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APPENDIX 9: PROPOSED DEMONSTRATION PROJECT - EMPLOYMENT OF GENERAL PRACTITIONERS TO DEVELOP A SHARED CARE MODEL FOR PATIENTS WITH GENETIC CONDITIONS ACROSS SCOTLAND
Even though individually genetic disorders may be considered rare, the combined national burden of single gene disorders to health and social services is large. There are over 4,000 single gene disorders described, and overall they affect more than 1 in 500 in the population. However, even at this frequency any one general practitioner ( GP), is unlikely to have more than one patient or family with any particular genetic condition. An individual genetic service may have over 50 patients with the same disorder within their region.
Genetic disorders are often complex and affect many different systems of the body so that affected patients may be at risk of a variety of rare and unexpected complications. For example, the follow-up of a patient with Marfan's syndrome, may require input from cardiologists, orthopaedic surgeons and ophthalmologists, as well as clinical geneticists. The comparative rarity of such conditions make it very difficult for a GP or a hospital specialist to be aware of the complications which present a risk, or of the most appropriate treatment and follow-up for such patients. Hence, individuals with long-term genetic disorders comprise a disadvantaged group of individuals that have complex needs and requirements for clinical surveillance and management. These requirements are difficult to meet within the current structure of healthcare and the arrangements for the follow-up of patients with these conditions vary across Scotland. Some examples of genetic disorders which require routine, regular follow-up are - Huntington's disease, myotonic dystrophy, Marfan's syndrome and neurofibromatosis type 1.
In Scotland, the Clinical Genetics Services have played a major role in coordinating the follow-up of patients with genetic conditions. Scottish care pathways have been developed for the management of the more 'common' genetic conditions, such as Marfan's syndrome and Myotonic Dystrophy. However, as well as this group of patients, there is emerging evidence of a requirement to follow-up groups of patients with less common genetic problems such as Turner's syndrome (a chromosomal disorder) who are at risk from bicuspid aortic valve and aortic dissection. With increasing pressure on clinician time from cancer genetic referrals and waiting list targets, it is now more difficult to find space for follow-up activity within existing genetics clinics.
Clinical geneticists have traditionally not been involved in the prescription of medication for patients. With the development of some effective treatments for symptoms of genetic disease, it is important that patients have access to the benefits of these without having to wait for an appointment to see a further hospital specialist (for example a neurologist). Such involvement with management and prescription of treatment would require better liaison with a patient's GP and the availability of an increased number of follow-up appointment slots within the clinical genetics service. This would be difficult to envisage within the current staffing of most clinical genetics departments.
In summary the proposal suggests the employment of two part-time GPs with a special interest in genetics, one within each of the genetics centres in Dundee and Aberdeen, with the remit of coordinating follow-up for patients with genetic disorders. Such an arrangement would enable:
- The establishment of multi-disciplinary follow-up 'clinics' for patients with the more common, chronic single gene genetic disorders which could be run in partnership with other agencies within a CHP.
- Improved long-term follow-up of patients through development of 'shared care protocols', allowing elements of the follow-up to be devolved to a patient's own primary care team where appropriate. This will address inequities of care both within Scotland and between Scottish genetics centres and those in England.
- The updating of existing management guidelines, or development of new guidelines for these conditions, including the use of medications where required. Models of service such as patient held records and disease specific cards could be investigated.
- Act as a point of contact for GPs involved in the care of patients with genetic conditions and have a role in providing education to the wider primary care community.
- Enable the establishment of disease specific 'registers' which would facilitate audit and research into the management of these conditions.
- As well as ensuring the establishment and pursuit of up-to-date protocols, patients and their GPs will have improved access to genetic information and support at need.
- The development of follow-up for patients will involve creation of local and national networks. Locally, the appointee will develop links to other clinical specialties and appropriate support services such as psychiatry, physiotherapy, speech therapy and occupational therapy departments, as well as Huntington's disease advisers. In these conditions, input from such services can be extremely important in improving day to day function, but is often difficult to coordinate effectively for individual patients. They will also develop a network of contacts with local GPs and other agencies within the CHP, providing formal and informal opportunities for education and support of patient care at the local level.
- By developing multi-disciplinary follow-up arrangements, the project would improve the input of the multi-disciplinary team into genetic conditions, allowing team members to develop expertise in the management of disorders such as Huntington's disease and Myotonic Dystrophy.
- If successful and rolled out across Scotland, the model could allow the development of a specific component of the proposed National Managed Clinical Network for Genetics, addressing the provision of optimal management for patients with chronic genetic disorders, with agreed national management guidelines and national standards of care.
It is proposed that this pilot study has a duration of four years, as the appointee in each centre will require time to establish local links, identify resources and set up appropriate multi-disciplinary clinics. This duration would also allow appropriate evaluation and audit of outcomes.
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