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<p>A National Health Service testing programme is helping to diagnose thousands of
people with a genetic condition, Lynch Syndrome, that increases the chance of developing
certain cancers including bowel cancer. The national programme ensures all people
diagnosed with bowel cancer are offered genomic testing, with a diagnosis for Lynch
Syndrome not only helping to guide more personalised cancer treatment but enabling
their families and relatives to be offered testing too. Relatives who receive a diagnosis
of Lynch Syndrome can be referred to genetic services to discuss regular testing options
to help catch any cancers as early as possible, as well as to consider preventive
options such as taking aspirin or undergoing risk-reducing surgery.</p><p>Genomic
testing in the NHS in England is provided through the NHS Genomic Medicine Service
(GMS) and delivered by a national genomic testing network of seven NHS Genomic Laboratory
Hubs (GLHs). The NHS GLHs deliver testing as directed by the National Genomic Test
Directory (NGTD) which outlines the full range of genomic testing offered by the NHS
in England including tests for 3,200 rare diseases and over 200 cancer clinical indications,
including both whole genome sequencing (WGS) and non-WGS testing. The NGTD sets out
the eligibility criteria for patients to access testing as well as the genomic targets
to be tested and the method that should be used, including testing for bowel cancer
patients.</p><p>The NHS GMS cancer genomic testing strategy has facilitated a move
to a consolidated laboratory network through the seven NHS GLHs delivering more extensive
panel testing using cutting edge high throughput Next Generation Sequencing (NGS)
technology. For patients, including those with bowel cancer, this technology enables
testing for a larger number of genetic variations to give a more precise diagnosis,
identify biomarkers to target treatment and opportunities to access innovative medicines,
and can support enrolment into molecularly stratified clinical trials.</p><p>Testing
is available for all eligible patients across the whole of England. Individuals should
discuss with their healthcare professional (for example, their general practitioner
or other healthcare professional if they are already being seen in a relevant service)
whether genomic testing is appropriate for them. Their healthcare professional will
then make a decision whether to refer the individual either directly or via an NHS
clinical genomics service or other relevant clinical speciality for genomic testing
following clinical review of their and their family’s medical history if known, and
the relevant genomic testing eligibility criteria.</p><p>The 17 NHS Clinical Genomic
Services (NHS CGSs), commissioned by NHS England, deliver a comprehensive clinical
genomic and counselling service that directs the diagnosis, risk assessment and lifelong
clinical management of patients of all ages and their families who have, or are at
risk of having, a rare genetic or genomic condition. As part of the NHS CGS, the patient
and their family will access diagnosis, and management relevant to their particular
condition, but also receive support and guidance so that they are able to understand
their condition, its implications, and their options in relation to reproduction,
screening, prevention and clinical management.</p>
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