Predicting the Future of Genetics

Thirteen years ago, scientists cracked the human genetic code, opening a world of new possibilities in medical care. At the time, it was (rightfully) trumpeted as a remarkable achievement, a sort of final frontier conquered. Soon, everyone would be able to have their own DNA sequenced, diseases would be identified early enough to prevent them, and medications could be tailored to the needs of the patient and his/her particular manifestation of a condition.

Flash-forward to the present day, and the clinical landscape doesn’t look quite as different as expected. Yes, there have been strides in the identification of genetic components to illnesses. Yes, in many cases, the results of genetic testing may lead patients to make choices that alter their outcomes. But there are still a lot of unknowns, as well as gray areas, when it comes to genetics.

For human beings in general—and Americans in particular—“soon” is never really soon enough. But it might actually be a good thing that genetics is still in the process of revolutionizing the way medicine is practiced. Because the truth is, we may not be fully equipped to handle the reality.

According to GeneTests.org, the National Center for Biotechnology Information's online database, genetic testing is available for 2,978 diseases (the majority are clinical tests, while 233 are for research purposes only). Figure 1 maps the exponential growth in available genetic tests since 1993 (seven years before the Human Genome Project was completed).

Continually, new information becomes available about genes associated with particular illnesses. The difficulty lies in putting it into an appropriate context.

"Many NPs and PAs—and probably primary care docs—don't really have a good understanding of genetics," says Ruth McCaffrey, ND, DNP, ARNP,BC, FNP, GNP, Professor, College of Nursing, Florida Atlantic University. "And therefore, they don't want to bring it up with patients, because they don't know how to help people."

A key aspect—before even delving into the specifics of what genetic testing can offer a particular patient—is managing expectations, both patients' and providers'. Genetics holds a wealth of promise for the future, but that future is not necessarily now. Pharmacogenetics, for example, has not advanced as researchers had hoped; while there are instances in which a medication may be selected based on the patient's genetic make-up (think of Alzheimer's disease), the field has not come to fruition yet.

So having genetic knowledge may not translate to useful action. And that leaves a lot of room for frustration and anxiety.

While genetic tests can be used for diagnosis—someone demonstrating features of Down syndrome, for example, might be tested to confirm the presence of an extra copy of chromosome 21—most are performed for predictive purposes. And that has opened up a realm of uncertainty, because many patients—and even some clinicians—do not understand the concept of absolute risk.

The problem has been compounded by the influx of direct-to-consumer (DTC) genetic testing kits. Visit certain Web sites—even the ubiquitous Amazon.com—and you can purchase a kit that provides everything you need to swab the inside of your cheek and send the sample away to a laboratory for analysis. The resultant report will indicate your likelihood of developing certain diseases. (Note: The FDA, among other federal agencies, has questioned the accuracy of some of these kits and whether their marketing claims promise more than they can deliver.) But patients often can't put that information into a proper perspective.

"When I had my DTC genetic testing," Rackover says (he decided he couldn't teach students about it if he didn't experience it for himself), "I received 42 pages of information. And I had to learn to deal with absolute risk. It's basically a communications game of helping people deal with information they don't want to know."

Genetic testing that is ordered, or recommended, by a clinician will have a context to it. The patient will presumably have undergone counseling with a genetics specialist, and/or the primary care provider may have explained to the patient why the testing is beneficial and what information can be gleaned. But when people submit their own samples, they often aren't prepared for the answers they receive.

Even when patients bring their results to a primary care provider, that clinician might not be able to offer much enlightenment if he or she is not comfortable with and knowledgeable about genetics. Even to someone with medical or nursing training, the information can be dense and confusing. In fact, today's situation reminds Rackover of the 1970s, when CT scans and MRIs were making their debut.

"I remember this famous neurosurgeon in Philadelphia telling me, 'This machine is coming from England that is going to revolutionize medicine,'" he recalls. "That was the CT scan. Then when that and the MRI first came out, radiologists didn't know what they were looking at. There was too much information. And what we're getting from all the genetic testing is: The high-level stuff is very good information, but we don't know what it relates to yet."

The usefulness of genetic testing varies by specialty and circumstance. It has perhaps gained the most traction (though not without sociopolitical controversy) in the field of obstetrics. Knowing what genes might be passed to a fetus or what conditions the child is likely to have provides prospective parents with options—whether that means terminating the pregnancy or preparing to raise a child with special needs.

