The role of genetic counselors in the mystery, hope, and heartbreak of neurogenetics

Genetic counseling. This month, we celebrated DNA day, a successful fundraiser through Love for Liam, and the acceptance of our genetic counseling assistant (GCA), Rahma Ali, into the Emory University Genetic Counseling Training Program. On top of that, the Center for Epilepsy and Neurodevelopmental Disorders (ENDD) opens soon and we’ve been actively recruiting new GCAs and interviewing new genetic counselors (GCs). All of this has reminded our team of the vital function of our GCs both on our research and clinical teams. And, it has reminded our GC team of why we pursued this field and why we love neurogenetics in particular. As our lab expands, we are dedicating more blog posts to highlighting different team members and roles, and this week, we celebrate GCs as they share the greatest, hardest, and most exciting parts of being a GC, especially in neurology.

Figure 1. The genetic counseling team in the Epilepsy NeuroGenetics Initiative (ENGIN) program, with our soon-to-be genetic counselor Rahma who is heading off to the Emory University Genetic Counseling Training Program this August. All of our genetic counselors see patients in our ENGIN clinic, and most have a research split. Sarah, Laina, and Stacey are currently members of the Helbig lab, with more of the team joining soon!

Complexity. A common theme among the GCs was the appreciation for the complexity of genetics and neurology, and the exciting mysteries and possibilities of the combination of the two. To Stacey Cohen, the nuance and complexity that drew her to genetics is exactly what she loves about neurology, too. Rahma similarly wrote, “Neurogenetics is exciting as it deals with the most complex organ in the human body coupled with genetics, which creates a sense of adventure and uncharted territory to be still be discovered”. To me, each genome, each brain, each patient, and each family is unique and full of nuance, and as neuro GCs, we get to unravel their myriad mysteries in our search for answers. Amanda Back, one of our newest GCs, writes, “One of my favorite aspects of being a genetic counselor is getting to consider, and re-consider, the multidimensional nature of genetics on a daily basis.  Clinically we often think of DNA as being a part of us that will not change throughout the course of our lives.  However, this static nature does not necessarily correlate with simplicity in analysis.  At any given point of a genetic counselor’s day we may be thinking about DNA at various levels—individuals genes, phenotypes, inheritance, genetic architecture, individual genomic data, and population genomics.”

Unique skillset. Another theme was the unique combination of genetics expertise and psychosocial counseling skills that allows GCs to not only understand genetic conditions, but to help families understand as well, and help guide them through the often-difficult journey of searching for and receiving a diagnosis. Many providers do not have the training and tools to understand complex genetic testing results and the thousands of rare disorders that can be detected. Furthermore, those that do have this training often lack the time or psychosocial skills to review the many facets of a complex genetic diagnosis with a family, while also remaining present with the family as they process their grief and come to terms with a life-changing diagnosis. GCs can fill this gap. As Rahma writes, “The best part of being a genetic counselor is striving to connect with patients on a deeper level by guiding them through their emotions, working through comprehension of the material, and accompanying them on their journey of understanding and acceptance. This combination of clinical genetics and psychosocial counseling is what makes genetic counseling such a unique and rewarding profession.”

Bad news. The hardest part for most neuro GCs is having to give difficult or disappointing results. As we walk alongside our patients on their diagnostic odyssey, we feel their pain, anxiety, and frustration. Stacey writes, “It is hard to work with a family along this journey and come up with no answers for them, or to find a genetic diagnosis with poor prognosis with limited or no treatment. I still provide support, but truly I just want to be able to make things better for them.” Rahma writes, “The hardest part of genetic counseling is delivering bad news to patients. This profession comes with that burden unfortunately. Although it is done often and becomes second nature to deliver terrible news it does not make it any easier. Being the face that they remember giving them such news is disheartening but I can rest assured that the news was delivered with proper information, guidance, and support to console the family.” Personally, I had a patient’s mother reach out to me recently, about a year and a half after her child passed away from a genetic developmental and epileptic encephalopathy. After talking briefly on the phone to coordinate sending results, she noted in an email how nice it was to hear my voice again, and remarked on how appreciative she was of the entire CHOP team for the amazing support during the worst period of her life. To me, that’s why I am a GC, and how I cope with the sometimes-devastating diagnoses we see – to know that for families receiving the worst news they will ever receive, I am there to make sure results are delivered accurately and compassionately, and to hopefully make to most heartbreaking period of their lives just a little bit easier.

The future. In neurology, one of the most exciting things for me is how far we’ve come in our ability to find a genetic diagnosis even in just the past decade, and the hope of new gene-specific treatments and gene therapies in the future. Stacey writes, “Being able to give a diagnosis for an otherwise unexplained condition is a powerful advancement in recent years, with the explosion of gene discovery and genotypic/phenotypic characterization of neurogenetic conditions. I’m most looking forward to all of the ongoing and future work involved in developing gene-specific treatments.” In terms of the genetic counseling field as a whole, I am excited for us to expand in the types of patients we can help and the types of people that join our field. Rahma astutely writes, “I know there is a dire need for diversity when, on average, persons of color are significantly less likely to be offered genetic testing or diagnosed with genetic conditions due to a lack of resources, accessibility, referrals, and diverse genetic information available. Although I’ve dedicated my journey to making impactful changes in this field, I know this is only the first step. I strive to offer service to underrepresented communities so that one day the gap can be bridged in the genetic counseling field and services can be provided to all people.”

In a nutshell. GCs are specialized healthcare providers, delivering genetics expertise with compassion and understanding. While delivering devastating diagnoses is always difficult, it is a great privilege to be able to do so in a way that makes that honors families and makes their journeys a little easier. We look forward to the future where we can have a larger and more representative work force, impact a wider and more diverse array of patients, and offer more diagnoses and treatments to the families we care for.

Laina is a licensed certified genetic counselor at the Children’s Hospital of Philadelphia.