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Know your family history

Many men with cancer in the family worry that they are at greater risk of getting it themselves. But this isn’t the case for most people. Cancer is a common disease among older people, so most families will include at least one person who has had cancer.

The more relatives who have had cancer, and the younger they were at diagnosis, the stronger your family history. You may have a strong family history if any of these situations apply to you:

  • More than two close relatives on the same side of your family have had cancer.
  • The cancers developed when they were young (under the age of 50).
  • One of your relatives has had a gene fault found by genetic tests.

5 – 10% of cancers are linked to an inherited gene fault.

What should I do if I have a family history of cancer?

Talk to your doctor who can help you find out if your family history of cancer is of concern. Your doctor may suggest that you visit regularly for screening. In this way, you can pick up problems early.  

https://www.independent.ie/life/health-wellbeing/health-features/cancer-in-the-family-our-sister-was-adopted-to-america-if-we-hadnt-found-her-my-brother-and-i-could-have-died-of-cancer/a680132515.html

Cancer in the Family

If Lynch syndrome runs in your family you really need to know.

https://www.independent.ie/life/health-wellbeing/health-features/cancer-in-the-family-our-sister-was-adopted-to-america-if-we-hadnt-found-her-my-brother-and-i-could-have-died-of-cancer/a680132515.html

“Much of our work around Lynch syndrome is preventing cancer before it starts”

Director of the Lynch Syndrome Center Shares his Personal Connection to Lynch Syndrome

No other landscape in medicine has changed as drastically as the field of Clinical Genetics – Is Ireland behind the curve?

Advances in technology have been a major driver of the explosion of knowledge in genetics, now allowing us to sequence the entire human genome in a short period of time and at a fraction of the cost of previous years.

This has led to a better understanding of the natural history of cancer, the ability to assess genetic risk for cancer across populations, the development of clinical management strategies to reduce cancer risk, the development of novel therapeutic agents which target genetic alterations, and to improved education of patients and providers about genetic risk.

Hereditary cancer is hard enough to navigate, so we are thankful for patient-friendly information to help inform the decision-making process.

https://www.stjames.ie/cancer/yourtreatmentandcare/servicesandtreatments/cancergeneticsservice/

Genetic testing is a vital tool in enabling individuals to be proactive in their health care to achieve the best possible outcomes.

It’s very important for everyone to understand their cancer risks based on their personal or family history since their personal risk level may necessitate earlier, more frequent, and/or more intensive cancer surveillance.

This is the best way to ensure that you are doing everything you can to prevent cancer or catch it early when treatment has the best outcome.

At present cancer genetics services in Ireland are underdeveloped and underfunded. Only a fraction of staff required are in place. As a result long waiting times, extra cost to the state because cancers are not prevented and discovered at a later stage.

More Evidence that Molecular Residual Disease Monitoring Could Guide Adjuvant Therapy in Colorectal Cancer

Studies have found that the ctDNA blood test can reliably detect “molecular residual disease” (MRD) – essentially, small traces of cancer left after surgery. Patients who test positive for MRD have a higher risk of their cancer returning.

In colorectal cancer, circulating tumour DNA (ctDNA) has become a minimally invasive and dependable prognostic biomarker for identifying post-surgical MRD and assessing the risk of recurrence.

In a recent update from the CIRCULATE-Japan GALAXY observational study, results reinforced previous studies demonstrating that monitoring ctDNA can help detect MRD and assess the risk of recurrence in patients with resectable CRC. 

https://news.cancerconnect.com/colon-cancer/more-evidence-that-molecular-residual-disease-monitoring-could-guide-adjuvant-therapy-in-colorectal-cancer-

VARIANT OF UNCERTAIN SIGNIFICANCE (VUS)

When analysis of a patient’s genome identifies a variant, but it is unclear whether that variant is actually connected to a health condition, the finding is called a variant of uncertain significance (abbreviated VUS).

In many cases, these variants are so rare in the population that little information is available about them. Typically, more information is required to determine if the variant is disease related. Such information may include more extensive population data, functional studies, and tracing the variant in other family members who have or do not have the same health condition.

AI and Machine Learning are poised to play a significant role in advancing Genetic Testing practices.

These study findings offer hope that further acceleration of VUS reduction is possible through advances in these rapidly evolving technologies. 

Conclusions and Relevance  In this cohort study of individuals undergoing genetic testing, the empirically estimated accuracy of pathogenic, likely pathogenic, benign, and likely benign classifications exceeded the certainty thresholds set by current VC guidelines, suggesting the need to reevaluate definitions of these classifications. The relative contribution of various strategies to resolve VUS, including emerging machine learning–based computational methods, RNA analysis, and cascade family testing, provides useful insights that can be applied toward further improving VC methods, reducing the rate of VUS, and generating more definitive results for patients.

https://jamanetwork.com/journals/jamanetworkopen/fullarticle/2825808

Dismantling the fallacies of the illness blame-game

A person’s likelihood of succumbing to a particular illness has very little, statistically, to do with how much broccoli they ate in their teens or how many press-ups they do every morning. The concept of the social determinants of health has become more mainstream in recent years, but I think we are still slow to accept how limited conventional medical treatment is when it comes to really making a bottom-line difference to people’s wellbeing.

Dismantling the fallacies of the illness blame-game

Let’s Talk About…Genomic Testing

Communication is crucial, and genomics can be a difficult topic to get across – especially when talking to patients. If you want to skill up, our ‘Let’s Talk About… Genomic Testing’ film series is a good place to start: https://buff.ly/4405Ozk

Featuring experts with many years’ experience, this series of films provides a helpful introduction for anyone communicating with patients about genomic testing and the possible results.

Let’s talk about… Possible results

Let’s talk about… Variants of uncert

Let’s talk about… Uncertainty

Let’s talk about… Incidental finding

Let’s talk about… The impact on fa

Let’s talk about… Communication 

Impact of population screening for Lynch syndrome insights from the All of Us data

Data used from the All of Us (AOU) Research Initiative to assess the prevalence of LS in the general U.S. population, and analyzed demographic, personal, and family cancer history, stratified by LS genotype to compare LS and non-LS carriers. 

The results suggest that population-based germline testing for LS may identify up to 63.2% of carriers who might remain undetected due to lack of personal or family cancer history.

Their analysis on family history of cancer indicates that cancer risk further escalates for LS carriers who also have a family history of cancer.

LS affects about 1 in 354 individuals in this U.S. cohort, where pathogenic variants in the genes MSH6 and PMS2 account for the majority of cases.

https://www.nature.com/articles/s41467-024-52562-5?fbclid=IwY2xjawH29mVleHRuA2FlbQIxMQABHczHv3SqDUHGSxdh4H1ZTHvIdPioVO4Um3gsaRLm6ukCAeL1it6PBYGPrQ_aem_TV1obtvA3TEZmXYAV3j5uw

Becoming agents for genomic change: genetic counsellors’ views of patient care and implementation influences when genomics is mainstreamed

Genetic counsellors are increasingly transitioning beyond clinical genetics services to meet the growing demands for genomic healthcare.

Challenges included hesitancy of some medical specialists regarding the value of genomics in healthcare and potential tension arising from distinct perspectives and practice between genetic and non-genetic professionals.

https://www.nature.com/articles/s41431-024-01686-9