- Benjamin A Raby, MD, MPH
Benjamin A Raby, MD, MPH
- Section Editor — Genetics
- Associate Professor of Medicine
- Harvard Medical School
- Wendy Kohlmann, MS, CGC
Wendy Kohlmann, MS, CGC
- Licensed Genetic Counselor
- University of Utah Huntsman Cancer Institute
- Vickie Venne, MS, CGC
Vickie Venne, MS, CGC
- Licensed Genetic Counselor
- Veterans Hospital Administration
Genetic testing is becoming more important in allowing tailored interventions in "personalized" or "precision" medicine. Genetic conditions are responsible for over 35 percent of pediatric medical conditions. In adults, disease risk for common conditions is more likely to be related to a combination of multifactorial genetic and non-genetic factors.
Targeting genetic testing appropriately and understanding the limitations and challenges of available testing approaches are crucial to the successful use of genetics in improving health and quality of life. As primary care clinicians are more frequently asked about genetic testing, they can collaborate with colleagues to assure that genetic advances are applied usefully to patient care.
This topic reviews principles of genetic testing and provides general information about the use of genetic testing to evaluate patients for inherited conditions.
Additional discussions are provided on the following topics:
●Genetic counseling – (See "Genetic counseling: Family history interpretation and risk assessment".)
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- PRINCIPLES OF GENETIC TESTING
- Types of genetic testing
- Appropriate use of genetic testing
- Settings for genetic testing
- Assessing the validity of a genetic test
- Coordinating testing with counseling
- ETHICAL, LEGAL, AND PSYCHOSOCIAL ISSUES
- Psychosocial consequences of testing
- Disclosure to family members
- Testing children
- Genetic discrimination
- PRACTICAL ISSUES
- Whom to test
- Informed consent for testing
- Samples for testing
- Insurance reimbursement
- Where to test/Resources for testing
- Outcomes of testing
- MANAGEMENT AND FOLLOW-UP
- SUMMARY AND RECOMMENDATIONS