Integrated regional genetic services: current and future provisionCommentary: The future development of regional genetic services will rely on partnerships
BMJ 2001; 322 doi: https://doi.org/10.1136/bmj.322.7293.1048 (Published 28 April 2001) Cite this as: BMJ 2001;322:1048All rapid responses
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Editor-Donnai and Elles 1 in their recent article clearly outline the
potential role for the specialist genetic services at this important time.
Together with its commentary emphasis is placed on the role of genetic
counsellors and the need to work in partnership with other health care
providers 2.
The argument about the need for dissemination of genetic knowledge
throughout the whole of health care has been well rehearsed 3. The word
“partnership” however, implies a two-way transfer of knowledge and skills
and in the debate to date there has been little consideration of the need
for a reciprocal transfer of skills and knowledge from specialities such
as public health and secondary and primary care into the education of the
genetic specialists. In addition, if the role of genetic testing in some
cases becomes case identification with the purpose of initiating
management or treatment then the specialist genetic services need to work
closely with their colleagues who will provide the medical management of
patients and their families.
As stated by Donnai and Elles the biggest uncertainty surrounding the
'New Genetics' concerns the large scale screening of healthy people for
susceptibility to common diseases. The evaluation of these new
developments will require true partnerships to be established between the
specialist genetic services and other specialities.
The development of cancer genetic services has led to an increasing
awareness of family history as a screening tool for identifying women at
high risk of developing breast cancer. However as illustrated by Lukasson
et al 4, this has meant an increasing demand for mammographic screening
for which the evidence base is not secure. This has led to conflicting
guidelines and disparate service provision. If we take the example of
haemochromatosis, the skills needed to evaluate service provision for this
condition together with possible screening programmes involve a
partnership between public health specialists, physicians, primary care
specialists and geneticists.
If part of the expansion of the pool of genetic expertise is to be in
the form of genetic counsellors then particular attention needs to be paid
to their education and preparation for practice. The Association of
Genetic Nurses and Counsellors is in the process of establishing an
accreditation and education framework. If genetic counsellors are to be
the link between the specialist services and other specialities, then the
transfer of knowledge and skills has to be reciprocal in order that real
partnerships can be created.
1. Donnai D, Elles R Integrated regional genetic services: current
and future provision. BMJ 2001;322:1048-1051
2. Ravine D, Sampson J Commentary:The future development of regional
genetic services will rely on partnerships. BMJ 2001;322:1051-1052
3. Emery J, Hayflick S. The challenge of integrating genetic medicine
into primary care. BMJ 2001;322:1027-1030
4. Lucassen A, Watson E, Eccles D. Evidence based case report: Advice
about mammography for a young woman with a family history of breast
cancer. BMJ 2001;322:1040-1042
Christine Patch
Genetic Counsellor/Research Fellow
Health Care Research Unit,
Level B (805) South Academic Block,
Southampton General Hospital,
Tremona Rd,
Southampton SO16 6YD
e-mail cp2@soton.ac.uk
Dr Paul Roderick
Senior Lecturer in Public Health
Health Care Research Unit,
Level B (805) South Academic Block,
Southampton General Hospital,
Tremona Rd,
Southampton SO16 6YD
Dr William Rosenberg
Senior Lecturer
Division of Infection, Inflammation and Repair,
University Department of Medicine,
Level D (811) South Academic Block,
Southampton General Hospital,
Tremona Rd,
Southampton SO16 6YD
Competing interests None
Competing interests: No competing interests
Networks in Neurogenetics
Sir,
Donnai and Elles argue compellingly for increased networks in the delivery
of genetic services, but do not specify the discipline of neurogenetics.
The impact of the "new genetics" on neurology has been substantial, but
the incoorporation of these advances into routine clinical practice has
been slow, and in some circles perceived to be of little or no importance
in the management of patients.
A survey of members of the Association of British Neurologists in
1998/99 elicited a response rate of 449/648 (in the case of Consultants
representing 84% of the UK total). Of the 37 units represented, a
neurogenetics clinic was held in 27. All were attended by a clinical
geneticist, a neurologist participated in 16 and only 3 involved
therapists, possibly representing a bias towards diagnosis rather than
treatment. The spectrum of disorders seen was wide and included muscular
dystrophy, hereditary ataxia, spastic paraparesis, mitochondrial
cytopathy, hereditary neuropathy, channel disorders and dementia. Most
centres reported easy accessibility to specialist laboratories, usually at
their local teaching hospital (23) or the National Hospital, Queen Square
(21). Counselling was carried out in all centres, by the geneticist or the
neurologist, and only a few respondents expressed reservations about the
need to counsel before performing genetic tests.
On the whole, the respondents to this survey were enthusiastic about
the subject, appeared wanting to embrace the advances in the field for the
benefit of their patients and were appreciative of the support they
received from their local geneticists and laboratories. However, they
pointed out that the delivery of neurogenetics services was currently
patchy and poorly coordinated, and tended to reflect local interests and
expertise (if lucky) rather than clinical need. If the recent scientific
advances and the enthusiasm and goodwill of clinicians are to be harnessed
for the benefit of patients, rapid developments in the local provision of
neurogenetics services are required, coupled with better communication
(along the lines Donnai and Elles advocate) with national centres of
expertise.
Competing interests: No competing interests