Practice Matters

The Ethics of Genetic Testing for Inherited Cancer-Predisposing Genes

Steven Sorscher,(1) MD, and Alisha T. DeTroye,(2) MMS, PA-C, DFAAPA

From (1)Biotheranostics, Inc./A Hologic Company, San Diego, California; (2)Atrium Health Wake Forest Baptist, Wake Forest University School of Medicine, Winston-Salem, North Carolina

Authors’ disclosures of conflicts of interest are found at the end of this article.

Correspondence to: Steven Sorscher, MD, Biotheranostics, Inc./A Hologic Company, 6333 Sequence Drive, San Diego, CA 92121 E-mail: ssorscher1@gmail.com

ABSTRACT

Once an individual has been identified as a carrier of an inherited cancer-predisposing gene or pathogenic germline variant (PGV), there are measures that have been proven to prevent and diagnose the associated cancers at an earlier, more curable stage. Consequently, patients who are offered and undergo testing are afforded opportunities and health-care information that profoundly affect their lives and the lives of their family members who choose to be tested as well. For years, the debate over the controversial topic of whether all patients should be offered germline testing for cancer-predisposing PGVs centered around questions of the analytical sensitivity of the assays (i.e., the ability of the test to correctly identify those who carry a PGV), legal implications for those identified as PGV carriers, cost to the health-care system, and the uncertain management implications of test results. Currently, the standard of care is to offer testing to individuals where the anticipated benefits of testing outweigh the harms. Here, the ethical question of whether all patients have the right to testing for PGVs is considered.

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