Tag: health

“Tell your family” sounds straightforward. But in practice, it’s usually a bit more complicated…..

We don’t talk nearly enough about WHO is responsible for sharing genetic test results with family members.

While one person may undergo genetic testing, this information affects the entire family.

How we communicate that information matters.

This responsibility usually falls on the proband (the person who undergoes genetic testing first). But every family is different.

🔸 What if you’re still trying to process the result yourself?
🔸 What if you’re estranged from the person who needs to know?
🔸 What if someone else in the family is closer to the person you need to share with?

Primary burden: Patients are generally expected to pass on health and risk details to at-risk relatives.
Healthcare provider assistance: Doctors and genetic counsellors frequently supply family communication letters or record copies to make sharing easier.

Even at the best of times, family dynamics can be tricky (and not just around the holidays!). Now throw in the decision to have genetic testing, receiving powerful results, and having the responsibility of relaying those results to your family members. You guessed it – it can get complicated. The issues that can come up when sharing genetic test results have the potential to throw off any family. And with good reason: genetic test results are intensely personal. These results can change everything, as you probably already know.

Some suggestions I came across…

  • Call or meet face-to-face:  If you have a close relationship with a family member, this might be a good option
  • Send a letter or email, consider social media:  If you’re not as close with a family member, this could work. Your doctor or genetic counselor might even have examples to use, or be able to help you write this.  Social media can be an effective way to consider contacting relatives, particularly if you use direct messages (instead of public posts).
  • Give them what they need:  Your exact test result, with the gene and any mutation(s) found, is what relatives need if they want to do their own testing.
  • Be supportive, but not pushy:  Your relative may be hearing this information for the first time, which can be challenging
  • Give them space:  Time may help them digest the details
  • Offer to be available and share resources:  They might need your help to answer questions, or just to listen.
  • Don’t expect them to do what you did:  Even though they may support your decision to have testing, they may not want it themselves – and this is ok, because everyone is different

Colonic Polyp Regression After Nous-209 Cancer Immunotherapy: A Clinical Trial Case Report

https://innovationsjournals-jipo.kglmeridian.com/view/journals/jipo/9/4/article-p124.xml

What was studied: Doctors treated a patient with an experimental cancer vaccine called Nous‑209 along side pembrolizumab, a standard immunotherapy drug that works by “releasing the brakes” on the immune system so it can attack cancer.

Who it was for: The patient had a type of bowel (colorectal) cancer known as “dMMR” — a cancer with faulty DNA repair machinery. These tumours make a lot of abnormal proteins, which makes them easier for the immune system to recognise. This patient also had many benign (non-cancerous) growths, called polyps, in the bowel — some of which could eventually turn into cancer.

What happened:

  • The patient’s cancer disappeared completely on clinical assessment (a “complete clinical response”).
  • The number of benign polyps dropped substantially — something not clearly seen before with immunotherapy alone.

Why this matters: The vaccine appears to boost the immune system so strongly that it not only attacks the cancer, but also clears away pre-cancerous growths. In theory, this could:

  • Lower the chance of the cancer coming back
  • Stop new polyps forming
  • Offer a form of “immunoprevention” — using the immune system to prevent cancer before it develops

This could be especially valuable for people with dMMR cancers (such as those with Lynch syndrome) and for people with polyposis syndromes, who develop large numbers of polyps and face a high lifetime risk of bowel cancer.

Important caution: These results come from just one patient. A single case cannot prove that the treatment works reliablyor safely for others — it may have been a one-off response. Larger clinical trials and laboratory studies are needed toconfirm the findings and to understand exactly how the treatment produces these effects.

AI assistance does not improve adenoma detection in Lynch syndrome, trial finds

What was studied: Researchers tested whether adding artificial intelligence (AI) to colonoscopy helps doctors find more precancerous growths (adenomas) in people with Lynch syndrome — an inherited condition that greatly raises the risk of colorectal cancer and requires regular colonoscopy screening.

How it was done: About 750 adults with Lynch syndrome at nine specialist centres in Belgium, Germany, the Netherlands and Spain were randomly assigned to have either a standard high-definition colonoscopy or the same procedure with an AI system (CAD EYE) that flags suspicious areas on the screen in real time. The AI was also tested on its ability to tell, on the spot, whether a growth was precancerous or harmless.

What was found:

  • Adenomas were found in 34% of patients with AI vs 31% without — a difference too small to be meaningful.
  • No advantage for AI in any other measure, including flat growths, advanced adenomas, or cancers detected.
  • Procedure times (about 26 minutes) and patient comfort were the same in both groups.
  • For identifying growth types on sight, the AI performed slightly worse than the expert doctors, and both struggled with a tricky lesion type called sessile serrated lesions.
  • Safety was similar; three minor complications occurred in the AI group, none clearly caused by the AI.

