Key organisations from across the UK are coming together on Genetic Counsellor Awareness Day (Thursday 10 November 2022) to highlight the important role genetic counsellors play in healthcare.
Genomics England, The British Society for Genetic Medicine (BSGM) and the Association of Genetic Nurses and Counsellors, are all joining forces to celebrate the expertise of genetic counsellors. Genetic Counsellor Awareness Day recognises the profession and the variety of roles they play in healthcare helping patients and their families navigate their concerns about genetic conditions and testing.
Genomics has brought a wealth of knowledge to the diagnosis and treatment of many conditions and is making a tremendous impact in fields such as cancer and rare diseases.
Genetic counsellors empower patients and their families with information, guidance and emotional support to understand their family history, and make informed choices about genetic testing options and results. As genomics becomes more commonly used in healthcare, more and more people are likely to require genetic counselling, with more healthcare professionals needing to rely on genetic counsellors’ expertise.
Amanda Pichini, Clinical Lead for Genetic Counselling at Genomics England explains: “At Genomics England, we have genetic counselling leadership embedded in the organisation, providing expertise to the design and delivery of our services and how we interact with our participants, to support our vision of helping everyone benefit from genomic healthcare. I feel hugely privileged to be part of a profession that is always looking ahead, seeking new opportunities to improve care for patients and families, and approaching challenges with thoughtfulness and integrity – I am grateful that we can bring this to attention.”
Genomics and genetic counselling can have an impact throughout the lifespan, from:
- Before birth (providing advice to couples who have a higher chance of passing on an inherited condition, or whose pregnancy may be affected by a genetic condition);
- In childhood (providing support to families where a child has a suspected or confirmed genetic condition);
- Through to adulthood (assessing when individuals may have a higher risk of cancer based on their family history, and/or facilitating genetic testing to identify individuals who may be at increased risk)
In the UK, genetic counselling can be accessed through the NHS by a referral from a healthcare professional based on medical or family history. This is usually because there is a suspicion of a rare condition, or a condition caused by changes in a single gene.
Genetic counsellors work as part of a multidisciplinary team alongside doctors, clinical laboratory scientists, nurses, midwives and other healthcare professionals. Using their specialist knowledge, they support patients and their families, order genetic and genomic tests to clarify health risks and use counselling skills to support and empower patients as they incorporate this information into their lives.
Most genetic counsellors work in regional Clinical Genomic Services, but are increasingly working within other areas like cardiology or oncology. There are just over 300 genetic counsellors in the UK, represented through the Association of Genetic Nurses and Counsellors – a small specialist workforce compared to over 700,000 practicing nurses. The total number of genetic counsellors globally is approximately 7000, in at least 28 countries.
Genetic counsellors are key to the British Society for Genetic Medicine's vision of enabling better healthcare through genetics and genomics, says Gemma Chandratillake, Chair of the BSGM.
She said: “These professionals apply their unique combination of genetic science and counselling skills to empower individuals and families to make meaningful decisions regarding their genetic information. Genomic medicine is more than medical appointments and laboratory testing; it is about people and families, relationships, communication and values. Genetic counsellors are there to help people really make sense of their DNA.”
Sara Levene, Consultant Genetic Counsellor at the Centre for Reproductive and Genetic Health, and Chair of the Association of Genetic Nurses and Counsellors, added: “As a profession, we are really well equipped with a wide range of skills that makes us able to adapt to the rapidly changing field of genomics. As more and more healthcare professionals are having to discuss genomic testing with their patients, there will always be roles for genetic counsellors to help educate their colleagues, pick up the more complicated cases and be the specialist who ‘takes care of the family’.”
Helen White was referred for genetic testing to look for an inherited condition called Lynch syndrome, following a diagnosis of womb cancer. Helen explains that the support she received from a genetic counsellor played a key role in helping to manage her condition and support potentially life-changing choices.
She said: “Importantly they explained to me that my first-degree relatives could be tested if I was found to have Lynch syndrome and how that would happen, which meant I could keep my family informed on how my diagnosis might impact them. Even though I went into genetic counselling already keen to be tested for Lynch syndrome, genetic testing was still a big decision, and it was great to be able to talk through all the implications.”