Finding out if you have symptoms of HD
Examples of Support
Diagnostic testing
Neurological Assessment
Emotional support and counselling
Accurate information about HD
Post-test follow up and referral on to other support services
Process and timescale for testing
Key Services and People
Integrated Multi Agency Arrangements, Referral Pathways and Resources
Clients without symptoms but with a family history of HD, and who wish to consider predictive testing, should be referred to the local genetics service. All referrals to local Dept. of Clinical Genetics can be made by any health & social care professional, most commonly GP, HD Specialist, HD Clinical Lead, Psychiatry & Specialist Youth Advisors. Some clinical genetics services also accept requests for genetic counselling directly from clients who describe an HD family history.
Clients with symptoms suggestive of HD, and a known family history of HD, should be referred to the local HD Management Clinic.
Clients with symptoms which could be due to HD, but with no known family history of HD, can be offered a diagnostic genetic test directly by neurology clinics. Prior to testing clients must be informed that they are being tested for a hereditary condition, and that there might be implications for their relatives if they test positive. If HD is confirmed, such clients should be referred to the HD multidisciplinary team. These teams will liaise as appropriate with a range of specialist services, including HD Specialists and Specialist Youth Advisers.
GP information services, such as SCI Gateway and/or local alternative, should clearly identify HD Clinical Leads.
It must not be assumed that clients with a family history of HD choosing not to take the test, or receiving a negative result, require no further support. Access to further support and advice – such as that provided by HD Specialist, Specialist Youth Advisor, psychology/ neuropsychology and talking therapy services – should be offered.
Standards
The International Protocol for Testing should be followed unless a clinical decision has been made to follow a local alternative.
All appointments should meet the treatment time guarantee and referral standards of individual services used.
Outcomes
People with symptoms of HD who choose to pursue a diagnosis receive one promptly and they, and their families, are connected to appropriate support.