What it means: In expert centres where doctors are already highly skilled and take their time, adding this AI tool didn’t improve results. Careful technique, good bowel preparation and adequate inspection time still matter most.

Important caveats: The study wasn’t designed to prove the two approaches are equivalent — only that AI wasn’t better in this setting. AI could still help in less specialised clinics where detection rates vary more, and future AI trained specifically on the subtle, flat lesions typical of Lynch syndrome might perform better.

Bottom line for patients: A high-quality standard colonoscopy at an experienced centre remains appropriate care — you’re not missing out if your clinic doesn’t use AI.

Published in The Lancet Gastroenterology & Hepatology (CADLY2 trial; first author Dr Robert Hüneburg, University Hospital Bonn).

https://news.gastro.org/issues/2026/august-2026/ai-assistance-does-not-improve-adenoma-detection-in-lynch-syndrome-trial-finds/?utm_medium=Social&utm_campaign=AGA-posts&utm_source=linkedin

Factors Associated with Adherence to Recommended Colorectal Surveillance Intervals in Lynch Syndrome

https://pmc.ncbi.nlm.nih.gov/articles/PMC13297535

What This Study Did

Researchers at the University of Pennsylvania looked at 295 people with Lynch Syndrome and reviewed nearly 1,200 colonoscopy/sigmoidoscopy procedures to understand:

  • How many people followed their recommended screening schedule
  • What factors helped or hindered people sticking to their screening plan
Key Findings
Overall Adherence Rates
  • 67.4% of individual procedures were done on time (within the recommended interval)
  • Only 31.2% of patients followed the schedule for all their procedures
  • Most people (68.8%) missed at least one appointment or delayed at least one screening
What Made People MORE Likely to Follow Their Schedule
  1. Finding cancer during previous screening — People who had previously detected colorectal cancer were much more likely to stay on schedule (9× more adherent)
  2. Being married or previously married — Married individuals were 1.7× more likely to adhere; divorced/widowed individuals were 2.3× more likely
  3. Social support appears to matter — The benefit for married/divorced/widowed people suggests that having a support network helps
What Made People LESS Likely to Follow Their Schedule
  1. Current smoking — Current smokers were 3× less likely to stick to the schedule
  2. No significant differences in age, sex, race, or insurance type
Common Reasons for Delays (When Documented)
  • Difficulty tolerating bowel preparation
  • Fear related to COVID-19
  • Missed or canceled appointments
  • Trouble scheduling or not responding to scheduling requests
Why This Matters
  • Regular screening saves lives in Lynch Syndrome by catching cancers early
  • Nearly 70% of patients had at least one delayed screening, which is concerning
  • When screening was delayed, some people developed advanced cancers (5 cancers and 10 advanced adenomas were found in delayed procedures)
Study Limitations
  • Single centre study (may not apply to all populations)
  • Diverse racial/ethnic groups and lower-income patients were underrepresented
  • Data was collected over 22 years when guidelines changed

Bottom Line

While most individual screenings happen on schedule, many Lynch Syndrome patients struggle with consistent adherence. Smokers, single people, and those without prior cancer detection need special support. Better strategies needed include easier appointment scheduling, help with bowel preparation tolerance, and reminder systems—especially in community healthcare settings.

Preventive hysterectomy and quality of life: new research highlights the need for tailored support

What was the study about?

The researchers wanted to understand how women with Lynch syndrome feel after having a preventive hysterectomy(surgery to remove the uterus, sometimes along with the ovaries) to lower their risk of womb cancer. They looked at quality of life, emotional wellbeing, menopause symptoms, sexual health, and whether women regretted their decision. 

What did they find?

The good news:

  • Most women were happy they had the surgery.
  • Very few said they regretted their decision.
  • Many reported much less anxiety about developing womb cancer after surgery.
  • Overall quality of life was generally good, especially when menopause symptoms were well managed. 

The biggest challenge:

  • Women who had their ovaries removed before natural menopause often experienced significant menopausal symptoms, such as:
    • hot flushes
    • night sweats
    • vaginal dryness
    • lower sex drive
    • mood changes
    • sleep problems
  • These symptoms were much less severe in women who used hormone replacement therapy (HRT), when it was appropriate for them. 

Did it affect sex life?

For most women, sexual function was not dramatically worse after surgery. Some experienced changes, particularly if they went into surgical menopause, but many remained satisfied with their sexual relationships, especially when menopause symptoms were treated. 

What does this mean for someone with Lynch syndrome?

