Brenda Finucane, MS, CGC
® is a Professor and licensed, Certified Genetic Counselor at Geisinger, Autism & Developmental Medicine Institute.
What made you choose to become a genetic counselor?
Like many genetic counselors, I fell in love with the science (such as it was!) as an undergraduate. My passion was specifically in genetics, and while I wasn’t interested in a laboratory career or medical school, I wondered how to channel this focus into a patient-facing role. Genetic counseling was the perfect fit.
What has your career trajectory looked like and what is your current role?
I’m now at the tail end of my career as a genetic counselor, and it’s been an incredible experience. When I originally began working in the mid-1980s, the two main job options for genetic counselors included traditional roles supporting medical geneticists in pediatrics or prenatal settings. From the start, I was fortunate to find a unique position at a human services agency for individuals with developmental disabilities in the Philadelphia area. What it lacked in salary, it more than made up for in autonomy, and over the years, I was able to hone my clinical interests into research and forge strong collaborations with professional colleagues at academic centers throughout the world. By 2012, having served in numerous leadership positions and with a strong portfolio of published research, I was recruited as the Associate Director for a newly formed Autism & Developmental Medicine Institute at Geisinger in central Pennsylvania. All my years working in the non-profit disability community uniquely prepared me for this late-career leap to a high-powered academic setting, where I continue to thrive. Although I recently stepped down from my full-time leadership role, I continue to be involved at Geisinger in research projects spanning a broad range of developmental and psychiatric disorders.
July was Fragile X Awareness Month. Tell us about your work with individuals and families who have fragile X syndrome (FXS).
Although I’ve worked with many different genetic causes of developmental disabilities from the beginning of my career, the FXS scientific and family communities will always be near and dear to my heart. I’ve interacted with many hundreds of individuals and families to date, and I’ve learned a great deal from them about the challenges and joys of living with the syndrome and its related disorders. I’ve been witness to many important FXS milestones, from the discovery of the FMR1 trinucleotide repeat mechanism in 1991 to richly-detailed descriptions of the behavioral phenotype, recognition of premutation-related disorders, and clinical trials of targeted pharmaceuticals aimed at correcting the underlying brain pathology. For many years, I’ve been privileged to serve in leadership positions at the National Fragile X Foundation (www.fragileX.org
), working closely with families and professional colleagues toward a common goal of serving the FXS community. My ongoing work with fragile X has been a constant backdrop and a highlight of my long career.
What advice/tips would you like to share with genetic counselors and other professionals who work with families who have fragile X?
Unlike most other etiologies of developmental disabilities, the inheritance pattern of fragile X syndrome and associated disorders is far from straightforward. Genetic counselors should not underestimate the complexity and wide-reaching effects of FMR1
expansions – from infertility and ataxia to autism and intellectual disability – when interacting with families. Because of the multigenerational nature of FMR1
repeat expansions, genetic counseling for fragile X-associated disorders can challenge even the most seasoned practitioners.
What advice/tips would you like to share with families?
When counseling families of young children with developmental disabilities, including those with fragile X syndrome, I try to help them put the child’s genetic diagnosis into context with the developmental diagnoses (such as autism, ADHD, etc.) that determine eligibility for school supports and social services. The clinic-based medical world remains separated in many ways from the community-based services world, and it can be very confusing for families to understand how they intersect. My experience on both sides of this divide has convinced me that part of my role as a genetic counselor is to help families connect the dots between a genetic diagnosis and its real-life implications.
What has been the most rewarding aspect of your profession as a genetic counselor?
I feel very fortunate to have spent my entire career in a scientific field that continually evolves. While it can sometimes be challenging to keep up with the rapid pace of new developments, it’s exciting at the same time, and there’s no room for boredom. For my particular specialty, genomic advances over the past decade have linked pediatric developmental and adult psychiatric disorders in ways that no one saw coming. Many past mysteries now make sense, but there’s still so much to learn. This is true for all practice areas in genetic counseling, and it will be a dynamic field to work in for decades to come.
ABGC Spotlight is a monthly series that features Diplomates, health care professionals
and students sharing their unique experiences with genetic counseling.