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Assistant Professor, Genomic Health, Geisinger
Co-director, Geisinger MyCode Genomic Screening and Counseling Program

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Currently, identification of individuals with genomic risk remains largely dependent on clinical testing that relies on a personal/family history of disease and, access to specialty care. However, some patients with suggestive history do not come to clinical attention. Also, testing criteria are not adequately sensitive to identify all at-risk patients. Genomic screening offers a strategy to close the gap and identify more at-risk patients thus enabling increased surveillance, primary prevention, and early diagnoses.

Geisinger has over 10 years of experience screening and disclosing actionable genomic findings to biobank participants and has expanded genomic screening into clinical care through a primary care pilot. This presentation will summarize these experiences to date including the rate of pathogenic/likely pathogenic results, clinical care and outcomes following results disclosure, and patient and clinician perspectives.