Predictive genetic tests: problems and pitfalls.
The role that genetic factors play in medicine has expanded, owing to such recent advances as those made by the Human Genome Project and the work that has spun off from it. The project is focusing particularly on localization and characterization of recognized human genetic disorders, which in turn increases awareness of the potential for improved treatment of these disorders. Technical advances in genetic testing in the absence of effective treatment has presented the health profession with major ethical challenges. The example of the identification of the BRCA1 and BRCA2 genes in families at high risk for breast and ovarian cancer is presented to illustrate the issues of the sensitivity of the method, the degree of susceptibility a positive result implies, the need for and availability of counseling and patient education, and confidentiality of the test results. A compelling need exists for adequate education about medical genetics to raise the "literacy" rate among health professionals.
Davis
J G
JG
Division of Human Genetics, New York Hospital-Cornell Medical Center, New York 10021, USA.
D024682:BRCA2 Protein; D001943:Breast Neoplasms / Q000235:genetics; D003219:Confidentiality; D004992:Ethics, Medical; D005260:Female; D005544:Forecasting; D019398:Genes, BRCA1 / Q000235:genetics; D005817:Genetic Counseling; D030342:Genetic Diseases, Inborn / Q000235:genetics / Q000628:therapy; D005819:Genetic Markers / Q000235:genetics; D005821:Genetic Techniques; D005820:Genetic Testing; D015316:Genetic Therapy; D005826:Genetics, Medical / Q000193:education; D016045:Human Genome Project; D006801:Humans; D009363:Neoplasm Proteins / Q000235:genetics; D010051:Ovarian Neoplasms / Q000235:genetics; D010353:Patient Education as Topic; D014157:Transcription Factors / Q000235:genetics
D024682:BRCA2 Protein; D005819:Genetic Markers; D009363:Neoplasm Proteins; D014157:Transcription Factors