"Certainly if a couple is thinking about becoming pregnant, genetic testing is warranted," McCaffrey says. Screening for Down syndrome is routine in the United States, but she notes, "[The test] is very inaccurate. So we get them all worried and then do amniocentesis. It would be better to do a pre-pregnancy genetic screen than to wait until their fourth month of pregnancy and do the alpha-fetoprotein test."

Another area in which genetic screening is prominent, though plagued by controversy, is breast cancer. Preventive measures are available, but some question whether the current options are too extreme or whether women might regret, say, undergoing prophylactic mastectomy if new treatments become available before their risk would ever reach the highest category.

"That's one end of the spectrum," McCaffrey says. "But if you know you have BRCA2, you might be more vigilant in testing for ovarian cancer. That's the biggest thing we can do, overall—if you have a patient who has the gene for a certain disease, you're going to be much more vigilant at monitoring them."

Again, genetic information has to be put in context. Having a particular gene does occasionally guarantee you will develop a disease (eg, Huntington's disease). But in most cases, it's more of a tip-off that something might happen sometime in the future. Rackover, for example, was told he had an increased risk for Crohn's disease, but since he was already 61 at the time of testing and has never had any symptoms, it wasn't something that especially concerned him. Someone less informed about the concept of risk, however, might have panicked and started demanding treatment for a condition he doesn't have and may never develop.

And then there are cases such as Huntington's disease, for which nothing can be done. A patient who discovers he or she has one of the associated genes might make different life decisions, but there is no prevention plan that can be put into action. This also raises the conundrum of sharing the news with relatives—who may or may not want to know, who may or may not want to consider their own risk. We tend to think of genes as a personal matter, but they're not. We share them with others.

That, according to Rackover, is the heart of the matter—the essential piece that many clinicians overlook. Genetic tests are tools that can assist patients and providers in formulating health care plans. But amidst the buzz that surrounds any advancement in clinical practice, clinicians are losing sight of the fundamentals. The first step doesn't have to be ordering a genetic test. The first step is asking the right questions and listening to the answers.

Family history provides the first clues to a genetic puzzle; it is what can help a provider determine whether genetic testing is warranted. There are instances in which you don't need a genetic test to decide the appropriate course of action; you just need common sense.

Don't believe it? Here's food for thought: Rackover conducts physical exams for the military. One day, he saw a young Korean woman. On her preliminary screening survey, she mentioned having seen a health care provider in the previous year and receiving a prescription for oral contraceptives. There is nothing unusual about that. Except ...

"When I looked at the family history, I saw her mother had a stroke. So I asked, 'How old was your mother?' figuring she was, well, old," Rackover says. "Well, she was 38! And then she told me that both her aunts had a pulmonary embolism."

Thirteen years ago, scientists cracked the human genetic code, opening a world of new possibilities in medical care. At the time, it was (rightfully) trumpeted as a remarkable achievement, a sort of final frontier conquered. Soon, everyone would be able to have their own DNA sequenced, diseases would be identified early enough to prevent them, and medications could be tailored to the needs of the patient and his/her particular manifestation of a condition.

Flash-forward to the present day, and the clinical landscape doesn’t look quite as different as expected. Yes, there have been strides in the identification of genetic components to illnesses. Yes, in many cases, the results of genetic testing may lead patients to make choices that alter their outcomes. But there are still a lot of unknowns, as well as gray areas, when it comes to genetics.

For human beings in general—and Americans in particular—“soon” is never really soon enough. But it might actually be a good thing that genetics is still in the process of revolutionizing the way medicine is practiced. Because the truth is, we may not be fully equipped to handle the reality.

According to GeneTests.org, the National Center for Biotechnology Information's online database, genetic testing is available for 2,978 diseases (the majority are clinical tests, while 233 are for research purposes only). Figure 1 maps the exponential growth in available genetic tests since 1993 (seven years before the Human Genome Project was completed).

Continually, new information becomes available about genes associated with particular illnesses. The difficulty lies in putting it into an appropriate context.

