Table 2.
Study | Initial Contact Method | Relatives Tested | Site for Obtaining Sample | New Case Ascertainment | Yield, % | NCIC |
---|---|---|---|---|---|---|
Bhatnagar et al14 | Direct | FDR | SAC or PCP | SBR criteria | 60.50 | 0.47 |
Umans-Eckenhausen et al16 | Direct | FDR, SDR, TDR | Nurse home visit | Diagnostic protocol followed by GT | 37 | 8 |
Vergotine et al19 | Unclear | FDR (close relatives) | Unclear | GT | 42 | 0.89 |
Marks et al15 | Indirect (response rate 35%) | FDR | Home visit or SAC | SBR criteria | 30 | 0.22 |
Hadfield et al13 | Direct and indirect | FDR | SAC or PCP | SBR criteria | 30 | 0.7 |
Muir et al24 | Direct (letter, laboratory form, consent) | FDR | Local laboratory | GT | 45 | 2.09 |
Bell et al17 | Indirect | FDR, SDR, TDR | SAC | GT | 51.40 | 2 |
Jannes et al20 | Direct | FDR* | SAC | GT | 59.40 | 0.94 |
Latkovskis et al18 | Indirect | FDR | SAC | DLCN score | 60.30 | 0.29 |
Alver et al23 | Indirect | FDR, SDR | SAC | GT | 31 | 0.95 |
DLCN indicates Dutch Lipid Clinic Network; FDR, first-degree relative; FH, familial hypercholesterolemia; GT, genetic testing; NCIC, new cases per index case; PCP, primary care provider; SAC, study-associated clinic; SBR, Simon-Broom Registry; SDR, second-degree relative; and TDR, third-degree relative.
Cascade testing extended to SDRs of the proband upon detection of FH in FDRs.