviewing the patient’s personal medical history
Documenting relevant diagnoses in the family history
Educating about the condition in question and relevant basic information about genetics
If testing is indicated, educating about what the test will and will not tell the patient
If test results are being discussed, discussing the implications of the results for the patient’s management and the utility of testing for relatives
Identifying additional sources of support and education for patients, such as disease-specific support groups
Making sure the patient understands the information provided
Monitoring the patient’s emotional and psychological reactions and responding appropriately.

EVIDENCE THAT GENETIC COUNSELING IS BENEFICIAL

Although genetic counseling may be time-consuming, its benefits to patients have been proven in a number of studies.

WHO ARE GENETIC COUNSELORS?

HOW GENETIC COUNSELORS FACILITATE DIFFICULT COMPONENTS OF GENETIC TESTING

Genetic counselors can serve as complementary practitioners who possess the time and expertise to discuss some of the more complex components of the genetic testing process, further discussed here.

Making sure that testing is appropriate and that the right test is ordered

Say “OK,” enter “colon cancer gene” in your hospital’s laboratory ordering system, and pray that the results are normal.
Remember that a representative from a genetic testing company came by your office and left sample collection kits. Say “OK,” draw the patient’s blood in the tubes provided, check off testing for “comprehensive colorectal genetics panel,” and pray the results are normal.
Tell the patient: “Most colon cancers are not necessarily caused by an inherited syndrome. However, a detailed analysis of your family history seems warranted. There are many genes that can play a role in inherited colon cancer risk, and I want to make sure the right test is done for the right person in your family. I’m going to refer you to a genetic counselor who can take a detailed family history and discuss the risks and benefits of genetic testing with you.” You make the referral and within 1 or 2 weeks, your patient is seen for genetic counseling.

If you chose ‘colon cancer gene’ testing

If you chose commercial genetic testing

If you chose genetic counseling

If you chose to refer the patient for genetic counseling, congratulations! Your patient is seen for risk assessment and genetic counseling.

INFORMED CONSENT FOR GENETIC TESTING

Example: Huntington disease

EXPLAINING POSITIVE GENETIC TESTING RESULTS

WHAT ABOUT GENETIC DISCRIMINATION?

Genetic discrimination is addressed in many genetic counseling sessions.

As defined by the National Human Genome Research Institute, genetic discrimination is “prejudice directed against people who have or may have a genetic disease.”²⁷

DIRECT-TO-CONSUMER GENETIC TESTING

As DNA technology has become increasingly complex, so has the task of understanding new tests and their clinical relevance to patients.

Direct-to-consumer genetic testing will be discussed in depth in a future article in this series.

EXPLAINING ‘NORMAL’ (NEGATIVE) GENETIC TEST RESULTS

When testing results are normal, patients are educated about the meaning of “normal” results, the residual risk, and screening that might be appropriate in each person’s situation.

Example: Marfan syndrome

EXPLAINING UNCERTAIN RESULTS

Example: Hereditary breast and ovarian cancer syndrome

WHOM SHOULD I REFER?

Patients with a personal or family history of a hereditary condition can benefit from genetic counseling regardless of whether they would be considered appropriate for genetic testing.³⁴

HOW CAN I FIND GENETIC COUNSELING SERVICES?

The National Society of Genetic Counselors (www.nsgc.org) and American Board of Genetic Counseling (www.abgc.net) both provide searchable databases of registered genetic counselors.

