Genomic medicine strategy 2024 to 2029

Annex 1: Overview of our current genomic medicine workforce

Healthcare Science workforce

Clinical Scientists

Clinical Scientists, registered with the Health and Care Professions Council (HCPC), are core professionals within genomic medicine and are responsible for interpreting genomic results and authorising all diagnostic reports issued by NHS Scotland genomic laboratories. They are vital in helping clinicians to understand complex genomic information and how this can be communicated to patients and guide decision making. Clinical Scientist training in Genetics and Molecular Pathology in Scotland is a three-year modular training programme developed and overseen by senior clinical scientists within the genomic laboratories. This training was developed and is delivered on behalf of NHS Education for Scotland (NES) and follows many of the requirements of the National School for Healthcare Science’s (NSHSC) Scientist Training Programme (STP) although is not formally accredited. Upon completion of the three year programme, trainees can choose to progress through either the Academy for Healthcare Science (AHCS) Certificate of Equivalence route or the Association of Clinical Scientists (ACS) Certificate of Attainment to achieve registration with the HCPC as a Clinical Scientist. A workforce planning exercise undertaken in 2018 by the genetic laboratories predicted that a minimum 10 trainee clinical science posts in Scotland per annum would be required to keep pace with staff retirement and future service growth. With increasing demand for service provision and the move towards more flexible working patterns, this number is understood to be significantly higher now.

Assistants and Practitioners

This group of laboratory staff are essential to the operation of the genomic laboratories as they deliver all the diagnostic testing and generate the information that is then interpreted and reported by Clinical Scientists. HCS Assistants and Practitioners have no formal training programme and train on the job and there is no formal registration in place or clear career progression routes for technical staff beyond NHS Band 7.

Biomedical Scientists

Biomedical Scientists (BMS) undergo formal training and are registered with the HCPC. Although there is an option for BMS to become HCPC registered via the Institute of Biomedical Science (IBMS) competency portfolio, there is currently no specialist portfolio to allow BMS staff to train within molecular pathology and genomic medicine. There is considerable work to be done around the role that BMS can play in the genomic medicine service with limited BMS staff in experienced roles able to deliver service-specific training.

Data Science and Analysts

The establishment of national genomic data returns and the integration of data with existing registries and other national datasets is dependent on data managers and data analysts with specialist knowledge and skills. Training routes vary substantially but data scientists typically train in computer science, data science or a related field followed by post-graduate education, professional certification and in-house training.

Bioinformaticians and Data Scientists

The volume and complexity of genomic data means that bioinformatic and data science support is crucial and this need will only increase as testing expands to include large panels, WES and WGS. Across the four genomic laboratories, bioinformatic support is in place within the NHS in only two Health Boards and the remainder access bioinformatic support via collaborations with academic institutions. The training routes for bioinformatics and data science are diverse and are transferable across the NHS, academia and industry, to an extent that retention of bioinformatic staff within NHS genomic medicine services has been acutely problematic.

Genetic Counsellors

Genetic counsellors work with patients and families to offer genetic and genomic information and support that enable them to make decisions about their health and care. A diverse range of HCPs enter the field and the training route is via a master’s level degree. The majority of genetic counsellors in Scotland were trained via Scotland’s sole MSc programme in genetic counselling. This course, although fully accredited by the UK and European professional genetic counselling boards, was forced to close to new entrants in 2022 because of staff shortages.

Medical workforce

Clinical Geneticists

Clinical genetics is a medical specialty that focuses on the investigation, diagnosis and management of rare and inherited disease, and assessing the risk of some conditions based on a person’s genetic make-up. Training is accessed via the UK-wide Physician Higher Specialty Training Recruitment programme, with annual trainee numbers set for Scotland by the Scottish Deanery. Medical registrars begin training in Clinical Genetics at Specialty Training level three and train on average for six years within three training centres in Scotland (Aberdeen, Edinburgh and Glasgow). Workforce planning carried out in 2022 by the Clinical Genetics Forum predicted a shortfall in newly qualified registrars by 2030, a problem compounded by a UK-wide shortage of clinical genetics consultants, with the number of trainees in Scotland fixed at seven per annum since 2013.

Genetic Nurse Specialists

A small number of nurses are employed as genetic nurse specialists in Scottish centres. They provide specialist nurse expertise to patients with a wide range of genetic conditions rather than being single condition-specific. These nurses have a diverse range of roles that can include care coordination, patient follow-up, patient support, research recruitment, multidisciplinary team (MDT) and joint clinic working. The range of roles is dependent on the needs of patients and the availability of health and social care services to meet those needs within the Health Board area. This model of service can be part of a very effective mechanism for delivering coordinated patient care.

Pathology

Depending on the route of referral, genomic tests may also be interpreted by medically qualified pathologists and discussions of the implications of genomic data for diagnosis, prognosis or therapy will often need to involve molecular pathologists, haematologists or pathologists from different specialities to ensure that findings are fully considered and implemented. Within particular testing pathways, there will also be changes to the preparation of samples and new techniques required to ensure that genomic analysis is viable and valid. There have been a number of initiatives within the pathology community and the Royal College of Pathologists to prepare pathologists for genomic medicine but challenges remain in terms of the delivery of that training, the resourcing of more time-intensive techniques and coordination across more complex clinical pathways.

Pharmacy and pharmacogenomics

As genomic medicine technology develops and our knowledge about the role of genomics in the metabolism of different medicines increases, this will be an area of significant growth at a ‘whole system’ level. It is essential that pharmacy teams are integrated into the multidisciplinary approach for implementation of pharmacogenomics and provide clinical and professional leadership across Scotland. The Royal Pharmaceutical Society have issued a position statement with recommendations to support pharmacogenomics and implementation across healthcare systems which details the role of pharmacy professionals within this area.

Oncologists and Haematology

As genetic and genomic information becomes an increasingly important part of cancer care, patient-facing oncology staff are already playing a significant role in the interpretation of genomic data, patient communication and counselling, clinical decision-making and the delivery of targeted therapy. Oncologists, haematologists, and nurses across both oncology and haematology urgently need tailored support to help improve their skills and confidence in integrating genomic medicine into oncology practice and supporting genomic MDTs. At the moment there are no established training pathways or accredited programmes in place, and no formally trained specialist staff within the workforce able to support the mainstreaming of genomic medicine into oncology and haematology services. As other ‘mainstream’ medical specialties increase their use of genomic testing and, as already seen within oncology and haematology, genomic information shapes service delivery, the same challenges around training and education will be encountered.