Mayo Clinic
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).
1. Index Patient Genetic Testing (only index patients from the REP database): * Index patients identified through the REP database will undergo confirmatory FH testing HCHLG panel * A sputum collection kit is mailed to participants along with a pre-addressed return mailer. * Results are recorded in the electronic medical record and communicated to index (REP) participants with next-step instructions. * Only index patients with confirmed pathogenic/likely pathogenic variants proceed in the study. 2. Relative Genetic Testing: * Relatives in the intervention arm who contact the s…
Inclusion Criteria: Index Patients: * 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. * At least one eligible first- or second-degree relative. * Access to and active use of email (computer literacy requirement). Relatives: * First- or second-degree relative of an enrolled index patient. * Age ≥ 1 year (minors require parental consent + assent). * Willing to participate and able to complete electronic consent (guardian-assisted if m…
Patient 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.
No 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.
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