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

Presented through Fierce Pharma

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As targeted treatments for rare diseases rapidly emerge, genetic diagnosis plays a crucial role in enabling access to clinical trials and precision therapies with the ultimate benefit of enhancing patient outcomes.

In this panel discussion, rare disease experts discuss the significant challenges with achieving a timely and accurate rare disease diagnosis and strategies to engage both patients and providers to expand understanding of and access to therapies that benefit patients.

Speakers address key topics including:

  1. Methods to improve access to genetic diagnostics
  2. Increasing provider comfort with genetic diagnoses and genetic testing to identify eligible patients
  3. Strategies to boost patient awareness of clinical trials and therapies for their conditions

Join us as we explore strategic approaches employed by industry leaders, who are bridging the diagnostic gap to improve patient outcomes and accelerate the development of precision therapies.

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Heather McLaughlin, PhD, FACMG, NYCoQ, CGMB

Director of Molecular Diagnostics

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 Haroldson, PharmD

Executive Director, Head of Medical Affairs, North America

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.

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Michelle Hearn, CGC

Clinical Science Liaison
Genome Medical

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 Keywan, MS, LCGC

Clinical Science Liaison
Genome Medical

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.