KNOWLEDGE CONTINUES TO EXPAND

References

Domchek SM, Friebel TM, Singer CF, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 2010; 304:967–975.
Hunt SC, Gwinn M, Adams TD. Family history assessment: strategies for prevention of cardiovascular disease. Am J Prev Med 2003; 24:136–142.
Wood ME, Stockdale A, Flynn BS. Interviews with primary care physicians regarding taking and interpreting the cancer family history. Fam Pract 2008; 25:334–340.
Bellcross CA, Kolor K, Goddard KA, Coates RJ, Reyes M, Khoury MJ. Awareness and utilization of BRCA1/2 testing among U.S. primary care physicians. Am J Prev Med 2011; 40:61–66.
Hindorff LA, Burke W, Laberge AM, et al. Motivating factors for physician ordering of factor V Leiden genetic tests. Arch Intern Med 2009; 169:68–74.
National Society of Genetic Counselors. Definition of genetic counseling. www.nsgc.org/About/FAQsDefinitions/tabid/97/Default.aspx. Accessed June 4, 2012.
Bernhardt BA, Biesecker BB, Mastromarino CL. Goals, benefits, and outcomes of genetic counseling: client and genetic counselor assessment. Am J Med Genet 2000; 94:189–197.
Bernhardt BA, Pyeritz RE. The economics of clinical genetics services. III. Cognitive genetics services are not self-supporting. Am J Hum Genet 1989; 44:288–293.
McPherson E, Zaleski C, Benishek K, et al. Clinical genetics provider real-time workflow study. Genet Med 2008; 10:699–706.
Brain K, Gray J, Norman P, et al. Randomized trial of a specialist genetic assessment service for familial breast cancer. J Natl Cancer Inst 2000; 92:1345–1351.
Lerman C, Biesecker B, Benkendorf JL, et al. Controlled trial of pretest education approaches to enhance informed decision-making for BRCA1 gene testing. J Natl Cancer Inst 1997; 89:148–157.
Randall J, Butow P, Kirk J, Tucker K. Psychological impact of genetic counselling and testing in women previously diagnosed with breast cancer. Intern Med J 2001; 31:397–405.
Meiser B, Butow PN, Barratt AL, et al; Psychological Impact Collaborative Group. Long-term outcomes of genetic counseling in women at increased risk of developing hereditary breast cancer. Patient Educ Couns 2001; 44:215–225.
Meiser B, Halliday JL. What is the impact of genetic counselling in women at increased risk of developing hereditary breast cancer? A meta-analytic review. Soc Sci Med 2002; 54:1463–1470.
Kladny B, Williams A, Gupta A, Gettig EA, Krishnamurti L. Genetic counseling following the detection of hemoglobinopathy trait on the newborn screen is well received, improves knowledge, and relieves anxiety. Genet Med 2011; 13:658–661.
Austin JC, Honer WG. Psychiatric genetic counselling for parents of individuals affected with psychotic disorders: a pilot study. Early Interv Psychiatry 2008; 2:80–89.
Forrest LE, Burke J, Bacic S, Amor DJ. Increased genetic counseling support improves communication of genetic information in families. Genet Med 2008; 10:167–172.
Watson M, Kash KM, Homewood J, Ebbs S, Murday V, Eeles R. Does genetic counseling have any impact on management of breast cancer risk? Genet Test 2005; 9:167–174.
National Conference of State Legislatures. Genetic counselor licensing. www.ncsl.org/issues-research/health/genetic-counselor-licensing-laws.aspx. Accessed June 4, 2012.
Roos RA. Huntington’s disease: a clinical review. Orphanet J Rare Dis 2010; 5:40.
Morrison PJ, Harding-Lester S, Bradley A. Uptake of Huntington disease predictive testing in a complete population. Clin Genet 2011; 80:281–286.
Bernhardt C, Schwan AM, Kraus P, Epplen JT, Kunstmann E. Decreasing uptake of predictive testing for Huntington’s disease in a German centre: 12 years’ experience (1993–2004). Eur J Hum Genet 2009; 17:295–300.
Di Maio L, Squitieri F, Napolitano G, Campanella G, Trofatter JA, Conneally PM. Suicide risk in Huntington’s disease. J Med Genet 1993; 30:293–295.
Schoenfeld M, Myers RH, Cupples LA, Berkman B, Sax DS, Clark E. Increased rate of suicide among patients with Huntington’s disease. J Neurol Neurosurg Psychiatry 1984; 47:1283–1287.
International Huntington Association and the World Federation of Neurology Research Group on Huntington’s Chorea. Guidelines for the molecular genetics predictive test in Huntington’s disease. J Med Genet 1994; 31:555–559.
Fiedorowicz JG, Mills JA, Ruggle A, Langbehn D, Paulsen JS; PREDICT-HD Investigators of the Huntington Study Group. Suicidal behavior in prodromal Huntington disease. Neurodegener Dis 2011; 8:483–490.
National Institutes of Health. Definition of genetic discrimination. www.genome.gov/Glossary/index.cfm?id=80. Accessed June 4, 2012.
Powell KP, Cogswell WA, Christianson CA, et al. Primary care physicians’ awareness, experience, and opinions of direct-to-consumer genetic testing. J Genet Couns 2011; (Epub ahead of print.)
Dietz HC. Marfan syndrome. In:Pagon RA, Bird TD, Dolan CR, et aleditors. GeneReviews. Seattle, WA: University of Washington; 1993.
Williams JA, Loeys BL, Nwakanma LU, et al. Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg 2007; 83:S757–5763.
Oderich GS, Panneton JM, Bower TC, et al. The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience. J Vasc Surg 2005; 42:98–106.
Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1998; 62:676–689.
Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet 1994; 343:692–695.
Trepanier A, Ahrens M, McKinnon W, et al; National Society of Genetic Counselors. Genetic cancer risk assessment and counseling: recommendations of the National Society of Genetic Counselors. J Genet Couns 2004; 13:83–114.
Johns Hopkins University. OMIM entry statistics. http://omim.org/statistics/entries. Accessed June 4, 2012.
Baird PA, Anderson TW, Newcombe HB, Lowry RB. Genetic disorders in children and young adults: a population study. Am J Hum Genet 1988; 42:677–693.
Berry RJ, Buehler JW, Strauss LT, Hogue CJ, Smith JC. Birth weight-specific infant mortality due to congenital anomalies, 1960 and 1980. Public Health Rep 1987; 102:171–181.
Hoyert DL, Freedman MA, Strobino DM, Guyer B. Annual summary of vital statistics: 2000. Pediatrics 2001; 108:1241–1255.
Scheuner MT, McNeel TS, Freedman AN. Population prevalence of familial cancer and common hereditary cancer syndromes. The 2005 California Health Interview Survey. Genet Med 2010; 12:726–735.

