Category: Genetic Testing

Molecular Tumour Board

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.

Molecular Tumor Board

The role of the Genetic Counsellor in the multidisciplinary team: the perception of geneticists in Europe(2022)

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

Anticipation in families with MLH1-associated Lynch syndrome

Individuals who have MLH1 PVs have high lifetime risks of colorectal cancer (CRC) and endometrial cancer (EC). There is controversy regarding whether a younger age at diagnosis (or anticipation) occurs in MLH1-associated LS. The objective of this study was to assess anticipation in families with MLH1-associated LS by using statistical models while controlling for potential confounders.

Conclusions

The current results demonstrated evidence in support of anticipation in families with MLH1-associated LS across all statistical models. Mutational effects on Mlh1 activity influenced the hazard for CRC/EC.

https://acsjournals.onlinelibrary.wiley.com/doi/10.1002/cncr.35589

Lynch syndrome diagnostic testing pathways in endometrial cancers: a nationwide English registry-based study

Background: For female patients with Lynch syndrome (LS), endometrial cancer (EC) is often their first cancer diagnosis. A testing pathway of somatic tumour testing triage followed by germline mismatch repair (MMR) gene testing is an effective way of identifying the estimated 3% of EC caused by LS.

Conclusion: This analysis highlights the regional variation in recorded testing, patient attrition, delays and missed opportunities to diagnose LS, providing an informative baseline for measuring the impact of the national guidance from the National Institute for Health and Care Excellence on universal reflex LS testing in EC, implemented in 2020.

https://jmg.bmj.com/content/early/2024/10/21/jmg-2024-110231

Laois rural artist urges people to mind their language on illness

Whether it’s the metaphor of ‘battling cancer’ or the image of ‘frontline workers’ during the pandemic, the author contended that metaphors distort our way of thinking since neither cancer nor Covid are stages of war.

“I have a predisposition to cancer as I carry a gene which is called Lynch Family Syndrome.

“Basically my body cannot detect that cancer is growing in the first place so it very quickly escalates to a grade 4 and because it cannot recognise the disease, it also can’t repair it without help.

“I’m lucky that I know my body well and that I can present myself in time to doctors who have the expertise and modern medicines to reverse the tumour growing.”

“Participating made me look at the psychological effect years after diagnosis. Themes of loneliness, isolation, fear, self-blame, anger and disassociation were explored.

Laois rural artist urges people to mind their language on illness

Genetic Counselling

Genetic counselling is a dynamic and rapidly growing field.

The Ministry of Public Health in Qatar has recently introduced national registration regulations for genetic counsellors in Qatar, officially recognising the genetic counselling profession.

The recognition of the genetic counselling profession is marked as a significant achievement for Qatar toward the protection and future expansion of the profession.

Qatar recognised the importance of incorporating genetic counselling services into its health care system to empower individuals and families with the knowledge needed to make informed decisions about their genetic health.

https://www.sciencedirect.com/science/article/pii/S2949774424010124#sec2

THE UNMET NEED IN CANCER GENETIC SERVICES(2021)

This one of the recommendations of this report:

Implement a hub and spoke model with genetics expertise within the dispersed oncology system.

Genetics needs to be formally integrated into the cancer treatment pathway with uniform access to genetic testing, molecular tumour boards and access to genetics expertise and support at the point of care for both patients and their clinicians.

Where are we at now?

Click to access Conducting%20an%20environmental%20scan%20of%20the%20cancer%20genetics%20services%20Report%202021.pdf

Lynch syndrome – Will I develop cancer?

Unfortunately, cancer is common, and in the majority of cases is not inherited. As many as 1 in 2 people will develop cancer in their lifetime. That is 50% of the world’s population.

Most cancers are not inherited and occur out sporadically or ‘out of the blue’.

Lynch syndrome makes certain (not all) cancer types more likely to develop. This is due having less protection from the cancer mismatch repair genes. This doesn’t mean that you will definitely develop cancer, but having less protection makes it more likely.

The way Lynch syndrome behaves in you and your family can be very different as the affected Lynch syndrome genes interact with other genes as well. Family history should be taken into consideration, but each family member will be affected differently.

Will I develop cancer?

What increases my risk of uterine (womb) cancer?

The cause of uterine (womb) cancer is unknown. But there are certain things called risk factors that can increase your chance of developing the disease. These include:

  • Age: It is more common in women after the menopause between the ages of 50 and 64.
  • Being overweight: If you are overweight, your risk of uterine cancer is increased.
  • Hormone replacement therapy (HRT): If you are taking oestrogen-only HRT for a long time after the menopause, your risk of uterine cancer is slightly increased.
  • Family history: Family history of uterine cancer in a first degree relative (mother, sister, daughter). If you have an inherited faulty gene, it raises your risk of developing uterine or bowel cancer. In a small number of families, this faulty gene can cause a condition called Lynch Syndrome .
  • No pregnancies: If you have not had children or never been pregnant, your risk of uterine cancer is increased.
  • Polycystic ovaries: If you have polycystic ovaries, your risk is increased. This is a condition where cysts grow in the ovaries.
  • Menstrual history: If your started your periods early in life and / or started your menopause later, your risk is higher. 

https://www.cancer.ie/cancer-information-and-support/cancer-types/uterine-womb-cancer/what-increases-my-risk-of-uterine-womb-cancer

Lynch Choices

  • Lynch syndrome (‘Lynch’) is an inherited condition that increases the chance of developing certain cancers. The type of cancer depends on the genes involved.
  • This website helps people with Lynch to make choices that are right for them. It is designed to be used with support from the genetics service, GPs, healthcare teams in the community, charities and patient groups.
  • If you are concerned about Lynch but have not been diagnosed, please speak to your GP or genetics service.
  • Each session helps you think about your choices at home, so you are ready to talk through your choices with a GP, genetics or other specialist.

https://canchoose.org.uk