"Many NPs and PAs—and probably primary care docs—don't really have a good understanding of genetics," says Ruth McCaffrey, ND, DNP, ARNP,BC, FNP, GNP, Professor, College of Nursing, Florida Atlantic University. "And therefore, they don't want to bring it up with patients, because they don't know how to help people."

A key aspect—before even delving into the specifics of what genetic testing can offer a particular patient—is managing expectations, both patients' and providers'. Genetics holds a wealth of promise for the future, but that future is not necessarily now. Pharmacogenetics, for example, has not advanced as researchers had hoped; while there are instances in which a medication may be selected based on the patient's genetic make-up (think of Alzheimer's disease), the field has not come to fruition yet.

So having genetic knowledge may not translate to useful action. And that leaves a lot of room for frustration and anxiety.

While genetic tests can be used for diagnosis—someone demonstrating features of Down syndrome, for example, might be tested to confirm the presence of an extra copy of chromosome 21—most are performed for predictive purposes. And that has opened up a realm of uncertainty, because many patients—and even some clinicians—do not understand the concept of absolute risk.

The problem has been compounded by the influx of direct-to-consumer (DTC) genetic testing kits. Visit certain Web sites—even the ubiquitous Amazon.com—and you can purchase a kit that provides everything you need to swab the inside of your cheek and send the sample away to a laboratory for analysis. The resultant report will indicate your likelihood of developing certain diseases. (Note: The FDA, among other federal agencies, has questioned the accuracy of some of these kits and whether their marketing claims promise more than they can deliver.) But patients often can't put that information into a proper perspective.

"When I had my DTC genetic testing," Rackover says (he decided he couldn't teach students about it if he didn't experience it for himself), "I received 42 pages of information. And I had to learn to deal with absolute risk. It's basically a communications game of helping people deal with information they don't want to know."

Genetic testing that is ordered, or recommended, by a clinician will have a context to it. The patient will presumably have undergone counseling with a genetics specialist, and/or the primary care provider may have explained to the patient why the testing is beneficial and what information can be gleaned. But when people submit their own samples, they often aren't prepared for the answers they receive.

Even when patients bring their results to a primary care provider, that clinician might not be able to offer much enlightenment if he or she is not comfortable with and knowledgeable about genetics. Even to someone with medical or nursing training, the information can be dense and confusing. In fact, today's situation reminds Rackover of the 1970s, when CT scans and MRIs were making their debut.

"I remember this famous neurosurgeon in Philadelphia telling me, 'This machine is coming from England that is going to revolutionize medicine,'" he recalls. "That was the CT scan. Then when that and the MRI first came out, radiologists didn't know what they were looking at. There was too much information. And what we're getting from all the genetic testing is: The high-level stuff is very good information, but we don't know what it relates to yet."

The usefulness of genetic testing varies by specialty and circumstance. It has perhaps gained the most traction (though not without sociopolitical controversy) in the field of obstetrics. Knowing what genes might be passed to a fetus or what conditions the child is likely to have provides prospective parents with options—whether that means terminating the pregnancy or preparing to raise a child with special needs.

"Certainly if a couple is thinking about becoming pregnant, genetic testing is warranted," McCaffrey says. Screening for Down syndrome is routine in the United States, but she notes, "[The test] is very inaccurate. So we get them all worried and then do amniocentesis. It would be better to do a pre-pregnancy genetic screen than to wait until their fourth month of pregnancy and do the alpha-fetoprotein test."

Another area in which genetic screening is prominent, though plagued by controversy, is breast cancer. Preventive measures are available, but some question whether the current options are too extreme or whether women might regret, say, undergoing prophylactic mastectomy if new treatments become available before their risk would ever reach the highest category.

"That's one end of the spectrum," McCaffrey says. "But if you know you have BRCA2, you might be more vigilant in testing for ovarian cancer. That's the biggest thing we can do, overall—if you have a patient who has the gene for a certain disease, you're going to be much more vigilant at monitoring them."

Again, genetic information has to be put in context. Having a particular gene does occasionally guarantee you will develop a disease (eg, Huntington's disease). But in most cases, it's more of a tip-off that something might happen sometime in the future. Rackover, for example, was told he had an increased risk for Crohn's disease, but since he was already 61 at the time of testing and has never had any symptoms, it wasn't something that especially concerned him. Someone less informed about the concept of risk, however, might have panicked and started demanding treatment for a condition he doesn't have and may never develop.

