Applications of genomic testing have increased significantly and the model for integration into healthcare is evolving. Traditionally, genomic testing is initiated and managed by genetic professionals. Rapidly decreasing costs have increased demand for genetic testing in non-traditional areas, including use in healthy individuals to predict and prevent disease (termed “elective genomic testing”). This shift requires re-calibration of many established paradigms and careful evaluation of whether and how our current knowledge, which has been informed by indication-driven testing, can be applied in a predictive setting. While the medical community has intensified this debate, the demand for predictive testing is quickly increasing and a growing number of laboratories are offering tests for healthy individuals, ranging from targeted panels for actionable genes to whole genome sequencing. Guidance from professional societies is now urgently needed to educate consumers, physicians, and laboratories.
With the recent statement from the ACMG Board of Directors titled “Should secondary findings in genetics be used for general population screening?” (PMID 31019278), it is timely to discuss elective genomic testing. For the first 15 minutes of the session, Birgit Funke will set the stage by providing a historical perspective and foundational information about delivery models of genetic information in healthy individuals. This will include defining terminology, regulatory frameworks and outlining key issues that need professional community consensus (such as defining what types of results should be returned to healthy individuals given our limited understanding of their positive predictive value as well as penetrance in this population). Subsequently, four speakers will share data-driven and experience-based viewpoints. The session will conclude with 45 minutes of a panel discussion guided by audience questions supplemented by group-polling tools (audience response system) and pre-prepared questions as needed.
Speakers for this session include David Bick, who published a paper in 2019 (PMID 30453057) proposing a framework to evaluate both analytical and interpretative components of genomic tests and illustrates how it can be used in the expanding landscape of elective genomic testing. He will place this in the context of the evolution of his own practice as a medical provider. Marc Williams, who has been spearheading implementing genetics, genomics and family history in routine clinical care, including evaluating the impact of next generation sequencing on an unselected patient population through the MyCode Community Health Initiative. Jonathan Berg will share viewpoints from his recent papers (PMID 26540154 and 30260288) discussing the promise and peril of genomic screening including overdiagnosis in the general population. Finally, Mark Caulfield will describe the initiative by Genomics England to advance large scale elective genomic testing in England. He will address multiple aspects including sample acquisition, return of results, equity of care, legal challenges, and ethical considerations. All speakers will then participate in the concluding panel discussion.