Genetic discoveries have made huge strides in recent decades. These advances and new technologies are revolutionizing our access to genetic testing. Some companies offer “at-home” genetic tests that make it as simple as sending in a mouth swab to the company. Accredited labs also offer tests for specific genes believed to be linked to various diseases.
An international team led by Toronto General Hospital Research Institute Scientist and Peter Munk Research Chair in Cardiovascular Molecular Medicine Dr. Michael Gollob(link is external) recently used an evidence-based framework to investigate the appropriateness of genetic tests. The team focused on genetic tests used for Brugada syndrome—a rare heart rhythm disease that puts around one in 2000 people at risk for sudden cardiac death.
For the study, the researchers included a group of 21 genes for Brugada Syndrome that are currently tested by labs in the United States and internationally. Three teams independently reviewed each gene to determine whether sufficient evidence exists to link them with Brugada syndrome.
Only one gene, known as SCN5A, was definitively linked to Brugada syndrome—while evidence was lacking for the other 20 genes. All three teams independently agreed on these results.
These results are troubling because they reveal that many genetic tests may fail to provide real insights. Use of these dubious tests could lead to incorrect diagnostic conclusions, unnecessary testing, treatments and anxiety and stress for patients and families.
As to why the laboratories offer so many unproven tests, Dr. Gollob remarks that “Laboratories do not have to justify the inclusion of genes for clinical testing. It’s possible that the increasingly competitive marketplace and a ‘more is better’ mentality has led to rapidly expanding gene panels. Our findings indicate that more rigorous standards are required to ensure that genetic tests are meaningful.”
This work was supported by the US National Human Genome Research Institute. Dr. Gollob is supported by a Peter Munk Research Chair in Cardiovascular Medicine from the Toronto General & Western Hospital Foundation.
Hosseini SM, Kim R, Udupa S, Costain G, Jobling R, Liston E, Jamal SM, Szybowska M, Morel CF, Bowdin S, Garcia J, Care M, Sturm AC, Novelli V, Ackerman MJ, Ware JS, Hershberger RE, Wilde AAM, Gollob MH (Chair); NIH-Clinical Genome Resource Consortium. Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome. Circulation. 2018 Jun 29. pii: CIRCULATIONAHA.118.035070. doi:10.1161/CIRCULATIONAHA.118.035070.