References

Domchek SM, Friebel TM, Singer CF, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 2010; 304:967–975.
Hunt SC, Gwinn M, Adams TD. Family history assessment: strategies for prevention of cardiovascular disease. Am J Prev Med 2003; 24:136–142.
Wood ME, Stockdale A, Flynn BS. Interviews with primary care physicians regarding taking and interpreting the cancer family history. Fam Pract 2008; 25:334–340.
Bellcross CA, Kolor K, Goddard KA, Coates RJ, Reyes M, Khoury MJ. Awareness and utilization of BRCA1/2 testing among U.S. primary care physicians. Am J Prev Med 2011; 40:61–66.
Hindorff LA, Burke W, Laberge AM, et al. Motivating factors for physician ordering of factor V Leiden genetic tests. Arch Intern Med 2009; 169:68–74.
National Society of Genetic Counselors. Definition of genetic counseling. www.nsgc.org/About/FAQsDefinitions/tabid/97/Default.aspx. Accessed June 4, 2012.
Bernhardt BA, Biesecker BB, Mastromarino CL. Goals, benefits, and outcomes of genetic counseling: client and genetic counselor assessment. Am J Med Genet 2000; 94:189–197.
Bernhardt BA, Pyeritz RE. The economics of clinical genetics services. III. Cognitive genetics services are not self-supporting. Am J Hum Genet 1989; 44:288–293.
McPherson E, Zaleski C, Benishek K, et al. Clinical genetics provider real-time workflow study. Genet Med 2008; 10:699–706.
Brain K, Gray J, Norman P, et al. Randomized trial of a specialist genetic assessment service for familial breast cancer. J Natl Cancer Inst 2000; 92:1345–1351.
Lerman C, Biesecker B, Benkendorf JL, et al. Controlled trial of pretest education approaches to enhance informed decision-making for BRCA1 gene testing. J Natl Cancer Inst 1997; 89:148–157.
Randall J, Butow P, Kirk J, Tucker K. Psychological impact of genetic counselling and testing in women previously diagnosed with breast cancer. Intern Med J 2001; 31:397–405.
Meiser B, Butow PN, Barratt AL, et al; Psychological Impact Collaborative Group. Long-term outcomes of genetic counseling in women at increased risk of developing hereditary breast cancer. Patient Educ Couns 2001; 44:215–225.
Meiser B, Halliday JL. What is the impact of genetic counselling in women at increased risk of developing hereditary breast cancer? A meta-analytic review. Soc Sci Med 2002; 54:1463–1470.
Kladny B, Williams A, Gupta A, Gettig EA, Krishnamurti L. Genetic counseling following the detection of hemoglobinopathy trait on the newborn screen is well received, improves knowledge, and relieves anxiety. Genet Med 2011; 13:658–661.
Austin JC, Honer WG. Psychiatric genetic counselling for parents of individuals affected with psychotic disorders: a pilot study. Early Interv Psychiatry 2008; 2:80–89.
Forrest LE, Burke J, Bacic S, Amor DJ. Increased genetic counseling support improves communication of genetic information in families. Genet Med 2008; 10:167–172.
Watson M, Kash KM, Homewood J, Ebbs S, Murday V, Eeles R. Does genetic counseling have any impact on management of breast cancer risk? Genet Test 2005; 9:167–174.
National Conference of State Legislatures. Genetic counselor licensing. www.ncsl.org/issues-research/health/genetic-counselor-licensing-laws.aspx. Accessed June 4, 2012.
Roos RA. Huntington’s disease: a clinical review. Orphanet J Rare Dis 2010; 5:40.
Morrison PJ, Harding-Lester S, Bradley A. Uptake of Huntington disease predictive testing in a complete population. Clin Genet 2011; 80:281–286.
Bernhardt C, Schwan AM, Kraus P, Epplen JT, Kunstmann E. Decreasing uptake of predictive testing for Huntington’s disease in a German centre: 12 years’ experience (1993–2004). Eur J Hum Genet 2009; 17:295–300.
Di Maio L, Squitieri F, Napolitano G, Campanella G, Trofatter JA, Conneally PM. Suicide risk in Huntington’s disease. J Med Genet 1993; 30:293–295.
Schoenfeld M, Myers RH, Cupples LA, Berkman B, Sax DS, Clark E. Increased rate of suicide among patients with Huntington’s disease. J Neurol Neurosurg Psychiatry 1984; 47:1283–1287.
International Huntington Association and the World Federation of Neurology Research Group on Huntington’s Chorea. Guidelines for the molecular genetics predictive test in Huntington’s disease. J Med Genet 1994; 31:555–559.
Fiedorowicz JG, Mills JA, Ruggle A, Langbehn D, Paulsen JS; PREDICT-HD Investigators of the Huntington Study Group. Suicidal behavior in prodromal Huntington disease. Neurodegener Dis 2011; 8:483–490.
National Institutes of Health. Definition of genetic discrimination. www.genome.gov/Glossary/index.cfm?id=80. Accessed June 4, 2012.
Powell KP, Cogswell WA, Christianson CA, et al. Primary care physicians’ awareness, experience, and opinions of direct-to-consumer genetic testing. J Genet Couns 2011; (Epub ahead of print.)
Dietz HC. Marfan syndrome. In:Pagon RA, Bird TD, Dolan CR, et aleditors. GeneReviews. Seattle, WA: University of Washington; 1993.
Williams JA, Loeys BL, Nwakanma LU, et al. Early surgical experience with Loeys-Dietz: a new syndrome of aggressive thoracic aortic aneurysm disease. Ann Thorac Surg 2007; 83:S757–5763.
Oderich GS, Panneton JM, Bower TC, et al. The spectrum, management and clinical outcome of Ehlers-Danlos syndrome type IV: a 30-year experience. J Vasc Surg 2005; 42:98–106.
Ford D, Easton DF, Stratton M, et al. Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1998; 62:676–689.
Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE. Risks of cancer in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Lancet 1994; 343:692–695.
Trepanier A, Ahrens M, McKinnon W, et al; National Society of Genetic Counselors. Genetic cancer risk assessment and counseling: recommendations of the National Society of Genetic Counselors. J Genet Couns 2004; 13:83–114.
Johns Hopkins University. OMIM entry statistics. http://omim.org/statistics/entries. Accessed June 4, 2012.
Baird PA, Anderson TW, Newcombe HB, Lowry RB. Genetic disorders in children and young adults: a population study. Am J Hum Genet 1988; 42:677–693.
Berry RJ, Buehler JW, Strauss LT, Hogue CJ, Smith JC. Birth weight-specific infant mortality due to congenital anomalies, 1960 and 1980. Public Health Rep 1987; 102:171–181.
Hoyert DL, Freedman MA, Strobino DM, Guyer B. Annual summary of vital statistics: 2000. Pediatrics 2001; 108:1241–1255.
Scheuner MT, McNeel TS, Freedman AN. Population prevalence of familial cancer and common hereditary cancer syndromes. The 2005 California Health Interview Survey. Genet Med 2010; 12:726–735.

