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A New Public Health Assessment of the Disease Burden of Hereditary Hemochromatosis: How Clinically Actionable is C282Y Homozygosity?

blood cells

This blog post is based on a recent paper by Grosse, Gurrin, Bertalli, and Allen in Genetics in Medicine. Hereditary hemochromatosis (HH) attributable to mutations in the HFE gene is the most common autosomal recessive disorder among adults of northern European origin. It occurs in 1 in 300 non-Hispanic whites in the United States. Approximately Read More >

Posted on by Scott D. Grosse, Guest blogger, National Center on Birth Defects and Developmental Disabilities and Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention1 CommentTags , ,

Accelerating Evidence Generation to Fulfill the Promise of Genomic Medicine

a long road with a lighting speed trail, a computer monitor with electronic health record displayed and DNA in the sky

This blog post is a summary of a recently published paper in Genetics in Medicine. Genomic tests should demonstrate analytical and clinical validity and clinical utility prior to wider adoption in clinical practice. However, clinical utility remains elusive for many such tests. A recent collaborative review of systematic reviews that compared the analytic and clinical Read More >

Posted on by Christine Y Lu, guest blogger, Harvard Medical School, Boston, Mass and Muin J. Khoury, Office of Public Health Genomics, Centers for Disease Control and Prevention.Leave a commentTags ,
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