Patients with a family history of HD
For example, patients with a family history of HD or suggestive of HD:
- All patients should be referred to Clinical Genetics for investigation of family history and discussions of the implications of HD and testing for HD.
Patients with a medium prior risk of genetic disease
For example, patients with symptoms suggestive of HD but no family history: For such patients testing may have profound implications for them or their family.
Where the clinician feels that testing can proceed without referral to Clinical Genetics:
- Implications of the testing should be discussed in some depth with the patient and accompanying family members before performing the test. Patients should be given the option to defer or refuse testing.
- A negative family history should be documented. Even if family history appears negative, the family may be known to the Clinical Genetics Department.
- The Huntington’s advisory service can provide useful support for patients around the time of testing.
Patients with a low prior risk
For example, patients with unexplained dementia who are about to undergo a brain biopsy: For such patients, referral to Clinical Genetics may cause unnecessary concern as well as increasing the number of appointments a patient has to attend.
- A negative family history should be documented.
- The nature and implications of the HD test should be discussed with the patient and accompanying relatives by the clinician.
- Testing can proceed without referral to Clinical Genetics, unless patient or clinician wish a genetic referral
