Category: Genetic Testing

Landmark national study supports use of whole genome sequencing in standard cancer care(UK)

In the largest study of its kind, scientists today report how combining health data with whole genome sequence (WGS) data in patients with cancer can help doctors provide more tailored care for their patients.

This research uncovered significant findings across different cancer types, such as: 

  • Over 90% of brain tumours and over 50% of colon and lung cancers showed genetic changes that could affect how patients are treated, guiding decisions about surgery or specific treatments they might need. 
  • In more than 10% of sarcomas, larger DNA changes, known as structural variants, were identified that can impact clinical care and treatment. 
  • In over 10% of ovarian cancers, the study pinpointed inherited risks offering crucial insights for clinical care.

The findings show the value of combining genomic and clinical data at scale to help healthcare professionals make the best treatment decisions with their patients.

https://www.genomicsengland.co.uk/news/landmark-national-study-supports-use-of-whole-genome-sequencing-in-standard-cancer-care

Lynch syndrome genetic testing

https://www.livingwithlynch.org/?pgid=jjmviqym-5f7ba0c5-13c5-4bd8-9626-936b1b444140&eType=EmailBlastContent&eId=75b8181f-ca08-42fd-beb5-4fe0452cad56

A simple test using saliva or blood to determine if there is some type of mutation that will predispose you to certain types of cancers.

Knowing your family history

Preventative screening just part of our lives….

https://www.livingwithlynch.org/?pgid=jjmviqym-35dd6489-ee19-4e0f-8db7-75935b8d5cdd&eType=EmailBlastContent&eId=75b8181f-ca08-42fd-beb5-4fe0452cad56

Coping with a Lynch Syndrome Diagnosis

What do you need to do to get yourself from getting a cancer…

Understanding what it means and educating yourself…

https://www.livingwithlynch.org/?pgid=jjmviqym-3708cacb-bb62-44dd-b6de-fdf1daf94917&eType=EmailBlastContent&eId=75b8181f-ca08-42fd-beb5-4fe0452cad56

How Holiday Conversations About Cancer Can Save Lives

Knowing your family history of Lynch syndrome can be a life-saving intervention.

Broaching the topic of family history, especially when it involves sensitive issues like cancer diagnoses, can be challenging, particularly in families with strained relationships or a history of familial dysfunction. It’s crucial to remember that discussing family history is not to dredge up painful memories or assign blame but to gain a deeper understanding of our collective past and make informed decisions about our health.

Silently plaguing our family is Lynch syndrome, a hereditary cancer syndrome that increases the risk of developing various cancers. This genetic predisposition often goes undetected, affecting approximately 1 in 279 Americans. Lynch syndrome arises from mutations in genes responsible for DNA error repair, potentially leading to tumor formation and triggering cancer.

https://www.curetoday.com/view/how-holiday-conversations-about-cancer-can-save-lives

Genetic Counsellors? are they recognised by the HSE???

They are an internationally recognised group of highly skilled healthcare professionals with training and expertise in genomic and genetic medicine and counselling skills.

Their role involves, but is not limited to, interpreting family and medical history to assess whether an inherited genetic condition may be present in a family and whether testing is appropriate. Education about inheritance, genetic testing, screening, and management.

Coming to terms with a genetic illness in the family can leave a person with many questions. What does this mean for me? What does this mean for my child? Will my family be affected?

Genetic counselling is about trying to explain the condition, how it’s inherited and explain any genetic testing results and also to ensure that people as a family understand what is happening.

Genetic counselling is embedded into some hospital departments in Ireland.

Recognition of the profession is also important…are they really recognised by the HSE???? At present, genetic counsellors in Ireland are registered in the UK or at a European level.

The Government needs to step up and fund the genomics/genetics strategy that includes provision for genetic counselling recognition, training and employment of genetic counsellors in the different mainstream models of healthcare.

Genetics is now recognised asa growing and integral part of cancer care, with a role across treatment, early detection and risk reduction.

Camidge and McVeigh Highlight the Role of the Clinical Geneticist Across Cancer Care and Research

Drs Camidge and McVeigh highlight the evolution of the clinical genetics field over time, the process of identifying pathogenic genetic variants, the difficulties of explaining genetic testing results to patients, and more.

https://www.onclive.com/view/camidge-and-mcveigh-highlight-the-role-of-the-clinical-geneticist-across-cancer-care-and-research

Lynch Syndrome? Why it’s important to know about it

Lynch syndrome is caused by an inherited mutation in one of these genes:

People with Lynch syndrome have an increased risk for colorectal, endometrial and other cancers. The cancer risk varies by gene mutation, therefore it is important for people with Lynch syndrome to know which gene mutation they have.

In the past, the risk-management guidelines were the same for people with an inherited mutation in any of the Lynch syndrome genes. As more research has shown different cancer risks for each gene, experts have started to separate the risks and medical options for each individual mutation. Despite these differences, some references discuss Lynch syndrome as though inherited mutations in these genes carry the same risks. 

If you have been told that you have Lynch syndrome, it is important to know which gene has a mutation, so that you can make informed decisions about your medical care. 

In the past, Lynch syndrome was also referred to as “hereditary nonpolyposis colorectal cancer” (HNPCC). This term has fallen out of favour because mutations in these genes also increase the risk for other cancers besides colorectal cancer. 

Transforming the care of people with Lynch syndrome: a system-wide approach

Monahan et al describe progress in addressing the lack of diagnosis of Lynch syndrome in the English National Health Service with a bold attempt to fix a leaking pathway.

There remains much to do, not least inclusion of the many other tumour types seen in LS, but this programme has demonstrated the power of a national system of health provision and the willingness of the professional community to work together to improve the care of people with this common rare disorder.

https://bmjoncology.bmj.com/content/2/1/e000211

“Go ahead and screen” – advice to healthcare systems for routine lynch syndrome screening from interviews with newly diagnosed colorectal cancer patients

Conclusion: Our qualitative findings demonstrate patients with CRC have a strong desire for healthcare systems to regularly implement and offer UTS.

https://pubmed.ncbi.nlm.nih.gov/37978552/