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Draft service specification for genetic services in Wales

Last Reviewed 20/11/2016

The Welsh health specialised services committee (WHSSC) has been consulting on its draft service specification for genetic services. The service specification covers a description of clinical and laboratory genetics services, referral pathway and monitoring arrangements for quality and performance.

In our response we have drawn attention to the experience of those with undiagnosed conditions and their families. Some 50% of children who are in contact with NHS Regional Genetics Services may not get a diagnosis. The current service specification for genetics services in Wales does not include a clear pathway for those with undiagnosed conditions.

We also discuss our concerns over the independent patient funding request (IPFR) – you can read more about our thoughts on this, and other access issues in Wales, in our report “Improving access to specialised services and therapies for Welsh patients”.

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