Learn more about those professionals at the helm of genomic medicine
Genomic scientists
Hear about the roles for scientists in genomic testing and the interpretation of results.
Genomic scientists are healthcare scientists working specifically in genomics. They bring specialist scientific knowledge and skills to the selection of appropriate tests, the processing of patient samples and the interpretation of test results.
In genomics, scientists fall into two categories: genetic technologists and clinical scientists
Genomic scientists:
- work together and with others to select the most appropriate tests that are most likely to inform a patient’s clinical management;
- process a variety of samples from patients, for example blood or tumour; and
- interpret the results from testing, alongside other experts, so that the right course of action can be taken for the patient and other family members.
Specifically, genetic technologists specialise in what’s known as ‘wet lab’ work – the processing of samples and the skilled operation of a wide range of apparatus and testing platforms within the laboratory. Clinical scientists, on the other hand, are office based. They are trained at postgraduate level in genomic science and have a deep understanding of the role that genetic variation plays in disease and knowledge of cellular-level processes. This knowledge enables them to play a leading role in the selection of appropriate tests that diagnose or inform the management of disease, as well as the interpretation of the often complex results that are returned from genomic testing. This interpretation is done alongside both the genetic technologists – who have detailed understanding of the testing processes and machinery – and other specialists including clinical bioinformaticians and medics. Clinical scientists are responsible for writing a report that goes back to the clinician managing a patient and their family, informing them of the results of genomic testing. They tend to specialise in either rare disease or cancer.
At a senior level, both genetic technologists and clinical scientists have a role in the implementation of new technology with hospital laboratories.
Genetic technologists spend the majority of their time in the laboratory and become proficient in performing certain functions/tests. In genomics, this is a specialist genomics laboratory – usually within a hospital. They may however attend meetings or training outside the lab.
Clinical scientists are office based, but they too are based within a hospital laboratory. Their work is mainly done at the computer and in meetings with other scientists, medics and health professionals. They may occasionally enter the laboratory to liaise with genetic technologists regarding the logging and processing of samples and the results from certain tests.
There are a variety of training routes for genetic technologists. Training is predominantly ‘on the job’ in the laboratory, where technologists learn how to perform a variety of specialist procedures to extract and prepare DNA for sequencing and then run genomic tests. Entry is possible at a variety of levels, from school-leaving age, depending on a person’s education and experience.
Clinical scientists are trained at postgraduate level in genomic science through an approved training programme such as the NHS Scientist Training Programme. This follows an undergraduate degree in a relevant subject, for example one of the life sciences – biology, genetics or biochemistry – or perhaps biomedical science or medical physics. To qualify as a consultant clinical scientist, they must complete an approved training programme such as the HSST, or apply for accreditation by providing a portfolio that demonstrates relevant experience. Due to the cutting-edge nature of their work, many clinical scientists also study PhDs in an area of particular interest to them as they progress in their careers.
Clinical bioinformaticians
Find out what it’s like to work as a clinical bioinformatician in the NHS.
A clinical bioinformatician in genomics uses expertise in both computer software and biosciences to design and run software pipelines for the analysis of genomic data.
This is a vital role, as the data generated from the sequencing of a human genome is far too large to be meaningfully analysed by people without error and in a reasonable timeframe. Clinical bioinformaticians are the people tasked with filtering and organising genomic data in line with the clinical question, so that their colleagues are presented with a manageable amount of relevant information to deal with.
The analysis of data
Clinical bioinformaticians design and run software pipelines for the analysis of genomic data.
They work as part of a genomics multidisciplinary team alongside clinical scientists, medics, genetic technologists and other colleagues, such as specialist nurses. As part of this team, they use their specialist knowledge of computer programming and genomics to manipulate computer software to try to answer a particular clinical question.
The bioinformatician’s work takes place after the sequencing machine has finished its run. It is their job to analyse, filter and organise the data generated by the sequencer so that the clinical team ultimately has a workable amount of relevant data to deal with.
Bioinformaticians will often specialise in a particular area – for example, in rare disease or cancer. This is becoming more common as the data generated by sequencing becomes more and more extensive and complex, and the knowledge required to analyse it becomes more specialist.
Broader responsibilities
While bioinformaticians are primarily focused on answering the clinical question, they are also vital to protecting the confidentiality and wishes of the patient; it is their responsibility to ensure that any information that the patient has requested to be hidden is not reported to the rest of the team.
Clinical bioinformaticians may be involved in education and will often oversee trainee bioinformaticians within the department.
All bioinformaticians must adhere to strict protocols when performing their analysis; but more senior bioinformaticians may have a role in the development of policy in this area and in communicating any new developments to the rest of the team.
More senior bioinformaticians may be involved with external organisations. For example, by contributing to national best practice guidelines, and maintaining the laboratory’s accreditation in line with internationally recognised ISO standards.
Clinical bioinformaticians in the NHS work in a regional genomics laboratory, usually located within a hospital.
They are office based, with the majority of their work done at a computer. They regularly attend multidisciplinary team meetings in the department to discuss patient cases, and they may also visit technician colleagues in the laboratory to liaise with them about testing.
Some bioinformaticians may be involved with research, which could see them visiting external organisations, for example with the BBSRC or the European Bioinformatics Institute.
Clinical bioinformaticians come from a variety of scientific backgrounds and have undergraduate and sometimes postgraduate degrees, most commonly in either a biological or computer science.
