Bridging the Genetic Diagnosis Gap: Strategies for Expanding Access to Rare Disease Therapies

Dr. Heather McLaughlin is a board-certified clinical molecular geneticist by the ABMGG and currently serves as the Senior Director of Molecular Diagnostics at Pharming Healthcare. Dr. McLaughlin received a B.S. in Diagnostic Molecular Science from Michigan State University, a M.S. and Ph.D. in Human Genetics from The University of Michigan, and completed a Clinical Molecular Genetics fellowship at Harvard Medical School. Heather’s professional interests include expanding access to genetic testing, multi-modal resolution of VUSs, and utilizing genetic knowledge to inform therapeutic commercialization.

Jeff has a Doctor of Pharmacy from the University of Minnesota College of Pharmacy and over 20 years of experience in pharma and biotech companies in medical affairs and market access roles, with the majority in rare disease and gene therapies. As the Executive Director of Medical Affairs at Tenaya Therapeutics he is leading initiatives for gene therapy programs for MYBPC3+ hypertrophic cardiomyopathy and PKP2+ arrhythmogenic right ventricular cardiomyopathy. Recognizing that many individuals with inherited cardiomyopathies often lack a genetic diagnosis, Jeff and his team have helped initiate a sponsored genetic testing and counseling program for individuals and families with HCM and ARVC.

Michelle is a board-certified genetic counselor with over 17 years of experience providing direct patient care in clinic-based and telehealth settings across multiple specialities including reproductive, cancer, and general genetics. She also worked extensively with genetic counseling masters degree programs to provide clinical supervision, including as a clinical instructor (affiliated) in the Division of Genetics at Stanford University School of Medicine. Michelle is currently a Clinical Science Liaison at Genome Medical where she works to optimize provision of genetic counseling services through evidence based recommendations, thought leadership and scalable solutions in partnership with health systems, laboratories, advocacy groups and biopharmaceutical companies.

Chrissy provides clinical expertise to build genetics programs that meet the needs of patients as well as health system, lab and biopharma partners. Chrissy has extensive clinical research experience, previously managing a translational clinical genetics research program at Boston Children's Hospital. Her experience also includes genetic counseling for pediatric, cardiovascular, neurologic and rare disease indications.