And then there are cases such as Huntington's disease, for which nothing can be done. A patient who discovers he or she has one of the associated genes might make different life decisions, but there is no prevention plan that can be put into action. This also raises the conundrum of sharing the news with relatives—who may or may not want to know, who may or may not want to consider their own risk. We tend to think of genes as a personal matter, but they're not. We share them with others.

That, according to Rackover, is the heart of the matter—the essential piece that many clinicians overlook. Genetic tests are tools that can assist patients and providers in formulating health care plans. But amidst the buzz that surrounds any advancement in clinical practice, clinicians are losing sight of the fundamentals. The first step doesn't have to be ordering a genetic test. The first step is asking the right questions and listening to the answers.

Family history provides the first clues to a genetic puzzle; it is what can help a provider determine whether genetic testing is warranted. There are instances in which you don't need a genetic test to decide the appropriate course of action; you just need common sense.

Don't believe it? Here's food for thought: Rackover conducts physical exams for the military. One day, he saw a young Korean woman. On her preliminary screening survey, she mentioned having seen a health care provider in the previous year and receiving a prescription for oral contraceptives. There is nothing unusual about that. Except ...

"When I looked at the family history, I saw her mother had a stroke. So I asked, 'How old was your mother?' figuring she was, well, old," Rackover says. "Well, she was 38! And then she told me that both her aunts had a pulmonary embolism."

Thirteen years ago, scientists cracked the human genetic code, opening a world of new possibilities in medical care. At the time, it was (rightfully) trumpeted as a remarkable achievement, a sort of final frontier conquered. Soon, everyone would be able to have their own DNA sequenced, diseases would be identified early enough to prevent them, and medications could be tailored to the needs of the patient and his/her particular manifestation of a condition.

Flash-forward to the present day, and the clinical landscape doesn’t look quite as different as expected. Yes, there have been strides in the identification of genetic components to illnesses. Yes, in many cases, the results of genetic testing may lead patients to make choices that alter their outcomes. But there are still a lot of unknowns, as well as gray areas, when it comes to genetics.

For human beings in general—and Americans in particular—“soon” is never really soon enough. But it might actually be a good thing that genetics is still in the process of revolutionizing the way medicine is practiced. Because the truth is, we may not be fully equipped to handle the reality.

According to GeneTests.org, the National Center for Biotechnology Information's online database, genetic testing is available for 2,978 diseases (the majority are clinical tests, while 233 are for research purposes only). Figure 1 maps the exponential growth in available genetic tests since 1993 (seven years before the Human Genome Project was completed).

Continually, new information becomes available about genes associated with particular illnesses. The difficulty lies in putting it into an appropriate context.

"Many NPs and PAs—and probably primary care docs—don't really have a good understanding of genetics," says Ruth McCaffrey, ND, DNP, ARNP,BC, FNP, GNP, Professor, College of Nursing, Florida Atlantic University. "And therefore, they don't want to bring it up with patients, because they don't know how to help people."

A key aspect—before even delving into the specifics of what genetic testing can offer a particular patient—is managing expectations, both patients' and providers'. Genetics holds a wealth of promise for the future, but that future is not necessarily now. Pharmacogenetics, for example, has not advanced as researchers had hoped; while there are instances in which a medication may be selected based on the patient's genetic make-up (think of Alzheimer's disease), the field has not come to fruition yet.

So having genetic knowledge may not translate to useful action. And that leaves a lot of room for frustration and anxiety.

While genetic tests can be used for diagnosis—someone demonstrating features of Down syndrome, for example, might be tested to confirm the presence of an extra copy of chromosome 21—most are performed for predictive purposes. And that has opened up a realm of uncertainty, because many patients—and even some clinicians—do not understand the concept of absolute risk.

The problem has been compounded by the influx of direct-to-consumer (DTC) genetic testing kits. Visit certain Web sites—even the ubiquitous Amazon.com—and you can purchase a kit that provides everything you need to swab the inside of your cheek and send the sample away to a laboratory for analysis. The resultant report will indicate your likelihood of developing certain diseases. (Note: The FDA, among other federal agencies, has questioned the accuracy of some of these kits and whether their marketing claims promise more than they can deliver.) But patients often can't put that information into a proper perspective.

