Category: genetic testing

Cost-effectiveness of Pharmacogenomic Testing: How to Measure the Value of Having the Right Dose of the Right Drug for the Right Patient

a stethoscope with money, pills with DNA inside them, a crowd and a few people in the inner circle being target, and a doctor talking to a patient in a hospital bed

A recent systematic review that assessed the cost-effectiveness of pharmacogenetic testing for drugs with existing guidelines concluded that most studies favored pharmacogenomic testing. The significance of this conclusion must be interpreted with caution and in the context of study factors, such as funding sources, geography, cohort, and the cost-effectiveness comparisons being made. Pharmacogenomics (PGx) combines Read More >

Posted on by Lu Shi, Zhuo Chen, W. David Dotson, Katherine Kolor, Scott Grosse, Muin J. Khoury {Office of Genomics and Precision Public Health, National Canter on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia}
Categories genomics, pharmacogenomics
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Equitable Implementation of Cascade Testing for Genetic Disorders: Where are We?

a cascade testing pedigree with a scale and a figure with a magnifying glass looking at a question mark

Testing relatives of individuals with genetic disorders, a process known as cascade testing or cascade screening, is critical for identifying those needing health services that can prevent morbidity and mortality. Yet, cascade testing is poorly implemented in clinical practice. For example, there are several genetic conditions with CDC tier 1 evidence-based recommendations for cascade testing, Read More >

Posted on by Mindy Clyne, W. David Dotson, Muin J. Khoury, Office of Genomics and Precision Public Health, Centers for Disease Control and Prevention, Atlanta, Georgia
Categories genomics
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Labs on FHIR: Sharing Genetic Test Results*

Phase 1 through Phase 4 with an image of double helices for Phase 1, a person looking at DNA, a maginfying glass, a microscope and a brain, for Phase 3 a lab worker is shown using a text tube and a pipette, and for Phase 4 a doctor is discussing genetic results with a person

The use of genetic testing is becoming increasingly routine in patient care. For example, tests are available to check newborns for genetic disorders, screen would-be parents for carrier status, inform cancer care, and evaluate potential pharmacogenetic associations. However, the laboratories that perform these tests face many challenges that keep them from being able to return Read More >

Posted on by Allison Dennis; Kevin Chaney; Tracy Okubo and Teresa Zayas Cabán, Office of the National Coordinator for Health Information Technology, Department of Health and Human Services
Categories genomics
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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 >

Posted on by Scott D. Grosse, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia
Categories genomics
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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.
Categories genomics
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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 Residency
Categories genomics, precision medicine, whole genome sequence
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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 Prevention14 Comments
Categories genomics, personal genomics
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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, Georgia
Categories genomics
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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 Prevention
Categories newborn screening, Severe Combine Immune Deficiency
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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 Prevention
Categories genomics, personal medicine
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