May 9TH, 2019

The shortest bi-weekly genomics research report in the world. Curated by the Emedgene Research Division.

Secondary findings, primary news

What’s the burden of reporting incidental/secondary findings? A study of 700 exome tests found longer pre-test counseling sessions, 55 post-test genetic consultations and to 27 secondary specialized medical evaluations.

ACMG presents new recommendations for reporting secondary findings in clinical exome and genome sequencing, encouraging strong genotype-phenotype correlation.
Genetics in Medicine

Do, or not do

A study identified carriers of a germline CDKN2A variant associated with increased risk of pancreatic cancer and malignant melanoma. 73% of them intended to undergo screening following the disclosure, but only 20% followed through. Nearly 80% communicated with their health care provider about the result.
Genetics in Medicine

The AI Corner

What would it take for clinicians to adopt AI?

487 pathologists surveyed from 50 countries are overwhelmingly in favor of AI, although they believe it will take 5 (38%) 10 (40%) years to integrate into the diagnostic workflow. 93% would be supportive of AI if it would increase time spent on academic or research pursuits.
npj digital medicine

NLP model provides a diagnosis of both known and unknown pediatric diseases, trained with EHRs from approximately 1.4 million patients. The model achieves high diagnostic accuracy.
Nature Medicine

Quiz Break !

What’s wrong with this image?

BackStreet Boys DNA

This and other fun questions on this DNA quiz.

Transgenerational GWAS

Researchers examine the separate and combined effects of maternal and fetal genetics on birth weight and future cardio-metabolic health, trying to understand which factors are causal and which are genetic, and ultimately help more babies achieve healthy birth weights.
Nature Genetics

Who needs twins?

Recovering heritability in a 20k genome study. Finds rare gene variants are responsible for various physical traits and diseases, with an estimated heritability of 79% for height (similar results to twin studies) and 40% for BMI.

Diversity & polygenic

Study finds limited portability of polygenic scores across groups of different genetic ancestries, and even sex or age groups.

Pediatric and neonatal WGS

The case for WGS in infants and children with rare, undiagnosed or genetic diseases.
Journal of Medical Genetics

And, of course, doing it fast matters, and that’s where AI comes in. Interpretation still takes 6 hours in this study, using AI for literature review could speed it up even more.

Significant singles:
  • A2ML1 and otitis media Human Mutation
  • P4HTM and new syndrome, HIDEA Genetics in Medicine
  • ACTL6B & neurodevelopmental deficits and epilepsy AJHG
  • PIK3C2A & syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction PLOS Genetics

Ada Reports

(Ada is our AI engine, she likes to add an interesting new factoid she discovered in every issue)

Mutations in ITCH have been previously implicated in automimmune disease, now researchers show they may also cause acute liver failure.

Questions? Comments? Corrections? Please email us at

Answer: The staircases are spiraling in the wrong direction

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