Category: Research

Artificial intelligence in clinical genetics

Artificial intelligence (AI) has been growing more powerful and accessible, and will increasingly impact many areas, including virtually all aspects of medicine and biomedical research. 

Overall, while the precise speed at which AI will continue to change clinical genetics is unclear, as are the overall ramifications for patients, families, clinicians, researchers, and others, it is likely that AI will result in dramatic evolution in clinical genetics.

It will be important for all those involved in clinical genetics to prepare accordingly in order to minimize the risks and maximize benefits related to the use of AI in the field.

https://www.nature.com/articles/s41431-024-01782-w#Abs1

Health Research Charities Ireland(HRCI)

Health Research Charities Ireland (HRCI) is the national umbrella organisation of charities engaged in health, medical and social care research, collectively representing over 2 million people in Ireland. We champion our members’ interests, to enhance the environment for health research in Ireland. We empower them to realise our shared vision of improving lives through impactful research.
We offer our members the potential for matched research funding through the Joint Funding Scheme, run in partnership with the Health Research Board. We also run the Irish Health Research Forum, bringing together all stakeholders to improve health research in Ireland.
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Uptake and patient-related outcomes of mainstreaming genetic testing: a systematic review and meta-analysis

Mainstreaming genetic testing refers to genetic testing for cancer susceptibility genes following cancer diagnosis, which is provided by nongenetic health professionals of the cancer-treating team.

Mainstreaming can be used to guide cancer treatment and secondary cancer prevention in the patient and to identify carriers in the family members of patients who test positive through cascade testing. We aimed to assess uptake and patient-reported outcomes of mainstreaming genetic testing.

Conclusion

Mainstreaming genetic testing uptake is associated with high uptake and satisfaction and low decision conflict, regret, and post-test distress. Quality and quantity of evidence across different types of cancers vary significantly.

https://www.ajog.org/article/S0002-9378(25)00259-5/abstract

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

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.

Menopause, Diet and Cancer

This resource is designed to offer practical, evidence-based guidance on how dietary and lifestyle choices can alleviate menopausal symptoms and enhance overall well-being during this unique phase of life. Cancer treatments can sometimes trigger a sudden, intense menopause, often leading to more severe symptoms than those of natural menopause. For some, these symptoms are manageable, while others may find them overwhelming, impacting quality of life.

This book provides support and strategies, covering nutrition and lifestyle modifications to help ease these challenges.

https://www.cancer.ie/menopauseplate

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.

https://link.springer.com/article/10.1186/s12876-025-03976-y?utm_source=rct_congratemailt&utm_medium=email&utm_campaign=oa_20250515&utm_content=10.1186%2Fs12876-025-03976-y

Evaluation of user experiences, perceptions and attitudes towards faecal immunochemical testing (FIT) for risk-stratified colonoscopy in people with Lynch syndrome

Objective: This study evaluates the experiences, perceptions, and attitudes of people with Lynch syndrome (LS) towards faecal immunochemical testing (FIT) as an adjunct to colonoscopy for colorectal cancer surveillance.

Conclusions: FIT is widely perceived as an acceptable supplemental tool among surveyed people with LS, who appreciate its potential to reduce intervals between colonoscopies without compromising surveillance quality.

Ongoing patient engagement is crucial to addressing concerns about FIT’s reliability. Future research should evaluate long-term outcomes and explore diverse population perspectives to guide FIT implementation in LS surveillance.

https://bmjopengastro.bmj.com/content/12/1/e001751