The four primary care (PC) core functions (the ‘4Cs’, ie, first contact, comprehensiveness, coordination and continuity) are essential for good quality primary healthcare and their achievement leads to lower costs, less inequality and better population health. However, their broad definitions have led to variations in their assessment, in the innovations implemented to improve these functions and ultimately in their performance.
Providing clear, well-defined operational elements for these 4Cs to measure their achievement and improve the way they function, and identifying the complex network of interactions among them, should contribute to the field in a way that supports efforts at practice innovation to optimise the processes and outcomes in PC.
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:
the creation of a new national office for genetics and genomics
the transition of genetics and genomics into routine care delivery
targeted workforce planning and development
ensuring Public and Patient Involvement (PPI) and partnership
the strengthening of Ireland’s infrastructure to drive advances in this area.
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
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%.
The current study found low CRC mortality in path_MMR carriers who receive colonoscopy surveillance while some extracolonic cancers were associated with high mortality. Further improvement of survival in LS may require a focus on the prevention and treatment of non-colorectal cancers, likely including approaches based upon the immune response to MSI pre-cancerous lesions and cancers.
This study also provides more precise cumulative cancer incidences for path_MMR carriers than have been available previously, stratified by age, gene, organ, and gender.