Article Title

An Innovative Patient-Centered, Multidisciplinary Approach for the Delivery of Genomic Sequencing Results and Pharmacist-Led Lipid Management to Patients With Familial Hypercholesterolemia

Publication Date



familial hypercholesterolemia, patient-centered care


Background/Aims: Recent advances in genomic sequencing have provided new opportunities to identify individuals with familial hypercholesterolemia. The accessibility and usage of sequencing data for diagnosis and treatment of disease states has been scarce in medical practice but promises to be more widely available in the near future. Models for how to deliver genomic results to unsuspecting patients and provide postreturn care are needed. Our aim is to describe the first-of-its-kind multidisciplinary patient-centered model to deliver and provide care for patients with familial hypercholesterolemia identified through the MyCode® Community Health Initiative.

Methods: At Geisinger the return of genomic sequencing results has been made possible through MyCode. The initiative began in 2006, and so far more than 50,000 patients have had exome sequencing completed. Over the next few years Geisinger aims to return results for certain actionable genetic conditions. An early-targeted population is those with familial hypercholesterolemia identified by analyzing exome sequence data obtained from MyCode participants. A review of current literature and internal care processes at Geisinger was conducted to determine the most appropriate delivery of care.

Results: Based on review of current literature and Geisinger care processes, there was substantial evidence to support a patient-centered multidisciplinary care team approach. Geisinger has previously seen excellent results in collaborative hyperlipidemia clinics. Our proposed multidisciplinary team will be comprised of two groups: 1) a core team (provider, pharmacist, dietician), and 2) an auxiliary team (cardiologist, primary care physician, obstetrician/gynecologist, genetic counselor). An initial visit will include a discussion of genetic results with patients, cascade testing of family members, baseline assessment, determination of patient-specific treatment goals and referral to cardiology if necessary. Subsequent visits will be led by clinical pharmacists and focus on maximizing familial hypercholesterolemia therapy, targeting treatment goals and responding to patient concerns. Initial qualitative feedback will be collected from team members and patients.

Conclusion: The development of this novel multidisciplinary team will allow us to provide patients with vital information about their health in a supportive environment. Future analysis will include a comparison of pharmacist-led team management to management provided by usual care on clinical, social and economic outcomes.




June 29th, 2016


August 12th, 2016