This is the direction direct-to-consumer genetic testing needs to take – MedCity News

The recent FDA approval of 23andMes direct-to-consumer genetic testing is an interesting and inevitable milestone in the dissemination of medical knowledge to the public. However, we must proceed with caution to ensure that this information is understandable and not anxiety provoking.

Over the past two decades, we have seen a dramatic increase in our knowledge about the genetic basis of many diseases. Most of the clinical use of this genetic information has been to counsel selected populations that were deemed high risk based on family history or other features. The information was conveyed to patients under the guidance of medical professionals who are skilled at interpreting the prognostic implications of the test results and who can advise patients about treatment options.

Recent advances in technology permit the whole genome to be screened for serious diseases at reasonable costs. Given the thirst by consumers for access to health information, direct-to-consumer testing was bound to happen.

Overall, I believe that readily accessible genetic information has the potential to improve public health if also accompanied by access to medical interpretation and counseling regarding test results.

For many, the implications of genetic mutations are quite complex, as they may only indicate increased risks of disease, not the inevitability of disease occurrence. Additionally, implications for social and family consequences of test results must be addressed. It is interesting that the first set of diseases chosen by 23andMe are diseases with public fear factors such as Alzheimers and Parkinsons rather than the more lethal conditions that can be identified by genetic testing. For example, the American College of Medical Genetics (ACMG) has published a list of 56 serious diseases that may be incidentally found during genetic screening (during research studies or exams for other conditions). These include genetic predispositions to cancer, heart disease, and neuromuscular diseases. Careful medical counseling is required when these genetic alterations are identified.

It is not a question of if but rather when the public will demand over-the-counter access to screening for more serious diseases, including the BRCA breast cancer genes or hereditary colon cancer genes.How the public will handle this information is unclear, but most studies on medically supervised genetic testing have been favorable. And based on the feedback I hear from patients and their families in my oncology practice, they would all encourage greater public awareness and testing for these conditions.

But even before we reach that stage, the current lack of required professional counseling regarding the interpretation of test results is troubling. The cautionary concerns that have bubbled up in recent years around Dr. Google and the surge in self-diagnosis from sites such as WebMD will need to extend to genetic testing. For example, some individuals may welcome the reassurance that they do not carry high-risk genes. But a positive test result could be met with great angst without understanding that for some mutations the risk of disease can be high, but for other genes the risk can be low. This is where counseling is critical.It will be incumbent on test manufacturers to provide access to genetic counselors so the results can be placed into proper context.The public must be properly informed that merely carrying a certain gene does not doom an individual to developing a disease, but similarly must be counseled when medical actions are appropriate.

Although direct-to-consumer advancement and FDA approval should be celebrated, it is by no means an endorsement to open a floodgate of genetic testing. When we consider the growing consumerization of medicine and the reduction in genetic testing costs, this was a logical progression. I hope that we will see more in terms of increasing access to medical advances and that more private enterprises will step up to satisfy the publics thirst for credible medical information. Other advances in technology including healthcare monitors and wearables, home diabetes monitoring and medication reminders will place consumers in more control of their own health. Changes in data exchange, including greater access to electronic medical records and direct transfer of laboratory results, will also help patients stay aware of their diseases.

The increased benchmarking of doctors and hospital systems will also help consumers make more informed choices about where to receive healthcare. What the medical community learns from these advancements and how consumers respond will we all be willing to give more for science or vice versa? could easily accelerate our path to moonshot. Or perhaps we will see a recoil and consider this a time of oversharing of too much information. Time will tell. But in the meantime, I look forward to the next logical step: More channels and greater access to counseling so patients are not interpreting these results in a vacuum.

Photo: DrAfter123, Getty Images

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This is the direction direct-to-consumer genetic testing needs to take - MedCity News