England’s latest Lynch syndrome patient database may transform the disease’s detection and monitoring, becoming a blueprint for other genomic diseases.
Why Lynch syndrome?
The English National Lynch Syndrome Registry holds over 9,000 patient records, but what is it about Lynch syndrome that warrants a national database? It ticked a number of boxes, from researchers knowing a lot about it to there being a strong public health argument to focus on.
Lynch syndrome is a fairly well-understood condition with a high penetrance. This makes cascade testing, which is where the patient’s family members are considered for testing, very likely to pick up new cases before Lynch syndrome-associated cancer develops – which can include colorectal and endometrial cancers. When new cases are found, there are ways in which risk can be reduced for those affected that are relatively cheap, available and simple. Advice on this includes a NICE recommendation to take aspirin and attending colonoscopies.
- GeNotes In the Clinic: Presentation: Patient with a genetic diagnosis of Lynch syndrome
- GeNotes knowledge hub: Lynch syndrome
- Patient film: Tom’s story: genomic testing and treatment for Lynch syndrome
Lynch Syndrome Ireland 