#8 Neurogenetics: Predictive Testing for ALS and Dynamic Coping in Pediatric Ataxia-Telangiectasia

DNA Dialogues: Conversations in Genetic Counseling Research

In this episode we discuss research on patient and family experiences in neurogenetics. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website.

Segment 1: “Individuals' experiences in genetic counseling and predictive testing for familial amyotrophic lateral sclerosis”

Connolly Steigerwald is a certified genetic counselor at NYU Langone Health’s Division of Neurogenetics and Lysosomal Storage Disorders Program in NYC, where she assists in providing evaluations and genetic counseling for those with suspected or confirmed neurogenetic disorders. Her clinic population includes those with neurodevelopmental disabilities, epilepsies, neuromuscular disorders, dementias, white matter disorders, movement disorders, and lysosomal storage disorders. Connolly holds a Master of Science in Genetic Counseling from Columbia University, where she completed a specialty rotation in neurology with a focus on neurodegenerative and neuromuscular disorders such as amyotrophic lateral sclerosis. Her research interests include predictive genetic testing, lysosomal storage disorders, and implementation of genetic counselor led clinic models.

Elizabeth Harrington, MS, CGC, is an ABGC board-certified genetic counselor and Lecturer in the department of Neurology at Columbia University. Ms. Harrington received her graduate degree in human genetics and genetic counseling from the Stanford University School of Medicine. Ms. Harrington provides genetic counseling expertise in neuromuscular, neurodegenerative, and motor neuron diseases, and specifically provides clinical genetic counseling to patients and families with ALS. In addition to her clinical and academic responsibilities, Ms. Harrington directs the ALS Families Project research study, a presymptomatic natural history study designed to understand the genetic underpinnings of genetic forms of ALS and the impact on affected families.

Link to the ALS Families Project: https://clinicaltrials.gov/study/NCT03865420

In this segment we discuss:

- How the experiences and decision-making processes for ALS risk compare to other neurodegenerative disorders, such as Huntington disease (HD).

- What influences individuals at risk for familial ALS/FTD to choose predictive genetic testing, including factors like religious affiliation.

- The psychological impact of testing positive for ALS-associated mutations is compared to those who test negative or opt out of testing, revealing significant emotional differences.

- Social support networks, whether from family, friends, or healthcare professionals, are critical for those processing genetic test results or managing their risk for ALS/FTD.

- The importance of integrating psychological care into the predictive genetic testing process to support individuals facing the risk of neurodegenerative diseases.

Segment 2: “How parents of children with ataxia-telangiectasia use dynamic coping to navigate cyclical uncertainty”

Victoria Suslovitch (Tori) is a genetic counselor and works as a genomic science liaison for the rare disease team at Ambry Genetics. She educates healthcare providers about genetic testing and genomic medicine, and aims to advance access, equity, and quality of genetics services. Prior, Victoria was a research genetic counselor at Boston Children's Hospital, for a study that develops genomically targeted therapies for children with rare neurological diseases. In this role, she worked closely with families of patients with ataxia telangiectasia. She received her Master of Science in Genetic Counseling degree from Boston University, and is certified by the American Board of Genetic Counseling.

Julia Schiller works as a cancer genetic counselor at AdventHealth in Parker, CO. She attended Drake University for her undergraduate degree, and Boston University School of Medicine for her genetic counseling degree and is certified by the American Board of Genetic Counseling. Originally from Minnesota, she now enjoys all the outdoor adventures Colorado has to offer with her partner, Adam, and their dog, Sprocket. Her passionate for health equity and preventative care drive her to create a space for patients where they feel empowered in their own healthcare.

Link to the Ataxia Telangiectasia Children’s Project (ATCP): https://atcp.org

In this segment we discuss:

- Ataxia-Telangiectasia (A-T) - a pediatric movement disorder characterized by ataxia, immune deficiencies, and a higher risk of cancer, with symptoms often starting in early childhood.

- The similarities and differences in parental experiences as well as emotional and clinical challenges faced by families

- The five key themes that emerged: changes in parental responsibilities, shifts in family identity, evolving coping strategies, continuous uncertainty, and the importance of support from various sources.

- A-T’s progressive nature meant that coping and identity changes were ongoing, with parents turning to connections with family, medical teams, and other A-T families.

- Parents described emotional, logistical, and financial challenges associated with the diagnosis, highlighting the need for supportive and understanding healthcare providers.

Stay tuned for the next new episode of DNA Dialogues! In the meantime, listen to all our episodes Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Dialogues”.

For more information about this episode visit dnadialogues.podbean.com, where you can also stream all episodes of the show. Check out the Journal of Genetic Counseling here for articles featured in this episode and others.

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