genetics services

Breakthroughs in genetics tend to hit the headlines, but ensuring good management of burgeoning genetics services is just as important, and has led to a return to regional commissioning. Jenny Bryan reports

On 1 April, purchasing of genetics services officially became the responsibility of regional specialised commissioning groups - much to the relief of clinical and laboratory geneticists. Concerned about the risk of fragmentation of services if primary care groups took charge, those who see families and carry out the genetic tests are glad that commissioning will once more come under regional control, as it did before the creation of the internal market.

'It was a nightmare when our clinical services were devolved to health authorities because we had to meet each one separately,' recalls Val Davison, director of genetics services in the West Midlands. 'Particular problems arose when we needed to see extended families spread across several HAs.'

With clinical and laboratory genetics services for the region concentrated on a single site at Birmingham Women's Hospital, inequalities of service have proved less of a problem than in some areas. But the rapidly escalating workload is a sign to other regions of what is in store.

'The centre handles over 3,000 clinical referrals and 20,000 samples a year and we are predicting a 30 per cent increase in workload over the next five years,' explains John Summers, director of finance at the hospital.

Of particular concern from a budgetary viewpoint is the increasing cost of out-of-area referrals, up from£80,000 in 1997-98 to£250,000 in 1998- 99. This trend can be seen across the country (table 1).

'In the past, we have used our extra-contractual income to fund new developments, but the money is paid in arrears and if the cost increases at the current rate we simply won't have the money available to pay for expansion,' Mr Summers points out. Regional centres like that at Birmingham are awash with advice about how to proceed but, according to Professor Peter Farndon, co-author of last year's Royal College of Physicians' report Commissioning Clinical Genetics Services, too many of the recommendations are coming from people with little first-hand experience of genetics.

'Much of the advice is factually incorrect and comes from head-in-the- sand or pie-in-the-sky people. A lot of these premises are simply not founded on scientific fact,' he says.

As a result, the royal colleges of physicians and pathologists have joined forces with the British Society of Human Genetics to draw up their own recommendations for the future development of genetics services in Britain.

The BSHG is already looking at standards of genetic testing around the country with the aim of drawing up national guidelines for submission to the National Institute for Clinical Excellence. Advice on which tests should be available nationally, where they should be carried out and how they should be funded will be included.

In Commissioning Clinical Genetics Services, the RCP advises a continuation of the 'hub and spoke' model, with central facilities linked to genetic laboratories and academic units, and a series of district-based clinics providing access to the service. Genetic services are already largely outpatient-based, with clinics often held at district hospitals. Since GPs are not, in general, keen to get involved in providing genetic information, one proposal is that specially trained nurses should provide the link between primary and secondary care.

The RCP group stressed the importance of commissioning a total service, not just the tests themselves. Consultations are frequently complex and time-consuming and extend well beyond the presenting patient.

Extensive counselling is required to ensure that families understand the implications of results before tests are carried out. Genetic registers should be set up and maintained and undergraduate and postgraduate training programmes implemented. The RCP report recommends that a general clinical genetics service should have a minimum of two consultants and four co- workers per million population, not including specialist staff for cancer genetics. It also advises that each region should have at least one consultant in public health medicine with specific experience of genetic services to provide input to the RSCG.

Some regions have made more progress than others in developing genetics services. In 1998, the former South Thames region published a specification detailing required clinical and laboratory services, including cancer genetics, with staffing, waiting times and quality assurance levels.

The establishment of the Public Health Genetics Network, co-ordinated via the Public Health Genetics Unit in Cambridge (see feature, pages 24- 25) has proved a useful source of information for those still struggling to push genetics up their HA's agenda.

Dr Paula Grey, director of public health for North Cheshire Health, is concentrating much of her efforts on improving equity of access to genetics services at the two centres - Manchester and Liverpool - in the area. 'Many of the developments which have taken place in the past have been on an ad hoc basis and we are now trying to go forward on a more systematic basis so that everyone has access to similar, appropriate services,' she explains.

In North Nottinghamshire, consultant in public health medicine Dr Richard Richards is trying to bring some order to the services provided by centres in Sheffield, Nottingham and Leicester.

'We have agreed the ground rules, produced a strategy for services across Trent and hope to produce a service specification within the next financial year,' he explains.

Those trying to establish equitable services across large areas of countryside must frequently try to marry specific interests and enthusiasms of geneticists in one centre with the much broader needs of the community. Thus, a trust may appoint a cancer specialist with an interest in genetics to satisfy its own staff, but this may clash with, or duplicate, plans for cancer genetics in another part of the region.

In Scotland, health boards were instructed last year to find out what genetics services were available in their areas and to ensure that these were being provided by suitably qualified personnel. But it now rests with the embryonic Scottish Health Technology Assessment Centre to decide which services should move from research to mainstream medicine.

As purchasers and providers around the country watch and wait to see how genetics services develop, patient groups are expressing their own concerns about potential troublespots.

John Gillot, policy officer at the Genetics Interest Group, points out that future genetics services need to be integrated into the clinical settings in which patients are likely to find themselves.

'The diagnosis is just the beginning. People with genetic conditions need a lot of medical care from a variety of specialties, and the course of a condition such as tuberous sclerosis can vary enormously from patient to patient,' he explains.

So a child whose mental problems are the most obvious signs of a genetic disorder may get excellent psychological support but, without an integrated service, may miss out completely on treatment for unrecognised physical problems which are exacerbating the mental symptoms.

Considerable uncertainty still surrounds the day-to-day workings of the new RSCGs. But the strongest message from all those with an interest in the development of genetics in the NHS is about the need to plan ahead for a service which will ultimately leave no disease area untouched.