Issue

Cleveland Clinic Journal of Medicine - 79(8)

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Cleveland Clinic Journal of Medicine - 79(8)

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560-568

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560-568

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Genetic counselors: Your partners in clinical practice

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Genetic counselors: Your partners in clinical practice

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KEY POINTS

The sequencing of the human genome has provided valuable information about the genetic causes of many conditions, but it has also uncovered tremendous complexities.
Genetic counselors are master’s-trained allied health care professionals with specific expertise in identifying and educating patients at risk for inherited conditions.
Genetic testing should not be ordered without informed consent and without appropriate counseling before and after the test.
Huntington disease, which is inherited in an autosomal dominant manner, illustrates the need for genetic counseling before predictive testing.
The National Society of Genetic Counselors (www.nsgc.org) and the American Board of Genetic Counseling (www.abgc.net) provide searchable databases of genetic counselors.

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Building an innovative model for personalized healthcare

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Building an innovative model for personalized healthcare

Author(s)

Kathryn Teng, MD, FACP

Charis Eng, MD, PhD

Caryl A. Hess, PhD, MBA

Meredith A. Holt, MBA

Richard R. Sharp, PhD

Elias I. Traboulsi, MD

Personalized healthcare is the tailoring of medical management and patient care to the individual characteristics of each patient. This is achieved by incorporating the genetic and genomic makeup of an individual and his or her family medical history, environment, health-related behaviors, culture, and values into a complete health picture that can be used to customize care. Another level of personalization, often called personalized medicine, involves the selection of drug therapy through the use of tests to determine the genes and gene interactions that can reliably predict an individual’s response to a given therapy. This white paper focuses largely on the use of personalized healthcare as a risk prediction tool.

CURRENT STATUS OF PERSONALIZED HEALTHCARE

Practitioners and consumers in today’s healthcare setting do not yet fully recognize the potential benefits of personalized healthcare (Table 1¹). Further, proposals for reform tend to be reactive rather than proactive. Family history is well validated as a tool to predict risk for disease, but, in some instances, genomic information may enhance risk prediction provided by family history. The trial-and-error approach now used to treat disease is costly, but genomic testing has the potential to save money through more effective use of diagnostic tests, counseling about medical management based on gene test results, and prescribing of medications.

