Be careful when ordering your own genetic tests

Direct-to-consumer genetic testing is increasingly available to the general public. Reduced cost and ease of testing make this service easy and seemingly harmless. For less than $100 and without even having your blood drawn (a saliva sample is sufficient), a private company promises to provide you with a information about your ancestry and your health.

However, undergoing genetic testing of any kind is not a trivial decision. It is not like having routine blood work done at your doctor’s office. Participants in this commercial enterprise are opening the door to a vault that they can never close–and for the time being do very little about. Knowledge of ancestry, disease carrier status, and other disease risk factors will have far reaching effects for individuals and their entire family. Genetic testing should only be performed with expert counseling about the risks and benefits of choosing to undergo screening. Direct-to-consumer genetic testing services succeed on promoting benefits without identifying risks. This is not proper informed consent to testing.

There are serious risks to genetic testing that consumers should consider. One risk would be finding out something you didn’t want to know, such as non-paternity in your family or that your ancestry wasn’t what you thought it was. These incidental findings could be devastating and/or life changing. Among the most worrisome risks–despite every assurance about the privacy of your results from a private company–is the theoretical risk for this data to be sold to a 3rd party and impact your ability to obtain health or life insurance. Genes associated with certain diseases are the ultimate “pre-existing condition”. Another risk, which emphasizes the importance of counseling, is misinterpreting the results.

Take, for example, the BRCA gene test, which has been associated with breast cancer risk. The BRCA1 and BRCA2 gene mutations account for less than 5% of breast cancers, but if you have one of these mutations your individual risk of breast cancer might be up to 75%. Understanding the implications of a positive or negative test result and knowing what to do next should be part of a discussion with a trained professional–either a genetic counselor or a physician trained in this area. Patients should be informed of options that exist before they undergo genetic testing. Patients might not know that “gene therapy”, i.e., a treatment that targets disease associated genes, is not currently available despite how easily we are able to test for these genes.

Current risk-reduction strategies for women with a BRCA gene mutation include increased frequency of screening tests (e.g., mammogram), elective surgical removal of both breasts, or prophylactic chemotherapy. None of which are 100% effective. The latter two options are rather severe prospects for a healthy woman in her 30s to confront on her own. Genetic screening is clearly more nuanced than direct-to-consumer cholesterol screening, where the general public is probably aware that an abnormal result might lead to a doctor recommending a pill.

Furthermore, imagine receiving a negative BRCA test result and misinterpreting this to think that you could never get breast cancer when 95% of breast cancer is not associated with these genes. Imagine receiving the positive test result in the mail without the immediate counsel and/or reassurance of a medical provider you trust? The skill of “delivering bad news” is a didactic component of medical school curricula and if you’ve ever been on the receiving end of bad news delivered well or poorly you surely know why. Where is the comfort of hand holding and the reassurance of an action plan when a patient spits into a container and receives a report in the mail shortly thereafter?

Screening, the testing of asymptomatic individuals, is a public health measure designed to detect diseases early in order to benefit patients by early intervention. Knowledge of the contribution that genes make to human disease offers to improve existing screening programs not limited to: newborn screening, prenatal screening, and cancer screening. These screening programs are undertaken by individuals with the help of their pediatrician, obstetrician, and primary care provider, respectively. Why leave out the trained professional when choosing genetic screening tests?

Benjamin T. Galen is an internal medicine physician.

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  • trinu

    This paternalistic attitude may have something to do with people’s seeking the testing without consultation from a counselor or medical geneticist.

    • Adriana

      Completely agree. Once again, patients are made out to be simply too stupid, ignorant, or emotionally unprepared to handle information. The prescription is always the same: review your results with someone else who you’ll be paying for the mere privilege of hand-holding.

      Why not embrace these changes and work actively to incorporate them into practice? Why not encourage people to have more of a stake in their own well-being? If anything by encouraging folks to do so, they become more aware of their own risks.

    • CRT1981

      I agree with you @trinu:disqus, @disqus_preurbuZVW:disqus and also @facebook-743004321:disqus below.

  • Joe Borgenicht

    Sure, be careful. But the truth shall set you free. How will we move the bar on diagnosis if we don’t catch disease sooner?

  • Natalie A. Sera

    I also resent the implication that we’re too stupid and emotionally fragile to deal with the results of genetic testing. I have, in fact, had genetic testing done, and for the most part, it reassured me that I DON’T have anything grim lurking in my genome. On the other hand, I am at somewhat increased risk for certain conditions, and all it means is that I will inform my doctors of that, so we can watch for them. Some of them are treatable, and while others aren’t, it gives me time to consider what I would do if I actually developed these conditions. That’s a whole lot better than getting smacked in the face and having to deal with raw emotions when you actually develop the condition!

    However, I am among those who are pro-active about their health; the people who actually ARE too stupid or emotionally fragile to deal with genetic testing are not likely to get it anyway, so I think this author is making a mountain out of a molehill, and protecting his turf on the way.

    • Clara T.

      These are the same breed of doctors who opposed home pregnancy tests for women.

      • Guest

        Hahahaha! Too true. The world would come to an end if women were to be allowed to home test, and find out they were pregnant, and not be in the presence of a worldly and wise doctor to break the news and tell her what to do next!!!!!
        Patients must be treated as children, ALWAYS!

  • Jamie Galen

    I think the best tack to take when responding is to reassure the commenters that you, in no way, think the public is stupid. Rather, that the burden of the knowledge obtained may be difficult to handle without the proper context (which the mail in testing cannot provide but which genetic counselors can.) This is inherently different from home pregnancy testing in that you either are or are not pregnant, the test does not require medical knowledge to interpret. The implications of most genetic testing is not even clear for the individual patient and is likely of limited utility anyway in most disease prevention…blah blah blah

    You can use me as an example, I had genetic testing for hemophilia (my nephew has it), even as a physician I was completely unprepared for how devastating the positive test was for me, being able to work through its meaning with a genetic counselor was enormously helpful.

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