Table 3 Aim 1 study outcomes

Implementation outcome

Primary

Penn Medicine, Family Heart Foundation

Reach

The proportion of eligible probands (i.e., Penn Medicine patients diagnosed with familial hypercholesterolemia or “FH”) who have at least one relative who is screened for FH within 6 months of the proband’s randomization date. We define ‘completed screening’ in the Penn Medicine and Family Heart Foundation study arms as relatives sharing lipid panel results and completing a results consultation call with a study clinician. This information is documented by the study clinician during the call in REDCap

Secondary

Penn Medicine, Family Heart Foundation, Usual care

Comparison of reach to usual care

To compare reach in the active study arms (i.e., Penn Medicine and Family Heart Foundation) to that in the usual care arm, we will use a secondary measure of reach: the proportion of eligible probands who self-report their relatives’ completion of screening for FH, as reported on the Part 2 Survey that follows the 6-Month Follow-Up Survey

Secondary

Penn Medicine, Family Heart Foundation

Engagement

The proportion of probands who respond to at least one outreach attempt at any point after positive identity confirmation, as identified via Way to Health (W2H) reports and Family Heart Foundation care navigator contact logs

Secondary

Penn Medicine, Family Heart Foundation

Number of relatives screened

The number of relatives who both: (a) share lipid panel results and (b) complete a telephone consultation with a study clinician. We will use the same methods as those used for our primary outcome of reach to collect both (a) and (b)

Penn Medicine, Family Heart Foundation

Number of relatives meeting criteria for FH

The number of relatives who meet American Heart Association clinical criteria for FH, defined as adults with untreated low-density lipoprotein cholesterol (LDL-C) of ≥ 190 mg/dL or children with untreated LDL-C of ≥ 160 mg/dL [27], within 6 months of proband randomization, as assessed by the study clinician conducting the results consultation call with the relative

Clinical effectiveness outcome

Secondary

Penn Medicine, Family Heart Foundation

Proband LDL-C

Proband LDL-C on a lipid panel completed between 11 and 13 months after proband randomization

Exploratory

Penn Medicine, Family Heart Foundation

Change in proband LDL-C

Change in proband LDL-C from baseline to the lipid panel conducted between 11 and 13 months after proband randomization. Baseline LDL-C will be collected from a lipid panel conducted anytime in the 5 years preceding proband randomization. If there are multiple lipid panels available, we will use the most recent. While we will collect lipid panel results from up to 5 years preceding the proband’s randomization date (i.e., 5 years is the upper bound), we will reevaluate this cutoff point for ‘baseline’ LDL-C data once all data have been collected but analysis has not begun, and will define a cutoff point based on what point will give us the most complete data but is still reflective of a true ‘baseline’ at the time of proband randomization (i.e., balancing recency of results with the completeness of the baseline data)