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The Role of the Primary Care Physician in Managing Genetic Diseases (or do GPs need to know about genetics).

Ian Hopkinson. Clinical and Molecular Genetics Unit, Institute of Child Health; Department of Primary Care and Population Sciences, Royal Free University College London and NoCTeN.

Healthcare in the UK is provided by the National Health Service (NHS). The NHS is a taxation funded service, established in 1948, with the goals of providing universal access to healthcare that is free of charge at the point of delivery. Healthcare within the NHS is provided within a four-tiered structure of primary care (the general practitioner (GP) working from an office within the community), secondary care (local general hospitals), tertiary care (often university associated providing specialized services) and quaternary care (super-specialized national/international centres). Most patients present initially to the GP who has the option of treating the patient themselves, or referring the patient on to the other levels of care as appropriate. It has been proposed that the effective translation of recent advances in genetics and genomics into healthcare is dependent upon the involvement of primary care. This presents a major challenge for primary care to help families with a wide range of genetic conditions and to manage patients’ (and the general publics’) expectations and fears concerning genetics.

Alstrom Syndrome (AS) is a very rare disorder, but in different populations, the management of genetic disease as a whole, e.g. sickle cell disease, thalassemias, inherited cancers, is a significant component of healthcare. There are however specific issues that relate to families that include a member with a rare disorder including patient and family despair when they repeatedly encounter healthcare professionals who are unfamiliar with their condition, and physician discomfort managing patients and families with conditions with which they are unfamiliar. These problems are exacerbated by a lack of obvious practical information resources. Text-books rapidly become dated, many of the genetics databases assume a specialized genetics knowledge, and many commercial or patient-driven web sites are of variable quality.

Many approaches to facilitate the involvement of primary care in genetics have been proposed, e.g i) Improved communication between primary care and specialist services; ii) The development of accessible data resources. iii) The development of genetics specific skills; iv) The use of ‘primary care geneticists’. In order to improve the management of rare disorders such as AS in the community, the development of accessible, practically useful data resources for the non-genetics specialist is likely to be the most effective strategy. We are starting a study to determine which methods of information delivery about rare genetic disorders to primary care physicians are most likely to be effective in improving the management of rare genetic conditions in the community. This involves the development of a comprehensive, database of practically useful information about another rare genetic disorder, Osteogenesis Imperfecta (OI), the brittle bone disease, an example of a moderately rare genetic disorder. Information tools e.g. charts inserts, CD-ROMs, web-sites, will be generated from the OI database and then distributed to primary care physicians to determine which of these tools is most effective for providing information from the physicians and the families perspectives. The information retrieval, storage and tool development systems resulting from this project would be applicable to providing information to primary care physicians caring for patients with AS.

The involvement of primary care in genetic medicine presents substantial challenges to both the primary care and the clinical genetics communities. This has been recognized at national and international level and we are currently working to facilitate this at a more local level in the UK. If we are able to address these difficult challenges successfully, the care of all patients with genetic disorders should improve dramatically, with obvious positive implications for patients with rare, severe, multisystem disorders such as AS.