The MyCode Community Health Initiative, run by Pennsylvania-based Geisinger Health System, is working to bring clinical genome sequencing results to patients as a form of preventative care for the nonprofit organization’s 3.3 million patients. In 2014, Geisinger formed a partnership with Regeneron for free use of its burgeoning DNA sequencing capabilities. Over 166,000 people have enrolled to participate in the study so far, and the initiative has so far provided genomic results for 92,400 people. Approximately 85% of participants have also agreed to be part of an experimental program entitled GenomeFIRST Return of Results, which contacts participants whose DNA sequences suggest a risk for a particular disease.

On top of accumulating sequencing data in order to prevent and treat illnesses, the Geisinger project also hopes to educate primary care physicians with little to no genetic knowledge on informing patients of genetic mutations, as well as “cascade-testing,” which entails following up with relatives who may also be at risk.

Geisinger is focusing not only on the ethical and medical issues of genome sequencing, but also whether genomic testing and screening is cost effective as a preventative measure. This cost for genetic screening would likely be the responsibility of insurance companies, which are likely to only embrace the measure as long as costs stay sustainable.

A major factor affecting costs is the unpredictability of human behavior. Based on recent data, about 50% of people informed of a genetic disease mutation meet with a genetic counselor, 25% go to a primary care provider and the remaining 25% do not act immediately. For carriers who do nothing, the cost of the genetic screening is wasted, whereas carriers who overreact out of fear may end up consuming excessive health services.

Another factor is the reluctance of many patients to allow their DNA to be sequenced, due to a lack of trust of health care establishments. Geisinger researchers will work to address the issues surrounding clinical genomic screening, as well as develop a counseling system providing additional support to families in which children have been found to have genetic mutations.

Source: Science