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Clinical genetics: a guide to a career in the specialty

Alexandra Murray and Vani Jain offer a guide to a career in a challenging and varied specialty that spans adult and paediatric medicine and has civilised working hours

Clinical geneticists investigate, diagnose, and counsel people who may have a genetic condition, and their families. Clinical genetics encompasses a wide range of conditions, and it is one of the few remaining specialties that provide care for both adults and children (see box 1).

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 their concerns and take our time explaining the complex issues and risks entailed. On average, we see about eight to 10 patients a week, although this varies between different centres and subspecialties.

Clinics

Clinics can be general or they can specialise in a particular type of disorder, such as familial cancer syndromes, Huntington’s disease, or muscular dystrophy.[1] [2] 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 owing 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.

Teamwork

As clinical geneticists we work as part of a multidisciplinary team with genetic counsellors and laboratory scientists.[3] Genetic counsellors are science graduates, nurses, or midwives who have trained specifically in genetic counselling. Clinic appointments may be with a geneticist, a genetic counsellor, or both. In some centres genetic counsellors see patients before the geneticist does to gather appropriate information and draw up a family tree. We routinely send clinic letters to the referring doctor or general practitioner and the patient, summarising the discussion and any decisions made during the appointment. We liaise closely with molecular genetic and cytogenetic scientists, who perform most of the tests we request and are invaluable in the interpretation of unexpected or unusual results.[4] [5]

Outside the clinic

When we aren’t in clinic, most of our time is spent in an office in front of a computer. We use a wide variety of resources, such as PubMed, Online Mendelian Inheritance in Man (OMIM), Gene Reviews, and London Medical Databases. These are invaluable as it is impossible to carry in our heads all the necessary information about every rare syndrome or condition.

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 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 usually a rota for queries from other health professionals or ward referrals (usually from paediatric wards and neonatal units) during normal working hours. In a few centres consultants are expected to be available out of hours to give 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 geographic 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. These journeys are not so frequent that they are unmanageable, but it does make a driving licence almost essential.

Working arrangements

Most consultants have a subspecialty (for example, cancer genetics, neurogenetics, or dysmorphology), but many also cover a geographic district for general clinics. Trainees usually rotate every six to 12 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.[6]

Training

There are currently about 75 trainees in clinical genetics nationally. The training programme takes four years as a specialty registrar. Research is encouraged, and many trainees complete a research degree or project either before entering a training programme or by taking time out during training. Some centres allow time for a research project within the four years of training. A maximum of one year of research can count towards training, and part time training is supported. A recent change to training is the specialty certificate examination (SCE), which is mandatory for obtaining a certificate of completion of training in clinical genetics.

Minimum requirements

Training in clinical genetics starts at ST3 level. Applicants must have completed a minimum of 48 months in medicine or paediatrics training. They must also have achieved full membership of the Royal College of Physicians (MRCP) or the Royal College of Paediatrics and Child Health (MRCPCH) by the time they take up their post. Applications and interviews for clinical genetics are conducted nationally, with two rounds every year. The person specification for ST3 clinical genetics can be found on the ST3 recruitment website (see further information box).

National training numbers

National training numbers are advertised in BMJ Careers. In 2013 about 15 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. Not every region has a number available every year so prospective geneticists may need to move.

Areas of training

The main areas covered during training are paediatric genetics and dysmorphology, neurogenetics, cancer genetics, prenatal diagnosis and fetal dysmorphology, cardiac genetics, metabolic genetics, and laboratory genetics. There are an increasing number of courses available in many of these areas as well as national meetings that trainees are encouraged to attend. Academic training is also possible, combining research with clinical training, and a considerable number 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. 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 patients 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 that of acute specialties. You must also be able to work as part of a team.

The future

The field of genetics is constantly changing. Twelve years on from the completion of the human genome project, whole genome and exome sequencing can now provide the same information for a fraction of the cost and time. These technologies and the use of microarrays have added a new and exciting level of complexity to the way we investigate and manage patients.[7]

If you are seriously considering a career in clinical genetics a few points are worth considering. As 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 minimal, and you could feel isolated. Also, your friends will probably never really understand what you do.

As most regional genetic centres are based in tertiary referral centres those of you who do not like city life must 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 specialty registrar posts in genetics attract no pay banding.

Box 1: Who is referred to the genetics service?

People 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

People with a family history of cancer—for example, breast cancer or bowel cancer

People with a chromosomal alteration found on a microarray (a DNA chip)

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.

 

 

Further information British Society for Genetic Medicine—www.bsgm.org.uk

Clinical Genetics Society—www.clingensoc.org

Joint Royal Colleges of Physicians’ Training Board—www.jrcptb.org.uk

ST3 recruitment—www.st3recruitment.org.uk/

Competing interests: We have read and understood BMJ’s policy on declaration of interests and declare that we have no competing interests.

References Bissler JJ,  Kingswood JC, Radzikowska E, et al. Everolimus for angiomyolipomata associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial. Lancet  2013;381:817-24. Burn J, Gerdes M, Macrae F , et al (2011). Long-term effect of aspirin on cancer risk in carriers of hereditary colorectal cancer: an analysis from the CAPP2 randomised control trial. Lancet  2011;378:2081-7. Bushby K,  Finkel R, Wong B, et al. Ataluren treatment of patients with nonsense mutation dystrophinopathy. Muscle Nerve   2014;50:477-87. Davies JC, Wainwright CE, Canny GJ, et al.   Efficacy and safety of ivacaftor in patients aged 6 to 11 years with cystic fibrosis with a G551D  mutation. Am J Resp Crit Care  2013;187:1219-25. Krueger DA. Everolimus for subependymal giant-cell astrocytomas in tuberous sclerosis. N Engl J Med  2010;363:1801-11. LaCroix AZ, Powles T, Osborne CK, et al.   (2010) Breast cancer incidence in the randomized PEARL trial of Lasofoxifene in postmenopausal osteoporotic women. J Natl Cancer Inst  2010;102:1706-15. National Institute for Health and Care Excellence. Guidelines 2013. CG164: Familial breast cancer. www.nice.org.uk/guidance/CG164. Alexandra Murray consultant in clinical genetics  Vani Jain year four specialty trainee in clinical genetics Institute of Medical Genetics, University Hospital of Wales, Wales

 alex.murray@wales.nhs.uk

 

By Alexandra Murray, Vani Jain
Published: 02 Jul 2015