Sharon is a patient of mine who has a problem with debilitating migraines. She also has osteoporosis in spite of a healthy diet and a ridiculously high level of physical activity. When she read about a genetic test she could purchase online without a prescription, she ordered it. Then she brought the results to me to review.
Many patients order these direct to consumer genetic tests. Are they a good investment? Are the results accurate?
Researchers in the UK recently reviewed the risks and benefits of direct to consumer (DTC) genetic tests. They found that positive results are not always accurate and usually need follow up testing. Sometimes negative results are not accurate either, because they don’t test for more uncommon disease-causing genes.
Suppose a man gets a DTC genetic test and finds he has a gene that increases his risk for Parkinson’s disease. He’s upset because there’s no family history and he knows that’s an awful disease. Worse, he did not realize DTC genetics testing results are not covered by the HIPAA privacy regulation so they can be disclosed to life insurance and health insurance companies. He may wind up paying much higher insurance premiums for the rest of his life for a test result that may not be accurate. Worse, he would likely have anxiety and spend the rest of his life waiting for tremors, memory loss and other PD symptoms to start.
Suppose a woman has a strong family history of breast cancer. Should she get a direct to consumer genetic test to check for the BRCA breast cancer genes? That’s a tough question to answer without knowing the specifics. Did her family members with breast cancer get tested? Were they positive or negative? What would the woman in question do with that information? Would she have her breasts and ovaries removed if she were positive? Would she neglect to have annual mammograms if she were negative?
The best place to have these discussions about genetic testing is with your doctor, and likely with a medical geneticist. A pedigree (chart of family members and their medical history) can be done which can help spot patterns and identify which tests will be most helpful, and most cost effective. You may pay more for the targeted tests you choose to have done, but the results will be more accurate and applicable to your specific situation.
What happened with my friend Sharon? Her test was positive for a genetic variant which makes her body not process folic acid well, which increases the risk of migraines. She needs to take higher supplemental doses of folic acid which help reduce her risk of cardiovascular disease and also help keep her migraines in check. That was really the only useful finding. I usually have my patients with migraine take B vitamin supplements (including folic acid), so did she really get anything from her genetic test?
If you’re considering having a direct to consumer genetic test done, there are 3 things to think about:
- What are you looking for?
- What will you do with the information?
- Are you prepared to have your health and life insurance companies in the future aware of increased genetic risks?
Discuss your reasons for considering a DTC genetic test with your doctor. Your doctor may be able to order a more specific, targeted, accurate test which WILL be HIPAA protected. If you have deeper concerns or a family history of an unusual problem, a medical genetics referral is the best option.
QUESTION: Have you or someone you know done direct to consumer genetic tests? What was your experience?