Geisinger Demonstrates Importance of Increasing Uptake of Precision Medicine-Based Screening Approaches

With a grant from NHLBI, investigators will test precision medicine-based screening approaches that allow individuals with familial hypercholesterolemia to share critical information with their at-risk relatives

Geisinger Health continues to demonstrate its leadership in filling screening gaps using precision medicine-based approaches. Hospital and health system leaders are keenly aware that genetic testing for familial hypercholesterolemia (FH) is underutilized, due mainly to implementation challenges, especially patient and provider preferences and concerns.

Geisinger recently announced that the National Heart, Lung, and Blood Institute (NHLBI) awarded its researchers with a $2.8 million grant to study FH screening approaches. The grant comes on the heels of a National Institutes of Health (NIH) grant awarded to Geisinger earlier to explore genomics-based detection of arrhythmogenic right ventricular cardiomyopathy.  

Both efforts are part of Geisinger's MyCode Community Health Initiative, a huge biobank of whole-exome sequence data that includes more than 250,000 enrollees, 1,500 of whom have received clinically actionable results, according to Geisinger. FH is one of 30 conditions screened for in MyCode.

Amy Sturm, MS (above), explained for the Precision Medicine Institute what will be studied at Geisinger Health as part of the MyCode Community Health Initiative targeting familial hypercholesterolemia (FH). Sturm is Co-director of Geisinger's Genomic Screening and Counseling Program. (Photo copyright: Geisinger Genomic Medicine Institute.)

What Geisinger's FH MyCode Research Seeks to Determine

According to Dimensions, a database that tracks grants, published studies, and clinical trials, FH is plagued by under-identification of index patients, as well as low uptake of cascade testing.

Geisinger's FH research seeks to determine:

  • Innovative index patient identification methods that make use of electronic health records data and genomic analysis of next-generation sequencing data;
  • Effective use of patient-centered communication efforts to encourage cascade testing uptake; and
  • Best practices for FH identification and cascade testing, considering feasibility, acceptability, and cost.

"This study will focus on not only identifying FH, but also the development and design of innovative tools and programs to help individuals with FH encourage their at-risk family members to be screened for the disorder," noted Amy Sturm, MS, Professor at Geisinger's Genomic Medicine Institute and Co-director of the MyCode Genomic Screening and Counseling Program. Sturm is also one of the study's principal investigators. Katherine Wilemon, Founder and Chief Executive Officer at the FH Foundation which will collaborate with Geisinger on the study, emphasized the importance of motivating family members to undergo family screening.

The two-pronged aim of the study (identifying disease, as well as determining best strategies to increase uptake) is a reminder that clinical results are only part of a successful precision medicine initiative. For what good are positive findings if they do not impact a critical mass of individuals who stand to benefit? That's why it's equally important for hospitals and health systems to determine best communication strategies with individuals in the communities they serve. 

The Precision Medicine Institute asked Sturm to elaborate on the communication strategies to be studied. "We will be testing multiple interventions to hopefully improve family communication and uptake of cascade testing," she explained. 

"Specifically, we will be [comparing] a 'dear family member' letter, which is considered usual care, to an innovative chatbot tool that individuals with FH can share electronically with their at-risk relatives via text, email, and Facebook Messenger. We will also be developing and testing a clinical direct contact program where individuals with FH will provide us permission to contact their relatives directly to explain [the disorder] and the steps needed to determine their own personal risk."

-Dean Celia

Related Information:

Understanding Implementation Challenges to Genetic Testing for Familial Hypercholesterolemia in the United States

Geisinger researchers receive $2.8 million to study familial hypercholesterolemia screening approaches

National Institutes of Health awards Geisinger over $3.1 million for research of sudden cardiac death

MyCode Community Health Initiative


Identification Methods, Patient Activation, and Cascade Testing for FH: IMPACT-FH