The amount of emerging genomic information related to healthcare and public health is staggering. PHGKB is a one-stop shop for information relevant to genomics translation and population health impact for almost all diseases across the life span. MyPHGKB allows end users to customize their own PHGKB databases and type of information. The Public Health Genomics Read More >Posted on by
Happy Thanksgiving 2017: Take time to collect, share, and act on your family health history, it may save your life!
Regular readers of this blog may have noticed that we have an almost identical message around each Thanksgiving Day. Collect, share, and act on your family health history! It seems every year we emphasize a slightly different version of this message. In 2016, we highlighted the emergence of new tools that can help consumers and Read More >Posted on by
Genomics and Precision Medicine: How Can Emerging Technologies Address Population Health Disparities? Join the Conversation.
Advances in genome sequencing, other “omic” technologies, and big data promise a new era of personalized medicine. However, there is an ongoing discussion how these new technologies can be used to understand and address existing population health disparities. On October 11, 2017, the Precision Medicine and Population Health Interest Group in the Division of Cancer Read More >Posted on by
Testing for genetic variants related to warfarin metabolism has been the poster child for pharmacogenomics in clinical practice for over a decade. A recent publication of the Genetic Informatics Trial (GIFT) provides additional evidence for the clinical benefits of incorporating pharmacogenomics testing into the management of warfarin initiation. In this multicenter study of older individuals Read More >Posted on by
Trends and Factors Affecting Utilization of BRCA Testing in the United States: The Need for Improved Surveillance
This blog post is a summary of two recent CDC papers on the trends in utilization of BRCA testing in the United States, and metropolitan-nonmetropolitan areas differences in testing. Women with pathogenic BRCA mutations have an estimated 45–65% risk of breast cancer and a 17–39% risk of ovarian cancer by age 70, as compared with Read More >Posted on by
Population-based cancer surveillance provides a quantitative measurement of cancer occurrence in the United States and globally. Core activities of surveillance include measuring cancer incidence and characterizing each cancer with regard to histopathology, stage, and treatment in the context of survival. Cancer surveillance has been crucial in informing policy and practice, as well as clinical and Read More >Posted on by
A New Public Health Assessment of the Disease Burden of Hereditary Hemochromatosis: How Clinically Actionable is C282Y Homozygosity?
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
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
Cascade Screening for Familial Hypercholesterolemia in the United States: Public Health Impact and Challenges
This post is a summary of our recently published paper in JAMA and outlines the public health impact and challenges for cascade screening for Familial Hypercholesterolemia (FH) in the United States. What is the public health impact of cascade screening for FH? FH is a dominantly-inherited genetic disorder affecting about 1 in 250 people and Read More >Posted on by
A recently published article by M. Verbelen and colleagues in The Pharmacogenomics Journal is called, “Cost-effectiveness of pharmacogenetic-guided treatment: are we there yet?” As Betteridge’s law of headlines states, any headline that ends in a question mark can be answered by the word No. Regrettably, although that article presents useful information, it ends up by Read More >Posted on by
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