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Direct-to-Consumer Genetic Testing and Public Health Education
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...
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Newborn screening for severe combined immune deficiency (SCID) saves lives...
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...
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The Appropriateness and Cost of Thrombophilia Panel Testing: It’s Complicated
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...
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Direct to Consumer Genetic Testing: Think Before You Spit, 2017 Edition!
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...
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Genome Sequencing for Healthy Individuals? Think Big and Act Small!
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...
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Accelerating Evidence Generation to Fulfill the Promise of Genomic Medicine
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...
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What do women (and men) want? Parents weigh in on genetic testing for rare...
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...
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Labs on FHIR: Sharing Genetic Test Results*
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...
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Equitable Implementation of Cascade Testing for Genetic Disorders: Where are We?
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...
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Cost-effectiveness of Pharmacogenomic Testing: How to Measure the Value of...
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...
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