Clinical geneticsBMJ 2004; 328 doi: https://doi.org/10.1136/bmj.328.7447.s175 (Published 01 May 2004) Cite this as: BMJ 2004;328:s175
- Alexandra Murray, specialist registrar in clinical genetics
Alexandra Murray offers a guide to a specialty that is interesting, challenging, and varied; spans both adult and paediatric medicine; and has civilised working hours
You may not have a clear idea of what a clinical geneticist does, but if you haven't already broken into a cold sweat and turned the page in horror, read on. Don't worry if you can't remember the difference between meiosis and mitosis, transcription and translation, or an exon and an intron. The science is an important and necessary part of our specialty, but there is so much more as well.
What do we do?
We don't spend all day looking down a microscope, which is what people usually imagine when I tell them I'm a clinical geneticist. We investigate, diagnose, and counsel individuals who may have a genetic condition and their families (see web extra). Clinical genetics encompasses a wide range of conditions, and it is one of the few remaining specialties that provides for both adults and children (box 1).
What is the work like?
One of the things that sets clinical genetics apart from most other specialties is the amount of time we are able to spend with our patients. Most consultations last between 45 and 60 minutes, which means that we can really listen to the patients' concerns and take our time explaining the complex issues and risks entailed. On average, we see about eight to ten patients a week, although this varies between different centres and subspecialties.
Clinics may be general or may specialise in a particular type of disorder such as familial cancer syndromes, Huntington's disease, or muscular dystrophy. Many centres also hold joint multidisciplinary clinics with other specialties—for example, ophthalmology, neurology, or endocrinology. A typical general clinic could include a dysmorphic child, a couple with a history of recurrent miscarriages due to a chromosomal rearrangement, a patient with a family history of a genetic condition asking about his or her risks of being affected and the possibility of genetic testing, and the parents of a child who died from a genetic condition asking about their options in a future pregnancy.
Box 1: Who is referred to the genetics service?
Individuals with a known or suspected genetic condition
Family members of those with a known or suspected genetic condition
Children with dysmorphic features or learning difficulties, or both
Individuals with a family history of cancer—for example, breast cancer or bowel cancer
Couples with a history of recurrent miscarriages
Couples or families following the death of a child from a known or suspected genetic condition
Couples for whom an abnormality with potential genetic implications has been detected during one or more pregnancies.
As clinical geneticists we work as part of a multidisciplinary team with genetic nurses and counsellors (GNCs) and laboratory scientists. GNCs include nurses and midwives who have specialised in genetics and science graduates who have trained specifically in genetic counselling. In some centres the GNCs visit patients at home before their first clinic appointment to gather appropriate information and draw up a family tree. Appointments may be with a geneticist, a GNC, or both. We routinely send clinic letters to both the referring doctor or general practitioner (GP) and the patient, summarising the discussion and any decisions made during the appointment. We liaise closely with molecular scientists and cytogeneticists, who perform most of the tests we request and are invaluable in the interpretation of unexpected or unusual results.
Outside the clinic
When we aren't in clinic most of our time is spent in an office in front of a computer. Thanks to the wonders of information technology, we have access to a wide variety of resources such as Medline, Online Mendelian Inheritance in Man (OMIM), Gene Clinics, and Oxford Medical Database. These are invaluable as it is impossible to carry all the necessary information about every rare syndrome or condition in our heads.
We also attend local, regional, national, and international meetings to share experiences with colleagues, discuss difficult or interesting cases, keep abreast of new developments, and present our research findings. Clinical genetics is still a relatively small specialty so both consultants and trainees are usually well known around the United Kingdom, which makes these meetings and conferences sociable as well as interesting.
Out of hours
Most centres do not offer an out of hours on-call service but there is a rota for queries from GPs or ward referrals (usually from special care baby units) during normal working hours. In a few centres consultants are expected to be available out of hours to give genetics advice, but trainees have no out of hours commitment.`⇓
Regional genetics centres
Clinical geneticists are based in regional genetics centres. These are usually located in teaching hospitals in major cities and, with the exception of London, each region has only one centre. There are 23 regional genetics centres in the United Kingdom and one in the Republic of Ireland. Each centre covers the whole geographical region, and although there is a central base, clinics are held regularly in district general hospitals throughout the region. Depending on the size of the region this can entail travelling long distances—for example, from Cardiff to Aberystwyth, which is a beautiful drive in good weather but is much less fun in dense fog behind a tractor. These journeys are not so frequent that they are unmanageable, but it does make a driving licence almost essential.
