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Commercial innovators invited to form clinical partnerships to find AI solutions to genomic interpretation

The Accelerated Access Collaborative (AAC), in partnership with NHSX and the National Institute for Health Research (NIHR), plans to make £140 million available over four years through the Artificial Intelligence in Health and Care Award. This is to accelerate the testing and evaluation of the most promising AI technologies which meet the strategic aims set out in the NHS Long Term Plan. This funding is supporting technologies across the spectrum of development, from initial feasibility to evaluation within the NHS. Round 3 has four focus areas:

  1. Self-management of long-term conditions
  2. Diagnostic support*
  3. Improving operational/system efficiency*
  4. Supporting elective recovery

*Potential genomics areas of interest

The closing date for applications is 6 Sept 2021. Applications are limited to phases 2-4 (development of prototypes and generation of early clinical safety/efficacy data towards CE/UKCA marking; first real world testing in health and social care settings; through to facilitation of systems adoption of AI technologies with market authorisation into the NHS and clinical evaluation; real world testing; and initial health system adoption). Funding for individual projects ranges from £500,000-£700,000.

Who are the clinical partners?

The Central and South (CAS) Genome Medicine Service Alliance (GMSA) covers Southampton and the Wessex region through the Thames Valley to the West Midlands. It works with the CAS Genomics Laboratory Hub to provide genomic diagnostic services and embed genomics into patient care pathways for a population of 18 million. The alliance brings together over 50 NHS hospital trusts and three Academic Health Science Networks (including the Oxford AHSN).

What is the need?

Currently the time taken from requesting a WGS genomic diagnostic test for a patient to that patient receiving the result is up to 80 days. While the technical sequencing aspects are automated, the interpretation of disease-causing variants is labour intensive, requiring searches through software prediction databases and arduous literature searches. The need is to develop algorithms for genomic variant interpretation, that will predict with a high degree of accuracy whether the variant or variants are the cause of a patient’s disease. The goal is to reduce the turnaround time to under 40 days.

Areas of interest aligned to the NHS Genomics Strategy include:

  • Variant discovery
  • Sequence data analysis and tiering
  • Polygenic risk scoring
  • Case discovery. Referral decision support tools
  • Coding of EPR data. Clinical histories

GMSA contacts for further information

Birmingham:   Oxford:   Southampton: