People used to think I was a novelty because I was interested in genetics!

Clinical Geneticist, Adam Shaw shares his thoughts on why it's important to screen people for Lynch Syndrome.

Adam Shaw is a Clinical Geneticist and heads up the Genetics team at Guys and  St Thomas’ Hospitals.
“When I started in genetics 22 years ago, there weren’t many genetic tests we could do, but now we know it’s the future for cancer treatment and increasingly prevention.”

He is particularly passionate about Lynch Syndrome which is a genetic condition that can increase your risk of developing cancer to about 80% over your lifetime.
Lynch is one of the most common genetic conditions with one in 350 people having the genetic change that causes it. “That’s about 25 for every GP practice, but 95% of people don’t know they have it.”

“We thought the breakthrough came in 2017, when new NICE guidelines recommended all bowel cancer patients should be screened for Lynch Syndrome.”

But in 2019 this was still only happening for 40% of patients. Adam is now part of a national team who are working to turn the Lynch dream into reality. Together they are supporting individual NHS Trusts to establish their own Lynch screening.

Adam is very clear about the benefits of a national Lynch screening.
1. Screening gives us the one chance to prevent future cancers. Don’t miss this chance to put prevention in place.
2. Look at the whole patient – not just the tumour in front of you. Whilst it is of course important to treat people for the cancer they have right now, it is equally important for the patient, and their families, to prevent future cancers.
3. Don’t be scared of genetics. Everyone can do genetics. We can help you to learn and set up your own testing. It’s much quicker for you and your patients.

The team have successfully supported many NHS Trusts to establish their own screening for Lynch Syndrome. These new pathways are offering clear benefits for both patients as well as the medical teams. Clinical Geneticists, such as Adam, remain on hand to support patients once they have a Lynch diagnosis as well as organising testing for their families. There is also a dedicated Lynch nurse in every region offering training, education and support.

“A Lynch diagnosis can open up new treatment options for your patients such as immunotherapy. By delivering Lynch screening in your own Trust you will reduce the waiting time, be able to treat your patient more effectively and prevent future cancers. The dream can be a reality.”

Up to 300,000 people are thought to have Lynch Syndrome in the UK right now, but only 5% of them know they have it.
Everyone who is diagnosed with bowel or endometrial cancer is now screened for Lynch Syndrome as part of a national NHS programme.

A genetic diagnosis of Lynch Syndrome means that Doctors can treat your cancer more effectively, but it also means your family can access genetic testing for Lynch to help prevent cancer in them.
Lynch Syndrome can increase your risk of developing cancer to 80% over your lifetime. The genetic change seen in Lynch can lead to more abnormal cells developing which then multiply and become cancerous.

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With any Whole Genome Sequencing (WGS) test ordered, a Record of Discussion (RoD) form will also need to be submitted. This document is to record the patient’s consent for genomic testing and their choice on taking part in research. Guidance on the patient choice conversation can be found here
This RoD form will be available for clinicians to download from this webpage. Once completed with the patient, it can be send to the lab with the corresponding test order form and sample.
Tests available to order will be listed in the National Genomic Test Directory. A test order form will soon be made available for clinicians on this webpage to download and complete. This form will include the address of the laboratory that the appropriate sample and completed form needs to be sent to.
Until the new Genomic Laboratory Service goes live, please continue to follow existing test order processes.
Later this year, the online test ordering tool for Whole Genome Sequencing will be integrated into the National Genomics Informatics System (NGIS) and clinicians will be able to search or filter to find a clinical indication, confirm eligibility criteria and start the test request process for their patient.