The study suggests that:

  • Preventive hysterectomy can provide significant peace of mind by greatly reducing the risk of endometrial (womb) cancer.
  • The decision isn’t just about preventing cancer—it’s also about preparing for the effects of surgery, particularly if the ovaries are removed.
  • Good counselling before surgery and appropriate HRT afterwards (for women who can safely take it) can make a big difference to quality of life. 

The bottom line

The message is reassuring rather than alarming. Most women with Lynch syndrome who chose preventive hysterectomy felt it was the right decision, experienced less worry about cancer, and had a good quality of life afterwards. The main issue wasn’t the hysterectomy itself—it was managing the symptoms of early menopause if the ovaries were also removed, and HRT helped many women cope with those symptoms. 

https://www.lynch-syndrome-uk.org/post/preventive-hysterectomy-quality-of-life-study

Don’t feel bad if you’ve put it off—just do it

The article “8 Things Doctors Want You to Know Before Your Colonoscopy” (TIME, May 6, 2026) explains what to expect from a colonoscopy and aims to reduce anxiety around the procedure. 

Key takeaways

  1. Colonoscopies are important preventive screenings
    • They are one of the most effective ways to detect colorectal cancer early and can prevent cancer by finding and removing precancerous polyps during the procedure.
  2. The preparation is often the hardest part
    • Doctors say patients typically find the bowel-cleansing preparation more unpleasant than the procedure itself. A clean colon is essential because it helps doctors see abnormalities clearly. 
  3. The procedure itself is usually painless
    • Most people receive sedation or anesthesia and remember little or nothing about the exam. The colonoscopy generally takes only a short time. 
  4. You should follow prep instructions carefully
    • Diet restrictions and laxative instructions may seem inconvenient, but inadequate preparation can reduce the quality of the exam and may require repeating it. 
  5. Finding polyps doesn’t automatically mean cancer
    • Polyps are common, especially as people age. Most are benign, but removing them helps prevent some from eventually becoming cancerous. 
  6. There are risks, but serious complications are uncommon
    • Colonoscopy is considered a safe procedure, though, like any medical intervention, it carries some risks that should be discussed with a healthcare provider. 
  7. Alternative screening options exist
    • Stool-based tests and newer blood tests are available for some patients, but a positive result typically requires follow-up with a colonoscopy. Many specialists still consider colonoscopy the most comprehensive screening tool. 
  8. Don’t delay screening because of embarrassment or fear
    • Doctors emphasise that colorectal cancer is often preventable or highly treatable when caught early, and the temporary inconvenience of screening is far outweighed by its benefits. 
Bottom line

The article’s central message is that while colonoscopies have an intimidating reputation, the procedure is usually straightforward, safe, and highly effective at preventing and detecting colorectal cancer. The preparation is often the most challenging aspect, but completing screening on schedule can have major long-term health benefits.

“Could taking aspirin halve the risk of bowel cancer?”

Podcast: https://www.genomicsengland.co.uk/podcasts/could-taking-aspirin-halve-the-risk-of-bowel-cancer

1. Low-dose aspirin appears to significantly reduce bowel cancer risk in people with Lynch syndrome

2. Earlier research showed about a 50% reduction in bowel cancer

3. Lynch syndrome is a major inherited cancer-risk condition

4. Prevention is a growing role for genomics

5. Aspirin is not risk-free

6. Screening remains extremely important

7. Family testing can be life-changing

8. Scientists are still studying how aspirin works

Bottom line

The podcast’s core message is that for people with Lynch syndrome, a daily low-dose aspirin regimen could become a powerful, relatively simple way to reduce bowel cancer risk, especially when combined with genomic testing and regular screening.
It highlights how genetic knowledge can enable earlier and more effective cancer prevention.

Cancer almost killed me. We’re treating this disease all wrong

“I am a survivor of early onset rectal cancer(Age 27). Chemotherapy, radiotherapy and brutal surgery saved my life, removing my tumour along with my large intestine, bladder, prostate, rectum, pelvic floor and the base of my spine. I now live with two stoma bags and a body irrevocably changed by treatment.”

I’m confronted by an unpleasant truth: we brace for diagnosis and invest in treatments while neglecting prevention.

Prevention is often deprioritised because its benefits are delayed, less visible, and harder to measure, unlike treatment which delivers immediate, tangible outcomes.

Cancer cases are projected to rise sharply by 2050, making a treatment-focused model economically and practically unsustainable.

Up to 40% of cancers are preventable, yet most research funding is still directed toward treatment rather than prevention.

A common belief is that prevention is a weak market, as it requires convincing healthy people to take action.

