Quality statement 3: DNA testing

Quality statement

People with a clinical diagnosis of familial hypercholesterolaemia (FH) are offered DNA testing as part of a specialist assessment.

Rationale

DNA testing is important because it increases the certainty of a diagnosis of FH and allows the identification of affected and unaffected relatives through cascade testing.

Quality measures

Structure

Evidence of local arrangements to ensure that people with a clinical diagnosis of FH are offered DNA testing as part of a specialist assessment.

Data source: Local data collection.

Process

a) Proportion of people with a clinical diagnosis of FH who receive DNA testing as part of a specialist assessment.

Numerator – The number of people in the denominator receiving DNA testing as part of a specialist assessment.

Denominator – The number of people with a clinical diagnosis of FH.

Data source: Local data collection using a dedicated database.

b) Proportion of people with a clinical diagnosis of FH receiving DNA testing as part of a specialist assessment who give informed consent for the test.

Numerator – The number of people in the denominator who give informed consent for the test.

Denominator – The number of people with a clinical diagnosis of FH receiving DNA testing as part of a specialist assessment.

Data source: Local data collection using a dedicated database.

Outcome

Patient satisfaction with process of informed consent.

Data source: Local data collection.

What the quality statement means for service providers, healthcare practitioners, and commissioners

Service providers ensure that systems are in place for people with a clinical diagnosis of FH to be offered DNA testing as part of a specialist assessment.

Specialists with expertise in FH offer DNA testing to people with a clinical diagnosis of FH as part of a specialist assessment.

Commissioners ensure that they commission services that offer DNA testing to people with a clinical diagnosis of FH as part of a specialist assessment.

What the quality statement means for patients, service users and carers

People who are given a clinical diagnosis of FH because they have high cholesterol and family history or other signs are offered DNA testing as part of a specialist assessment.

Source guidance

Familial hypercholesterolaemia: identification and management (NICE guideline CG71), recommendation 1.1.6

Definitions of terms used in this quality statement

Familial hypercholesterolaemia (FH)

FH relates to heterozygous FH only.

Assessment for a clinical diagnosis of FH

NICE's guideline on familial hypercholesterolaemia recommends assessment for a clinical diagnosis of FH using all 3 criteria below:

  • exclusion of secondary causes of hypercholesterolaemia

  • 2 measurements of LDL‑C concentration

  • assessment against Simon Broome or Dutch Lipid Clinic Network (DLCN) criteria to make a clinical diagnosis of FH in primary care settings.

DNA testing

DNA testing should test for all gene mutations known to cause FH. Methods should meet the standards set out by the UK Genetic Testing Network. Informed consent should be given for DNA testing.