Publications by authors named "Emma Folkerts"
Purpose: Given limited ambulatory access to genetics specialists, innovative service delivery solutions are needed. Electronic consultation (e-consult) programs are growing to connect clinicians to specialists. We explored the utilization and outcomes of a genetics and genomics e-consult program at Massachusetts General Hospital system in its first year.
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- - Innovative service delivery models, like electronic consultations (e-Consults), are essential to improve access to genetics specialists for clinicians.
- - Massachusetts General Hospital implemented an e-Consult service, which handled 153 requests in its first year, completing most within an average of 3.2 days.
- - The service was primarily used by generalist providers, and 82% of clinicians who received actionable recommendations followed through, highlighting the potential of e-Consult models in genetics care access.
Background: State-of-the-art genetic risk interpretation for a common complex disease such as coronary artery disease (CAD) requires assessment for both monogenic variants-such as those related to familial hypercholesterolemia-as well as the cumulative impact of many common variants, as quantified by a polygenic score.
Objectives: The objective of the study was to describe a combined monogenic and polygenic CAD risk assessment program and examine its impact on patient understanding and changes to clinical management.
Methods: Study participants attended an initial visit in a preventive genomics clinic and a disclosure visit to discuss results and recommendations, primarily via telemedicine.