"When I had my DTC genetic testing," Rackover says (he decided he couldn't teach students about it if he didn't experience it for himself), "I received 42 pages of information. And I had to learn to deal with absolute risk. It's basically a communications game of helping people deal with information they don't want to know."

Genetic testing that is ordered, or recommended, by a clinician will have a context to it. The patient will presumably have undergone counseling with a genetics specialist, and/or the primary care provider may have explained to the patient why the testing is beneficial and what information can be gleaned. But when people submit their own samples, they often aren't prepared for the answers they receive.

Even when patients bring their results to a primary care provider, that clinician might not be able to offer much enlightenment if he or she is not comfortable with and knowledgeable about genetics. Even to someone with medical or nursing training, the information can be dense and confusing. In fact, today's situation reminds Rackover of the 1970s, when CT scans and MRIs were making their debut.

"I remember this famous neurosurgeon in Philadelphia telling me, 'This machine is coming from England that is going to revolutionize medicine,'" he recalls. "That was the CT scan. Then when that and the MRI first came out, radiologists didn't know what they were looking at. There was too much information. And what we're getting from all the genetic testing is: The high-level stuff is very good information, but we don't know what it relates to yet."

The usefulness of genetic testing varies by specialty and circumstance. It has perhaps gained the most traction (though not without sociopolitical controversy) in the field of obstetrics. Knowing what genes might be passed to a fetus or what conditions the child is likely to have provides prospective parents with options—whether that means terminating the pregnancy or preparing to raise a child with special needs.

"Certainly if a couple is thinking about becoming pregnant, genetic testing is warranted," McCaffrey says. Screening for Down syndrome is routine in the United States, but she notes, "[The test] is very inaccurate. So we get them all worried and then do amniocentesis. It would be better to do a pre-pregnancy genetic screen than to wait until their fourth month of pregnancy and do the alpha-fetoprotein test."

Another area in which genetic screening is prominent, though plagued by controversy, is breast cancer. Preventive measures are available, but some question whether the current options are too extreme or whether women might regret, say, undergoing prophylactic mastectomy if new treatments become available before their risk would ever reach the highest category.

"That's one end of the spectrum," McCaffrey says. "But if you know you have BRCA2, you might be more vigilant in testing for ovarian cancer. That's the biggest thing we can do, overall—if you have a patient who has the gene for a certain disease, you're going to be much more vigilant at monitoring them."

Again, genetic information has to be put in context. Having a particular gene does occasionally guarantee you will develop a disease (eg, Huntington's disease). But in most cases, it's more of a tip-off that something might happen sometime in the future. Rackover, for example, was told he had an increased risk for Crohn's disease, but since he was already 61 at the time of testing and has never had any symptoms, it wasn't something that especially concerned him. Someone less informed about the concept of risk, however, might have panicked and started demanding treatment for a condition he doesn't have and may never develop.

And then there are cases such as Huntington's disease, for which nothing can be done. A patient who discovers he or she has one of the associated genes might make different life decisions, but there is no prevention plan that can be put into action. This also raises the conundrum of sharing the news with relatives—who may or may not want to know, who may or may not want to consider their own risk. We tend to think of genes as a personal matter, but they're not. We share them with others.

That, according to Rackover, is the heart of the matter—the essential piece that many clinicians overlook. Genetic tests are tools that can assist patients and providers in formulating health care plans. But amidst the buzz that surrounds any advancement in clinical practice, clinicians are losing sight of the fundamentals. The first step doesn't have to be ordering a genetic test. The first step is asking the right questions and listening to the answers.

Family history provides the first clues to a genetic puzzle; it is what can help a provider determine whether genetic testing is warranted. There are instances in which you don't need a genetic test to decide the appropriate course of action; you just need common sense.

Don't believe it? Here's food for thought: Rackover conducts physical exams for the military. One day, he saw a young Korean woman. On her preliminary screening survey, she mentioned having seen a health care provider in the previous year and receiving a prescription for oral contraceptives. There is nothing unusual about that. Except ...

"When I looked at the family history, I saw her mother had a stroke. So I asked, 'How old was your mother?' figuring she was, well, old," Rackover says. "Well, she was 38! And then she told me that both her aunts had a pulmonary embolism."