Genetic Testing: A Rising Star in Preventive Screening

Although we tend to think of population-wide genetic testing as a relative newcomer, it made its debut more than half a century ago when we began to test all newborns for phenylketonuria (PKU), an inborn metabolic error that, left untreated, resulted in mental retardation.

In the 1970s, population-wide testing was initiated for two other serious, life-threatening conditions that are passed to children by their parent carriers – sickle cell disease in the African-American population and Tay-Sachs disease in the Jewish population. Serum marker screening tests were introduced as well (e.g., Down syndrome, cystic fibrosis) and offered to all pregnant women.

It’s hard to believe that, until the early 2000s, genetic testing was only available when clinically indicated and ordered by a physician, with board-certified providers interpreting and delivering the results; essentially, all responsibility for the security and quality of genetic information resided within the healthcare system.

I can still recall hearing about one early direct-to-consumer (DTC) genetic testing campaign – a “Spit Party” that launched 23and Me – and thinking that it wouldn’t take long for these tests to become part of a routine patient workup. Today, DTC genetic testing is evolving at breakneck speed as a result of market competition, mounting consumer interest, and ongoing research into the effect of genetics on personal health; employee genetic testing is becoming a bona fide trend.

This being the case, it came as no surprise when Jefferson (my employer, and one of the Philadelphia region’s largest health employers) rolled out a free genetic testing benefit … and more than 10% of its 30,000 workers accepted the offer in the first couple of months.

Produced by a California-based firm (Color Genomics), the panel of genetic tests offered by Jefferson includes cancer risk (30 genes), heart disease risk (30 genes), and medication metabolism (14 genes). To avoid confusion or undue anxiety about test results that show a high risk for a potentially life-threatening condition, every test includes free telephone sessions with genetic counselors. And, as part of the benefit, Jefferson also will pay for additional screening tests (e.g., mammograms, colonoscopies) or preventive medications for employees who discover they have potentially dangerous genetic mutations.

Employees were quick to recognize the benefits for them, but what are the benefits to an employer like Jefferson? First, offering the benefit conveys a message that the employer cares about the employees’ health and long-term wellbeing; and this, in turn, may have a positive effect on loyalty to the institution. Second, chances are good that it may help bend the long-term cost curve by preventing or delaying the onset of expensive and disabling cancers, strokes, and heart attacks.

As the genetic testing trend gathers momentum, I foresee an even greater benefit for the health of the nation’s entire population.

In my view, population-wide genetic testing lends support to both the Triple Aim (i.e., improving the health of the population, reducing per capita cost, and enhancing the experience of care) and the National Institute of Health’s All of Us Research Program goals for precision medicine.

https://www.medpagetoday.com/columns/focusonpolicy/81396