Quality standard
Quality statement 3: DNA testing
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
The following measures can be used to assess the quality of care or service provision specified in the statement. They are examples of how the statement can be measured, and can be adapted and used flexibly.
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.
What the quality statement means for different audiences
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.
People who are given a clinical diagnosis of FH because they have high cholesterol, 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 (2008, updated 2019), recommendation 1.1.6
Definitions of terms used in this quality statement
Clinical diagnosis of FH
Assessment for a clinical diagnosis of FH should use all 3 criteria below:
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exclusion of secondary causes of hypercholesterolaemia
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2 measurements of LDL‑C concentration
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assessment against Simon Broome or Dutch Lipid Clinic Network criteria to make a clinical diagnosis of FH in primary care settings.
[Adapted from NICE's guideline on familial hypercholesterolaemia, recommendations 1.1.4, 1.1.5 and 1.1.9]
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.