On my mind this DNA Day: The power of genomic knowledge

I’ve witnessed firsthand the lifesaving power of proactive genetic information multiple times in my “previous life.” The first 15 years of my genetic counseling career were mainly dedicated to working with patients and families with hereditary forms of heart disease.

Most of the time the patients I saw were coming in to see me for genetic counseling to figure out why they or their loved ones had developed heart disease at a young age, or why there were multiple people in their family with the same (or related) types of heart problems.

Patients were referred by their doctors after they had already experienced symptoms, or after a relative, or even several relatives, had developed heart disease, including the most severe presentation: sudden cardiac death.

Two months ago, I joined Geisinger Health System’s Genomic Medicine Institute. What brought me to Geisinger? Just like our DNA is double-stranded and intertwined, so are my reasons for coming to Geisinger.

The first reason I’m thrilled to be part of the Geisinger team is that now I’m engaged in one of the largest and innovative genomics projects across the globe today — the MyCode® Community Health Initiative.

With MyCode, we have the power to practice proactive, preemptive, precision health genomic counseling. What do I mean by this? We can bring lifesaving genetic information to research study participants, as well as test and develop the best ways to help participants and their families feel empowered by the information and act on it with their healthcare team.

Some of the participants may have had previous symptoms they didn’t realize could be hereditary. Others may not yet have any signs or symptoms, but will receive genetic results informing them about conditions they and their healthcare team can be on the watch for in a preemptive, proactive fashion.

So far, the MyCode team has returned over 300 results to patient-participants. Over the course of the next several years, we will return thousands of results, empowering many individuals with knowledge about their unique genetic risks.

Another area we are heavily focused on is cascade genetic testing for the families of MyCode participants who receive a medically important result. Cascade testing is the stepwise process of offering genetic testing to all at-risk relatives in the family for the disease-associated DNA change, or variant, first found in the MyCode participant. Cascade testing allows everyone in the family to find out whether they inherited the genetic predisposition.

So, what is the other strand in my double-helix reason for joining Geisinger? It’s easy — the people. Geisinger has one of the largest groups of genetic counselors across the country, as well as outstanding doctors and researchers in the areas of genomics, bioethics, health behavior and beyond.

I am excited to work with all of these people to deliver genomic information in cutting-edge ways that will hopefully promote healthy changes to keep Geisinger patients and their families healthy, while also upholding the highest ethical values.

Amy Sturm, LCGC, is a professor and director of Cardiovascular Genomic Counseling in the Genomic Medicine Institute at Geisinger. She is interested in the development of novel methods of genetic and genomic counseling, active cascade testing efforts and cardiovascular genetics and genomics.