Nice accomplishment for a former lab member -- in recognition of work done as part of the ClinGen consortium!

So proud to have Sarah as part of the Berg lab, and looking forward to many more great things in the future! #ACMGMtg2019 UNC School of Medicine

My problem with risk prediction is that it will always be right, whether you develop disease or not. They key to clinical utility is whether differential management based on PRS/risk factors will improve outcomes and cost. This is where more research is needed, not ROC curves.

What a poignant story and a visceral reminder of how important communication is! A must-read for medical and genetic counseling trainees. And perhaps just for anyone who cares for patients in the most vulnerable times of their lives...

If you rearrange fig S3D, the top decile of PRS contains ~ 32% of the severely obese, 17% of the obese, and 9% of the overweight... the middle 8 deciles contain ~ 68%, 79%, and 82% of those populations, respectively. Does PRS really predict?

The problem with focusing intervention on the top decile of PRS is that it would ignore the majority of kids who will be overweight, obese, or severely obese, but who have a "normal" PRS (~82%, 79% and 68%, respectively)...

Haven't read the book, but quotes from the review ("geneticist Robert Plomin ...presents DNA as a “fortune-teller” that is “100 percent reliable” and that can “predict your future from birth”) make me cringe. Hard to fathom anyone making claims that mutilate our science this way.

The distinction is between what genes were deemed by the ACMG Secondary Findings working group to be important enough to look for when someone undergoes clinical genomic sequencing for diagnostic purposes, versus those that should be actively sought in the general population.

Cautiously optimistic about therapeutic intervention in Huntington disease. Exciting to see reduction in mutant HTT in CSF after intrathecal antisense oligo, but looking forward to Phase 2/3 trials studying outcomes & prevention of manifestations.

Who knew people could mis-use genetic tests? 🙄 Any guesses as to what "genetic condition" this guy was diagnosing based on 23andMe in order to gain exemptions? MTHFR, anyone? thevaccinereaction.org/2017/05/mthfr-… #psuedoscience #pseudomedicine

Use of genomic screening in newborns and children requires careful thought about what information to include. NC NEXUS used "age-based actionability" to help categorize conditions for parental decision-making. authors.elsevier.com/a/1Z5eG_WXIBsL… @NICHD_NIH @UNCResearch

You can be the 1000th member of ClinGen! Volunteer now: clinicalgenome.org/start/ #CCG19

Where are they now? UNCmdphd program circa 1994. Spot anyone you know? Daniel Wessell UNC School of Medicine

I thought the actual responses (aside from the yes/no) were quite nuanced. The answer is clearly "it depends"...

“My medical training was always tied to genetics. I grew up with genetics, you could say.” bit.ly/32KUA0J

“Bayes theorem applies to everything clinicians do:” Les Biesecker writes in Genome Medicine about the simple but fundamental difference between genomic screening and genomic diagnostic testing. genomemedicine.biomedcentral.com/articles/10.11…

WOW. Just wow. Is BCM Genetics the pinnacle of science nerd skit/video parody? Brings back memories. Way to go lorrie and all others involved...

This is a really lovely thread, thanks Tanentzapf Lab Thread Reader App unroll please

I’ve never felt so much respect for someone in a floral fanny pack Great The News & Observer photo of one of the many nurses on the front lines of this pandemic, at UNC Health

BIG Expectations for #BlackInGeneticsWeek