KCNQ1 Cascade Screening

The objectives of the protocol are to: (1) evaluate the uptake of cascade screening and
preventative therapies before and after the implementation of a simplified screening process
and (2) assess proband and family member perspectives about the return of research results
and cascade screening for the KCNQ1 Thr224Met variant. The investigators will conduct a mixed
methods study in the Old Order Amish community where the KCNQ1 variant is enriched over
100,000-fold compared to other populations. The intervention will offer free, mail-in,
saliva-based genetic testing for family members of probands. The rate of uptake of testing
and preventative therapy will be compared before (i.e. when 'traditional' $50 blood-based
testing was available to family members) and after the intervention is implemented (i.e. when
'simplified' free, mail-in, saliva-based testing was available). The primary outcome is the
rate of uptake of cascade screening before ('traditional') versus after ('simplified') the
intervention. The secondary outcomes include: extent of disclosure of genotype results before
and after the intervention, proportion of informed relatives who get screened before and
after the intervention, and the uptake of appropriate preventative care (e.g. seeing a
cardiologist and/or taking beta-blocker). The tertiary outcomes are demographic
characteristics associated with uptake of cascade screening or uptake of preventative
therapy. The investigators will also assess qualitative themes surrounding the return of
results process and cascade screening using interviews.