Test Directory – Frequently Asked Questions

Session Lead: Sian Morgan, Head of Laboratory, AWMGS

1) Is England’s genomics service more advanced than Wales’, and will Welsh patients benefit from the English network?

Sian explained that Wales was the first NHS system to introduce rapid whole genome sequencing (WGS) in 2020 and has since expanded capacity with government investment. While not all tests are available in Wales, samples can be sent to other UK labs to ensure equitable access. She noted that the centralised testing model in England is set to change by 2026, and Wales is preparing to adapt accordingly.

2) Are all Welsh Health Boards aligned with the genomics service?

It was confirmed that AWMGS provides testing consistently across Wales, achieving a diagnostic yield of around 30–40%, a significant improvement from previous rates.

3) How unified are Welsh services with England’s? Should Wales collaborate more or maintain independence?

Sian emphasized that all services undergo strict governance and value-based review. Given the specialized nature of genomics, collaboration across the UK is common. She noted that the Joint Commissioning Committee supports Welsh access to all approved tests, and ongoing discussions help tailor services to Welsh clinical needs.

4) Do WGS tests communicate incidental findings beyond the suspected condition?

It was confirmed that testing is targeted based on clinical suspicion using gene panels to minimize incidental findings, with governance procedures in place to carefully manage any unexpected results.

5) Will expertise remain if testing shifts away from Exeter?

Sian described how centralised sequencing is done in Cambridge, with sample preparation in Birmingham. Exeter runs urgent tests for England. She assured that collaboration between centres ensures no loss of care quality for Wales regardless of sequencing location.

6) What are the hopes for genomics’ future?

Sian highlighted advances in cancer genomics for personalized medicine, the need for a genomics-educated healthcare workforce, and goals to improve rare disease diagnosis rates.

7) How is test review managed, and what defines urgent testing?

It was explained that reviews align with NICE, WHO, and professional guidance, with appraisals automatically included in the Test Directory. Urgent tests are those critical for clinical care, such as prenatal screening or pharmacogenomics for cancer treatment.

Q: Are there genetic tests prioritized for Wales’ population?

Sian noted that a Wales-specific screening for Duchenne Muscular Dystrophy previously existed but is no longer active.

Q: How are conditions prioritized for testing?

Sian clarified that prioritization is based on clinical utility, validity, cost, and patient benefit, following strict criteria for each test provided.