Cancer Genetic Service

Pictured:

Back row: Kerri Geoghegan – (cancer genetics admin), Sarah Molumby (Cancer genetics Service manager), Amanda Mitchell (cancer genetics admin), Agnieszka Aziewicz (Genetic Counsellor)
Front Row: Dr. Rosie O Shea (Principal Genetic Counsellor) Niamh White (Genetic Counsellor), Prof Karen Cadoo (Consultant Oncologist and Cancer Geneticist)

By Rosie O’ Shea MSc PhD CGC [FHGSA], Principal Genetic Counsellor

Tell us about genetic counselling, and the role of genetic counsellors?

Genetic counselling encompasses working with families and individuals to help them adapt to and understand the implications of genetic and genomic information for their individual or family experience.

Many families come to see a genetic counsellor if there is a family or medical history with or likely to have a hereditary basis. The genetic counsellor uses advanced knowledge and skills in genomics, communication and counselling to help families navigate genomic testing and to make meaning of the results from such testing for themselves and their families. In the cancer genetic service, the genetic counselling and clinical nurse specialists team will see people with and without a cancer diagnosis to discuss genomic testing to inform cancer care, future cancer risk management or specific familial genetic testing for families with a known cancer predisposing gene. Additionally, we assess cancer family history information to make a considered cancer risk assessment. We work alongside our dedicated consultant oncologists and geneticists to provide this care.

What does it involve?

Genetic counsellors need to attain advanced training through a Master’s of Science in Genetic Counselling. The specialist training allows for the development of advanced counselling and communication skills in the application of genetic knowledge in a real life medical genomics setting, with a client-centred and shared decision making focus. A genetic counsellor interacts with clients with active listening, communication, counselling and supportive skills that aim to help a person assimilate often complex genomic information, in order to make informed decisions for their healthcare and to facilitate sharing of genetic information with their family. I think genetic or now genomic counselling is an ideal combination of science, medicine, communication and the “human factor”.

What are some of the challenges you face in this role?

Genetic counsellors are allied health professionals who work alongside oncologists, nephrologist, cardiologist and geneticists. Our role is becoming more embedded into the multidisciplinary care of these specialties. In oncology care, patients and health professionals who engage with genomic testing have the opportunity to speak with a genomics expert to ensure adequate knowledge and appropriate care and management is arranged. With the demand for genomics expertise, one of the challenges we face as a profession in Ireland is not being recognized by the HSE as a profession, and globally we are challenged due to workforce shortage of genetic counsellors. Keeping abreast of the ever evolving genomics knowledge is challenging but vital to ensure updates to cancer genomic guidelines and management is based on the most recent evidence that needs to be translated to patient care. However, with these challenges come opportunities to meet the growing genomics demand with innovative solutions to service delivery.

What are some of the successes you’ve seen in this role?

In the last 10 years there have been huge leaps and bounds forward in genomic testing technology and knowledge of genes involved in inherited cancer predisposition. When I first started to work as a genetic counsellor, what you could offer clinically was limited to single gene testing. Now the genomic testing technologies can reveal much more information by testing many genes together with a better chance of understanding if there is an inherited basis to cancer. It is still not perfect, we still don't have all the answers, but genomic testing technology is moving cancer genetics forward, which means the information given to patients will get more personalized over-time.

With this revolution in cancer genetics knowledge the cancer genetic service at St. James Hospital has evolved alongside under the leadership of consultant oncologist and geneticist, Prof. Gallagher and Prof. Cadoo. We now facilitate a virtual, telehealth or in person appointment with a genetic counsellor for patients living in any part of Ireland. An initial discussion regarding the benefits and limitations of cancer genomic testing is followed by remote testing (where appropriate), with the use of saliva kits sent directly to a person’s home to facilitate DNA collection. Our innovative approach to service delivery allows for improved turnaround times to receive results to inform cancer treatment. However, the wait time for patients to be see for a routine appointment is significant. We need more genetic counsellors and health technology solutions to meet the ever growing patient need for genomic testing and to deliver a national cancer genetics model of care.

What benefits does it provide patients? Their families?

Genetic counselling is about working with the new genomic testing technology to help families understand what the testing information and limitations mean for them. Some of the genomic testing that we now offer involves looking at a panel of 20 or more genes that are linked to inherited cancer predisposition. When we identify a genetic variation in one of these genes know to be associated with causing cancer we can stratify a person’s risk into a moderate or high lifetime risk for cancer development and refer for preventative measures to help reduce the risk of cancer occurring in individuals or families.

How does it help ‘take back from cancer’! (going with the theme)

If we want to “take back from cancer” it’s really important to optimize the access to genomics to facilitate the identification of hereditary cancer. Currently, in many countries access to testing or genetic counselling services is challenged due to workforce shortages and the need to upskill oncology health professionals and the health system infrastructure to embed genomic testing as part of the routine cancer care. By broadening access and avenues for patients to get access to testing more people will be identified which then allows for cancer prevention strategies to be started, improving both patient outcomes and health system efficiencies.

Additionally, genetic testing allows patients with cancer to access targeted treatment for their cancers, such as Parp inhibitors. Cancer patients who are identified as having a BRCA cancer predisposing gene variants in their tumour or blood DNA can access such targeted treatment, which allows the person to benefit from optimal survival from primary or secondary cancers.

What is the role of genetics in cancer prevention?

We are all vulnerable to cancer occurring, 1 in 10 women and 1 in 8 men will get breast or prostate cancer in their lifetime in Ireland. However, those with a cancer predisposing gene variant live with a much higher lifetime cancer risk. Firstly, we need to resource the health system with genetic counselors and knowledge to ensure those with a high and moderate risk cancer are identified through timely access to genomic testing.  Once identified these individuals or families need access to specific cancer prevention strategies to reduce their risk. For example, regular breast or bowel screening at an earlier age then the general population can be arranged or taking a recommended dose of aspirin to reduce bowel cancer risk in those with Lynch syndrome. Other strategies to prevent cancer are to have surgery to remove the organ at risk of developing cancer if no effective screening or preventative measure is available, as is the case for ovarian and womb cancers. 

Cancer Genetics Team:

Prof. David Gallagher, Consultant Oncologist and Medical Geneticist
Prof Karen Cadoo, Consultant Oncologist and Cancer Geneticist
Carmel Nolan, Cancer Genetic Nurse specialist
Roisin Clarke, Research Genetic Nurse
Aoife Ruane, Cancer Genetics data Manager
Kerri Geoghegan,  Cancer Genetics Administrator
Sarah Molumby, Cancer Genetics Service Manager,
Amanda Hogan, Cancer Genetics Administrator,
Agnieszka Aziewicz, Genetic Counsellor
Dr. Rosie O Shea, Principal Genetic Counsellor
Niamh White, Genetic Counsellor
Dr Aoife O Shaughnessy Kirwan, Genetic Counsellor
Catherine Stafford, Cancer Genetics Administrator
Sarah Almasry, HOPe Operations Manager