Food and drug administration’s regulatory shift on direct‐to‐consumer genetic tests for cancer risk

Abstract

INTRODUCTIONOn March 6, 2018, the US Food and Drug Administration (FDA) authorized 23andMe's direct-to-consumer (DTC) test that provides information on 3 BRCA1/BRCA2 gene mutations by analyzing DNA from a consumer's self-collected saliva sample. 1 This is the first FDA-authorized DTC test that detects the genetic risk of developing breast and ovarian cancer in women and breast and prostate cancer in men. Its authorization signals the FDA's significant progress in establishing a sensible approach to regulating DTC genetic health risk (GHR) tests that aims to balance consumers' access to innovative technologies with the need to ensure analytical and clinical validity. An easing regulatory environment and burgeoning consumer interest are estimated to triple the market for DTC genetic testing from approximately $99 million in 2017 to $310 million in 2022 with 25% annual growth. 2 At the same time, however, challenging regulatory, social, and ethical questions remain.

DIY Genetic Tests: A Product of Fact or Fallacy?

“…In 2018, the FDA approved the use of a DIY genetic test manufactured by 23andMe to test the presence of three BRCA1/BRCA2 gene mutations (Yang and Zettler 2019). This was the first FDA-approved DIY genetic test screening for risk of developing breast, ovarian, and prostate cancer.…”

“…Most importantly, they will aid in the interpretation of results. This also negates issues associated with "genetic responsibility" (Yang and Zettler 2019). If a hereditary disease is identified, a genetic counsellor, in consultation with other healthcare professionals, can counsel the patient with respect to the disease and the need to inform other family members who may also be carriers.…”

Potential pitfalls of reproductive direct-to-consumer testing

“…The regulation is also still lacking to protect the consumer. Not all DTC tests are reviewed by the US Food and Drug Administration before marketing, and there may be poor oversight regarding laboratory techniques, ensuring the clinical application of results, monitoring consumer response or comprehension of results, and surveillance for unintended downstream consequences ( 5 , 6 ). Direct-to-consumer tests that are not reviewed by the US Food and Drug Administration are those considered to be for low-risk conditions, whereas those that have greater implications are reviewed to determine analytical and clinical validity ( 6 ).…”