Most consultants have a subspecialty (for example, cancer genetics, neurogenetics, or dysmorphology), but many also cover a geographical district for general clinics. Trainees usually rotate every six to twelve months between different teams, sometimes working with just one consultant and sometimes with several in one specialty (for example, cancer genetics). The exact arrangements vary considerably between centres, depending on the size of the department, organisation of clinics, and number of trainees (anything from one to six). Most trainees spend the whole of their training in one centre. However, in some regions such as London it is now usual to spend part of the four years in another centre, and something similar is being considered in other regions. GNCs are based either in the regional centres or in the districts.
The training programme takes four years as a specialist registrar. Research is encouraged, and many trainees complete a research degree either before entering a training programme or by taking time out during training. A maximum of one year of research can count towards training.
Applicants must have completed at least two years of general professional training, although three years are preferred. Ideally, they should have postregistration experience in both adult medicine and paediatrics. They should have a postgraduate qualification, usually membership of the Royal College of Physicians (MRCP) or the Royal College of Paediatrics and Child Health (MRCPCH), but applicants with membership of the Royal College of General Practitioners (MRCGP), the Royal College of Obstetricians and Gynaecologists (MRCOG), or the Royal College of Psychiatrists (MRCPsych) may be considered if they have the appropriate experience of both adult and paediatric medicine.⇓
National training numbers
National training numbers are advertised regularly in the BMJ Careers—in 2003 about 20 new specialist registrars were appointed. Posts are becoming more competitive and standards are getting higher, but most people who are serious about a career in genetics seem to find a post eventually. Unfortunately, not every region has a number available every year and so prospective geneticists may need to move.
Areas of training
The main areas covered during training include paediatric genetics and dysmorphology, neurogenetics, cancer genetics, prenatal diagnosis and fetal dysmorphology, metabolic genetics, and laboratory genetics. Academic training is also possible combining research with clinical training, and about one third of consultant posts are academic appointments.
Essential qualities for a clinical geneticist
You must have good communication skills and be able to listen well and understand the patient's agenda and concerns, which are often different from those of the referring doctor (box 2). You must be able to impart often complex information in a way that is clear and appropriate to the level of understanding of the patient, avoiding jargon or medical terminology where possible. It is important to be non-directive in your approach, helping the patient to come to a decision without influencing them or promoting one choice over another. Time management is also important as your working week is much less structured than in many other specialties and the pace of life is different from acute specialties. You must also be able to work as part of a team. And perhaps most important of all, you must have an interest in genetics.
Box 2: Essential qualities
Good communication skills
Good time management skills
Ability to work as part of a team.
The future of genetics
The field of genetics is changing constantly, and every week there are new developments that can directly affect the care we offer our patients. As new genes are identified and new tests become available we can improve our understanding of a greater number of genetic conditions and provide better support and information for our patients. In addition, an understanding of genetic conditions can contribute directly to our understanding of more common medical conditions such as cancer, heart disease, and diabetes.⇓
In recent years the government has recognised the importance of genetics and has allocated considerable funding for the development of genetics services and a network of genetics knowledge parks. These are being established in London, Oxford, Cambridge, Newcastle and the north west of England, and Cardiff (jointly funded by the Welsh Assembly and the Welsh Development Agency). The purpose of the gene parks is to undertake genetics research, facilitate rapid transfer of new findings to patient care, and allow commercial exploitation of new discoveries. They will also work together to develop appropriate economic, ethical, legal, and social frameworks for the effective delivery of genetic services and for a better public understanding of human genetics.
New consultant posts
Genetics is expanding as a clinical specialty, and in recent years many new consultant posts have been created. Most clinical geneticists have traditionally come from a background in paediatrics and have retained this interest, choosing to specialise in dysmorphology and paediatric genetics. However, as cancer genetics and adult genetics become an increasingly large part of the workload, new posts are likely to reflect this and more doctors with a background in adult medicine or oncology are choosing a career in clinical genetics.
Box 3: Advantages and disadvantages
Varied patient mix
Plenty of time with each patient
Exciting, changing specialty
Civilised working hours
Friendly, small specialty.
Isolation, especially in small centres
Low or no pay banding
Relatively few jobs.
Advantages and disadvantages
I imagine most of the advantages of clinical genetics are fairly obvious, and I can't think of many disadvantages (box 3). However, if you are seriously considering a career in clinical genetics a few points are worth considering. Since clinical genetics is so different from acute specialties it can take quite a while to adjust to the different way of working. Interaction with colleagues in other specialties may be small, and you could feel isolated. Also, your friends will probably never really understand what you do. Mine seem to think I spend my days with a pack of coloured crayons drawing family trees.
Since most regional genetic centres are based in tertiary referral centres those of you who do not like city life must to be prepared to commute, and it is difficult to do genetics if you do not drive. Finally, although finances may not be your main concern, it is worth remembering that few specialist registrar posts in genetics attract any pay banding.
Go to bmjcareers.com/careerfocus to read what a typical week in clinical genetics is like