The case for personalized healthcare: Seeking value

To fully appreciate the need to advance the adoption of personalized healthcare into the delivery of medicine, one must consider the operation of our current healthcare system and its inefficiencies in terms of delivery and cost, its imprecision in the selection of therapies, and its inability to optimize outcomes. The framework of the US healthcare system as it is now constructed is expensive, disease-directed (instead of health- and wellness-directed), fragmented, and complex. While gross domestic product (GDP) in the United States has increased by approximately 3% per year,² the compounded growth rate of healthcare expenditures is 6.1% per year. Healthcare in the aggregate now represents 17.6% of GDP and 27% of spending by the federal government and consumes 28% of the average household’s discretionary spending, surpassed only by housing.³

Personalized healthcare can potentially address the need for value consistent with the healthcare system’s prominent share of the US economy. The growth in healthcare spending is certain to be a target of the newly created Joint Select Committee on Deficit Reduction (created by the Budget Control Act of 2011), which is tasked with deficit reduction of at least $1.5 trillion over a 10-year period.

The need to address healthcare costs has been recognized in the Patient Protection and Affordable Care Act, a central feature of which is the creation of integrated health systems that pay for value based on quality, cost containment, and consumer experience. The legislation was enacted to transform healthcare in a variety of ways to make it more sustainable. The Patient Protection and Affordable Care Act seeks to end fragmentation by expanding the use of information technology to reorganize the delivery system and to prevent errors, shifting from volume-based incentives to incentives based on performance and outcomes, and rewarding effective healthcare delivery measures and good patient outcomes.

A shift from reactive to proactive

The premise behind personalized healthcare is the potential for more efficient healthcare, with the assumption that efficiency translates to lower cost and improved patient care.

Although healthcare reform is most often referred to in the context of improving access to care through insurance coverage mandates, true healthcare reform shifts current healthcare models from the practice of reactive medicine to the practice of proactive medicine, in which the tools of personalized healthcare (ie, genetics, genomics, and other molecular diagnostics) enable not only better quality of care but also less expensive care.

Several personalized tools have long been accepted into mainstream medicine. Two examples are the family history, which is the least expensive and most available genetic evaluation tool, and ABO blood typing for safe transfusions (as ABO blood types are alleles of a gene). In fact, much of what is now considered mainstream medical management was at one time considered new. To allow further evolution of medical practice, our challenge is to open our minds to the possibility that personalized proactive medicine can improve healthcare.

The new vision: More precise management

The trial-and-error approach to treating disease is inefficient and costly. Many drugs are effective for only about 50% of patients, often leading to switching or intensification of therapy that requires multiple patient visits.

Personalized medicine considers pharmacokinetic and other characteristics in selection of drug dosages. Genomic testing has the potential to provide clearer insight into the more successful use of currently available medicines. Treatment decisions (ie, drug and drug dosage choice) made on the basis of pharmacogenomic testing should increase adherence through greater effectiveness and fewer adverse drug reactions.

A massive amount of waste is related to pharmaceutical nonadherence and noncompliance. The New England Healthcare Institute has estimated that medication nonadherence costs the healthcare system $290 billion annually.⁴ Methodologies targeted at individual patients to improve adherence to drug regimens could save the healthcare system a tremendous amount of money.

Cancer management as a model for personalized healthcare. Personalization of therapy is especially suited to cancer management, given that the response to nonspecific cancer chemotherapy is suboptimal in most patients yet exposes them to adverse effects.⁵ Large-scale sequencing of human cancer genomes is rapidly changing the understanding of cancer biology and is identifying new targets in difficult-to-treat diseases and causes of drug resistance. Applying this information can achieve cost savings by avoiding the use of treatments that are ineffective in particular patients.

Overexpression of genetic mutations renders some cancers less susceptible to certain treatments, but has opened the door to individualized molecularly guided treatment strategies. For example, among patients with non–small cell lung cancer, mutations in the epidermal growth factor receptor (EGFR) tyrosine kinase domain predict response to EGFR tyrosine kinase inhibitors, and anaplastic lymphoma kinase (ALK) inhibitors induce response in patients harboring a mutation in EML4-ALK genes. The recognition that human epidermal growth factor receptor (HER)-2 overexpression as a result of ERBB2 gene amplification occurs in as many as 20% of human breast cancers paved the way for the development of HER-2–targeted therapies. Patients with advanced colorectal cancer whose tumors express the KRAS gene mutation do not benefit from an EGFR inhibitor, whereas those with wild-type KRAS have improved survival with EGFR inhibitor treatment.⁶

BARRIERS TO THE APPLICATION OF PERSONALIZED HEALTHCARE

The availability and potential of personalized healthcare services and technology is not universally recognized or appreciated by consumers and clinicians. This lack of awareness contributes to a shortage of public support and limited demand for such services. Other barriers include misperceptions regarding the impact of personalized healthcare on disease management, limited incentives to use the available technology, and a knowledge gap among healthcare providers.

Lack of awareness and support

As applications of personalized healthcare advance to the point of clinical relevance, it is important to consider strategies for effective implementation into healthcare practice. Personalized healthcare, when more fully implemented, promises to accelerate the progress that healthcare reform hopes to achieve.

