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

‘My cancer will eventually take my life, but not before I’ve lived it’

“Prostate cancer is the most common cancer affecting men in Ireland and early detection is vital to a good prognosis”

“I should of course have listened to the warning signals that my body was trying to tell me, but, more fool me, I thought I knew different.”

Discovering you have cancer is undoubtedly difficult, and John would advise anyone who has recently been diagnosed to accept all the support they are offered. He would also encourage everyone to be aware of any changes in their bodies and seek medical advice as soon as they spot any changes.

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

Constitutional (germline) vs somatic (tumour) variants?

Constitutional (also known as germline) variants are present in all the body’s cells, including the germ cells, and can therefore be passed on to offspring e.g. Lynch Syndrome; Somatic variants arise during an individual’s lifetime in tissues other than the germ cells and so are not passed on.

Constitutional (germline) variants in cancer predisposition genes are present in affected individuals in all the body’s nucleic cells, as well as the cancer genome, and may therefore be inherited. These underlie inherited cancer predisposition syndromes, such as Lynch syndromeand hereditary breast and ovarian cancer syndrome.

https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/constitutional-germline-vs-somatic-tumour-variants/#clinical-example-cancer

How do we screen for bowel cancer?

POO...

In the UK Bowel cancer is a catch-all term for any cancers in the colon or rectum – sometimes called colorectal cancer. 

Faecal immunochemical testing(FIT)checking for blood in your poo – and other types of bowel cancer screening. This includes Lynch syndrome, a hereditary condition increasing the risk of certain types of cancer including bowel cancer.

https://patient.info/news-and-features/how-do-we-screen-for-bowel-cancer

OvaCare Patient Day

The programme for Ovacare Patient day this coming Sat Nov 19th in #thedeanhotelGalway.

They can’t wait to finally be back in the room with you all!

There’s still time to register on http://Ovacare.ie

Cancer Genetics – Counselling Service in Ireland?

Coming to terms with a genetic predisposition to cancer in the family can leave a person with many questions. What does this mean for me? What does this mean for my child? Will my family be affected?

Is Ireland geared up to cater for the current and future demand in this area?

Is the Profession recognised in Ireland???

Do we provide training in Ireland???

Are counsellors registered in Ireland???

This article was written in 2019…has anything changed? @donnellystephen

https://www.irishtimes.com/life-and-style/health-family/genetic-counselling-answering-the-questions-after-the-diagnosis-1.3839162

“There are just 16 genetic counsellors working publicly and privately in Ireland…. Cancer Genetics Service at St James’s Hospital employs three trained genetic counsellors…..”

Has

Diagnosis and management of Lynch syndrome

Testing for Lynch Syndrome in all new diagnoses of colorectal or endometrial cancers is now recommended in the UK, and gastroenterologists can offer ‘mainstreamed’ genetic testing for LS to patients with cancer.

Because LS results in a high lifetime risk of colorectal, endometrial, gastric, ovarian, hepatobiliary, brain and other cancers, the lifelong care of affected individuals and their families requires a coordinated multidisciplinary approach.

Interventions such as high-quality 2-yearly colonoscopy, prophylactic gynaecological surgery, and aspirin are proven to prevent and facilitate early diagnosis and prevention of cancers in this population, and improve patient outcomes. 

A personalised approach to lifelong gene-specific management for people with LS provides many opportunities for cancer prevention and treatment which we outline in this review.

https://fg.bmj.com/content/13/e1/e80

FIT for Lynch Study

This research study is currently being offered in
several NHS Trusts within England and Scotland.

Contact: fitforlynchstudy@kcl.ac.uk

I have a VUS (Variant of Uncertain Significance) Now what?

When you agree to genetic testing, you expect a yes or no answer:  yes, you have an abnormal change in a gene that increases your cancer risk, or no, you don’t. But sometimes, you might not get a clear “yes” or “no.” You might just get a “maybe.”

Are genetic variants of uncertain significance common?

Almost 20% of genetic tests identify a VUS. These tests come in different “sizes.” Some examine only a handful of genes associated with cancer at a time, while others analyze up to 80 genes. The more genes you look at, the more variants of uncertain significance you’ll find.

https://www.mdanderson.org/prevention-screening/family-history/genetic-testing.html