A total of 55 gene dossier submissions were submitted to UKGTN.  48 were evaluated by the Genetic Test Evaluation Working Group and 45 recommendations for new test services were endorsed by the UKGTN Clinical and Scientific Advisory Group (CSAG) on September 16th 2014. 38 applications are for funding under prescribed services and 7 by highly specialised services arrangements.  11 fulfilled the criteria for evaluation by the very rare process. 23 submissions are for panel tests using next generation sequence technology (NGS) and 2 are for tests using non-invasive prenatal diagnosis (NIPD) technology. 6 tests were not evaluated due to insufficient validation data and another was not evaluated as it was outside the UKGTN remit.  Potential savings are a mixture of actual savings (e.g. NGS replacing Sanger sequencing) and efficiencies as they release capacity for alternative use in the NHS (e.g. MRI no longer required for clinical diagnosis).  The savings in medical genetics is due to less index activity and the lower cost of testing family members.  Further information including a summary report, list of tests by provider laboratory and the clinical benefits of testing are available from the UKGTN website here.

UKGTN organised a joint workshop with the Cancer Genetics Group on 15 July 2014 to draw up UKGTN testing criteria for Familial Breast and Ovarian Cancer.  The PHG Foundation published a summary report in October 2014 which is available to download from the UKGTN website.

UKGTN is discussing with relevant professional organisations e.g. Joint Committee on Genomics in Medicine (JCGM) a process to ensure consistency in the development and quality of NGS panel tests.  A paper summarising variation of the genes currently being offered for the same clinical phenotype is informing these discussions.

UKGTN organised a joint workshop with Genetic Alliance UK held in London on 14 August 2014 to discuss potential measurable clinical outcomes for patients with rare diseases based on the 5 domains adopted by NHSE. The workshop was attended by several Patient Support groups and members of the UKGTN Rare Disease Service Improvement Working Group.  Following the workshop, UKGTN met with the Health and Social Care Information Centre (HSCIC) who are the guardians of outcome measures to discuss the potential development of outcome measures for genetics and the process for adoption. A summary report will be provided from the workshop

A workshop, jointly hosted by UKGTN and Healthcare UK, took place on 25 April 2014 to explore international business opportunities for NHS Genetics. Healthcare UK works across the Departments of Trade and Industry and Health to promote the UK abroad.

UKGTN has established a working group whose remit includes:

• Setting out an ethical framework for the provision of genetic services
• Developing a brochure of potential clinical, laboratory and managerial genetic services that could be offered overseas
• Using the UKGTN directory to demonstrate the laboratory repertoire of services