Publications by authors named "Ahmed Makkawy"

Background: Familial hypercholesterolemia, a prevalent genetic disorder, remains significantly underdiagnosed in the United States. Cascade testing, wherein individuals diagnosed with familial hypercholesterolemia- probands-contact their family members to inform them of their risk for familial hypercholesterolemia, has low uptake in the United States. Digital tools are needed to facilitate communication between familial hypercholesterolemia probands and their family members and to promote sharing of familial hypercholesterolemia-related risk information.

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Article Synopsis
  • Electronic health record (EHR)-based clinical decision support (CDS) tools are being developed to improve awareness and treatment of familial hypercholesterolemia (FH), which significantly increases the risk of coronary heart disease.
  • A collaborative approach was taken involving primary care and specialist physicians through interviews, usability testing, and surveys to create this tool, which was configured as both a best practice alert and an in-basket message in EHR systems.
  • Feedback from physicians indicated high enthusiasm for the CDS's potential to enhance early diagnosis and management of FH, highlighting the importance of usability factors like format and alert urgency in the tool's design and implementation.
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Objective: Familial hypercholesterolemia (FH), a prevalent genomic disorder that increases risk of coronary heart disease, remains significantly underdiagnosed. Clinical decision support (CDS) tools have the potential to increase FH detection. We describe our experience in the development and implementation of a genomic CDS for FH at a large academic medical center.

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