The Role of the Genetic Counsellor
Written by Megan Berkeley, Pre-registration Genetic Counsellor; Dr Shauna Quinn; Lynsey Marriott, Pre-registration Genetic Counsellor, Department of Clinical Genetics, CHI at Crumlin
Genetic Counsellors are a specialised group of healthcare professionals trained in genomic medicine and counselling skills. The role involves supporting individuals and their families to understand and adapt to a diagnosis of a genetic condition, facilitate the genetic testing process, and guide ongoing care according to a patient’s specific needs. Genetic counsellors can offer a unique perspective as advocates for individuals under their direct care as well as for those in the wider family, which can involve managing highly complex situations and ethical challenges.
Genetic counsellors have traditionally worked as part of a Clinical Genetics service, alongside Clinical Geneticists, Scientists, other Healthcare Professionals, and Administrative Staff. In recent years, increased genetic testing is being offered in non-genetics specialities, known as “mainstreaming”, which is changing how patients and clinicians encounter information about genetic risks and the implications of inherited conditions. Genetic counsellors are therefore taking on more specialised roles in a range of settings, including oncology, cardiology, and prenatal care, as well as promoting education of the workforce to ensure patients are being provided with accurate information and appropriate support at each stage of their healthcare journey.
Key skills and expertise
Genetic counsellors must have a wide-ranging and detailed knowledge about genetic medicine to ensure patients are fully informed of their options for genetic testing, family planning, screening, management, and communication to relatives about genetic conditions. Skilful communication is therefore central to the role, alongside the capability to highly tailor explanations to the individual’s background and personal circumstances. Counselling skills are a key aspect of this, as genetic counsellors must interpret how potentially challenging information is landing with a patient, and explore how they will cope with the impact of a diagnosis or a genetic test result. Alongside relevant medical and family history information, genetic counsellors factor in how psychosocial factors and interpersonal relationships could affect a patient’s outcomes, and use a person-centred, holistic approach to support them in making the right decision for themselves at the right time with regards to their health and wellbeing.
Training Pathways
Genetic Counsellor
Most genetic counsellors have scientific backgrounds following completion of an undergraduate degree related to molecular biology, however some originally trained as nurses or other professions. Aspiring genetic counsellors require specialist training to develop the unique knowledge and skills of the role, either through a Masters degree or the 3-year Scientist Training Programme run by NHS England. There is currently no accredited MSc course offered in Ireland, so practising genetic counsellors here have completed their qualifications and much of their training abroad. Different countries have different professional registration requirements, but typically following the training course, individuals will work in a pre-registered role to ensure they meet the necessary competencies to practice autonomously, which encompass comprehensive patient care, multidisciplinary working, education, and service improvement. Genetic counsellors make up a relatively small group of clinicians, but the potentially wide-reaching nature of the role emphasises the need for consistently high standards which centre patient safety, particularly as genomic medicine becomes more closely integrated with the wider healthcare service.
Clinical Geneticist
Clinical Geneticists are medically trained Doctors who are involved in the diagnosis and management of rare & non-rare inherited disorders and birth defects. Clinical Geneticists estimate genetic risk and assist with genetic counselling of family members. With the constantly evolving role, Clinical Geneticists have adapted to be an information resource for other medical specialists and generally work in multidisciplinary regional genetic centres, in close collaboration with laboratory scientists, clinical co-workers and academic colleagues. Furthermore, Clinical Geneticists have an important role in mainstream clinician and public education regarding ethical issues that arise from new developments in the clinical application of genetic knowledge.
All Clinical Geneticist must have completed either an undergraduate or postgraduate medical degree. In Ireland, aspiring Clinical Geneticists typically pursue postgraduate basic specialist training in medicial/paediatric or other specialty training to obtain the certificate of completion. Successful attainment of the relevant examinations is required. Following this, it is possible to apply for the Clinical Genetics higher specialist training programme. This is a four year programme for full time specialty training in core clinical genetics and biochemical genetics. The first two years of training must be undertaken in Ireland before completing any research or out of year programme experience. Research and out of programme experience is recommended and will contribute up to 12 months towards the completion of training. The training scheme promotes a basic understanding and training in genetics embracing clinical, laboratory and theoretical work. During the four years, one must meet the required competencies and assessments to ensure satisfactory completion of specialist training. There is a European exam that all trainees are encouraged to complete prior to finishing.
What type of referrals do we triage?
We triage referrals for >10,000 single gene disorders e.g. Cystic Fibrosis, Duchenne Muscular Dystrophy and Fragile X Syndrome. Referrals for childhood developmental delay, chromosome disorders, hereditary cancer, inherited cardiac conditions, metabolic disorders and neurological disorders are also assessed. We receive referrals for family members where there is a known causative variant or genetic alteration in the family, and patients who are seeking a genetic diagnosis.
Genetic counselling referrals can be roughly grouped into the specialisms of cancer, general and prenatal. Cancer referrals include those with a personal history or strong family history of cancer. General referrals relate to a variety of disorders including cardiac conditions, metabolic disorders and neurological disorders. Referrals can be for patients seeking a genetic test for a known condition in the family but are unaffected at the time of referral.
