Deciding whether to have the genetic test
Examples of Support
Finding out about and telling others about HD
Living with genetic risk and testing
Getting information when required (e.g. on family life with HD, emotional wellbeing & coping skills, condition information and access to services)
Advice to help decide whether genetic testing is right for you
Predictive testing
Diagnostic testing
Key Services and People
Clinical psychology/Neuropsychology (through referral from GP or HD Clinical Lead )
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 multi-disciplinary team.
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 /TRAKcare, 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, clinical 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.
Whoever is designated as lead professional should take responsibility for coordinating the support each client requires throughout their testing journey.
Outcomes
People living with the genetic risk of HD and their families have easy access to accurate and understandable information, receive emotional and practical support and feel supported through all testing choices and outcomes.