MyLynch, a patient-facing clinical decision support(CDS) web application that applies genetically-guided personalised medicine(GPM) for individuals with Lynch syndrome.
As genetic panel testing becomes more widely available, GPM will play an increasingly important role in patient care, and CDS tools offer patients and providers tailored information to inform decision-making.
MyLynch provides personalised cancer risk estimates and interventions to lower these risks for patients with LS.
“Mainstreaming” is a proposed strategy to integrate genomic testing into oncology. The aim of this paper is to develop a mainstreaming oncogenomics model by identifying health system interventions and implementation strategies for mainstreaming Lynch syndrome genomic testing.
https://pubmed.ncbi.nlm.nih.gov/37305562/
Lynch syndrome affects approximately 1 in 400 individuals and predisposes to multiple cancers including colorectal, endometrial, gastric, small bowel and other tumours. Although a common condition, it is estimated that only 5% of patients with LS are known in the UK.
Lifelong care of people diagnosed with this condition depends on awareness of who this population is.
There is consistent evidence of the cost-effectiveness and clinical benefit of a structured diagnostic pathway in patients with LS following a diagnosis of cancer linked to cascade testing in families.
Barriers to diagnosis and a manifest deficiency in care for those with LS has been described in the literature as a ‘diffusion of responsibility’.
An approach to deliver effective diagnosis is to develop ‘mainstreaming’ models whereby patients are offered constitutional genetic testing by their cancer treating teams locally, rather than relying on referral of eligible patients to tertiary services such as clinical genetics.
This has many possible advantages including shorter timescale to diagnosis, effective communication provided through an existing relationship between patients and their clinical teams, and ensuring that eligible patents access testing. This model is associated with high levels of acceptability for patients and clinicians, however relies on the development or new skills by cancer teams.
https://www.bsg.org.uk/clinical-resource/(sss)-english-lynch-syndrome-project
Lynch syndrome is a dominantly inherited cancer syndrome caused by germline pathogenic variants of mismatch repair (MMR) genes. In women with LS, gynaecological cancers are as common as gastrointestinal cancers.
Gynaecological cancer is often the first cancer diagnosis in women with Lynch syndrome.
Reimbursement of new cancer meds is an area where Ireland is increasingly falling behind. Are they expensive? Yes. Is every new ‘innovative’ drug worth its price tag in terms of real world outcomes? No. It’s complex. But now there’s a growing public vs private access divide. @PriscellaLynch
Very informative thread…. https://x.com/mccarthymt7/status/1853202348484747502
“List of anti-cancer drugs that are approved by the HSE for the treatment of endometrial cancer in Ireland. Except for dostarlimab. The protocol was included here on the basis of EMA approval and to offer guidance to private hospitals, where the drug is available for this indication. Probably.”
“Summary: Dostarlimab is very effective in treating advanced dMMR endometrial cancer. The public healthcare system in Ireland cannot afford this drug for public cancer patients (it has been fully assessed by the HSE reimbursement process and declined). Private cancer patients can access this treatment. In public hospitals we instead will continue to use less effective therapies, that are not EMA approved.”
LS-related tumours are characterised by a highly immunogenic tumour-environment that can be targeted by specific immune checkpoint inhibitors.
Your biomarker profile can help you and your doctor personalise your treatment.
Biomarkers for colorectal cancer are used for diagnosis, progression, prognosis, and for treatment planning.
MSI-H and MSS biomarkers indicate the stability of the DNA in a tumour.
Colorectal cancer tumours are often referred to as having an “MSI status,” meaning they are described as either MSI (microsatellite instable) or MSS (microsatellite stable). They cannot be both.
Approximately 15% of colorectal tumours are MSI-H and dMMR.
In most of these cases, the mutation was caused by a non-hereditary(somatic) gene abnormality in one of the MMR genes (MLH1, MSH2, MSH6, or PMS2) in a cancer cell.
In 3-5% of colorectal patients, dMMR and MSI-H are caused by Lynch syndrome. In these patients, a hereditary mutation (germline mutation) in one of the four main MMR genes is passed from one generation to another. Individuals with Lynch syndrome are at higher risk of developing colorectal, endometrial (uterine), gastric, ovarian, and other cancers.
Molecular Tumour Boards (MTBs) are a specific type of multi-disciplinary tumour board meeting in which anonymized patient cases are discussed based on the patient’s clinical information and genetic sequencing reports.
Their vision is to change the way cancer patients in Ireland are treated building on a Molecular Tumour Board.
By fostering collaboration on cancer treatment decisions among Irish clinicians with support of national and international experts from the medical and scientific community, the MTB is driving the transition towards precision oncology and personalised healthcare.
2019: A systematic review of 10 189 publications was undertaken to develop 67 evidence and expert opinion-based recommendations for the management of hereditary CRC risk. Ten research recommendations are also prioritised to inform clinical management of people at hereditary CRC risk.
To provide a clear strategy for the management of people at hereditary risk of colorectal cancer (CRC), which includes diagnosis, endoscopic management, prevention and surgical care.
Genetics has begun to be considered a key medical discipline which can have an impact on everyday clinical practice. Therefore, it is necessary to understand what the most effective way is of caring for people affected by or at risk of genetic disorders.
This new profession has difficulties in being recognised in some countries(including Ireland), it seems clear that these highly competent professionals are essential for in-patient care and in the multidisciplinary team.
In the United Kingdom clinical geneticists are medically qualified Members/Fellows of the Royal College Physicians or equivalent, where Clinical Genetics is an affiliated medical specialty. Genomic or genetic counsellors are allied health professionals with Masters level accreditation from the Genetic Counsellor Registration Board included in the Academy for Healthcare Science register and clinical scientists (genomic counselling specialty) accredited by the Health and Care Professions Council. https://www.nature.com/articles/s41431-022-01214-7/figures/1
This research(although limited) brought to light the importance of the multidisciplinary team in caring for patients with or at risk of genetic disorders by highlighting the role and necessity of the genetic counsellor within the team.
https://www.nature.com/articles/s41431-022-01189-5?fromPaywallRec=false
It is so important to be vigilant for changes in your body that might be signs of cancer, BUT – it is not your fault if you get cancer, and feeling guilty about not “doing everything right” to prevent it can break people’s souls. @SarahFitzWiMIN
In addition to supports from the Irish Cancer Society and the support of her medical team, Nollaig has found great support through social media. “I came across a Facebook group of women at all different stages of triple negative breast cancer. Rather than reading up on it via Google, you are hearing directly from women who have gone through what you are about to go through. You learn to see that everyone’s experience is different.
Nollaig is sharing her story to raise awareness of breast cancer, but also to call for screening to start at an earlier age.
Lynch Syndrome Ireland 