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Work in Progress: Classifying Evidence-based Genomic Applications for Practice and Prevention

applications by evidence tiers with 68 tier 1, 107 tier 2 and 7 tier 3

In our 2015 paper,“Prioritizing genomic applications for action by level of evidence: A horizon-scanning method,” we proposed a systematic scanning method that assigns genomic applications to “tiers” defined by availability of synthesized evidence. Because of the amassed evidence on the validity and utility of genomic tests and related technologies, we suggested that researchers, policy makers, Read More >

February 28, 2018 by W. David Dotson and Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, Georgia

evidence-based medicine, genomics

applications, disease prevention, practice

What do women (and men) want? Parents weigh in on genetic testing for rare diseases in children

a block depicting a mother, a father and child holding hand with DNA

Genetic testing in children has traditionally focused on conditions with clinical actionability or utility. However, parents may want to know whether their child is at high risk of a rare disease even if a treatment doesn’t exist. A newly published article reports on a study conducted by researchers at RTI International and the University of Read More >

February 27, 2018 by Scott D. Grosse, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia

genomics

genetic testing, rare disease