This is termed predictive genetic testing. Referrals can be for patients trying to identify a genetic cause for their own diagnosis, for example if there was an inherited component to their breast cancer diagnosis. Diagnostic testing may be offered to such patients to try and identify a genetic cause for their diagnosis and provide individual risk estimates. We also receive referrals for prenatal genetic testing for patients who wish to know the genetic status of their pregnancy when there is a known genetic disorder in the family. Other referrals relate to people seeking genetic counselling regarding reproductive information when a genetic condition is known in the family.
When a referral comes in to the department we usually check if we have seen other members of the family for the same condition. In this way we can link referrals for family members which can give us a detailed understanding of the family history and what members of the wider family may require genetic testing or screening advice.
What should I expect in a genetic counselling appointment?
During the 45 minute appointment a genetic counsellor will first discuss the patient’s personal medical history. A three-generation family tree will then be drawn up to capture relevant family history. Drawing a family tree is a valuable tool to help identify markers of a possible inherited condition and unravel potential modes of inheritance. The genetic counsellor will then discuss the indication for genetic testing, the genes for which testing would be offered, their associated risks, possible screening recommendations onward referrals. Genetic counsellors talk through the implications of genetic test results. For instance, if a genetic change is identified then other family members may be at risk and could seek a referral for genetic counselling for an individualised assessment. Genetic counsellors explore patient’s feelings around genetic testing and its implications. Genetic counsellors are uniquely skilled to help patients understand genetic information, its implications and the benefits and limitations of available testing. The potential intergenerational impact of genetic testing means it can have personal, familial and psychosocial implications for patients.
Genetic testing is done by taking a blood sample from which DNA is extracted. Samples can be analysed for a single gene or a number of genes associated with a condition, which is termed a panel test. Genetic testing has advanced dramatically in recent years. For instance, genetic testing has now expanded to a panel of 9 genes for hereditary breast cancer, compared to only testing BRCA1 and BRCA2 genes previously.
Patients are offered a follow-up appointment to discuss the results of their genetic test. Results for panel tests can take 3-6 months to be finalised and single gene tests can take 3-4 months. During a results appointment genetic counsellors give personalised risk information to patients based on the combination of their family history and genetic test result. They can also provide advice regarding family planning, screening, for example frequency of mammograms, and other health checks.
What is the difference between an appointment with a Clinical Geneticist and a Genetic Counsellor?
Genetic counsellors and clinical geneticists work in collaboration but have differing backgrounds and roles within the Department of Clinical Genetics. Clinical Geneticists are Doctors with specialised training in medical genetics and have expertise in the diagnosis and treatment of genetic conditions. A major differences between Clinical Geneticists and Genetic Counsellors, are that Clinical Geneticists examine, clinically diagnose, co-ordinate medical investigations, and integrate the results of clinical presentation and investigations to identify a diagnosis, whereas genetic counsellors do not.
Referrals can be made to a Clinical Geneticist in our department for a variety of reasons. Examples include foetal abnormalities, a child with congenital malformation(s) or learning difficulties associated with other problems or a family history, which may be due to an undiagnosed genetic condition. Other common referrals are for children with a known inherited condition or congenital abnormality where parents want information regarding the condition and recurrence risks, and a pregnant person or couple who have received an abnormal test result and want to discuss their options and gain greater understanding of the results. During an appointment with a Clinical Geneticist, they will take a detailed medical and family history, complete a physical examination and may take clinical photographs. Clinical Geneticists can order genetic tests such as trio exomes, arrays, karyotyping, panel tests and single gene tests.
The future of genetic counselling
The Department of Clinical Genetics at Children’s Health Ireland, Crumlin serves the entire country and provides a national genetic counselling and clinical genetics service. The National Strategy for Accelerating Genetic and Genomic Medicine in Ireland was launched in December 2022 and outlines actions to develop the service in Ireland. It highlights that genetic counselling is under-resourced compared to international standards. Only 25 genetic counsellors are practising in Ireland, which is approximately only one for every 200,000 people. The move at a national level to increase the numbers of genetic counsellors is a welcomed development in an area of healthcare that has been under resourced and underfunded to date.
Currently genetic counsellors register and gain accreditation through the Genetic Counsellor Registration Board, which is a UK accreditation body. The national strategy supports the recognition of genetic counsellors by CORU, a regulator for a variety of health professions in Ireland, and the greater inclusion of genetics into the curriculum for healthcare professionals. These improvements will support the expansion of knowledge of genetic counselling through improved education and recognition via national professional accreditation. A primary aim of the strategy is to have increased integration of genetics into other departments to improve access to genetic testing and the specialist input of Genetic Counsellors across the country. There are currently four genetic counsellors embedded in specialist clinics, two in the National Centre for Inherited Cardiac Diseases, another in the National Centre for Inherited Metabolic Disorders and the third in The National Maternity Hospital. The expansion of the embedding of genetic counsellors into specialist clinics and multidisciplinary care teams will improve the timely access to genetic testing, support for interpretation of results and clinical decision making. Genetic counselling is a rapidly developing field with exciting prospects as regards specialisation and career development. The future of genetic counselling is bright for the upcoming generation of medical professionals in Ireland.