Translating Genes Into Health® — Or Dollars?

Genetic testing for fun and profit is by now part of the consumer landscape. For less than $100, consumers can buy an interesting if dubiously accurate assessment of their ancestry. For more money, more data is supplied. Medical information may be included, although the consumer-oriented companies tend to be careful about those predictions. But the lavish media attention and advertising budgets of the direct-to-consumer genetic testing companies have normalized all types of genetic testing — many people expect gene tests to be part of their wellness regimen as well as integral to family building if they intend to become parents.

The rapidly expanding genetic testing occurring in reproductive contexts isn’t actually answering a call from consumers; it seems to be primarily driven by testing labs and, specifically, their profit motives. The tests are promoted to doctors and patients as providing crucial information to help with reproductive decision-making, but they often have limited clinical utility or are provided without comprehensive counseling that is needed to understand the implications of the results.

Take, for example, the new guidelines for carrier screening—that is, genetic testing to identify an unexpressed gene in an individual who might pass it on to a child. In July, the American College of Medical Genetics and Genomics (ACMG) issued a new Clinical Practice Resource for carrier screening, recommending the expansion of testing panels to a whopping 113 genetic conditions for all patients who are considering pregnancy or already pregnant. The document “reviews the current status of carrier screening, provides answers to emerging questions, and recommends a new tiered, consistent and equitable approach for offering carrier screening to all individuals during pregnancy or preconception.”

Unfortunately, as genetic counselors Katie Stoll and Robert Resta have detailed, the ACMG made a hash of it. Stoll and Resta point out a range of deficiencies in the guidelines, including:

• lack of evidence for concrete medical benefits from carrier screening or for enhanced preparation for parents who might have a child with one of the conditions;
• debatable criteria for the tiered ranking of “severity” of conditions;
• absence of inclusion, once again, of people with the conditions listed in development of the guidelines; 
• failure to consider the possibility that patients might want to select which conditions should be included in any panel

ACMG is also advocating for state legislation which would prevent genetic counselors from ordering tests, despite the key roles these counselors play when patients are pregnant or planning to be.

The ACMG touts its new guidelines as a step forward in equitable access to care. But equity is not a word to be tossed around to sell more product. For the testing companies, bigger test panels recommended for more patients equals bigger profits. That’s why it’s troubling to see that the list of ACMG’s major corporate sponsors features genetic testing and sequencing companies. The ACMG Foundation’s Corporate Partners Program supports ACMG’s “clinical and laboratory practice guidelines, advocacy campaigns, continuing education programs, and the Foundation’s work to steer medical students into the genetics and genomics field.” Corporate Partners kicking in big money include genetic testing and gene therapy companies such as Illumina and Takeda (Diamond Partners at $250,000+ a year) and Invitae and Natera (Platinum Partners at $100,000+ a year). 

Are references to “equity” by ACMG just an attempt to obscure the conflicts of interest involved when a professional association that establishes clinical testing guidelines also receives significant funding from the labs?

Advancing true equity and inclusion would require far more, in particular the involvement of a broad range of stakeholders, as called for by Stoll and Resta. This is perhaps the scariest part of the ACMG approach to carrier screening: the complete lack of interest shown in the views of anyone not actively involved in the relevant technological or medical fields. The disability community is being shut out of the discussion, which is clearly a terrible mistake. So is everyone else. This needs to change.