I always knew I wanted to have a career in the medical field, but it took a personal experience for me to figure out exactly which path I should take. I was a junior in college when I started shadowing a cancer genetic counselor at NYU Clinical Cancer Center. After only a few months, I thought I was the expert in all things genetics and decided to arrange for an onsite carrier screening event at my school. Little did I know, I am a carrier for cystic fibrosis (CF) and so was my then-partner. When we came to learn that we’d be at 25% risk for each of our future children to be sick with CF, we decided to part ways. The experience was difficult for me, but I came out of it with a great appreciation for my genetic counselor friend. This friend talked me through my results and explained the options we’d have if we’d chosen to continue the relationship, such as using assisted reproductive technologies to ensure our mutations would not be transmitted to future children. Most importantly, she provided me with the emotional support I needed to make the decision about how to proceed with this newfound knowledge. I wanted to be just like her, and I knew that genetic counseling was right for me.
In the next three years, I worked my way into graduate school, got married to my (non-CF carrier) husband, and earned my Masters in Genetic Counseling from the Icahn School of Medicine at Mount Sinai. My first job was at Montefiore Medical Center in the Bronx, NY; there, I practiced both reproductive and cancer genetics and took a special interest in Jewish genetic diseases. I came to realize that I’d been feeling a true connection with my Jewish patients and that I wanted to bring my proficiency in genetics to my own community, a population afflicted with many types of genetic health issues.
Preconception carrier screening in the Jewish community has come a long way and has dramatically impacted the number of Jewish babies with genetic diseases. Like all preventative medicine, carrier screening is not foolproof, but over the course of my career, there have been so many advances and improvements in screening that it feels like we’re inching closer and closer to complete eradication of many of these diseases. When I started out, most genetics clinics were testing Ashkenazi Jews only and their screening panels were for 18 diseases, a vast improvement over the previous panels of 4, then 9, then 11 diseases. Within only a couple of years, the Ashkenazi panels increased to 36 and then 96 diseases.
With each panel expansion, I updated my own carrier screening and learned that I carried more than just CF. I always preached that “knowledge is power,” but witnessing my own results evolve from panel to panel made me appreciate that carriers are carriers whether they know it or not. It’s better to seek out this knowledge than to wait for something devastating to happen.
By now, genetics professionals have concluded that ethnic-specific testing is not effective enough and that all adults of reproductive age should be screened for a broad panel of diseases. After my third son was born, I decided to shift my career focus to outreach and counseling within the Jewish community and started working at JScreen. JScreen is a nonprofit, online genetic disease education and carrier screening program with a national reach. We are currently screening for 226 diseases, and I expect that number to grow.
As we learn more about our genetic makeups and testing becomes more accessible to the public, the demand for genetic counselors will rise. The need for professionals to interpret and counsel about complicated genetic concepts will never go away, and genetic counselors will prove to be critical members of the healthcare system. I am so pleased with my decision to become a genetic counselor and could not be more grateful for the opportunity that JScreen has afforded me. How lucky I am that I get to use my professional interests to serve my own community!