Clinical genetics

Fiona Lalloo demystifies what is involved in this rapidly expanding specialty

Mentioning that I'm a clinical geneticist in a conversation is a sure fire way of eliciting a blank stare for a few moments followed by the words "But what do you actually do?" Well, the first point is that we are "real doctors" and we don't spend our lives in laboratories, either molecular or cytogenetic. A recent issue of the BMJ (28 April 2001) was entirely devoted to new advances in genetics.¹ This focused on its current and potential impact on medicine. However, the specialty of clinical genetics remains a mystery.

The role of the clinical geneticist

One of the best kept secrets in medicine is the wide variety of issues covered by clinical genetics. It is one of the last truly generalised specialties, encompassing both adult and paediatric medicine. It is also unique in the approach to caring for families as well as individuals within a family. The Clinical Genetics Society recently issued a document summarising the roles of clinical geneticists.² These include

• Diagnosis of genetic disorders affecting all ages and all body systems, birth defects, and developmental disorders
• Investigation and assessment of genetic risk
• Genetic counselling
• Where appropriate, follow up and support and coordination of health surveillance for specific genetic conditions
• Where appropriate, the offer of genetic services to extended families
• Liaison with genetic laboratories (both molecular and cytogenetic)
• Education and training of genetic professionals and other healthcare professionals
• Research--clinical, biomedical, psychosocial, and service related.

On a day to day basis, genetics is an outpatient specialty with a strong emphasis on time spent with families. An average genetic consultation lasts between 45 and 60 minutes. A consultation could be counselling a pregnant couple about a fetal anomaly, assessing a dysmorphic child and discussing the risk of recurrence, assessing the risks of malignancy in a family with a history of cancer, explaining chromosomal rearrangements and their implications, or guiding patients through predictive genetic testing protocols. The variety of problems requires both a detailed knowledge of the subject and an ability to explain complex issues to families in a way they can understand. The wide range of potential problems demands a broad understanding of the whole of medicine. It also requires an understanding of the background science and an ability to discuss potential problems and solutions with scientists in both molecular and cytogenetic laboratories. Co-counsellors, either genetic nurses or genetic associates, are often present in counselling sessions. Clinical geneticists therefore work as part of a team within a regional genetics service including doctors, genetic associates or nurses, and scientists. The ability to liaise with other members of the genetics service and with a variety of other healthcare professionals is vital.

Traditionally, genetics has been seen as a paediatric specialty. However, adult genetics is a large part of the workload and is increasing with the rapid expansion of knowledge of genetics of common disorders. Cancer genetics now accounts for 30-40% of the workload in most centres, and doctors with a background in adult medicine are therefore eminently suitable for a career in genetics. It is common for doctors to retain their special interests after moving into genetics: for example, oncologists specialise in cancer genetics, an interest in paediatric neurology may develop into an interest in neuromuscular genetics, psychiatry translates into an interest in the genetics of dementias, and general paediatricians often become interested in dysmorphology. Although there is usually a parallel strand of interest in clinical genetics, it is not a widely publicised specialty in either adult or paediatric medicine.

Regional genetics centres

A potential disadvantage to a career in genetics is that there is usually only one department in a major city (with the exception of London). This means that if there are not any training numbers within your region for a few months or years then you will have to move. It also means that a training programme is entirely within your department, although there are discussions under way to allow trainees from small centres to move to larger centres for a period of time. In practice, individuals will probably have to organise this for themselves.

There are currently 25 regional genetics centres covering the United Kingdom, with one centre in the Republic of Ireland. To date, there are about 100 consultants in clinical genetics; faces at national meetings therefore tend to be instantly recognisable and friendly. A small specialty also means that most of the trainees are known around the country as well as in their own department (this may or may not be an advantage depending on your point of view).

Some consultants subspecialise, such as in cancer genetics, whereas others cover all referrals within a geographical region. The organisation of consultant posts varies with each centre. Many centres offer joint multidisciplinary clinics with ophthalmologists, neurologists, oncologists, or fetal management teams. Consultants are expected to be available out of hours to give advice, especially for regional neonatal units.