Many are now registered with the Health and Care Professions Council (HCPC) as clinical scientists. Registration follows after either successful completion of the three-year Scientist Training Programme, or being awarded a certificate of equivalence by the Academy of Healthcare Science (upon completion of a portfolio and a successful interview).
Genetic counsellors
Learn about the role of genetic counsellors in patient care and the widescale integration of genomics.
Genetic counsellors are patient-facing healthcare professionals specially trained to support patients through genomic testing and diagnoses.
They use expert knowledge of both genomics and counselling to ensure that those referred to them are offered genomic testing where appropriate, and to guide patients through the testing process and any results returned to them and their family.
Genetic counsellors assess genomic risk, communicate genomic information, and support individuals and families through genomic testing and diagnoses.
They work as part of a multidisciplinary team alongside medics, scientists, bioinformaticians and others, such as nurse specialists, to care for patients and families undergoing genomic testing. It is their responsibility to represent patients in these meetings and to communicate decisions and results back to their patients, ensuring that the patient has fully understood and is able to consider any options available to them.
The genetic counsellor’s work often overlaps with that of the clinical geneticist. Genetic counsellors may offer counselling to individuals and families once a diagnosis has been made – for example, after a child has been diagnosed with a rare disease – or they may receive referrals from individuals questioning their risk of inherited conditions. In these instances, the genetic counsellor will often manage families without the involvement of a clinical geneticist, ordering testing and liaising with general practitioners and specialist teams to recommend appropriate follow-up care.
As they progress through their careers, genetic counsellors often have the opportunity to specialise in a particular area of genomics – for example, in cancer genomics or prenatal diagnosis.
With the rapid expansion of genomics into mainstream specialties, genetic counsellors are highly valued for their specialist knowledge not only of genomics but of how best to communicate with and support patients. They are also, therefore, often involved in the education of healthcare professionals across the NHS to promote patient-centred care and consideration of the complexities of genomic testing.
Genetic counsellors are mostly based within the clinical genetics department of a hospital; however, they often travel to different hospitals to provide equitable access to genetics clinics more locally.
Counsellors may also have educational responsibilities requiring them to travel to other sites – for example, to teach at a higher education institution. They are often involved in educating other healthcare professionals in communicating genomics, which is becoming increasingly important across all areas of healthcare.
They may take part in work with professional bodies or external organisations, such as the Association of Genetic Nurses and Counsellors (AGNC) or Genomics England.
Genetic counsellors are regulated by the Genetic Counsellor Registration Board (GCRB), which is responsible for the development of curricula and professional standards as well as maintaining patient and public safety.
Most genetic counsellors come from either a science (such as genetics, psychology) or a nursing background, and are required to complete a postgraduate Master’s degree in genetic counselling.
For example, the National School of Healthcare Science runs a three-year programme in genomic counselling. This enables individuals to practise in the UK and be eligible for registration with the UK Genetic Counsellor Registration Board (GCRB).
Clinical geneticists
Hear from clinical geneticists about the role they play in diagnosis and management.
Clinical geneticists are medically trained doctors who specialise in genomic conditions – that is, conditions that are caused by, or they suspect are caused by, variations within an individual’s DNA.
They use a combination of medical knowledge and specialist understanding of molecular biology to diagnose and manage a range of patients at different stages of life and with various different clinical presentations.
Clinical geneticists work as part of a multidisciplinary team alongside clinical scientists, genetic technologists, bioinformaticians and other medics and clinicians in order to find answers for patients.
They see patients with a clinical presentation (known as a phenotype) that suggests a genetic/genomic condition. They receive referrals from GPs and other hospital specialists, such as paediatricians or cardiologists.
Geneticists see patients throughout life where genomics could be relevant. They may see a child with a rare disease, a woman whose unborn child may have a genetic diagnosis, or an adult with a newly diagnosed heart condition, for example.
Geneticists are responsible for the long-term medical care of a wide range of patients: both those diagnosed with genetic conditions – whom they manage throughout their lives, ensuring that they benefit from any advances in treatment as and when they emerge – and those with an undiagnosed rare disease, for whom they seek answers.
Some clinical geneticists will specialise in a particular area, for example in paediatrics or in cancer genomics.
In their medical practice, clinical geneticists are based in a specialist genetics department, usually within a large hospital, where they run patient clinics. They also run clinics at smaller local hospitals to ensure patients around the country have equitable access to genomic services.
Geneticists regularly attend multidisciplinary team meetings to discuss patient cases with other genomics and medical specialists. They may also be called to other departments in a hospital – for example, to a neonatal unit to make a diagnosis on a newborn baby. Though based in a specialist genetics department, they increasingly support colleagues from other medical specialties in the application of genomic medicine in their clinics.
Clinical geneticists may also have a role in education, for example at a university, particularly as they become more senior. They may also be involved with educating other healthcare professionals in genetics, which is becoming increasingly important across all areas of medicine. This work may require them to travel to other sites – for example, a higher education institution or national/international conferences.
They may take part in work with societies and organisations, such as the British Society of Genetic Medicine or Genomics England, where they have a role in the development of curricula and professional standards.
All clinical geneticists are qualified doctors, with an undergraduate degree in medicine. Like all doctors, they undertake foundation’ training (around two years), which involves rotations in medicine, surgery and general practice.
Following this, they do further training in medicine or paediatrics* (two to three years), before applying to a specialty training programme in genetics, which lasts for four years. Many genetics trainees choose to take some time out of their clinical training to do research – for example, to complete a PhD in a topic they have become particularly interested in.
* This will be changing with a new curriculum, with applications accepted from all patient-facing specialties.
