Leading clinical-grade genomic risk assessments for common diseases allowing patients and providers to proactively manage genetic predispositions
Chicago
Joined October 2022
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GenomicMD retweeted
Can the polygenic risk of coronary artery disease identify who should start statins at lower LDL cutoffs? Absolutely. High-risk PRS scores + moderate LDL have CAD event rates similar to those with severe LDL.
bit.ly/46JUnhC @pnatarajanmd @ASPCardio #PreventiveCardiology
GenomicMD retweeted
Thanks to many who attended our CVI Personalized Medicine Symposium: genomicmd.com/endeavor-cardi… @EndeavorHlth @amitvkhera @GenomicMD @EndeavorHlth
GenomicMD retweeted
The top 10 photos from last night’s solar storm & aurora borealis around the world.
1. Netherlands (@albertdrosphoto)
GenomicMD retweeted
Invitae Files for Chapter 11 Bankruptcy Protection. In its petition, Invitae said it had assets of between $500 million and $1 billion, along with liabilities of $1 billion to $10 billion. ow.ly/HWm4105gQLc
GenomicMD retweeted
Let's go @GenomicMD! Endeavor Health, Partnering with GenomicMD, Advances Personalized Medicine Leadership with Polygenic Risk Score Of... prn.to/4aJK5yB
GenomicMD retweeted
As genomics becomes more integrated into clinical care, healthcare practitioners need updated and concise resources to help increase their genomic literacy.
GenomicMD retweeted
Evidence from GWAS gets results:
The new CRISPR-based therapy for sickle cell disease & beta-thal is a win for GWAS.
The target (BCL11A) for the @VertexPharma @CRISPRTX therapy was first prioritized by GWAS of HbF & disease modification, with subsequent molecular characterization of the prioritized gene.
Some key refs 👇:
nature.com/articles/ng2108 @NatureGenet (Menzel et al 2007)
pnas.org/doi/10.1073/pnas.07… @PNASNews (Uda et al 2008)
pnas.org/doi/10.1073/pnas.08… @PNASNews (Lettre et al 2008)
science.org/doi/10.1126/scie… @ScienceMagazine (Sankaran et al 2008)
@bloodgenes was a @harvardmed student & his paper was published around the time he was my subintern @BrighamWomens while I was an intern @BrighamMedRes!
Now I have a lot of pride describing this story to 1st-year @harvardmed students when teaching in the genetics course directed by @joelhirschhorn, another key player in this story. Also, now my wife works closely with my grand-mentor D. Altshuler @VertexPharma to bring this therapy to patients.
GenomicMD retweeted
Most genomics studies to date have involved people of European ancestry. The resulting lack of diversity now hinders the ability to fully understand how genomic variants contribute to health and disease in all groups, including non-European populations.
GenomicMD retweeted
Here is the link to the research study @GenomicMD: genomes2people.org/wp-conten…
GenomicMD retweeted
Is it time for health systems to offer preventive genomic screening? We think so and we are working to help them do it through Precision Population Health (PPH) initiative led by @AriadneLabs and @Genomes2People.
Read how in our blog post by @CarrieBlout: bit.ly/3Pi33DM
Time for #hospitals to bring #preventative #genomic #screening to #patients via @Genomes2People
bit.ly/3EaBDcA
GenomicMD retweeted
Excellent review of using human genetics to inform therapeutic development. Mostly informed by rare loss-of-function alleles to-date with emerging opportunities informed by common variants. nature.com/articles/s41586-0… @Nature
GenomicMD retweeted
Great work Amit @GenomicMD
Super proud to share work led by @AniruddhPatelMD + @wallacemwang
Substantially improving 2018 polygenic score for heart disease w/ data from more ancestries and related traits
5% of population born with 5x normal risk based on common DNA variations
broad.io/heart-disease-risk-…
GenomicMD retweeted
Even with proper risk representation, patients & physicians can translate risk estimate into an improved health outcome only if it changes clinical action.
Read our @HGGAdvances top-cited paper: PRSs in the clinic: Translating risk into action. ⬇️
🔗 bit.ly/3JYgLIy
GenomicMD retweeted
high genetic risk individuals who look otherwise healthy and would respond well to approved treatments is THE compelling use case for PRS, isn't it?
GenomicMD retweeted
If the argument is that we can't say BRCA screening saves lives until an RCT is read out, that sounds like semantics to me. And in cases where we already have risk-based screening protocols, what is the nuance of incorporating additional risk factors that an RCT would resolve?
GenomicMD retweeted
I agree for something like PARPi that target the mechanism. But most ACMG screening is for risk and there's no evidence that I've seen that high-PRS is fundamentally different than other genetic factors in terms of the risk profile.
GenomicMD retweeted
This thread is remarkably bleak. We have a cheap, non-invasive screening tool that is shown to save lives across multiple modeling analyses. Yet the public health response is basically "eww, cringe".
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GenomicMD retweeted
When you are dead, you don't know you are dead. It's pain only for others.
It's the same thing when you are stupid.
GenomicMD retweeted
Most genomics studies to date have involved people of European ancestry. The resulting lack of diversity involving non-European populations now hinders the ability to fully understand how genomic variants contribute to health and disease in all groups.
