Show notes
In this episode we discuss the recent National Society of Genetic Counselor’s Practice Resource on Dystrophinopathies, which was recently published in JoGC, with two of the publications’ authors. You can find the Journal of Genetic Counseling webpage via onlinelibrary.wiley.com or via the National Society of Genetic Counselors website.
Segment 1: “Genetic counseling for the dystrophinopathies- Practice resource of the National Society of Genetic Counselors”
Ann Martin, MS, CGC is a board certified genetic counselor with Parent Project Muscular Dystrophy (PPMD). Ann serves as the VP of Community Research and Genetic Services and manages a team of genetic counselors who coordinate all aspects of The Duchenne Registry and the Decode Duchenne genetic testing program. Since joining PPMD in 2011, Ann has been directly involved in all aspects of the Registry programs including collection and curation of the Registry data, clinical trial and research study recruitment, data exports, patient and family inquiries, genetic testing, and educational content on the PPMD websites. Ann represents The Duchenne Registry on TREAT-NMD’s Global Data Oversight Committee, which is responsible for reviewing requests for data from the TREAT-NMD Global Registries, and serves as the DMD Subgroup Co-Lead. In addition, Ann has been a member of Sarepta Therapeutics’ Advisory Board for Early Diagnosis of Duchenne since 2022. Ann is continually engaging and educating both the patient and professional community about the Registry and Duchenne and Becker research. Before joining PPMD, Ann worked as a clinical genetic counselor for 15 years at Carolinas Medical Center in Charlotte, NC, where she provided genetic counseling for pediatric and adult patients with a wide range of genetic disorders. Ann is a graduate of the University of Cincinnati Genetic Counseling Graduate Program. She is board-certified by the American Board of Genetic Counseling and is a member of the National Society of Genetic Counselors.
Angela Pickart (she/her) is a licensed, certified genetic counselor practicing in the Genomics Laboratory at Mayo Clinic, performing variant interpretation, report writing and test development for neurogenetics assays. She received her Master of Science degree in Genetic Counseling at the University of Minnesota and has extensive clinical experience in pediatric, neurology, and oncology genetic counseling prior to transitioning to her laboratory role. She has been awarded the academic rank of Assistant Professor of Laboratory Medicine at the Mayo Clinic College of Medicine and Science where she serves as course co-director of the Center for Clinical and Translational Sciences Molecular Variant Evaluation Course. She is also the course co-director of the Laboratory Practicum for the Medical College of Wisconsin Master of Science Genetic Counseling Graduate Program and Adjunct Assistant Professor of the Medical College of Wisconsin School of Graduate Studies.
In this segment we discuss:
- Origins and significance of the genetic counseling-specific practice resource for dystrophinopathies.
- Changes in the treatment landscape due to FDA-approved therapeutics and ongoing clinical trials for dystrophinopathies.
- Strategies for educating patients and families about the implications of genetic testing and diagnosis in dystrophinopathies.
- Advocacy roles of genetic counselors in helping patients access the latest therapies and participate in clinical trials for DMD/BMD.
- Importance of interdisciplinary collaboration in managing dystrophinopathies and the roles genetic counselors play within these teams.
- Potential broader impact of the practice resource on the medical field and patient community.
Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors.
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