A major challenge to widespread adoption of personalized healthcare is limited recognition by the public and some healthcare providers that personalized healthcare can help to achieve better value. For personalized medicine to be embraced, the concept of “helix to health,” or translation of knowledge to the clinical setting, must resonate with the general public. Despite lack of public and provider awareness, the Personalized Medicine Coalition (PMC) has documented the existence of 56 personalized treatment and diagnostic products. Further, more than 200 product labels now recommend genetic testing prior to use to identify likely responders or inform of the influence of genetic variation on safety and effectiveness.

Consumers’ confidence in the efficacy and safety of medicines they take might contribute to the absence of public support for personalized healthcare. Similarly, despite the availability of genomic tests and tools, many physicians who might be advocates for personalized healthcare do not see the relevance of genomic medicine to their practices in terms of direct benefit to patient care.⁷

Apart from clinicians and consumers, support is also weak among health insurers and employers, even though the return on investment for personalized healthcare may be profound. Payers await the economic outcomes data that are crucial for their commitment to personalized healthcare. In addition, some have concerns about the ethical implications of personalized healthcare (see “Managing Genomic Information Responsibly”).

Perception of impact on treatment and prevention

A frequent criticism of genomics in medicine is that a genetic diagnosis does not help with patient management. In fact, surveillance and management of patients and family members often changes in response to a genetic diagnosis; knowing which gene is involved personalizes medical management. An example is the management of hereditary nonpolyposis colorectal cancer (HNPCC), or Lynch syndrome, which is the most common form of hereditary colon cancer. For a person with HNPCC, the lifetime risk of developing colorectal cancer is approximately 80%. Lynch syndrome is caused by germline mutations in one of three major mismatch repair (MMR) genes (MLH1, MSH2, and MSH6), and it predisposes to other cancers—uterine, stomach, and ovarian—as well. In women with Lynch syndrome, the lifetime risk for uterine cancer is 40%, compared with 4% in the general population.

At least 90% of patients with Lynch syndrome can be detected through MMR testing via microsatellite instability (MSI) or immunohistochemistry (IHC).⁸ MSI is a cellular phenotype that indicates a deficiency in at least one DNA MMR protein.

Although 5-fluorouracil–based chemo therapy is the standard of care for treatment of colorectal cancer, it confers no survival advantage in patients with MMR-IHC null (lack of expression of the gene) or MSI-high sporadic colorectal cancer.^9,10 Knowing the status of MMR proteins, therefore, would alter the decision regarding neoadjuvant and adjuvant chemotherapy.

Perception of value

Implementation of pharmacogenomics into clinical practice has lagged. One major reason is the lack of an obvious business model for a product that may only be required once in an individual patient’s lifetime.¹¹

A second barrier to integration lies in the limited demand for pharmacogenomics from physicians. This may be related partly to limited expertise in genetics among many physicians and to significant pushback from payers against today’s costs. Without reimbursement, little incentive exists for pharmacogenomics diagnostics. The incentive for physicians is further depressed, perhaps appropriately, when randomized controlled studies fail to demonstrate improved clinical outcomes with the use of pharmacogenomicbased treatment strategies. Two such examples are genotype-guided warfarin dosing, which failed in a randomized controlled trial to improve the proportion of international normalized ratios in the therapeutic range,¹² and dosing of clopidogrel based on platelet reactivity, which did not improve outcomes after percutaneous coronary intervention compared with standard dosing in a randomized double-blind clinical trial.¹³

A significant delay in obtaining the results of pharmacogenomics testing, which also postpones the prescribing encounter, is another major drawback.

A knowledge gap persists

At present, delivery of personalized healthcare is not part of the usual training of physicians and other healthcare providers who are the gatekeepers of medicine. Few medical schools incorporate human and medical genetics, genomics, and pharmacogenomics into their curricula. Genetics is inadequately emphasized in residency curricula outside of pediatrics, family medicine, and obstetrics/gynecology.

The resulting knowledge gap is a fundamental factor in the lack of interest in using genomics in clinical medicine. Educating consumers and physicians at all levels, including specialty societies as well as insurers, will be key to expanding utilization of personalized healthcare. Educating payers and providing them with more data on economic outcomes associated with personalized healthcare will be necessary for adoption into clinical practice; implementation will lag as long as reimbursement decisions do not support personalized approaches to medicine.

As DNA sequencing technology has become less expensive and more powerful, companies have begun to market personal genomic testing. As a result, patients who use these services will increasingly want to discuss the results with their physicians. A significant number of clinicians are unfamiliar with personal genomic testing and emerging genetic testing options. In one survey of physicians who attended educational sessions that discussed recent developments in clinical genetics, only 37% indicated that they were familiar with recent genetic research that affected their patients.¹⁴

Targeted education will enhance physicians’ understanding of probabilities and risk estimates from the use of genomic testing; it will also improve recognition of potential causes of patient anxiety, gene variants of unknown significance, and follow-up tests and procedures that can add to expense. Nonphysician healthcare providers (ie, nurses and physician assistants) of direct care also will benefit from education.

