
Limited information is available regarding clinician and participant behaviours after disclosure of genomic risk variants for familial hypercholesterolemia (FH) from a population genomic screening program. Most (90%) had a hypercholesterolemia diagnosis but no specific FH diagnosis before the disclosure; 29% had an FH diagnosis post-disclosure. After exposure, clinicians made 36 prescription changes in 38% of participants, mostly in participants who did not achieve pre-disclosure LDL goals (81%). Despite disclosing an FH risk variant, non-prescribing and nonadherence to lipid-lowering therapy remained high. However, lipid levels decreased when clinicians intensified medication regimens and participants adhered to medications.
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