Author: Lynch Syndrome Ireland

When oncologists like me rain bad tidings on patients, they need one thing above all….

Anxiety is infectious. The conduct of a doctor can trigger a ripple of anxiety or inject a sense of order, even when the news is unpleasant. Bearing the scars of past illness, returning patients are especially not looking to be shielded from reality.

What they want is for someone to give bad news andremain steadfastly in their corner.

As is unfortunately the case for many, you can rain bad tidings on people but if you steer the conversation with calm, compassion and most of all, a sense of shared humanity, they will find their feet. This is the part that I have found surprising to predict and moving to absorb.

https://www.theguardian.com/commentisfree/2023/aug/16/when-oncologists-like-me-rain-bad-tidings-on-patients-calm-and-compassion-are-crucial

Cancer immune-interception in Lynch Syndrome: Neoantigen-based vaccine development (Dec. 22)

Lynch Syndrome (LS) is the most common cause of hereditary colorectal cancer and also conveys significantly increased risks for several other malignancies, including endometrial, small bowel, gastric, ovarian, adrenocortical tumors, and others.

Recent advances in next-generation sequencing and associated bioinformatic approaches are now allowing for more accurate profiling of the most frequently recurring and shared mutated neoantigens in LS-associated tumors. This allows for identification of the most immunogenic neoantigens that can be incorporated into different vaccine platforms to test the development of a population-based vaccine. 

A total of 45 participants will be enrolled to receive a prime and boost vaccination. Different secondary biomarkers will explore immunological aspects of this novel immune-interception strategy.

https://aacrjournals.org/cancerpreventionresearch/search-results?page=1&q=lynch%20syndrome&SearchSourceType=1

Introduction to Telemedicine and Digital Health-RCPI

Recently available from RCPI…https://courses.rcpi.ie/product?catalog=Introduction-to-Telemedicine-and-Digital-Health

This course is a standalone, asynchronous module which is open to all clinicians. This module will provide learners with foundational knowledge of Telemedicine and Digital Health. It is worth 5 ECTS and requires 125 hours of learning to gain the credits. 

The aim of this course is to enhance the outcomes of telemedical consultations for both patients and clinicians in Ireland. 

Learners will be covering introductory topics such as:

• Overview of telemedicine

• Overview of digital health

• Organisationl infrastructure 

• Patient perspective, accessibility, and digital literacy

• General Data Proctection Regulation (GDPR)

• Professionalism

• Communication

The role of virtual consultations in cancer genetics: challenges and opportunities introduced by the COVID-19 pandemic

There is a clear potential to mitigate geographical barriers, meet increasing patient expectations of implementing virtual consultations, reduce hospital carbon footprints, and decrease hospital costs while increasing efficiency. 

There are also significant challenges… Virtual healthcare consultations introduce another new level of digital exclusion for patients and clinicians. There are also potential challenges for maintaining patient confidentiality, and limited utility in circumstances where a physical exam may be warranted. For clinicians, there may be impacts on empathetic responses delivered and challenges in workflow and workload.

Summary: Both the opportunities and the challenges of virtual care must be considered to ensure the appropriate, successful, and long-term implementation of virtual care in cancer genetic services.

https://www.nature.com/articles/s44276-023-00009-7

Family Tree

A genetic history captures details about the health of multiple generations.

This information can be important in diagnosing an inherited condition, revealing a pattern of inheritance, and informing clinical decisions regarding testing and management.

Navigating the Dual Nature of Social Media: A Patient Advocate’s Guide

The key to navigating the social media landscape successfully is knowing how to leverage the positives and stay vigilant about the negatives.

Online harassment, misinformation, and divisive behavior have become all too common. This harmful behavior can negatively impact both advocates and the causes we strive to support.

As advocates, we set the tone for the communities we work with. We can inspire and uplift others by cultivating an environment of respect, empathy, and support. Especially in a world that sometimes feels divided and polarized, cultivating kindness and understanding becomes even more important. Let’s work together to make the online world a better place, where compassion and understanding prevail, and where our collective efforts lead to meaningful change.

https://powerfulpatients.org/?p=54248#top

What is a Biomarker?

A biomarker (also called a biological marker) is a piece of information about your health. Biomarkers include your blood pressure, your blood type, and cholesterol or blood sugar levels measured in a blood test. The biomarkers of cancer are also known as tumor markers. Biomarkers can tell your medical team important information about you and your cancer.

Why are biomarkers important?

Colorectal cancer biomarkers can provide your medical team vital information about you and your cancer that is used to determine prognosis, guide treatment decisions, monitor treatment response, and look for recurrence after treatment. Biomarkers are also used in drug development to create and test targeted therapies for colorectal cancer.

Biomarkers of hereditary colorectal cancer

The biomarkers that can confirm hereditary colorectal cancer are the DNA mismatch repair genes causing Lynch Syndrome, and the genes causing Familial Adenomatous Polyposis (FAP) and associated syndromes. Lynch Syndrome is caused by mutations in MLH1, MSH2, MSH3, MSH6, EPCAM, or PMS2 genes, while FAP and other polyposis syndromes are caused by mutations in APC, MYH, BMPR1A, and SMAD4.

https://www.knowyourbiomarker.org/what-is-a-biomarker?utm_source=organic-social&utm_medium=twitter&utm_campaign=KYB_What_is_a_Biomarker

From diagnosis of colorectal cancer to diagnosis of Lynch syndrome: The RM Partners quality improvement project

The UK National Institute for Health and Care Excellence recommends universal testing for Lynch syndrome (LS) in all newly diagnosed colorectal cancer (CRC) patients. However, implementation varies significantly by geography. This project was developed to measure variation and deliver an effective diagnostic pathway from diagnosis of CRC to diagnosis of LS (within the RM Partners (RMP) West London cancer alliance).

Conclusion

The LS project was completed by April 2022. We have implemented a systematic approach with workforce transformation to facilitate identification and ‘mainstreamed’ genetic diagnosis of LS. This work has contributed to the development of a National LS Transformation Project in England which recommends local leadership within cancer teams to ensure delivery of diagnosis of LS and integration of genomics into clinical practice.

Health Innovation Hub Ireland

Health Innovation Hub Ireland (HIHI) was established by the Department of Business, Enterprise and Innovation and the Department of Health and is supported by Enterprise Ireland (EI) and the Health Service Executive (HSE) to drive collaboration between the health service and enterprise.

We offer companies the opportunity for pilot and clinical evaluation studies, and we provide the health service access to innovative products, services, and devices that they may not otherwise be exposed to.

HIHI is built on the recognition that collaboration with enterprise can benefit patient care, patient pathways and outcomes.

Case Studies

So why do people not get tested?

Experts say that millions of people are walking around with a genetic variant that raises their risk of developing cancer. The vast majority of them have no clue.

That’s a problem, because people who know they’re at a higher risk for certain cancers can take action, like going for more frequent screening tests such as colonoscopies and mammograms or even having preventive surgeries.

“Doctors are not up on this”

Asked why so few people get tested, both researchers and patients say that “many cancer doctors aren’t familiar with the latest research on inherited risk or that they don’t know the cost of testing has dropped”

https://www.npr.org/sections/health-shots/2023/08/02/1191419631/cancer-risk-test-genetic-genes-inexpensive-why-dont-more-people-get-tested