INTEGRATING PERSONALIZED HEALTHCARE INTO CLINICAL PRACTICE

Practice standardization and an overhaul of the health information technology (HIT) infrastructure are needed if we are to reap the potential benefits of personalized healthcare. Creative approaches to practitioner education, which are being used in some institutions, must become more widespread. Similarly, the models for successful integration of personalized healthcare that have been achieved in some settings also can be implemented in other institutions.

Data collection and integration must be prioritized

Personalized healthcare can be both predictive and preventive, but moving past the disruptive phase of personalized healthcare will require a radical transformation of the healthcare “ecosystem” and HIT infrastructure.

Although data collection in the current system is extensive, data sharing and data management are inadequate. The pace at which HIT links clinical and genetic information must be accelerated. HIT will expedite innovation and implementation of personalized healthcare, allowing greater integration of data to permit improved data analysis capability. The ultimate goal is to create an interoperable system that connects these data across hospitals and clinicians to help clinicians interpret genomic and other risk information to better inform patient care.

Fully integrated health systems support better coordination of care and optimize the treatment of individual patients: linking research findings, treatment guidelines, treatment outcomes based on genetic profiles, and the individual patient’s own genetic profile will help to personalize treatments. Genomic information added to an individual’s electronic medical record along with improved data-sharing will facilitate clinicians’ ability to retrieve outcomes data based on patient characteristics.

Care models must be standardized, evidence-based practices must be executed, and care must be coordinated yet decentralized. In this way, clinicians can use the electronic medical record as an interoperable patient record to determine a personalized pathway to patient management. Standardization reduces variability in practice and permits seamless execution of care. Automation is imperative to achieving standardization, irrespective of the care supervisor. Investments must therefore be made to stimulate electronic medical record decision support.

In addition, larger data sets will be needed to identify the types of patients likely to respond to a treatment. Ideal data sets would be large enough to have adequate statistical power, be publicly available, standardize the collection of data with respect to response to therapy and toxicity, and contain data on concomitant collections of biologic samples.

Reimbursement must keep pace with medical advances

Payer willingness to reimburse for genomic tests and treatments will determine the pace of integration of personalized healthcare into clinical practice. Evidence that enhanced value can be derived from personalized approaches to medicine must be generated before personalized healthcare gains widespread acceptance by payers.

In addition, care-coordinated models must be developed to promote a value-based agenda that facilitates physician accountability and encourages clinical integration.

Innovative approaches are needed to educate providers

Development of point-of-care tools. Because information overload and lack of time are obstacles to clinicians’ efforts to incorporate genomic information into clinical practice, emphasis must be placed on genomic applications that have demonstrated utility. Engaging busy clinicians with point-of-care tools will maximize the relevance of the genomic information they receive and encourage effective use of their time. Decision-making should be supported through automatic risk assessment and management recommendations.

Educational tools. The National Coalition for Health Professional Education in Genetics (NCHPEG) was borne out of the recognition that the pace of genomic discovery far exceeds the pace at which healthcare providers can be educated. Its vision is to improve healthcare through informed use of genomic resources. NCHPEG is a member-based organization whose stakeholders include professional societies, hospitals, advocacy groups, and industry; it attempts to identify the specific educational needs for particular target audiences and then address these needs. It achieves its goals through the use of point-of-care tools and educational programs for continuing medical education credit.

One NCHPEG tool is the Pregnancy and Health Profile, which is a risk assessment and screening tool that attempts to improve the identification of women and babies at risk of developing genetic disease. It collects personal and family history information, performs a risk assessment for the clinician, and provides clinical decision support and education.

Another example of an educational tool is the “Genes to Society” curriculum initiated by The Johns Hopkins University School of Medicine in August 2009. The curriculum is being used as “the foundation for the scientific and clinical career development of future physicians.”¹⁵

Using personal genomic testing for education. The number of direct-to-consumer genomic tests is growing, and their market penetration will only increase as the cost of supplying a personal genome continues to decline. Whole genome scanning is being offered with the promise of identifying genetic predisposition to multiple diseases.

Participation in personal genomic testing may be a useful educational tool. Medical students, residents, and practicing physicians who participate in testing may be better equipped to advise patients about the processes involved and the potential utility and limitations of direct-to-consumer genotyping.¹⁴

Some companies that offer direct-to-consumer genomic testing provide telephone support from genetic counselors to help clients and their healthcare providers manage genetic information. Counselor services include identifying hereditary risks and reviewing diagnostic, preventive, and early-detection options.

Implementing pharmacogenomics into practice: Decision support systems are needed

A genomic decision support system that guides medication prescribing is needed to implement pharmacogenomic diagnostics. For such a system to achieve the goal of selecting the best medication for each individual, it must do the following:

Test all polymorphisms relevant to the prescribing of any medication
Be completed with no out-of-pocket cost to the patient
Be performed before the patient requires the medication
Provide results that will be interpreted as part of an individualized pharmacogenomics consult.¹¹

Many useful pharmacogenomic tests are based on cytochrome P450 metabolism phenotypes that are responsible for variance in response to drugs metabolized by this pathway. Others use human leukocyte antigen screening for hypersensitivity reactions to abacavir, carbamazepine, and allopurinol. Examples of pharmacogenomics tests appear in Table 2.

