Outcomes from the English National Lynch Syndrome transformation project

Area of Science:

• Oncology
• Genetics
• Public Health

Background:

• Lynch syndrome (LS) increases the risk of colorectal (CRC) and endometrial cancer (EC).
• Universal genetic testing for LS in newly diagnosed CRC and EC aims to improve patient outcomes.
• Integrating genetic testing into routine cancer care requires significant transformation of existing services.

Purpose of the Study:

• To evaluate the implementation and impact of the NHS England Lynch Syndrome Transformation Project.
• To assess the effectiveness of integrating 'mainstreamed' genetic testing into routine cancer care for LS.
• To establish a national registry for LS diagnoses and facilitate targeted interventions.

Main Methods:

• Establishment of national and regional LS project teams and 'LS champions' within multidisciplinary teams (MDTs).
• Compilation of a retrospective genomic dataset and prospective MDT audits.
• Development of a national registry for LS diagnoses and a national LS Bowel Cancer Screening Programme (LS-BCSP).

Main Results:

• Tumour Mismatch repair (MMR) testing rates increased significantly for CRC (43% to >94%) and EC (19% to >94%).
• Mainstreamed genetic testing reduced the time to diagnosis from 180 days to 21 days.
• New LS diagnoses increased by 255% (545 in 2020 to 1394 in 2024), exceeding the target.

Conclusions:

• The NHS England LS Transformation Project successfully implemented universal Lynch syndrome testing nationwide.
• 'Mainstreamed' genetic testing has been effectively integrated into routine cancer care for colorectal and endometrial cancers.
• The project has significantly improved the diagnosis rate and efficiency of genetic testing for Lynch syndrome.