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Category: genetic testing

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 ,

Genome Sequencing for Healthy Individuals? Think Big and Act Small!

a crowd of people with a magnifying glass on a few and DNA

In a 2013 blog post, we asked the question: “When should we all have our genomes sequenced?” At that time, we concluded that the time is not right and that “if we want to use whole genome sequencing in the course of regular preventive care and health promotion, research should be conducted to evaluate its Read More >

Posted on by Muin J. Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention, and Greg Feero, guest blogger, Maine Dartmouth Family Medicine ResidencyLeave a commentTags ,

Direct to Consumer Genetic Testing: Think Before You Spit, 2017 Edition!

test tubes and DNA

As people have become more proactive in managing their health, personal genomic direct to consumer (DTC) testing has become more popular over the past decade. These tests allow consumers to access information about genetic predispositions and response to chemicals and medications without the involvement of healthcare providers.  With the expanding landscape of such testing, the Read More >

Posted on by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention5 CommentsTags ,

The Appropriateness and Cost of Thrombophilia Panel Testing: It’s Complicated

blood clot

Deep vein thrombosis (DVT) and pulmonary embolism (PE) are two manifestations of venous thromboembolism (VTE), an underdiagnosed, serious, and sometimes-preventable medical condition that occurs when a blood clot forms in a deep vein (DVT) and subsequently breaks up and travels to the lungs (PE). DVT/PE is a serious public health problem [PDF 1.15 MB] affecting Read More >

Posted on by Scott Bowen, MPH, Office of Public Health Genomics, Division of Public Health Information Dissemination, Center for Surveillance, Epidemiology and Laboratory Services and Scott D. Grosse, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GeorgiaLeave a commentTags ,

Newborn screening for severe combined immune deficiency (SCID) saves lives and money: a cost-effective public health policy

Couple with their child

Severe combined immune deficiency (SCID), also known as “bubble boy disease,” is a rare inherited disorder of the immune system that leads to recurrent severe infections. In the absence of effective treatment, SCID is usually fatal within the first 2 years of life. Treatment by hematopoietic cell transplantation can minimize the devastating effects of SCID, Read More >

Posted on by Scott D. Grosse, Health Economist, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and PreventionLeave a commentTags , ,

Direct-to-Consumer Genetic Testing and Public Health Education

a woman looking at her spit in a test tube, sequencing wrapped around a hand, a person looking at double helix on a monitor, a person discussion her genetic test results with a counslor and a crowd of people

We have previously blogged about the value (or lack thereof) of direct-to-consumer (DTC) genetic tests in improving health. In a 2011 blog entitled “think before you spit” we cautioned that there was very little evidence that the use of such tests improves health and prevents disease for healthy people in the population. The blog was Read More >

Posted on by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and PreventionLeave a commentTags , , ,

Celebrating a Decade of Evidence-Based Evaluation of Genomic Tests

CDC’s Office of Public Health Genomics (OPHG) launched the Evaluation of Genomic Applications in Practice and Prevention Initiative (EGAPP) in 2004. The independent EGAPP Working Group (EWG) celebrated a decade of achievements and accomplishments at their meeting in Atlanta on October 27-28, 2014. The EWG is comprised entirely of volunteers, encompassing multiples areas of expertise Read More >

Posted on by W. David Dotson and Muin J Khoury, Office of Public Health Genomics, Centers for Disease Control and PreventionLeave a commentTags , , ,

Epigenetics and Public Health: Why We Should Pay Attention

In September 2014, one of us (MJK) spoke on the topic of epigenetics at the Annual Meeting of the Association for State and Territorial Health Officials (ASTHO). ASTHO is a national organization representing public health agencies in the United States. ASTHO members formulate and influence public health policy and practice. In the midst of a Read More >

Posted on by Muin J. Khoury, Office of Public Health Genomics and Krista Crider, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and PreventionLeave a commentTags , , , ,

When Should We All Have Our Genomes Sequenced?

a crowd of people with DNA in the foreground

Recently, George Church, a prominent genomics researcher and leader of the Personal Genome Project asked why so few people are opting to inspect their genome. The cost and accuracy of genome sequencing have certainly improved dramatically. He clearly sees the health benefits of whole genome sequencing. He states “we should avoid being judgmental of people Read More >

Posted on by Muin J Khoury, Director, Office of Public Health Genomics, Centers for Disease Control and Prevention2 CommentsTags , , ,

A Public Health Genomic State-by-State Clickable Map: Accelerating Implementation of Genomics Applications to Improve Population Health

US Map

In recent years, public health programs in several states have used innovative approaches to implement evidence-based genomic testing recommendations in an effort to improve health outcomes for people at increased hereditary risk for breast, ovarian, colorectal and other cancers.  For example, the Michigan Department of Community Health [PDF 1.04 MB] has partnered with payers in Read More >

Posted on by Karen Greendale, MA, CGC, McKing Consulting, Contractor for the Office of Public Health Genomics, Centers for Disease Control and Prevention1 CommentTags , , , , , , ,
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