The 1200 Patients Project, a pilot research study under way at the Center for Personalized Therapeutics at the University of Chicago, is attempting to demonstrate the feasibility of incorporating pharmacogenomic testing into routine clinical practice for medication treatment decisions. DNA samples from patients who are taking at least one prescription medication are being tested for differences in genes that may suggest greater effectiveness or an increased risk of side effects from certain medications.

Solutions in practice

Cleveland Clinic’s genetics-based management of Lynch syndrome, the integration of genetics services during patient appointments at Cleveland Clinic, and a coordinated approach at The Ohio State University Medical Center are examples of practical applications of personalized healthcare.

Colorectal cancer management. One example of a personalized approach to medicine that improves health outcome while achieving cost savings is the genetics-based approach to HNPCC (Lynch syndrome) at Cleveland Clinic.

Early identification of Lynch syndrome by screening all colorectal cancer patients has been shown to save $250,000 per life-year gained in the United States.¹⁶ All colorectal cancers resected at the Cleveland Clinic main campus are routinely screened for MSI and IHC, and the process is embedded into the routine pathology workflow. With the patients’ foreknowledge, a gastrointestinal cancer genetics counselor scans the list of MSI and IHC results each week. Patients who are MSI-high or IHC-null are invited to receive genetic counseling and consider germline single-gene testing guided by the IHC results. With this active approach, patient uptake is 80%; in comparison, with a passive approach (MSI/IHC results are placed in the pathology report), the uptake is 14%¹⁷ (B. Leach and C. Eng, unpublished data, 2011).The successful application of the active approach requires the close cooperation of multiple disciplines, including members of the Cleveland Clinic Genomic Medicine, Pathology & Laboratory Medicine, and Digestive Disease Institutes.¹⁸

Integrating genetics-based care at Cleveland Clinic. Time delays for genetics services and limited collaboration with managing physicians who are not genetics specialists reduces genetics-based access and availability. Broad access to genetics clinical services is a means of clinical integration of genetics-enabled care. Providing patients and healthcare providers with easy access and short wait times is vital for clinical integration of genetics-enabled personalized healthcare.

As part of a patient-centered focus on medicine, clinical genetics services have been integrated throughout Cleveland Clinic. The system has two genetics clinics at its main campus and has embedded multiple genetics satellites within its nongenetics clinics, easing access. Genetics counselors are stationed in the same areas of practice as referring providers. Although patient encounters have increased at the medical genetics clinic in the Genomic Medicine Institute, genetics consultations no longer require an extra trip to the clinic since they are integrated into existing appointments. With this approach, large numbers of patients can be seen with no wait times.

Coordinated care at The Ohio State University Medical Center. The Center for Personalized Health Care at The Ohio State University Medical Center (OSUMC) embraces a systems-based care-coordinated model that improves care by executing standardized processes and automating routine tasks. The Institute for Systems Biology, which was established to develop genomics, wellness, and chronic disease biomarkers, collaborates with OSUMC on pilot projects in chronic disease, including cancer.

The OSUMC has a closed system in which it is the payer, employer, and provider of healthcare. This closed system serves as an ideal testing ground for reform. Goals include intervention in disease before symptoms appear and maintenance of wellness. The data from these demonstration projects should facilitate adoption of personalized healthcare by improving physician acceptance of personalized approaches and satisfying payers that personalized healthcare is cost-effective.

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Author and Disclosure Information

Kathryn Teng, MD, FACP
Director, Center for Personalized Healthcare, Cleveland Clinic, Cleveland, OH

Charis Eng, MD, PhD
Hardis/ACS Professor and Chair, Genomic Medicine Institute, Cleveland Clinic, Cleveland, OH

Caryl A. Hess, PhD, MBA
Director, Cleveland Clinic Academy, Cleveland Clinic, Cleveland, OH

Meredith A. Holt, MBA
Program Director, Center for Personalized Healthcare, Cleveland Clinic, Cleveland, OH

Rocio T. Moran, MD
Medical Director, General Genetics Clinical Service, Cleveland Clinic, Cleveland, OH

Richard R. Sharp, PhD
Director, Bioethics Research, Cleveland Clinic, Cleveland, OH

Elias I. Traboulsi, MD
Director, Graduate Medical Education, Cleveland Clinic, Cleveland, OH

Correspondence: Kathryn Teng, MD, FACP, Director, Center for Personalized Healthcare, Cleveland Clinic, 9500 Euclid Avenue, NE50, Cleveland, OH 44195; tengk@ccf.org

All authors have indicated that they have no relationships that, in the context of their contributions to this supplement, could be perceived as a potential conflict of interest.

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