Table 2.

Cascade testing issues in familial hypercholesterolaemia

Notification of relatives at risk of familial hypercholesterolaemia should generally not be instituted without the consent of the index case.

National and local healthcare service protocols concerning disclosure of medical information without consent should be consulted.

A proactive approach that respects privacy, justice, and autonomy is required.

All material communicated to relatives and the telephone approach should be comprehensible and not cause alarm.

Pre-testing counselling should be offered to at risk family members of an index case prior to phenotypic or genetic testing.

If genetic testing detects a causative mutation, a definitive diagnosis of familial hypercholesterolaemia can be made in the tested individual particularly when the phenotype also suggests familial hypercholesterolaemia (Table 1; Figure 6: clinical diagnosis and mutation diagnosis).

If genetic testing does not detect a causative mutation, the diagnosis of familial hypercholesterolaemia can be excluded, except when the clinical phenotype is highly suggestive of familial hypercholesterolaemia (Figure 6: clinical diagnosis without mutation).

If genetic testing detects a causative mutation but the phenotype does not suggest familial hypercholesterolaemia, then a definitive diagnosis of familial hypercholesterolaemia should not be made; however, the person and family should be monitored every 2–5 years for LDL cholesterol levels (Figure 6: mutation without clinical diagnosis).

Genetic testing may have implications for insurance cover in certain countries.