# Outcomes from the English National Lynch Syndrome transformation project

## TL;DR

The NHS in England successfully increased Lynch syndrome diagnosis by 255% through integrating genetic testing into routine cancer care.

## Contribution

A national project successfully mainstreamed genetic testing for Lynch syndrome in colorectal and endometrial cancer care.

## Key findings

- Lynch syndrome diagnosis increased by 255% from 2020 to 2024.
- Tumor MMR testing rates rose to over 94% for both colorectal and endometrial cancers.
- Mainstreamed testing reduced the time to germline genetic testing from 180 to 21 days.

## Abstract

The English National Health Service (NHS) Lynch Syndrome Transformation Project was established to deliver universal testing for Lynch syndrome (LS) of newly diagnosed colorectal (CRC) and endometrial cancer (EC). A central aim was to integrate ‘mainstreamed’ genetic testing into routine care by cancer multidisciplinary teams in England. In June 2021 national and regional LS project teams were established to support ‘LS champions’ within local cancer multidisciplinary teams (MDTs). A comprehensive retrospective genomic dataset and dashboard was compiled by the National Disease Registration Service (NDRS), complimented with prospective local MDT audit (2022–2023). A robust national registry of people diagnosed with LS was developed to ascertain individuals for targeted interventions, including for a new national LS Bowel Cancer Screening Programme (LS‐BCSP). In total 276 LS champions were appointed and trained across 248 CRC and EC MDTs (>95% coverage nationally). Tumour Mismatch repair (MMR) tumour testing rates increased for CRC (43 >94%) and EC (19 >94%). MDT‐led mainstreaming services were developed in 46% of all CRC and 41% EC teams in England. In subgroup data, the time to germline genetic testing was 21 days in ‘mainstreamed’ patients, versus 180 days referred to regional clinical genetics services. New diagnoses of LS have consistently increased each year from a total of 545 in 2020 to a total of 1394 in 2024 (an increase of 255% vs. a target of >50%). The NHS England LS Transformation project has driven equitable nationwide delivery of diagnosis testing for Lynch syndrome, with integration of ‘mainstreamed’ genetic testing into routine cancer care.

What's new?

The elevated cancer risk conferred by Lynch syndrome can be mitigated through preventive interventions. However, Lynch syndrome often goes underdiagnosed. The National Lynch Syndrome Transformation Project in England aims to ensure that patients newly diagnosed with colorectal or endometrial cancer are offered testing for the syndrome. After working with cancer multidisciplinary teams across the country, the authors report a 255% improvement in Lynch syndrome diagnosis between 2020 and 2024, identifying over 10,000 patients for a national registry. The project has driven equitable nationwide delivery of diagnosis testing for Lynch syndrome, with integration of mainstreamed genetic testing into routine cancer care.