COMMENTARY

Are Doctors Ready to Counsel on DTC Genetic Testing?

Arthur L. Caplan, PhD

Disclosures

August 07, 2017

Hi. I'm Art Caplan and I'm at the NYU School of Medicine in the Division of Medical Ethics.

There's a big rage these days to get more information about genetics to patients. Many companies are offering these services. You can see them advertised on television, and hear about them on the radio. You can find these companies on social media saying, send us your spit in a cup and we'll send you back a genetic analysis of your risk factors for disease. Sometimes they offer information about ancestry. I've even seen companies that say they can match people up as potential mates by looking at their DNA, which is somewhere between fraudulent and really ridiculous. There are even companies that say, we'll put you on the right diet for your genome—which might happen someday, but I think it is a little premature.

In any event, many more companies are offering services that say, we'll give you health information. The US Food and Drug Administration (FDA) has started to approve some of these tests. I'm worried because I think that when patients get risk factor information about very serious diseases, such as Alzheimer or Parkinson disease, even when they say they can handle that information, they need help. They need counseling. They need, at the very least, the opportunity for support. In other words, I don't think we should be doing genetic testing without offering competent counseling.

Sometimes counseling can come from their physician if they have one, if they're going to go to one—although some people just get the genetic tests sent to them, and they look at the printout. Sometimes the physician isn't completely comfortable interpreting the genetic test results that come back. There may even be issues about accuracy and about the need to confirm what an initial screening test might say that comes from a direct-to-consumer (DTC) company.

More to the point, if I have a question, what does it mean that I'm at twice the risk for Parkinson disease? Is that something I really need to reorient my life over? Is it a tiny risk that's just a little bit bigger than [the risk that] other people face? If I'm going to face Alzheimer's, is there anything that can be done? What kinds of medications and treatments are available? What does it mean for my relatives if I test positive? Are my biological relatives also likely to be at increased risk? Do I have to tell them I am at risk for a certain disease, or should I tell them that I got tested and they had better get tested too?

There are a number of questions that come up. It's one thing to say, I can deal with the results of a test that finds I have greater risk. Then there are all types of other questions. What does it mean for my insurance? What does it mean for my chances to get life insurance? Do I have to tell my employer that I did this test and I received a result? On and on they go.

Maybe not everybody wants that counseling. My view is that it had better be available. Should it be available in person? I think these companies that are starting to do these tests should say, if you want counseling, you can go to X, Y, or Z, and competent people—such as counselors, physicians, pharmacists, or whomever—can help you interpret and understand what the next steps might be if you're concerned about a risk. Certainly, websites could do that and give a lot of information that people might want to follow up on when they get test results. But to just argue that people can get the results and they'll manage—that seems to me to be a very optimistic and potentially dangerous situation. I don't think that's the way to introduce the world of genetics into healthcare.

I'm Art Caplan at the Division of Medical Ethics at NYU. Thanks for watching.

Talking Points: Are Doctors Ready to Counsel on DTC Genetic Testing?

Issues to consider:

  • A survey conducted by the Impact of Personal Genomics Study Group in 2016 found that among participants who discussed results with their primary care provider, 35% were very satisfied with the encounter, and 18% were not at all satisfied.[1]

  • Some healthcare professionals are concerned that physicians and patients aren't yet well prepared to understand personal genomic test results.

  • Because most genes linked to disease were discovered in sick people and their families, geneticists don't have an accurate understanding of how mutations behave in people who are not sick.

  • Some are concerned that widespread screening of healthy people could actually lead to harm.[2] They reason that because most genes linked to disease were found in sick people and their families, geneticists don't have an accurate understanding of how mutations act in people who are not obviously sick.

  • Some healthcare professionals contend that the genetic aberrations that the tests identify will be linked to a wide array of diseases, and scientists often do not have enough data to pick which of these associations are medically relevant.[3]

  • Because it is difficult to predict the medical effects of variants that occur in only a few people, it's impossible to evaluate how well a test would perform for every possible data point or disease risk, or how the information should guide treatment.[3]

  • Some clinicians worry that some companies are making unproven claims about how well these genetic tests can predict health patterns.

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