Genomics and Precision Health Posts
Public Health Impact of Digital Health: Reinventing the Wheel
“Digital health has potential to improve health management, but the current state of technology development and deployment requires a “buyer beware” cautionary note.” (Perakslis and Ginsburg, JAMA, 2020) In a recent JAMA viewpoint, Perakslis and Ginsburg summarize the current state of digital health and discuss approaches in evaluating benefits, risks and value of these technologies. Read More >
Posted on byLabs 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 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 by2020: A Challenging Year of Progress for Genomics and Precision Public Health
It is time to wrap up an eventful 2020 which unfortunately was dominated by the COVID-19 pandemic. From January 2020 through November 2020, we saw a major increase in visits to our website (> 2.6 million views, compared to 2 million views in 2019 and 1.2 million views in 2018). In our year end blog, Read More >
Posted on byGenomic Medicine Year in Review 2020: Population-wide Implementation Research Has Arrived
Advances in genomic medicine continue at a steady pace. In a December 2019 paper, The Genomic Medicine Working Group of the National Advisory Council for Human Genome Research of the National Human Genome Research Institute (NHGRI) identified 10 papers with the most significant advances in the field. In our 2019 end of the year blog. we featured 5 Read More >
Posted on by15 Years of Genome-wide Association Studies: What’s the Public Health Impact?
Genome-wide association studies (GWAS) test thousands or millions of genetic variants scattered throughout the human genome for association with human traits or diseases. GWAS burst onto the scientific scene in 2005 and have been enabled by technological advances and falling prices. A recent commentary in Nature Communications summarized the state of the science: To date, Read More >
Posted on byHappy Thanksgiving 2020: Family and Family Health History Are As Important As Ever
This Thanksgiving might not look the same as the ones before it, but some things haven’t changed. Even if you can’t see your loved ones in person, Thanksgiving is still a great time to talk to your family members about your family health history. Having one or more family members with a disease can mean Read More >
Posted on byAssessing the Value for Money of Using Genome Sequencing in Child Health
If you have a child with a neurodevelopmental condition, such as autism, epilepsy, or unexplained developmental delay, finding a genetic cause for his/her condition can bring peace of mind and avoid what seems like an endless cycle of medical evaluations and tests. The application of next generation sequencing (NGS) methods, including sequencing the protein-coding region Read More >
Posted on byA New Vision for Using Genomics to Improve Health: An Expanded Role for Public Health
The National Human Genome Research Institute (NHGRI) recently published a new strategic vision 2020 to identify research priorities and opportunities in human genomics for improving health. The framework includes four main areas: guiding principles and values, a robust foundation for genomics, breaking down barriers that impede progress, and compelling research projects. Since the completion of Read More >
Posted on by 1 CommentGenomic Medicine is Here: We Need More Data on Implementation and Outcomes
The use of genomic tests in clinical research and practice continues to accelerate in the United States and around the world. For almost a decade, the Genetic Testing Registry (GTR) at the National Institutes of Health has continued to track the growth and development of genomic tests. As of October 28, the GTR lists 76,835 Read More >
Posted on by 1 CommentPrecision Medicine in Action: How can we make cascade screening for hereditary conditions work best in the real world?
If someone in your family were diagnosed with a genetic condition, would you want to be tested for that condition as well? For some disorders, like Huntington’s disease, for which there are no means available for prevention or cure, the question can be extremely difficult to answer. However, with many other conditions (for example familial Read More >
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