TY - CHAP M1 - Book, Section TI - Genomics and Evidence-Based Medicine A1 - Feero, W. Gregory A2 - Murray, Michael F. A2 - Babyatsky, Mark W. A2 - Giovanni, Monica A. A2 - Alkuraya, Fowzan S. A2 - Stewart, Douglas R. PY - 2014 T2 - Clinical Genomics: Practical Applications in Adult Patient Care AB - The intersection between genomics and personalized medicine is in an early stage. Challenges to applying the principles of evidence-based medicine (EBM) to the assessment of genomics include the rapid pace of technology advancement, the rarity of most monogenic conditions, and the complexity of human genetic variation underlying common conditions.Analytic validity, clinical validity, and clinical utility are important concepts related to the performance of molecular diagnostic testing. Analytic validity describes the ability of a test to reliably detect the presence of a given genomic variation or biomarker, whereas clinical validity describes the relationship of the variant or maker with a trait or disease. Clinical utility is a term describing the ability of a genomic technology to improve health outcomes.The United States Preventive Services Task Force (USPSTF) and Evaluation of Genomic Applications in Practice and Prevention (EGAPP) are developers of rigorous evidence-based guidelines for genomic tests and interventions. Insurer technology assessment groups, professional societies, and disease advocacy organizations are also valuable sources of evidence-based recommendations; however, the rigor of the methodology employed in guideline development and the evidence base supporting these recommendations can be variable. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accessmedicine.mhmedical.com/content.aspx?aid=1102707431 ER -