Genetic and genomic health information increasingly informs routine clinical care and treatment.
Building the capacity of the current and next generation of nurses and physicians to integrate genetics and genomics into usual clinical practice is essential if opportunities afforded by precision medicine are to be fully realised.
https://www.gimjournal.org/article/S1098-3600(21)01181-3/fulltext
An example of an inherited risk of cancer is Lynch syndrome. A person with Lynch syndrome has an elevated risk of colorectal, endometrial, stomach, ovarian, urinary tract, other intestinal cancers, and additional cancers.
The increased risk is due to a mutation in one of several genes that fix mistakes made when DNA is copied. These genes are called DNA mismatch repair genes. The body has many mechanisms that work hard to prevent DNA copying errors and protect against cancer.
When one of those mechanisms is disabled by mutations, cancer is more likely to occur and at a younger age.
Very powerful sharing from Roberta. I think Genetic Counsellors everywhere will feel humbled that your experience was empowering & led to the correct diagnosis.
Highlights how important their role is, how families should know their cancer history & have the correct screening.
Most people diagnosed with colorectal cancer are at least 65 years old, but I was only 45 when doctors discovered my cancer, which they believed had been growing inside me for at least a decade. As someone who exercises regularly and maintains a healthy diet, I was shocked by my diagnosis. My doctors and I assumed that it was simply a case of bad luck.
“as many as 10% of colorectal cancer patients have an inherited gene mutation that caused their illness. I should know, because I was one of them.”
“I’ve heard people say that they don’t want to get genetic testing because there’s no way to prevent hereditary cancer, therefore it’s better not to know. But that couldn’t be further from the truth.”
The BowelScreen programme will send an invitation to men and women aged 60 to 69 years to take part in the programme.
If you are aged between 60 to 69 years and living in Ireland, you can ring BowelScreen on Freephone 1800 45 45 55 to check your details are on the register.
A BowelScreen home test kit will be sent to you in the post with instructions about how to do the test.
If you have any concerns about your bowel health or symptoms you should contact your GP immediately.
The symptoms of bowel cancer can include:
“I had to transform my challenges into opportunities.”
The key to focus on when we are confronted with challenges is to become focused on what is possible rather than what is not.
https://www.curetoday.com/view/transforming-lynch-syndrome-limitations-into-opportunities
Dana-Farber’s Matt Yurgelun, MD, discusses Lynch Syndrome research and the challenges of a Lynch Syndrome diagnosis. Dana-Farber’s Lynch Syndrome Center offers genetic testing to help identify Lynch Syndrome carriers who may be at increased risk for a variety of cancers.
According to the HSE’s website, there is “room for improvement” in the medical genetics and genomics services offered in Ireland when compared to other European countries. (perhaps an understatement???)
The strategy states: “To date, Ireland has made some progress in developing its genetic and genomic services, with pockets of excellence evident throughout the country. However, to fully realise the benefits of genetics and genomics, there is an urgent need to mainstream them so that they can become an integral part of our routine care delivery.”
Strategies are very helpful in healthcare because a strategy gives you a sense of direction….
Provided for under this strategy is:
On the impact of the national office, Dr Henry predicted there will be a high level of activity “in year one, and the office will drive it”. He said it will “become the engine of what happens in year two, three, four, and later”.
Also, the office will “advocate” and “compete for funding each year”.
As our understanding of disease evolves, it is very clear that genomics will inform much of the decision-making
Easy….
To explain what constitutional mismatch repair deficiency (CMMRD) is, we first need to talk about Lynch Syndrome. Lynch Syndrome increases a person’s risk of getting certain types of cancer in their lifetime, including bowel cancer, which is the most common cancer associated with this genetic condition.
What is Lynch Syndrome?
Lynch Syndrome affects genes called mismatch repair genes. They are genes responsible for correcting changes in genetic code when cells grow and divide. As the cells grow and make copies of their DNA, they can make mistakes, which mismatch repair genes rectify so that those errors don’t lead to cancer. So if these mismatch repair genes are abnormal or have a “mutation”, they may not repair those mistakes and cancer can occur.
What is CMMRD?
CMMRD, like Lynch Syndrome, is a genetic condition that makes it more likely for a person to get certain types of cancer, except this time it occurs when a child has inherited mutated genes from both parents, and the cancer risk is even higher. PMS2 is the most commonly affected gene in CMMRD.
To illustrate this: If mum has one “good” copy of the gene and one bad copy, I could inherit her good gene or her bad gene. And the same goes for my dad. My sister could inherit both of their good copies, and therefore doesn’t have Lynch Syndrome or CMMRD, and neither do her children. Whereas if I inherited both of their bad genes I therefore have CMMRD.
It is thought that… As many as 1 in 300 may have Lynch Syndrome, while the odds of having CMMRD are one in a million – or 0.0001%.
Lynch Syndrome Ireland 