As well as their clinical commitment, most consultants maintain an interest in research, often being involved in both clinical and molecular research. The rapid rate of progress in genetics requires constant updating of information, and regular attendance at local, national, and international meetings is therefore necessary. Currently, about two thirds of consultant posts are in the NHS, with the rest being academic posts.

Training

Entry to the specialty is at specialist registrar level after basic training that should preferably include both adult and paediatric medicine (two years of adult medicine and one year of paediatrics or vice versa). However, the minimum criteria are for two years of general professional training. Some centres will organise a placement with a community paediatrician if your previous experience doesn't include paediatrics. Candidates must also have an MRCP, either adult or paediatrics, or equivalent. This allows for centres to appoint exceptional candidates with, for example, an MRCOG. The Calman training programme is over four years, of which at least three years must be in clinical training. Generally, research is expected to be undertaken during training, ideally for an MD or PhD. Most trainees take time out of their training to study for a postgraduate degree. One year of this is accredited toward the certificate of completion of specialist training (CCST).

The training programmes obviously vary with the regional centres, with major differences mainly due to differences in size of the centres. For example, training in a centre with four specialist registrars and eight consultants is a very different experience from being the only trainee in a centre with two consultants. However, training broadly involves dysmorphology, neurogenetics (muscular dystrophies, Huntington's disease, dementias, spinal muscular atrophies, etc), cancer genetics, metabolic genetics, prenatal diagnosis, and fetal dysmorphology.

Academic training offers the option of PhD followed by flexible clinical training in clinical fellowship posts. Clinician fellowships are usually paid at the equivalent NHS pay scale. Trainees have often developed a special interest outside genetics and then translate this into clinical genetics through research.

Given the huge number of genetic conditions (12651 entries in Online Mendelian Inheritance in Man (OMIM)), specialist registrars are expected to be able to use information technology to gather information about a given condition (rather than keeping all the information in their heads) and then be able to interpret and convey the appropriate information to patients or families. The use of digital imaging systems for clinical photographs of dysmorphic children also ensures that trainees become proficient in using information technology.

Most centres do not offer a registrar led out of hours service, although a handful of specialist registrars in some centres carry a bleep during the day to deal with queries from general practitioners, ward referrals (usually neonatal referrals), scan referrals, or fetal examination. This does mean that life is very civilised compared with most medical jobs. Rather than spending evenings and weekends on call, we write MDs, PhDs, book chapters, papers, reviews, or Career Focus articles.

Future of genetics

Given the advances expected from the human genome project, someone is going to need to be the interface between scientists and patients. Not only will geneticists be involved in the clinical management of patients and families but also the education of other professionals. Genetics will permeate all branches of medicine. An integrated view of clinical genetics suggests that regional genetics centres will play a lead role in linking the needs of patients at the primary care level with the specialised care at secondary and tertiary level.³

Primary care groups will therefore need our input, ranging from referral guidance to supporting those dealing with patients with genetic issues in the community.

In a speech in Newcastle earlier this year, the health secretary, Alan Milburn, suggested that more money should be put into NHS genetics services. He also envisioned a doubling of the numbers of consultants in the next five years--encouraging news for anyone considering clinical genetics as a career. It is also worth considering that most of these posts will be in adult genetics, as most consultants currently specialise in paediatric genetics.

So what do I do? My job involves counselling and spending time with patients, assessing the risk of genetic conditions, and helping individuals and families decide how best to manage any problems. In conjunction, I have the intellectual stimulation of the most rapidly advancing field of medicine, and all within the framework of civilised hours. I can't think of a better combination.

1. BMJ 2001;322:1005-72 (theme issue Genetics: delivering the dreams?) (http://bmj.com/content/vol322/
   issue7293/).
2. Clinical Genetics Society Council. Role of the clinical geneticist. British Society of Human Genetics Newsletter, 2000 June (www.bshg.org.uk/Official\%20Docs/
   clingenrole.htm).
3. Donnai D, Elles R. Integrated regional genetic services: current and future provision. BMJ 2001;322:1048-51.