Genetic testing: A physician's perspective

Progress in DNA diagnostics has been extremely rapid. We sought to determin e attitudes, awareness, and knowledge of genetic testing by physicians affi liated with the Mount Sinai Medical Center. We surveyed 363 physicians within whose fields genetic testing for various diseases and disorder; exist. Physicians' awareness of and opinions regardi ng testing, attitudes toward counseling, knowledge of the field, and intere st in further education were assessed. Three hundred forty-one (341) physic ians were determined to be eligible for the study and, of these, 89 (26%) r eturned completed surveys. Of the respondents, 71% rated their knowledge of genetics and genetic testi ng as "fair" to "poor"; only 37% read articles concerning genetic testing o n a regular basis. Physician awareness of currently available testing produ ced a bell-shaped distribution. Knowledge regarding Mendelian genetics yiel ded a bimodal distribution, and knowledge reflecting an understanding of th e mechanics behind genetic testing produced a bell-like curve, skewed to th e right. Those who identified themselves as practicing within an ''academic " setting scored significantly higher on the Mendelian genetics and testing mechanics sections than those practicing in a ''private" setting. Ninety-e ight percent (98%) of the physicians said they would refer their patients t o a genetic counselor. Although 91% of the respondents were aware of the ex istence of genetic counseling services, only 71% were aware of the services available at major New York medical centers. Of those aware of counseling services, 53% had referred a patient to them, and 83% of those who referred were "mostly" to "very" satisfied with the counseling. Ninety-five percent (95%) of the physicians believed that the doctor, among others, has the re sponsibility to counsel patients about genetic testing, yet only 51% felt t hat they had the time. No statistically significant preference was found co ncerning the methods for gaining further education or information about gen etic testing. Further education for physicians is required in order for them to accuratel y convey the risks and benefits of genetic testing to their patients. Furth ermore, awareness of the counseling services available within the New York area needs to be heightened in order to provide physicians and patients wit h the specific services they desire. The most efficient and effective metho ds for providing information and for heightening awareness need to be deter mined through additional research.