Tag: science

“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.

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.

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

“For many cancers, Ireland is now 1-2 standard-of-care innovations in cancer treatment behind international comparators”

It seems to me that this headline quotation from Prof Barry of the @INFO_NCPE likely has taken him out of context in relation to Anti-Cancer Drugs.

Let me try to help make sense of this:

1. The only public funding that has gone into anti-cancer drug discovery and development that I am aware of over the past 10 years in Ireland, is funding to commercialise academic discoveries. The commercialisation of drug discovery and development is a strategic, deliberate government policy.

2. When a commercial company is successful in demonstrating that a drug improves cancer outcomes, these companies are legally obliged to maximise profit for the company’s shareholders (as far as I understand, maybe I’m wrong here).

3. The rate at which new anti-cancer drugs that objectively improve cancer outcomes achieve regulatory approval (by the EMA or FDA) is accelerating.

4. To continue to offer to public cancer patients the international standard of care (eg NCCN or ESMO recommended) anti-cancer therapies is by definition going to cost public cancer care providers more money. This is how the whole system is deliberately designed.

5. EMA approval does not guarantee an impact on the “standard of care”. For an oncologist to prescribe any high cost anti-cancer therapy in public hospitals in Ireland, first, the pharmaceutical company must apply to the @HSELive to have their drug reimbursed. Many companies do not even apply. Next, they must commit to a reimbursement process that takes 2-3 years, with no guarantee of a successful reimbursement outcome.

6. As long as I have worked for the HSE, the prescribing options available to public Medical Oncologists have been robustly restricted to drugs that have been approved through this reimbursement process.

7. No public consultant has the authority or ability within the existing system to ‘authorise’ expenditure for any high cost anti-cancer drug by signing a prescription, unless the HSE has explicitly authorised this prescription. The authorisation status is publicly available here: https://hse.ie/eng/services/list/5/cancer/profinfo/chemoprotocols/

8. If I tried to prescribe a high cost anti cancer drug that hadn’t been through the HSEs reimbursement process, it would not make it past the hospital pharmacist. In any publicly funded hospital.

9. For many cancers, Ireland is now 1-2 standard-of-care innovations in cancer treatment behind international comparators. In other words, for a long time now, the HSE has had total control over what a consultant oncologist can prescribe within the HSE. The problem is that the approval of emerging therapies is too slow, and not keeping pace with international standards, or with the private healthcare sector in Ireland.

@IMT_latest @med_indonews @hseNCCP @OECI_EEIG @IrishCancerSoc @INFO_NCPE