Category: Genetic Testing

A Guide to Lynch Syndrome

Lynch Syndrome 

Lynch Syndrome is an inherited condition that increases your risk of developing some cancers, including bowel, womb and ovarian cancer. We have developed a guide to run through everything you need to know about Lynch.

A Guide to Lynch Syndrome 

You can download a copy here

This guide has been made with input from experts, people with Lynch Syndrome and our Ask Eve nurses to provide you with all the information you need when offered testing for, or navigating a diagnosis of, Lynch Syndrome.  

We also have an Easy Read guide to Lynch Syndrome, which you can download here 

Lynch Syndrome

MyLynch: A Patient-Facing Clinical Decision Support Tool for Genetically-Guided Personalised Medicine in Lynch Syndrome

Lynch syndrome (LS) is associated with varying cancer risks depending on which of the five causative genes harbors a pathogenic variant; however, lifestyle and medical interventions provide options to lower those risks.

“We developed MyLynch, a patient-facing clinical decision support (CDS) web application that applies genetically-guided personalized medicine (GPM) for individuals with LS. MyLynch informs LS patients of their personal cancer risks, educates patients on relevant interventions, and provides patients with adjusted risk estimates depending on the interventions they choose to pursue. MyLynch can improve risk communication between patients and providers while also encouraging communication among relatives with the goal of increasing cascade testing. As genetic panel testing becomes more widely available, GPM will play an increasingly important role in patient care, and CDS tools offer patients and providers tailored information to inform decision-making. MyLynch provides personalised cancer risk estimates and interventions to lower these risks for patients with LS.”

https://www.mdpi.com/2072-6694/15/2/391

“The MyLynch risk estimates and their clinical utility should be validated on larger samples of patients in future studies. We also plan to produce a mobile compatible version of the app as well as incorporate risk uncertainty into the estimates.”

Gimme Shelter from Lynch Syndrome

“There is much to be optimistic about right now for those with Lynch. Many medical discoveries and advances have been made within the past decade. Aspirin is used as a chemoprevention, immunotherapy may put various Lynch syndrome-related cancer in remission, and AI is improving screening measures, specifically for colonoscopies. What excites me the most is the Lynch vaccine in clinical trials now. The Lynch landscape has changed since my diagnosis 12 years ago.”

https://www.curetoday.com/view/gimme-shelter-from-lynch-syndrome

Online personalised resource for you and yours who have been impacted by a gynaecological cancer.

Gynaecological cancers refer to any cancer of the female reproductive system which includes the uterus (womb), the ovaries, the cervix (the neck of the womb), the vulva (the outer part of the female genitals) or the vagina.

Ovarian cancer and was launched in February 2022 and the genetic conditions, BRCA and Lynch Syndrome, were added in May 2022.  Uterine cancer went live in September 2022.  Vulva cancer and vaginal cancer will be live before the end of 2022.

Just log on to https://thisisgo.ie and select “My Profile”

Many Early Onset Colon Cancers are Caused by Genetic Mutations Through Families

“The prevalence of hereditary cancer syndromes among early-onset colorectal cancer patients – including Lynch syndrome – was quite high, which presents a tremendous opportunity for us to save lives through early detection based on genomic risk factors,” 

Based on this new data, the OSUCCC – James research team recommends genetic counseling and a broad, multi-gene panel test of cancer susceptibility genes for all early-onset colorectal cancer patients, regardless of family history or the results of tumor screening for Lynch syndrome. This differs from current professional guidelines, which recommend all colorectal cancer patients be screened for Lynch syndrome, with referral for genetic counseling and Lynch syndrome-specific genetic testing if the tumor-screening test is abnormal.

“We expected to find a high rate of Lynch syndrome among these early-onset colon cancer patients. What was surprising were some of the other gene mutations found in the young colorectal cancer patients, including mutations in genes traditionally linked to breast cancer risk, even in patients whose family history was not suggestive of those mutations,” 

https://news.cancerconnect.com/colon-cancer/many-early-onset-colon-cancers-are-caused-by-genetic-mutations-through-families

Person-based co-design of a decision aid template for people with a genetic predisposition to cancer

https://www.frontiersin.org/articles/10.3389/fdgth.2022.1039701/full

Conclusion: Adopting a co-design process helped ensure that the decision aid components were relevant and accessible to the target population. The template could have widespread application through being adapted for different genetic predispositions. The exact content should be co-designed with people from diverse backgrounds with lived experience of the specific predisposition to ensure it is as useful, engaging and relevant as possible

Women with womb cancer are to be offered a genetic test for Lynch syndrome

Oct 2020 -UK

Women with Lynch syndrome are likely to develop womb cancer before showing signs of bowel cancer. A diagnosis of the genetic condition means they can be offered regular checks, and aspirin therapy, to reduce their risk of bowel cancer.

Researchers found that, of 305 UK women offered testing for Lynch syndrome around the time of their treatment for womb cancer, 302 accepted.

Women’s family members can also be offered testing. The researchers found that protecting family members was the main reason why women wanted to be tested. They were most receptive at follow-up appointments after surgery for their womb cancer.

GeNotes helps healthcare professionals make the right genomics decisions at each stage of a clinical pathway(NHS)

Put simply, GeNotes provides educational information at the point of need (In the Clinic), with opportunities for extended learning (Knowledge Hub).

In the Clinic

The ‘In the Clinic’ articles are focused on the point of patient care, and each concise article is centred around a clinical scenario. The articles are organised into clinical specialties, with oncology being the first of many (see ‘The GeNotes roadmap’, below).

In the Clinic articles are framed round two contexts:

  1. presentation, or testing, stage; and
  2. results stage.

Presentation articles are aligned to NHS England’s National Genomic Test Directory, and allow the clinician to:

  • locate themselves through a generic clinical scenario;
  • check whether their patient is eligible for genomic testing; and
  • access information on how to request testing.

Results articles educate the clinician about the different types of results that may be returned and how these should or could be actioned, whether:

  • clinically actionable;
  • variant(s) of uncertain significance; or
  • no clinically actionable variant identified.

City of Hope grows its genetic testing program

“Every mutation that is known to be associated with elevated cancer risk is actionable at some level,”

But that is not yet the standard of care. Yes, more and more cancer centers offer genetic testing.

https://www.cityofhope.org/city-hope-grows-its-genetic-testing-program

Transforming diagnosis of Lynch syndrome in the NHS, working together to “Find the missing 95%

This ongoing transformational project is supported by high levels of engagement across stakeholders in England. Despite barriers, significant quality improvement has been implemented, facilitating systematic delivery of universal testing for LS nationally, with reduction in variation in care. 

Can we appoint Clinical Leads to champion & introduce Universal Testing at Cancer centres in Ireland to improve the service, prevent/detect early genetic cancers and provide a much improved service for people with an inherited predisposition to cancer?

https://www.researchgate.net/publication/364756374_PP031-_The_English_National_Lynch_syndrome_transformation_project_An_NHS_Genomic_Medicine_Service_Programme