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Integrating Genomics into Healthcare: A Global Responsibility

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TLDR
This work reviews the diversity of approaches and current progress made by national genomic-medicine initiatives in the UK, France, Australia, and US and provides a roadmap for sharing strategies, standards, and data internationally to accelerate implementation.
Abstract
Genomic sequencing is rapidly transitioning into clinical practice, and implementation into healthcare systems has been supported by substantial government investment, totaling over US$4 billion, in at least 14 countries. These national genomic-medicine initiatives are driving transformative change under real-life conditions while simultaneously addressing barriers to implementation and gathering evidence for wider adoption. We review the diversity of approaches and current progress made by national genomic-medicine initiatives in the UK, France, Australia, and US and provide a roadmap for sharing strategies, standards, and data internationally to accelerate implementation.

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The Answer Is 17 Years, What Is the Question

TL;DR: The study concludes that understanding lags first requires agreeing models, definitions and measures, which can be applied in practice, and a second task would be to develop a process by which to gather these data.
Journal ArticleDOI

A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.

TL;DR: In conclusion, rapid genomic sequencing can be performed as a first-tier diagnostic test in inpatient infants and urWGS had the shortest time to result, which was important in unstable infants, and those in whom a genetic diagnosis was likely to impact immediate management.
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Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

TL;DR: A platform for population-scale, provisional diagnosis of genetic diseases with automated phenotyping and interpretation and could aid clinicians to expedite an accurate genetic disease diagnosis, potentially hastening lifesaving changes to patient care.
Journal ArticleDOI

Personalized Medicine and the Power of Electronic Health Records.

Noura S. Abul-Husn, +1 more
- 21 Mar 2019 - 
TL;DR: Advances in the digitization of health information and the proliferation of genomic research in health systems are reviewed and insights are provided into emerging paths for the widespread implementation of personalized medicine.
References
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Journal ArticleDOI

ClinVar: public archive of interpretations of clinically relevant variants.

TL;DR: ClinVar at the National Center for Biotechnology Information (NCBI) is a freely available archive for interpretations of clinical significance of variants for reported conditions, which includes germline and somatic variants of any size, type or genomic location.
Journal ArticleDOI

The answer is 17 years, what is the question: understanding time lags in translational research:

TL;DR: This paper reviewed the literature describing and quantifying time lags in the health research translation process and concluded that the current state of knowledge of time lag is of limited use to those responsible for R&D and knowledge transfer who face difficulties in knowing what they should or can do to reduce time lag.

The Answer Is 17 Years, What Is the Question

TL;DR: The study concludes that understanding lags first requires agreeing models, definitions and measures, which can be applied in practice, and a second task would be to develop a process by which to gather these data.
Journal ArticleDOI

Charting a course for genomic medicine from base pairs to bedside

TL;DR: A vision for the future of genomics research is articulated and the path towards an era of genomic medicine is described, as advances in genomics are harnessed to obtain robust foundational knowledge about the structure and function of the human genome.
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