The purpose of this study is to evaluate the effectiveness of two models of cascade testing in identifying at-risk family members of individuals diagnosed with familial hypercholesterolemia (FH).
Age ≥ 18 years.
Confirmed FH diagnosis using Dutch Lipid Clinic Network criteria *or* genetic confirmation.
Identified through REP or Tapestry databases.
Able and willing to provide informed consent.
No confirmed FH diagnosis.
Insufficient clinical follow-up (<5 years).
No identifiable or contactable relatives.
Prior participation in structured cascade testing.
Parallel
Cascade testing
Other interventionPatient relatives will be contacted either directly or indirectly per patient preference: The indirect contact method provides patients with structured Mayo approved educational materials to support the index patient in accurate and consistent communication with relatives. Relatives have the option to contact the study team for cascade genetic testing. The direct contact method provides patients with a letter inviting relatives to contact the study team. After contact, relatives are offered educational materials and the opportunity for cascade genetic testing.
Standard of Care
Other interventionNo structured outreach is provided to patient or family members. Relatives may have their primary care provider refer them to genetic counseling services for cascade testing coordination.
Genetic testing among first- and second-degree relatives within 12 months of index patient enrollment
Defined as total number of relations to complete CLIA-certified FH test (LDLR, APOB, PCSK9, LDLRAP1) with result returned to the primary care research team.
Number of newly diagnosed FH cases among relatives
Total number of patient relatives newly diagnosed with familial hypercholesterolemia (FH)
Time from index patient enrollment (Tapestry identified participants) and diagnosis (REP identified and FH genetic test confirmation) to relative testing
Number of days between patient enrollment and testing of relatives
Time from relative diagnosis to treatment initiation
Number of days between diagnosis and start of treatment
Communication modality preference
letter sent by the index patient to their relatives with contact information for the primary care study team. the indirect pathway are provided with structured Mayo approved educational materials to support the index patient in accurate and consistent communication with relatives.
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