In Our Scope of Practice: Genetic Risk Assessment and Testing for GI Cancers and Polyposis in Gastroenterology

 Uptake of genetic testing remains underutilised. 

This is a missed opportunity to identify patients and family members who could benefit from genetic testing to diagnose cancer susceptibility syndromes for which surveillance and preventive interventions exist.

Barriers for integration of genetic testing in routine practice include:

lack of awareness about genetic conditions by patients and providers,

concerns about genetic testing costs and implications for insurability,

challenges in implementing algorithms for risk assessment and coordinated care in complex medical systems.

This review addresses current evidence and guidelines for cancer risk assessment, genetic testing and management to enable GI clinicians to identify and care for individuals with genetic cancer-predisposition syndromes in routine practice.

https://www.gastrojournal.org/article/S0016-5085%2825%2900841-8/abstract

Access to oncology medicines in EU and OECD countries

Ensuring equal access to the latest cancer medicines is one of the most pressing challenges facing OECD health systems today.

Despite the emergence of new oncology drugs, disparities in patient access—particularly through clinical trials and early access programs—remain a critical issue.

Rising costs are also straining even the most affluent healthcare systems, making affordability a concern for all.

This working paper examines various aspects of inequalities in access to cancer medicines, covering key stages in a medicine’s life cycle, from marketing authorisation to reimbursement decisions and uptake in clinical practice.

The analysis draws on original findings from the 2023 OECD Policy Survey on Cancer Care Performance. It also explores potential strategies to stimulate competition among oncology medicine producers, which could create significant budget headroom, allowing reinvestment in new cancer medicines that offer substantial clinical benefits to patients.

https://www.oecd.org/en/publications/access-to-oncology-medicines-in-eu-and-oecd-countries_c263c014-en.html

National Cancer Registry Ireland

NCRI collects information on the diagnosis and primary treatment of the patient’s cancer. Data is collected on primary treatments that take place within approximately 12 months of diagnosis. 

Between 85% and 90% of all new tumour registrations are registered electronically from pathology reports shortly after the patient’s diagnosis. Other electronic data sources such as HIPE(collects demographic, clinical and administrative data on discharges from, and deaths in, acute public hospitals nationally), radiotherapy and death certificates may also create a small number of new tumour registrations.

One of the primary ways to share NCRI data is through reports and publications. These reports compile the latest statistics and analyses, and highlight many topics including:  

  • emerging cancer trends
  • the effectiveness of prevention and treatment initiatives
  • cancer disparities
  • areas where prevention efforts are needed  

These reports provide stakeholders with the necessary insights to guide decision-making. 

https://www.ncri.ie/en/data-collection/the-data-journey/the-patient

What Joe Biden’s cancer diagnosis means for the rest of us

When someone hears those words, you have cancer, her world is turned up-side-down, in more ways than one. As is her family’s. I won’t say a cancer diagnosis is necessarily the most horrible thing any person can experience, medically speaking or otherwise, but it’s right up there, that’s for sure.

Once a cancer reaches stage 4, it’s not curable. Treatable, yes. Curable, no. 

This is not to say staying positive and fighting hard do not matter. Of course, they do. But cancer outcome is not determined by how hard you fight or how much smiling you do. Cancer isn’t an opponent in some war game you can stomp out with mindset or determination. And a positive attiude—not always doable. Cancer patients don’t need the added pressure to always fight and always stay positive. What does that even mean anyway? It sounds exhausting because it is.

Recent Advances in Lynch Syndrome Diagnosis, Treatment and Cancer Prevention

Conclusion:

The identification and management of individuals and families with Lynch syndrome has evolved rapidly during the past decade or so. Advances in molecular testing and NGS technologies now allow all patients with colorectal and endometrial cancers to reliably receive screening for underlying Lynch syndrome, whereas innovations in immuno-oncology promise to continue revolutionising the treatment of Lynch-associated cancers.

To continue moving the needle forward, expanded efforts to diagnose Lynch syndrome in healthy, cancer-free individuals are needed, rather than relying on the identification of Lynch syndrome through a new cancer diagnosis.

Identification of Lynch syndrome offers the potential to prevent cancer-related morbidity and mortality, and continued progress in understanding the immune system’s ability to recognize, eradicate, and intercept Lynch-associated neoplasia offers many intriguing possibilities for immune-based primary cancer prevention.

https://ascopubs.org/doi/10.1200/EDBK_208341

Precision Medicine

For decades, genetic testing was rationed, reserved only for patients who fit narrow, outdated clinical guidelines. But what happens when those guidelines leave countless people at risk?

In this episode, clinical geneticist and medical innovator Dr. Ed Esplin of LabCorp Genetics reveals how his team’s groundbreaking research exposed the flaws in restrictive testing policies. Through rigorous studies in breast cancer, colorectal cancer, and beyond, they proved that universal germline genetic testing identifies far more at-risk patients than guidelines ever predicted and fundamentally changes how we treat and prevent disease.

The data has forced a reckoning: when up to “50% of high-risk patients were being missed”, “standard of care” was anything but standard care.

From community oncology clinics to rare disease diagnostics, he makes the case that access to genetic insights should be driven by evidence, not just eligibility criteria.

Clinical challenges and patient experiences in early-onset colorectal cancer: insights from seven European countries

Results

Participants highlighted several key challenges, including low awareness of CRC symptoms among younger populations, diagnostic delays linked to age and gender biases, and limited access to age-appropriate support services. Many participants reported significant quality-of-life (QoL) impacts related to disrupted careers, intimacy issues, and challenges managing family responsibilities during treatment. Psychological support, physiotherapy, and nutritional counseling were inconsistently available, with significant disparities across public and private healthcare systems.