This is contradicted by widespread adoption of preventive drugs like statins and Ozempic, showing people will engage when benefits are clear and tangible.

Historical failures in dietary supplement trials created lasting scepticism and made funders more risk-averse toward prevention research.

Advances in genetics, biomarkers, and technology now make targeted, cost-effective prevention strategies more feasible.

Political and media incentives favour treatment, as saving identifiable patients attracts more attention than preventing future cases.

This imbalance in visibility and incentives drives funding and policy decisions.

Reframing prevention as urgent, feasible, and scalable is essential to reduce cancer burden and protect healthcare systems.

https://www.thetimes.com/uk/healthcare/article/cancer-research-cure-prevention-scientist-oxford-fnpmzqfbr

Prospective Lynch syndrome database

A prospective Lynch syndrome database is important because it allows researchers, clinicians, and policymakers to collect and analyse long-term, standardised data on people with Lynch syndrome (LS).

(Using Chat GPT)

📌 In short: A prospective Lynch syndrome database is essential because it produces high-quality, unbiased evidence on cancer risks, surveillance effectiveness, and preventive strategies, directly improving patient care and shaping clinical guidelines.

Here are the key reasons why it matters, based only on reliable clinical and research perspectives:

  1. Natural history understanding
    • Prospective data (collected forward in time) helps clarify the true risks of different cancers (colorectal, endometrial, ovarian, gastric, etc.) in Lynch syndrome carriers.
    • It reduces biases compared to retrospective reports, which often overestimate risks due to selective reporting of severe cases.
  2. Better risk stratification
    • Different mismatch repair (MMR) gene variants (MLH1, MSH2, MSH6, PMS2, EPCAM) carry different cancer risks.
    • A prospective database helps define more precise, gene-specific and even sex-specific risk estimates, which guide personalized surveillance.
  3. Evaluation of surveillance effectiveness
    • Prospective registries allow direct measurement of how colonoscopy intervals (e.g., every 1–2 years) affect cancer incidence, stage at diagnosis, and mortality.
    • They can test whether surveillance reduces advanced cancers, enabling evidence-based guideline updates.
  4. Assessment of preventive strategies
    • Allows evaluation of risk-reducing interventions such as aspirin (e.g., CAPP2/CAPP3 trials), prophylactic surgeries, or lifestyle modifications.
    • Can help identify who benefits most from preventive measures.
  5. Improved clinical counseling
    • Physicians and genetic counselors can give patients more reliable, individualized risk information, reducing uncertainty and supporting informed decisions.
  6. Data for health policy
    • National or international databases provide evidence for cost-effectiveness of surveillance and preventive programs.
    • This supports resource allocation and insurance coverage for Lynch syndrome management.
  7. Research opportunities
    • Creates a resource for studying modifiers of cancer risk (genetic, environmental, lifestyle).
    • Enables collaboration across centers and countries for rare cancers within LS populations.

https://plsd.eu

 National Electronic Health Record (EHR)

EHR will be a digital system that holds a person’s full health and social care information in one place. It will replace paper files and local IT systems by allowing staff to record, update and access all health information in one place.

Access to digital health records has been a long-sought objective in Irish healthcare for many years.

To date(March 25), the Health Service has rolled out a number of electronic health record (EHR) systems in different sites in recent years. These include the National Rehabilitation Hospital, the National Forensic Mental Health Service, St. James Hospital, Mater Misericordiae University Hospital, roll-out across the bigger Maternity Hospitals extending EHR coverage to 70% of births nationally by the end of 2025. The National Children’s Hospital EHR deployment will be the most comprehensive EHR deployment in the state when the hospital is commissioned.

Ireland needs one digital health record for every citizen that can be access by health professionals across the service.

To achieve this, the HSE are following a three-step approach: delivering the HSE Health App, developing a National Shared Care Record (NSCR), and regional deployments of enterprise level Electronic Health Record systems that span acute and community healthcare.

HSE has completed the procurement for the National Shared Care Record (NSCR) programme and has now been mobilised, with the contract for building the NSCR technology platform awarded to EY, Better and Kainos.

The NSCR brings together healthcare information from various sources such as hospitals, GP practices, and Community care into a single place, making them available at the point of care and self-care in read only format. By having access to key healthcare information in one place means healthcare professionals will be able to make more informed, safer decisions and to focus more time on direct patient care while patients will be better informed and empowered to manage their own healthcare. 

A phased roll-out of the national shared care record is due to commence in Q4 2025 in the South-East region with University Hospital Waterford. The system will then extend to other regions from 2026 with additional information being added over time.

https://www.oireachtas.ie/en/debates/question/2025-03-04/696/