Suchergebnisse

Some epidemiologists and geneticists claim that integrating genetics into public health policies and programs is necessary and unavoidable. <i>Objective:</i> To examine the extent to which further integration of public health and genetics is warranted. <i>Methods:</i> Synthesis of the literature in four areas: research, genetic services, regulation, and education. The analysis is limited to human genetics. <i>Results:</i> Public support for basic genetic research has and will continue to lead to new applications and to further understanding of human origins and dispersions. Some applied research, particularly for genetic risk factors for common complex diseases, has low yield and is better supported by private funds. The only genetic service for which a public health role is paramount is newborn screening. With the patenting of genes, and the proliferation of commercial interests in genetic tests and directly advertising them to the public, regulation by public health agencies is increasingly important. As most genetic testing and other services will be provided in the personal health care system, education about genetics is best left to the educational and medical systems. Public health practitioners should be aware of the limitations of genetic tests. <i>Conclusions:</i> There is little need for further integration of genetic services and education into public health especially in countries in which public and private health services are dichotomized. Newborn screening and follow-up, however, are most safely and effectively provided under public health auspices. The most important area for strengthening the public health role is in the regulation of genetic tests and other genetic services provided primarily by the private sector. Continued support for basic genetic research is needed.

The European Group on Ethics and New Technologies, which advises the European Commission, has published an opinion paper on ethical aspects of genetic testing in the workplace. The paper goes well beyond the usual ethical issues, presenting a summary of genetic testing in the workplace in the United States and Europe and criteria for appropriate testing. Unlike many other documents on ethics, it pays close attention to the problem of false-positive and false-negative test results. Although no genetic tests are currently appropriate for screening workers or applicants for jobs in which occupational hazards exist, inappropriate testing has occurred and regulations are needed to ensure that only appropriate testing is used in the future. Workers or their representatives should be involved in deciding when and how genetic testing in the workplace is done.

The second report of the UK's Advisory Committee on Genetic Testing deals primarily with predictive testing for late-onset Mendelian dominant disorders. This focus leads to some ambiguity as to whether the policies promulgated by the Committee are intended to apply also to genetic susceptibility testing for multifactorial disorders, which is discussed in an Annex. The policies cover a wide range of topics including some that have received little attention elsewhere.

In the guidance to its 'Code of Practice on Human Genetic Testing Services Supplied Direct to the Public', the United Kingdom's Advisory Committee on Genetic Testing allows the public to obtain carrier testing for inherited recessive disorders direct from suppliers, including commercial laboratories. For other types of genetic testing, involvement of a medical practitioner is needed. Thus the Committee creates two spheres of genetic testing, the first for which it maintains that there are 'no significant direct health implications for the customer' and the second for which there are. This is an unwarranted distinction. By permitting people who can afford to pay for the test the opportunity to obtain it direct from the supplier, the Code contributes to two tiers of access to carrier testing. The first tier is available to those who can afford the supplier's price. Everyone else falls into the second tier, being able to obtain the test only through the National Health Service (NHS). At present, the NHS covers carrier testing for relatives of patients with cystic fibrosis, not for the general public. In this situation, a two-tier system could widen disparities in health between rich and poor.

<b>Objective:</b> To assess practicing and future physicians' preparedness to obtain informed consent for cancer susceptibility testing. <b>Methods:</b> Questionnaires were mailed to 601 Maryland physicians and 513 first- and fourth-year medical students. <b>Results:</b> Two thirds of students, but only 56% of physicians considered it very important to obtain informed consent for BRCA1 testing (p < 0.05). Forty-six percent of fourth-year students, but only 26% of first-year students and 30% of physicians could calculate the positive predictive value of a BRCA1 test (p < 0.001). A minority of respondents would offer testing for inappropriate indications. <b>Conclusion:</b> Failure to consider informed consent important, to understand the uncertainty of predictive test results, and to recognize when testing is inappropriate are barriers to informed consent. Although current medical training may be reducing some barriers, increased attention to these topics in medical school curricula is suggested.

<i>Objectives:</i> To examine (1) the quality of media reports (newspapers, television and public radio) of genetic discoveries with medical relevance and (2) factors related to the completeness and balance of the stories. <i>Methods:</i> Analysis of the accuracy, balance, and completeness of 228 media stories reporting 24 genetic discoveries between 1996 and 2000 using a previously validated instrument. <i>Results:</i> Although usually accurate, the stories contained only 45.5 ± 13.8% (mean ± SD) of relevant items. Stories appearing on television and stories reporting discoveries of genes for rare diseases were the least complete. Stories in non-US English-speaking newspapers included more content items per word than US stories. Less balanced stories exaggerated the benefits of discoveries, ignored possible risks, and did not present a range of expert opinion. Scientists were sometimes the source of exaggeration. <i>Conclusions:</i> To increase the quality of media reports about genetic discoveries, stories should include more relevant items and be written by journalists skilled in science writing. Scientists will have to resist the tendency to exaggerate. These conclusions may apply to media stories of other discoveries as well.