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Fam Pract. 2003 Oct;20(5):601-6.

Community genetics and community medicine.

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University of Maastricht, The Netherlands.


In the decades to come, molecular genetic insights and techniques will have great influence on prevention and health care. Health care providers should anticipate important new developments rather than just wait and see. For community doctors, who can impossibly oversee all relevant developments in sufficient detail, close communication with the community and clinical genetic specialists is necessary to keep pace with progress. With regard to genetic counselling and reproductive medicine, working agreements between primary care and specialist centres are important. General communication about hereditary issues can be dealt with by well informed GPs, with appropriate computerized decision support, but in order to address specific risks and disorders consultation at a clinical genetic centre is preferred. In clinical medicine, much work is being done on DNA-based 'dia-prognosis' and more targeted interventions. Estimations of when such innovations will really have an impact range from 2005 to beyond 2020, and there are still many uncertainties, especially regarding common multifactorial disorders. Community-based genetic epidemiology has become a basic science in understanding the human genome. Clinical epidemiological methodology can contribute a lot to the quality of molecular clinico-genetic studies. Long-term follow-up to evaluate predictions and interventions needs more attention, and can easily be integrated into primary care medicine. In view of the ambition to develop more tailormade interventions, research methodology will be challenged regarding n = 1 studies. With respect to counselling and clinical practice, many ethical issues, relevant for community medicine, have to be considered in the domains of both reproductive medicine and clinical practice. Doctors, patients and society, traditionally battling to reduce diagnostic and prognostic uncertainties, must now learn to cope with approaching certainties. As for all new technologies, cost-effectiveness is an important topic for genetics. Increased cost-effectiveness because of better targeted interventions may be counterbalanced by the price of the new technologies and an expanding indicated population. In view of current developments, community practitioners must integrate community genetics into their daily routine, and critically anticipate possibly relevant innovations. More efforts in genetic risk assessment and communication are necessary in undergraduate and postgraduate training. A multidisciplinary approach is needed, in collaboration with primary care-oriented genetic specialists. Efforts to educate the public and (potential) patients should start at an early age, and must focus on what (future) health care users need for a balanced appraisal of genetic information and for optimal decision making in health promotion and health care.

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