Understanding the Underutilisation of Germline Genetic Testing in Prostate Cancer

https://dailynews.ascopubs.org/do/understanding-underutilization-germline-genetic-testing-prostate-cancer

Germline genetic testing, no longer an “exceptional” test offered only to select families with multiple generations of cancer, has become the standard of care for many cancers, including prostate cancer. It is imperative that patients be offered timely testing, as positive results may inform shared patient–physician decision-making for regulatory-approved therapies. 

Key Points:

  • Indications for and implications of germline testing in patients with prostate cancer have expanded over the past decade, particularly related to precision therapies and management.
  • Germline testing for prostate cancer is vastly underused despite many patients qualifying for testing.
  • It is imperative that a variety of well-studied genetics service delivery models be used to help overcome recognized barriers to the implementation of germline testing for prostate cancer so that patients and their families receive the most effective care.

Be aware of gene changes and cancer in your family and take part in screening to reduce your risk of cancer.

https://www.cancer.ie/cancer-information-and-support/cancer-types/bowel-colorectal-cancer/lynch-syndrome

Normal Human DNA Variation – Variant of Unknown Significance (VUS)

A short animation from Dr Sally Ann Lynch explaining Variants of Unknown Significance in medical genetics. (2018)

What is the Lynch syndrome registry? (England)

The Lynch syndrome registry records and analyses important information about people with Lynch syndrome.

This helps to understand how people with Lynch syndrome are looked after and cared for across England. All information is held on a secure and confidential computer database.

Why have a Lynch syndrome registry? 

The registry will collect information from people with Lynch syndrome and help to better understand how these people are currently being monitored and managed.

The registry will ultimately be an efficient system that with the help of the bowel cancer screening programme will allow nationally coordinated care for you and others with Lynch syndrome.

It will also become a valuable central research resource that could be used to support other studies.

Lynch Syndrome Ireland: office assistant

Eddie argues….It’s a no brainer get testedit could save you or your family members a lot of trouble in the future.

Lynch Syndrome and me: Leanne’s story

There are two things I want people to know. Firstly, the understanding about LS at all the different touch points in the NHS is amazing. Secondly, having LS isn’t necessarily a bad thing. I have the MSH2 variant. It’s not great to know all the associated risks, but it gives me the opportunity to better both my and my family’s future chances. It’s a blessing in disguise to discover this.”

“When we found out, we spoke with other family members as I felt that I needed to let them know. Some of my relatives came forward and got themselves tested to see if they could make the same informed decisions; others didn’t.”

Having this knowledge has enabled me to make decisions about my life.

Mainstreaming. Cancer Test: Predisposition to cancer

Check out RTE Nine O Clock News…starts at 11.30 min. into programme.

https://www.rte.ie/player/series/rté-news-nine-o-clock/SI0000001468?epguid=IH10000961-23-0182

See recently launched National Hereditary Cancer Model of Care (NCCP)

Lynch Syndrome Booklet -Eve Appeal(UK)

Lynch Syndrome and understanding your options

People with Lynch Syndrome are at a higher risk than the general population of developing some cancers. Identifying people who have Lynch Syndrome can have important benefits, including prevention of cancer, spotting it early and helping doctors decide on the best treatment for people who do develop cancer.

This booklet aims to help you understand more about the syndrome, what your options are

Finding the missing 95%: The Lynch syndrome diagnostic pathway to mainstreaming: NHS

Workshop to hear about the diagnostic pathway all the way to mainstreaming genetic testing & setting-up new clinics.

https://www.norththamesglh.nhs.uk/lynch-syndrome-pathway-mainstreaming/

Hereditary Cancer Model of Care launched yesterday in Ireland

This provides the blueprint for the necessary development of hereditary cancer services in Ireland.