GENETIC TESTING IN PRIMARY CARE
- 22 September 2004
- journal article
- review article
- Published by Annual Reviews in Annual Review of Genomics and Human Genetics
- Vol. 5 (1) , 1-14
- https://doi.org/10.1146/annurev.genom.5.061903.180029
Abstract
▪ Abstract Rapid advances in genetic research are leading to an expanding array of genetic tests. Primary care providers will increasingly be challenged to identify patients whose symptoms, physical findings, or family history indicate the need for genetic testing, and to determine how to use genetic information most effectively to improve disease prevention. In addressing these challenges, practitioners will need to consider the range of different uses of genetic testing, including diagnosis in symptomatic and asymptomatic people, risk assessment, reproductive decision-making, and population screening. They will need a set of core skills and knowledge to evaluate family history and to recognize clinical findings that indicate genetic risk. At the same time, the primary care perspective will contribute to the evaluation of appropriate uses of genetic testing. A partnership between medical genetics and primary care will help to ensure the development of effective policies, educational tools, and practice guidelines for the coming era of genomic health care.Keywords
This publication has 67 references indexed in Scilit:
- American Society of Clinical Oncology Policy Statement Update: Genetic Testing for Cancer SusceptibilityJournal of Clinical Oncology, 2003
- Average Risks of Breast and Ovarian Cancer Associated with BRCA1 or BRCA2 Mutations Detected in Case Series Unselected for Family History: A Combined Analysis of 22 StudiesAmerican Journal of Human Genetics, 2003
- Role of the geneticist in testing and counseling for inherited thrombophiliaGenetics in Medicine, 2003
- Colorectal cancer screening and surveillance: Clinical guidelines and rationale?Update based on new evidenceGastroenterology, 2003
- On the Use of Familial Aggregation in Population-Based Case Probands for Calculating PenetranceJNCI Journal of the National Cancer Institute, 2002
- Interest in BRCA1/2 Testing in a Primary Care PopulationPreventive Medicine, 2002
- Hereditary haemochromatosis: a realistic approach to prevention of iron overload disease in the populationBest Practice & Research Clinical Haematology, 2002
- Categorizing genetic tests to identify their ethical, legal, and social implicationsAmerican Journal of Medical Genetics, 2001
- Laboratory standards and guidelines for population-based cystic fibrosis carrier screeningGenetics in Medicine, 2001
- Preparing health professionals for the genetic revolutionPublished by American Medical Association (AMA) ,1997