Welcome to Breaking Genes, the high impact factor edition. Although we were going to take a summer publishing hiatus in August, genetics showed up in force in the big medical journals. So here’s a short email highlighting genomics topics covered by the wider medical community.

The Lancet

The Lancet issued an entire genomics series in August, all of it worth a read.

How do we transition genomics from research to clinical care? An introduction to the wide world of genomics. Of particular interest to those of us in the field is panel 2, challenges to implementation of genomic medicine. Among them are ‘Potentially overwhelming and rapidly evolving nature of genomic information’, ‘Need for extensive informatics and infrastructure to integrate genomic results into electronic medical records and provide clinical decision support’, lack of diversity and more.
Opportunities, resources, and techniques for implementing genomics in clinical care

A thorough pharmacogenomics review, covering pharmacokinetic and pharmacodynamic mechanisms, as well as the complexities of variant interpretation.
Pharmacogenomics

How can we improve the diagnosis of rare diseases? Includes data on the variability of diagnostic rate by phenotype categories, as well as the expected contribution from the integration of animal models, metabolomics, re-phenotyping and RNA analysis. (Timely for us at Emedgene, since we added an animal model to our knowledge graph this week).
Genomic medicine for undiagnosed diseases

The odds ratio for risk of developing a disease with a positive Family Health History is frequently greater than 2, which is why we should collect and use FHH data.
Family health history: underused for actionable risk assessment

A review of clinical outcome studies in genomic medicine and important features and key challenges to building evidence for NGS in the context of routine patient care.
Building evidence and measuring clinical outcomes for genomic medicine

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Nature Medicine

How can we ensure that Americans sharing their genetic data aren’t penalized with regards to life, disability, and long-term insurance coverage?
Genetic testing, insurance discrimination and medical research: what the United States can learn from peer countries

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NEJM

The All of Us research update and roadmap. As of July 2019, over 175,000 participants contributed biospecimens. Encouragingly, more than 80% of these participants are from groups that have been historically underrepresented in biomedical research.
The “All of Us” Research Program

Not genomics, but still a topic we’re all interested in, NEJM publishes a gene therapy review.
Hype aside, over the past 3 years six gene-therapy products have been approved for clinical use.
Gene Therapy

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Nature

Not genomics, but AI in medicine, which we also cover quite regularly here. Researchers developed a model to predict kidney disease 1-2 days in advance, using a deep learning approach for continuous risk prediction from EMR data. 90% of patients who went on to dialysis were identified by the model.
A clinically applicable approach to continuous prediction of future acute kidney injury

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JAMA

Screening for pancreatic cancer in asymptomatic, average-risk individuals should be avoided. However, high-risk individuals carrying germline mutations for pancreatic cancer can benefit from screening.
Screening for Pancreatic Cancer

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Nature Reviews Genetics

Back to the world of genetics for one last publication
A comprehensive – and open-access – review covering all major RNA seq methods, including short- read, long- read and direct- seq & providing insights for future advancements
RNA sequencing: the teenage years

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