Author: Lynch Syndrome Ireland

RESEARCH PARTICIPANTS

Deciding to take part in a clinical study is an important personal decision. This section aims to help you understand more about clinical research and how you can get involved.

Clinical research is research involving humans, their bio samples (e.g. blood sample) or their data. Clinical research is carried out with the aim of improving existing healthcare for the benefit of current and future patients. 

A research study/trial can involve ‘healthy participants’ (i.e. people who do not have an underlying medical condition) but more often, studies/trials involve patients with a specific health condition that we want to study. Research studies are designed to answer specific questions on how to prevent, diagnose or treat a particular disease.

There are two main types of clinical studies: Interventional trials and Observational studies.

Research Participants

Understanding the Underutilisation of Germline Genetic Testing in Prostate Cancer

https://dailynews.ascopubs.org/do/understanding-underutilization-germline-genetic-testing-prostate-cancer

Germline genetic testing, no longer an “exceptional” test offered only to select families with multiple generations of cancer, has become the standard of care for many cancers, including prostate cancer. It is imperative that patients be offered timely testing, as positive results may inform shared patient–physician decision-making for regulatory-approved therapies. 

Key Points:

  • Indications for and implications of germline testing in patients with prostate cancer have expanded over the past decade, particularly related to precision therapies and management.
  • Germline testing for prostate cancer is vastly underused despite many patients qualifying for testing.
  • It is imperative that a variety of well-studied genetics service delivery models be used to help overcome recognized barriers to the implementation of germline testing for prostate cancer so that patients and their families receive the most effective care.

Be aware of gene changes and cancer in your family and take part in screening to reduce your risk of cancer.

https://www.cancer.ie/cancer-information-and-support/cancer-types/bowel-colorectal-cancer/lynch-syndrome

Constitutional MLH1 Methylation Is a Major Contributor to Mismatch Repair–Deficient, MLH1-Methylated Colorectal Cancer in Patients Aged 55 Years and Younger

“When patients with Lynch syndrome—whose first cancers generally appear at an early age—aren’t diagnosed promptly, they don’t get appropriate follow-up or surveillance. They can go on to have multiple different cancers before they are finally diagnosed. If we could identify them when they have their first cancer, we could prevent additional cancers—or at least detect them earlier,” said Megan Hitchins, PhD, director of Translational Genomics in the Department of Biomedical Sciences at Cedars-Sinai and lead author of the study.

Study Finds Younger Patients with Lynch Syndrome Often Undetected by Current Guidelines

https://jnccn.org/view/journals/jnccn/21/7/article-p743.xml

Researchers believe personalised medicine and vaccines are probably the next big thing in the quest to reduce cancer deaths

The next big advance in cancer treatment could be a vaccine that can shrink tumours and stop cancer from returning, US experts have said.

More than ever, scientists understand how cancer hides from the body’s immune system. Cancer vaccines, like other immunotherapies, boost the immune system to find and kill cancer cells. Some new ones use mRNA, which was developed for cancer but was first used for Covid-19 vaccines.

People with the inherited condition known as Lynch syndrome have a 60 per cent to 80 per cent lifetime risk of developing cancer. Recruiting them for cancer vaccine trials has been remarkably easy, said Dr Eduardo Vilar-Sanchez of MD Anderson Cancer Centre in Houston, who is leading two government-funded studies on vaccines for Lynch-related cancers.

https://www.irishtimes.com/business/innovation/2023/07/06/cancer-vaccine-research-has-reached-turning-point-experts-say/

Referral challenges for early-onset colorectal cancer: a qualitative study in UK primary care

Aim: To explore awareness of the increasing incidence of EOCRC, and to understand the potential barriers or facilitators faced by general practitioners (GPs) when referring younger adults to secondary care with features suspicious for EOCRC.

Results: Three main themes were identified regarding awareness, diagnostic and referral challenges amongst participating GPs. Awareness challenges focused on perceptions of EOCRC being solely associated with hereditary cancer syndromes and colorectal cancer being a condition of older adults. Key diagnostic challenges centred around the commonality of lower gastrointestinal complaints and overlap in EOCRC symptoms with benign conditions. Restrictions in age-based referral guidance and a GP ‘guilt complex’ surrounding over-referral to secondary care summarised the referral challenges. Young women were perceived as being particularly disadvantaged with regards to delays in diagnosis.

Conclusion: This novel research outlines potential reasons, from a GP perspective, for the diagnostic delays seen in patients with EOCRC and highlights many of the complicating factors that contribute to the diagnostic process.

https://pubmed.ncbi.nlm.nih.gov/37433643/ (Note 17 GPS involved)

A Safety and Efficacy Comparison of a New Sulfate-Based Tablet Bowel Preparation Versus a PEG and Ascorbate Comparator in Adult Subjects Undergoing Colonoscopy (2020)

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7864663/

(515 participants)

RESULTS:

A high rate of cleansing success was seen with OST(Oral sulfate tablets) (92%), which was noninferior to PEG-EA(Polyethylene glycol-electrolyte solution) (89%). Only a small proportion of subjects rated their expected gastrointestinal symptoms as severe (<5% for both preps). No clinically significant differences were seen between preps for chemistry and hematology parameters. No serious adverse experiences were reported with OST.

DISCUSSION:

Sulfate tablets achieved a high level of cleansing in the study, comparable with US FDA–approved preps. OST was noninferior to PEG-EA in this study and achieved significantly more Excellent preps overall and in the proximal colon. The OST prep was well-tolerated, with a similar rate of spontaneously reported adverse experiences to PEG-EA and a low rate of severe expected gastrointestinal symptoms.

Normal Human DNA Variation – Variant of Unknown Significance (VUS)

A short animation from Dr Sally Ann Lynch explaining Variants of Unknown Significance in medical genetics. (2018)