Table 21:
Volume of Genetic Cascade Screening for Relatives of Genetically Confirmed FH Cases
| Year 1 | Year 2 | Year 3 | Year 4 | Year 5 | |
|---|---|---|---|---|---|
| Number of index cases | 1,083 | 1,491 | 1,970 | 2,522 | 3,248 |
| Number of relatives receiving cascade screening per index case | 5 | 5 | 5 | 5 | 5 |
| Current scenario | |||||
| Uptake of genetic cascade screening (%) | 0 | 0 | 0 | 0 | 0 |
| • Sequential testing | 0 | 0 | 0 | 0 | 0 |
| • Genetic testing only | 0 | 0 | 0 | 0 | 0 |
| No genetic cascade screening | 100% | 100% | 100% | 100% | 100% |
| • Lipid testing only | 2,706 | 3,727 | 4,925 | 6,304 | 7,870 |
| • No testing | 2,706 | 3,727 | 4,925 | 6,304 | 7,870 |
| New scenario | |||||
| Uptake of genetic cascade screening (%) | 60% | 70% | 80% | 90% | 100% |
| • Number receiving sequential testing | 1,624 | 2,609 | 3,940 | 5,674 | 7,870 |
| • Number receiving genetic testing only | 1,624 | 2,609 | 3,940 | 5,674 | 7,870 |
| No genetic cascade screening (%) | 40% | 30% | 20% | 10% | 0% |
| • Lipid testing only | 1,083 | 1,118 | 985 | 630 | 0 |
| • No testing | 1,083 | 1,118 | 985 | 630 | 0 |
Abbreviation: FH, familial hypercholesterolemia.
Note: Sequential testing: sequential algorithm, lipid testing followed by genetic testing for those with elevated LDL-C levels; Genetic testing: for eligible relatives regardless of lipid testing results.