Blog

Lynch Syndrome: Why Upper Endoscopies and Colonoscopy Prep Save My Life

Key Takeaways
  • Genotype-informed surveillance should pair colonoscopy with upper endoscopy when MLH1/MSH2 mutations or family history elevate gastric cancer risk. 
  • Finding benign polyps during routine scopes validates intensified screening in Lynch syndrome, shifting detection upstream before malignant transformation and reducing preventable mortality. 
  • Prep tolerability improves with pre-prep dietary lightening, chilled split-dose solutions, straw use, permitted clear-liquid chasers, aggressive hydration, and broth to support IV access. 
  • Risk management extends beyond endoscopy to anxiety coping, certified genetic counseling, early-age initiation of colonoscopy (often 20s or 10 years pre-index case), and individualized aspirin chemoprevention discussions.

St. Vincent’s University Hospital launch patient-centred Endoscopy Video Series.

Topics covered in the Endoscopy Video Series include:

  • A Typical Patient Experience
  • A Typical Colonoscopy Experience
  • A Typical Gastroscopy Experience
  • Colonoscopy Preparation – Diet
  • Colonoscopy Bowel Preparation – Morning Appointment
  • Colonoscopy Bowel Preparation – Afternoon Appointment
  • Conscious Sedation
  • After your Endoscopy.

Prevention Strategies for Hereditary Gynaecological Cancer in Lynch Syndrome

At this time, there are promising emerging technologies including bio-marker-based detection using DNA methylation analysis of cervicovaginal samples, liquid biopsies and microbiome profiling that may result in less invasive and more accurate methods for early cancer detection.

https://www.linkedin.com/posts/cga-igc_did-you-miss-this-exciting-article-featured-activity-7468272808490512384-9uim?utm_medium=ios_app&rcm=ACoAABs3g3EBzKjRijqM-dZ6l7MG8TrOKYFA0ws&utm_source=social_share_send&utm_campaign=copy_link

The next wave in cancer care

The launch of The Future of Advanced Cancer Therapies in Ireland white paper at the All-Island Cancer Summit shone a spotlight on a stark reality: Ireland is producing world-class cancer innovation, yet many patients still cannot access the latest treatments.

Challenges Identified
  • Limited infrastructure and workforce capacity to deliver complex therapies.
  • High costs associated with advanced treatments.
  • Need for improved biomarker testing and precision medicine capabilities.
  • Insufficient clinical trial capacity compared with leading international centres.
  • Geographic and socioeconomic disparities in access to care. 
Recommendations
  • Accelerate patient access to innovative cancer medicines.
  • Strengthen national infrastructure for advanced therapies.
  • Expand specialist workforce training and recruitment.
  • Increase investment in cancer research and clinical trials.
  • Improve data collection and use of real-world evidence.
  • Enhance collaboration across the island of Ireland to share expertise and resources.
  • Develop long-term funding and policy frameworks to support adoption of breakthrough treatments.

My own thoughts on this are: We are great at producing reports and plans/white papers but very poor at looking at the waste within the Health System(too many administrators etc causing untold delays and waste) and ensuring that someone is responsible for delivery.

https://www.businesspost.ie/commercial-reports/the-next-wave-in-cancer-care

Minster MacNeill….Note….National Cancer Strategy…..Fail to prepare? Prepare to fail.

“Patients cannot exist in a policy vacuum, continuity, foresight, and accountability are essential components of public trust in healthcare systems.

National strategies shape not only clinical pathways, but also questions of equity, trust, access, accountability, and the lived experience of illness.

When there is no ownership, no timeline, and no transparent process for renewal, uncertainty is transferred onto patients and families already carrying immense emotional and structural burdens.” Pamela Deasy(Patient Advocate)

Why do we need a biobank and what are they?

  • A biobank collects biological samples and linked medical information from volunteers to help researchers study diseases and improve patient outcomes. 

  • Plans by St James’s Hospital to create Ireland’s largest shared medical biobank, storing patient samples and health data to support future research and treatments. 
  • The project has received about €10 million in funding from the Health Service Executive and is expected to become operational within roughly two years. 
  • Prof Colm Bergin said the aim is to combine patient data, samples and diagnostics under strong ethical and regulatory oversight to improve healthcare outcomes. 
  • Unlike many existing Irish biobanks that focus on single diseases, the new system is intended to be broad and “agnostic to condition,” potentially including all patients accessing healthcare services. 

  • Programme manager Dr Suzanne Bracken said the long-term ambition is for the facility to grow into a national or even European biobank hub by the 2030s. 
  • Doyle said she hopes wider participation will eventually contribute to cures for illnesses like leukaemia, calling the chance to help future patients “very powerful.” 

https://www.irishtimes.com/health/2026/04/27/eventually-there-will-be-a-cure-patients-donate-to-new-biobank-in-hope-of-aiding-research

The Genetic Albatross Ends With Me

Key Takeaways
  • A negative predictive test in an at-risk first-degree relative can abruptly relieve years of hyper vigilance, catastrophising, and inherited-cancer anticipatory grief. 
  • A multigenerational pattern of early-onset colorectal cancer and subsequent biliary tract malignancy illustrates the lived reality of Lynch-associated penetrance and variable tumor spectrum. 
  • Inherited phenotypic resemblance can amplify concern about unseen pathogenic variants, highlighting how identity, family memory, and genetic risk perception interact. 
  • Avoidance of lifelong colonoscopic surveillance, prophylactic interventions, and downstream costs reframes educational and life planning, particularly during major transitions such as graduate training. 
  • Equitable access to genetic counselling/testing and informed consent remains central, given divergent outcomes across families and the enduring burden for those who test positive.

Unfortunately in Ireland you may have to wait, at the moment, for up to 3 years in the Public System for a Genetic Test.

https://www.curetoday.com/view/the-genetic-albatross-ends-with-me?fbclid=IwY2xjawSA0l5leHRuA2FlbQIxMQBzcnRjBmFwcF9pZBAyMjIwMzkxNzg4MjAwODkyAAEeGq3DhW33kSmDz7ybs_AyoOZ9BOPK5nsWxsBsrv3blcx8_JnLLWszS-5Rc9w_aem_bWGFrNFEFa53qBuysjUniQ

Single Patient Record

Fragmented patient information is (in my view) the number one patient safety issue.

Who’s information is it anyway?

Ideally the Patient should be the Lead Data Controller: By default, every individual should be the controller of their own health record.

Proxy Authority: Patients should have the seamless option to grant proxy authority to their GPs or other clinical specialists if they prefer.

https://www.theguardian.com/society/2026/may/10/gps-and-hospitals-in-england-to-be-required-to-share-data-to-create-single-patient-records

Your MRI Scan — What to Expect

The Easy Peasy Guide to MRI
The complete plain-English overview for every man who has just been told he’s getting an MRI – what’s involved.