CSAG endorsed the revised remit at the March meeting for:
“Any genetic test provided by a UKGTN member laboratory for NHS service provision for rare disorders that usually affect fewer than 1 in 2000 as described in the UK Rare Disease Strategy”.

As part of the current genetic test evaluation cycle in January 2014, several laboratories informed the UKGTN that they were unable to submit validation data for NGS Large Panel tests by the Jan 31st deadline for submissions.  The Project Team therefore reviewed the current evaluation process and explored options to enable laboratories more opportunities to submit their applications over the year thereby allowing genetic test recommendations to be presented at both the spring and autumn UKGTN Clinical and Scientific Advisory Group (CSAG) meetings. The Genetic Test Evaluation Working Group (GTEWG) considered the advantages and challenges of the suggested options at its meeting on 13th March 2014.  The Group supported a change in the current arrangements to a two submission deadlines option introducing a second submission deadline of July 31st. CSAG endorsed this recommendation at the spring meeting held on 25th March 2014 and the Project Team are implementing the process for 2014/2015.

A report providing information on the activity and costs associated with new tests recommended for service through the UKGTN Genetic Test Evaluation process in the four years 2007, 2008, 2009 and 2010 was endorsed at the March CSAG meeting.  It compares the activity and costs estimated in the approved gene dossiers with the actual activity and costs at least two years post the introduction of the test into NHS service.  The report is available to download from the UKGTN website.

The recommendations are:

1. Significant differences between estimated and actual genetic test activity should be investigated.

2. An audit of new tests recommended for NHS service by UKGTN should be performed two years post introduction into the NHS.

A total of 55 gene dossier applications have been received by UKGTN for evaluation by the Genetic Test Evaluation Working Group (formerly the Gene Dossier Working Group).  48 applications are for funding under specialised services arrangements and 7 by highly specialised services arrangements.  12 fulfilled the criteria for evaluation by the very rare process. 31 submissions are for panel tests using next generation sequence technology (NGS).

UKGTN has completed the assignment of molecular and cytogenetic genetic tests to NHS England CRGs  to aid consultation on emerging diagnostic care pathways and new  tests being developed. The data tables are available for download from the UKGTN website here. 

UKGTN hosted an expert workshop on the 18th February in London and was attended by 45 scientific representatives from UKGTN member laboratories. The aim of the workshop was to review and refine the GenU system for both molecular and cytogenetics and develop the molecular system to cover NGS.  The delegates engaged in lively discussions and suggested revisions to the system. The GenU system will be revised and piloted by laboratories in 2014.

A workshop, jointly hosted by UKGTN and Healthcare UK, took place on 25th April to explore the international business opportunities for Genetics. Healthcare UK works across the Departments of Trade and Industry and Health to promote the UK abroad. A report on the workshop is being prepared by Healthcare UK that will be circulated to participants for comments.  A survey has been distributed to capture current international interests so that these do not conflict with new developments.
UKGTN were invited to establish a working group to develop a brochure of NHS genetic services, clinical, laboratory and managerial to be offered overseas.

The UKGTN Director was invited to join this group that will report to the Health Ministers of the four countries on the progress on implementing the UK Strategy for Rare Diseases. The first meeting was held on 11th March 2014. UKGTN was invited to provide a summary of data and information that would be of relevance to the Forum’s work. This was returned and subsequently we were requested to align the submission against the 51 commitments outlined in the Strategy. The revised paper was endorsed through the Rare Disease Service Improvement Working Group and is available to download from UKGTN website.