Reference: February 2025 | Issue 2 | Vol 11 | Page 32
Genetic counselling is still an under-recognised field. Despite having arisen around the same time as physician assistants (circa 1970), there are far fewer genetic counsellors, and the public is less aware of this career. Indeed, genetic counselling is not officially recognised by the HSE or the US Centers for Medicare and Medicaid Services. This restricts access to genetic services and limits our ability to be reimbursed for our services, which in turn makes hospitals less eager to hire genetic counsellors.
However, the discovery of many genes that can lead to cancer means that a large percentage of the population may need to see a genetic counsellor at some point in their lifetime. Genetic counsellors are trained to provide risk assessments, genetic testing when indicated, and personalised management recommendations for individuals who have a personal or family history of one of these conditions.
I have worked in cancer genetics since 1995; right between the discovery of the BRCA1 and BRCA2 genes. At that time, testing was restricted to patients with very strong personal and family histories of cancer because it was costly (>€2,500) and it was not clear if it could improve outcomes.
Thirty years later, there are now over 25 genes known to cause an increased risk for breast and ovarian cancer. Many of these have also been linked to prostate, pancreatic, and other cancers, and testing is available for large panels of genes at a much lower cost (~€250).
This has led professional organisations to increase the number of patients for whom genetic testing is recommended to include anyone with ovarian, pancreatic, triple-negative breast, or metastatic/high grade prostate cancer (regardless of age or family history), and anyone with breast cancer diagnosed under age 50.
Guidelines recommend testing for Lynch syndrome in anyone with colorectal and endometrial cancers diagnosed under age 50. Individuals without cancer may also qualify for genetic counselling and testing if they have a family history of early-onset cancer or multiple cases of cancer.
The benefits of genetic testing for hereditary cancer syndromes include potential changes to therapy and the ability to provide intensive surveillance and prevention to high-risk individuals.
Recently, there has been a move to increase access to genetic testing through point-of-service testing for all cancer patients. In this model, every cancer patient is offered genetic testing, typically in the oncologist’s office, with pre-test informed consent instead of full pre-test genetic counselling. Genetic counsellors are involved in the results disclosure process and provide full post-test counselling for anyone found to have a hereditary cancer syndrome.
We have recently completed testing for >20,000 patients at City of Hope using this model. Despite removing the need for pre-test genetic counselling, this still increased our need for genetic counsellors to handle the result disclosures. With around 15 per cent of the patients testing positive, that meant 5,000 patients got result phone calls and referrals for post-test genetic counselling sessions. We have 17 cancer genetic counsellors and two genetic counselling assistants at City of Hope. In contrast, there are five cancer genetic counsellors at St James’s Hospital, Dublin.
Increased demand
Ireland’s National Cancer Control Programme developed a Hereditary Cancer Model of Care in April of 2023, which is visionary, but acknowledges that hereditary cancer services in Ireland are underdeveloped and under-resourced to meet the rapid growth in service demand. We are facing similar challenges in the US, even though we now have 58 accredited genetic counselling training programmes.
There are no training programmes in Ireland to serve as a pipeline for these uniquely trained healthcare providers. The good news is that there is a lot of interest and enthusiasm for the field. US News Best Jobs Report ranked genetic counselling as the second best healthcare support job in 2023 and 14th in the top 100 jobs overall. The US Bureau of Labor Statistics projects employment to grow 16 per cent from 2023 to 2033. If we want to fully realise the potential of personalised medicine, we will have to develop and recognise genetic counsellors.
Genetic counsellors are a key part of delivering optimal oncology care. To respond to the demand for access to cancer genetic testing and counselling, permanent funding for 20 cancer genetic counsellors in oncology care is required nationally to serve a population of 5.3 million people. Additionally, a step forward to increase the capacity of genetic counsellors in the Irish health system is a HSE-funded training pathway.
Prof Hampel was a keynote speaker at the Inaugural Cancer Genetic Counselling Conference Day hosted by St James’s Hospital and Trinity College Dublin in November 2024.
