GENETICS

It’s All In the Genes (Or Is It?)

An Interview With Genetic Counselor Barbara Bernhardt

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This week, the Senate will likely consider the Genetic Information Nondiscrimination Act. According to a new report from the Center for American Progress, “Genetic Non-Discrimination: Policy Considerations for the Age of Genetic Medicine,” the legislation has overwhelming support in both houses of Congress. Public concern over the threat of discrimination from insurance companies or employers is real—and a series of stories on the social and ethical impact of the “DNA Age” recently won New York Times reporter Amy Harmon a Pulitzer Prize for Explanatory Reporting.

It is an apt moment to consider these issues: this Friday, April 25 is National DNA Day. But genetic medicine is ultimately about helping real people live healthier lives, and discussions about genetics and public policy must not lose sight of the men, women, children, and parents who seek professional help in unraveling their own genetic code.

To help patients understand the complexity of information about their own DNA, or the DNA of their family members, genetic counselors fill a pivotal role in the healthcare system. To learn more about how medicine can guide individuals to an understanding of their own genomes, Science Progress spoke with Barbara Bernhardt, a genetic counselor, clinical associate professor of medicine at the University of Pennsylvania Medical School, and Co-Director of the Penn Center for the Integration of Genetic Healthcare Technologies. This interview has been edited.

Andrew Plemmons Pratt, Science Progress: For those of us who might not be familiar with the field in general, can you tell us what genetic counseling is and what its goals are?

Barbara Bernhardt: Genetic counseling involves providing individuals with information about genetics that might pertain to their health. We have two goals: educating people about the role of genes and disease and also helping them use that information to make decisions that relate to their own health or reproduction.

SP: Based on the current genetic testing technologies that we have, what are the usual situations in which patients might seek genetic counseling in order to use their personal information to make healthcare decisions?

Bernhardt: At this point in time, the usual reasons for having genetic counseling or testing are different depending on whether we’re talking about reproductive issues, pediatric issues, or adult issues. In reproduction, people use genetic testing, first to see if they are at an increased risk of having a child with a particular kind of genetic disorder. Couples get screened to find out, for example, if they are carriers for cystic fibrosis. There is also genetic testing that can be done on the developing fetus to find out if the fetus has a genetic disorder.

In pediatrics we use genetic testing when we suspect that there might be a problem in a child, either a newborn or a younger child. Often we consider testing for children born with birth defects, who may have developmental delays or may have certain specific conditions that we believe are genetic, and a diagnostic genetic test can determine if that is in fact what they have.

In the adult settings where I work now, we see people who may have a genetic disorder, and again we may use a genetic test to diagnose a genetic condition. Or we may be doing genetic testing to find out if somebody is susceptible to developing a genetic disease. These susceptibility tests are the kind of tests that are just taking off now and their use will continue to grow in the future.

SP: What sort of susceptibilities might people be tested for?

Bernhardt: At this point in time, most genetic testing for susceptibility is taking place in cancer, particularly with regard to susceptibility to breast and ovarian cancer, and also to colon cancer and related cancers. There is going to be an increasing amount of testing to find out about susceptibility to other common disorders of adulthood—things like cardiovascular disease, or neurological disorders like Alzheimer’s, and Parkinson’s disease. There is going to be a growing list.

SP: Various companies are beginning to offer direct-to-consumer genetic testing for individuals and the price of these tests is falling very quickly. Is this a good thing? As a genetic counselor, are you worried that patients might have their DNA sequence misinterpreted, leading them to making problematic health care decisions?

Bernhardt: Well I don’t think we really have enough experience to know what’s going to happen. Nor do we have a whole lot of information on how commonly people are getting tested. The kind of testing that is being done now is to test people for small changes in their DNA that might indicate a slightly increased risk for some common disorders and some traits. So the way people are getting risk information is in terms of relative risk. They are being told, for example, that you have a one and a half times higher risk for developing heart disease or developing hypertension, for developing Parkinson’s, for developing restless leg syndrome, than the average person in the population. I’m not sure how meaningful those kinds of risks are to people.

It remains to be seen how people are going to interpret those risks and, more importantly, what they are going to do about them. I think it would be great if we all knew that we were at risk for heart disease so we exercised more, reduced fat in our diet, didn’t smoke, and took much better care of ourselves. But I don’t know if people are going to act on the kind of results that they get.

SP: Are these tests going to be providing people with information that you think is particularly conclusive, or are we talking about indicators of small rises or decreases in susceptibility?

Bernhardt: For the most part, they are not diagnostic tests. There are a few tests out there from at least one company where they are testing for changes in specific genes that we know cause disease, and those are actually diagnostic tests, rather than susceptibility tests.

SP: Well that seems like an important distinction. Genetic discrimination has gotten a reasonable amount of exposure in the mainstream media recently, especially in the stories on genetic testing and its ethical implications that won Amy Harmon a Pulitzer Prize this week. How real is this threat that she and others have written about—discrimination by insurance companies or employers? Is there a risk that people will refrain from sharing the results of genetic testing with their health care providers?

Bernhardt: The fact of the matter is that fear of genetic discrimination is high in the public. But actual examples of genetic discrimination are quite few. So we have a disconnect between reality and concern. The theoretical concern is great, and in terms of genetic discrimination, it really depends on what kind of marketplace or area you’re thinking of. I think there’s a real possibility of genetic discrimination by companies that sell long-term care insurance or disability insurance. I think there’s less of a concern in the health insurance marketplace, primarily because most people get insurance through large employers—where there is no individual under-writing—and because many states have laws in place that prohibit discrimination in the health insurance market.

However, when you survey the public, most of their concerns are with regard to health insurance. If they get a genetic test that shows they are susceptible to something like breast cancer, they fear that they would lose their insurance, they will be charged more for insurance, or that something bad will happen. Examples of that are very, very few and far between. Nonetheless, the fear is high, and because of this, some people will avoid genetic testing, and some may not share information with their health care providers.

SP: What about questions of access? Not everyone in the United States has health coverage, and not everyone in the United States can necessarily afford this kind of genetic testing. Is that going to create inequalities beyond the existing lack of coverage?

Bernhardt: I think it certainly will, and even when we’re talking about the kinds of genetics tests that we order in our genetics clinic, which are diagnostic tests to diagnose genetic disorders, we sometimes are not able to get those tests covered for people who do have health insurance. So access issues already exist. These tests tend to be quite expensive. So it has already been a problem getting existing technologies made available to all citizens.

SP: Some of your past research is focused on the economic impact of genetic technologies for health care providers. Is this advent of personalized medicine and individual genetic testing going to have an impact on health care costs?

Bernhardt: That’s an unanswered question. Certainly, that is a concern: If people find out they are susceptible to something, they are going to request additional testing. On the other hand, there’s the hope that if people find out they’re susceptible to something, they may change their behaviors, so that they reduce their risk of ever developing an expensive disease. It’s an open question that we really need some time to work with.

SP: What else should people understand about the public policy implications of genetic testing?

Bernhardt: This is an area that is still fraught with a lot of uncertainties. Public perception is that as we begin to discover more genes that are associated with different disorders, we will have increased certainty about being able to predict someone’s susceptibility to developing a disease, and also to make a recommendation for reducing that risk. I think the public needs to be aware that we’re not always able to do that. So we all need to tread cautiously as we approach issues relating to new genetic technologies. My hope is that as we learn more, we’ll be able to make better recommendations: we’ll be able to improve the health of the population, and we’ll be able to have some cost savings. But the reality is that we are a long, long way from being able to do that.

Tags: genetics, healthcare, privacy, public health

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