Rare Genetics, Real Solutions: Connecting Patients with Clinical Trials

Presented through Fierce Biotech

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With 80% of rare diseases having a genetic basis, it is critical for life sciences organizations to effectively identify and recruit participants whose molecular diagnoses match study criteria for new targeted gene therapies. However, with increasingly complex inclusion/exclusion requirements this can be a real challenge.

Join us for this deep dive into how incorporating comprehensive genetic services can increase access and identification of patients who meet study-specific requirements. Discover key insights for helping more patients benefit from life-changing therapeutics.

We’ll explore:

  1. Real examples of strategies that are helping to accelerate rare disease clinical trials
  2. How incorporating genetic counseling into testing programs improves patient access to genetic diagnoses
  3. Ways to boost patient and provider awareness of clinical trials and therapies
  4. Tips for identifying eligible patients more effectively for clinical trials
  5. And more
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Amy Shea

Director, Diagnostics & Strategic Initiatives
Ionis Pharmaceuticals

Amy has over 20 years of experience in diagnostics & genetics. Her passion for genetics started at UC Davis where she earned her Bachelor of Science in Genetics and expanded in her knowledge at diagnostic laboratories including Sequenom (now LabCorp), PerkinElmer (now Revvity), Emory Genetics & Gene Therapy at Weill Cornell Medical College. From there she transitioned into the genetic rare disease space where she focuses more on patients. In her current role at Ionis Pharmaceuticals/Akcea Therapeutics she has oversight of sponsored genetic testing and genetic counseling programs. Her team applies the science of clinical genetics to support strategic drug development and the adoption of IONIS precision medicines.

Colleen Caleshu, MS, CGC

Senior Director, Research & RWD
Genome Medical

Colleen is clinician-scientist genetic counselor and an internationally recognized leader in cardiovascular genetics. Colleen prioritizes research questions that help move the care of patients with genetic conditions forward. Her research has covered use of digital tools in genomic medicine, mindfulness meditation for genetic counselors, psychotherapeutic aspects of genetic counseling, interpretation of genetic and genomic tests in cardiology, and integration of genetic counselors into cardiology. Colleen has advised multiple genetics and pharmaceutical companies on their strategy in the cardiovascular, genetic counseling, and genetic testing spaces.

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Sara Riordan, MS, CGC

Vice President, Strategy
Genome Medical

Sara leads Genome Medical’s strategy to apply real world data and genetics expertise to accelerate patient accrual for clinical trials and post-commercial therapies. Prior to joining Genome Medical, she led clinical and research programs at biotech and precision diagnostics organizations such as Thermo Fisher Scientific, Life Technologies, Oncocyte and Unified Patient Network. Sara has also led many early-stage companies in developing and commercializing genomic services and applications. In addition, in 2021, she served as the President of the National Society of Genetic Counselors.