Evidence Shines a Light on the Hidden Dangers of Genetic Testing

In October 2016, the Mayo Clinic released a report that set the Internet abuzz with blog articles and radio pieces, all about genetic testing. The article detailed the case of approximately two dozen family members who decided to have genetic testing performed after a young relative died suddenly of a heart syndrome. The testing revealed that a number of them had a heart-related gene variant and that, according to the company’s database, they were at risk for the same heart syndrome. It was later discovered that the child died from a completely different cardiac-related genetic variant, and one that only he carried. This news came too late, however, as the family used the initial genetic testing information to have the young boy’s brother needlessly fitted with an implantable cardioverter defibrillator (ICD) with the hopes they would prevent another tragedy.

The same day the Mayo Clinic report was released, National Public Radio (NPR) broadcast a report by WNYC Radio regarding the BabySeq project, a “Genome Sequenced-Based Screening for Childhood Risk and Newborn Illness.” The study, funded by the National Institutes of Health (NIH), is a randomized clinical trial with the goal of examining the best uses of genomics in clinical pediatric medicine. Specifically, the researcher wanted to create and test methods for integrating the information gleaned from genetic sequencing into the care of newborns. The research has been driven by, among other factors, the rapid expansion and cost reduction of whole-exome (protein coding genes) sequencing, which goes beyond the standard “heel-prick” blood testing.

There is a common thread between the two reports. As the market of commercially available genetic tests continues to multiply at an exponential rate (presently more than 65,000 available), it has become apparent that there is a steadily increasing need for some sort of standardization. Both of the physicians profiled in the reports agree that there is no clear consensus on how to manage the test results. They can be helpful, useless, or harmful. Because there is virtually no regulation from the Food and Drug Administration (FDA) for the plethora of genetic databases, there is little-to-no agreement on whether a genetic variant is actually disease causing.

This variability of interpretation has an unquestionable impact on the management and outcomes, or clinical utility, for the patient being tested. Do they have that defibrillator implanted? How do they handle the emotional stress of discovering their child has a gene for an untreatable condition? What do they do when they find out their child carries a cancer-related gene that they also carry? What happens when they discover that all that information is wrong?

We created the Genetic Test Evaluation (GTE) program to light a clear path for both providers and payers to navigate the diagnostic odyssey of genetic testing. Our GTE Indication reports specifically address the clinical utility of genetic tests, including the therapeutic decision-making and impact on the family and the patient, all based on the available scientific evidence, and backed by our industry-standard Hayes Rating.

Petra Nass, Senior Scientific Officer & Director, Research, Innovation, and Quality Assurance at Hayes

As Senior Scientific Officer & Director, Research, Innovation, and Quality Assurance at Hayes, Petra Nass is responsible for product innovation and for ensuring the scientific and methodological quality of the Hayes evidence products.