Shawneequa Callier, J.D., M.A., assistant professor of bioethics and health care law in the Department of Clinical Research and Leadership at the George Washington University School of Medicine and Health Sciences, sat down to talk about a hot topic in the media right now: home health genetic testing and the risks and benefits of using these types of tests.
What should you know before exploring your genetic code?
Before purchasing a genetic test from companies, such as 23andMe, you should understand that the results will be limited. These tests only look at a partial picture of your DNA. For example, one person described it is as pulling out a page from a book, and expecting to have a full understanding of the story. These tests look at single nucleotide polymorphisms (SNPs) — they don’t look at the person’s whole genome. The tests don’t consider a person’s environment or family history, so the information consumers receive in many cases can be misleading.
What do these tests mean for studying DNA?
I think this could be a good way for consumers to contribute to genomic research. In order to advance personalized medicine and our understanding of these SNPs, especially the role they play in increasing a person’s risk of developing certain diseases, we need as many people as possible to feel comfortable about participating in genomic studies. 23andMe has already made some discoveries with regard to Parkinson’s disease as a result of enrolling its customers in research. If these companies can demonstrate ethical consent and research procedures, this could be another strong option for people who want to get involved in genomic research activities. In addition, many researchers debate whether and how to return results to research participants. If done well (scientifically, legally, and ethically), the benefit of an interface like 23andMe’s could be a useful way to engage participants about the meaning of their DNA and genomics in general.
What are the dangers and misconceptions associated with using these types of tests?
Following up with your doctor if test results are abnormal or raise any red flags is important. You should never take it upon yourself to stop using medication or not follow-up with a physician because of a home health genetic test result. Only a knowledgeable physician who is qualified to assess your genetic risk can truly guide your medical decision-making. You also need to read the privacy policies because they can be subject to change. The information consumers share can be distributed to third parties, so consumers have to understand that risk.
What are the positives associated with using these types of tests?
These tests are great in that they can prompt discussion with your physician. They also encourage engagement in your own health care and improve general understanding of genomics. This is important because genomic literacy is low among providers and consumers.
Are certain diseases or conditions easier to detect than others?
Each company has its own array of SNPs that it tests. Many of them look at some of the genes influencing breast cancer, Alzheimer’s disease, Huntington’s disease, and cardiovascular disease—to name a few. You can find out if you are going to develop a particular BRCA mutation, for instance, however that information is incomplete. Just because a person is negative for a particular BRCA mutation doesn’t mean that his or her risk for breast cancer is now zero. On the other hand, a person’s risk for Huntington’s disease may indeed be high, which raises the question of whether he or she is going to receive adequate psychological counseling. In most cases, different mutations and factors that are undetected by these tests can play a role in a person’s future health risk.
What does the future look like?
There is a huge push to improve physician education and understanding about genomics. There was fear when these technologies become available that patients would show up at a doctor’s door with a print out of their genomes and the physician wouldn’t know what to do with the information. Physician knowledge could be a huge bottleneck in terms of the utility of these technologies, because doctors are still struggling with what to do with such a large list of potentially relevant genetic test results. My hope is that direct-to-consumer companies will work with FDA and other stakeholders to create innovative strategies for properly educating customers, including developing creative ways to label the different types of tests to distinguish between medical and nonmedical and low risk verses high risk. I think we would be missing an opportunity if we were to ban these types of tests altogether.