Elinor Langfelder Schwind, MS, CGC® is Senior Genetic Counselor at The Cystic Fibrosis Center of Mount Sinai Beth Israel Icahn School of Medicine.
Why did you choose to become a genetic counselor?
A (very) long time ago a wonderful biology teacher introduced me to the emerging field of genetic counseling. Like many of my friends and family at the time, I only knew about doctors, nurses and psychologists, and none of those professions seemed like the right fit. Genetic counseling resonated deeply with me for many reasons, including the ability to develop scientific expertise in a fascinating field and leveraging that expertise for the benefit of families in need of help and support.
What path did you take to get to your current role?
In college I became interested in the ethical and social implications of the Human Genome Project and was fortunate to work for the program after graduation. There I met many genetic counselors and appreciated the way they thought about the issues and communicated their opinions with clarity and empathy. They were also very encouraging about the future of the field and passionate about their work, so I applied to graduate programs. They were right!
Why did you choose to specialize in CF genetics?
Having done some prior work in CF, I was invited to interview at a local CF Center – and it was a great fit. Our group has stayed together for more than 25 years! The multidisciplinary CF team is a fantastic model of care, and we take care of our patients and families throughout the lifespan. Working in CF encompasses all aspects of genetics – preconception/prenatal, newborn screening, pediatrics, adolescence and adulthood, where the preconception/prenatal comes back into the mix as people I knew as children are having families of their own. There is a lot of research, variant classification, pharmacogenomics, difficult diagnoses and variable expressivity to contend with on a daily basis. There’s always something new to think about and apply to improve the lives of my patients and their families.
What do you think has been the biggest change in CF since you have been part of that specialty?
Without a doubt, the FDA approval of highly effective CFTR modulators, beginning with ivacaftor in 2012 and most recently elexacaftor/tezacaftor/ivacaftor triple combination therapy for people with at least one copy of F508del has been the most impactful development in CF. Going from proof of concept to an approved therapy in under a decade has been remarkable.
Are there any common misconceptions about CF in health care?
There are many – one is that CF is a childhood disease. Over 50% of people living with CF today are adults. Another is that genetic counseling for cystic fibrosis is as simple as talking about Punnett squares and 1 in 4. While CF is often viewed as a community with high levels of resources, the majority of CF patients and families do not have ready access to genetic counselors through their CF care centers.
Are there any CF resources that you rely on in your work for patients or families that you’d like to share?
The CFTR2 database
is an invaluable resource for patients and clinicians alike to learn about the range of CFTR genotypes and phenotypes. The Cystic Fibrosis Foundation website
is also a well-vetted source of information for patients and families.
What advice would you give to families with a new CF diagnosis or couples at risk?
That’s a tough question to answer, as of course the individual needs of families differ from each other; the same applies to couples with an increased likelihood of having a baby with CF. The CF care team ensures that families facing a new diagnosis are not alone, there is a knowledgeable, caring group of providers who will meet them where they are and wrap around each family. For newly diagnosed individuals and couples learning about their carrier status and increased likelihood of having a baby with CF, I would strongly advise meeting with a knowledgeable provider before reading about CF on the internet and making assumptions about their child’s (or their own) disease-course.
Any other thoughts that you’d like to share about your career or the GC field?
I would encourage genetic counselors to engage with their local CF care centers. The relationships between GCs and CF care centers, once established, improve access to high-quality genetic counseling for people with CF and their families, and, invariably, genetic counselors are embraced as valued members of the CF team.