PRIMED Consortium

Circle of PRIMED themes across discovery and methods, diversity and equity, gene-environment, clinical context, and clinical impact

The @prsmethods.bsky.social consortium - in 5 years, going from "Can we predict disease genetically" to "Can we predict disease in a way that's accurate, equitable, and clinically useful across diverse populations?"

Find out more at primedconsortium.org/research/hig...

The call for #DNADay26 essays is out! Open to students in grades 9-12 📝 🧬

Pro tip for genetics professionals: the contest is also often looking for judges...

Follow us for more highlights throughout the year and see our running lists of publications and research highlights
primedconsortium.org/publications...
primedconsortium.org/research/hig...
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November also saw the first data release of genetic and phenotypic data from the OurHealth study, with blended genome-exome sequencing funded by PRIMED,
primedconsortium.org/research/our... 8/

Recommendations for the responsible use of population descriptors in polygenic risk development were published in November
pubmed.ncbi.nlm.nih.gov/41286102 7/

ASHG 2025 PRIMED Abstracts

At #ASHG25, a range of PRIMED work was presented in talks and posters
docs.google.com/spreadsheets... 6/

PRIMED members investigated incorporating social determinants of health into disease prediction in the NIH All of Us Research Program

doi.org/10.1101/2025... 5/

The Data Sharing Working Group published a review of PRIMED consortium data sharing procedures and policy recommendations for future initiatives
pubmed.ncbi.nlm.nih.gov/40628271 4/

The Population Descriptors, Social and Ethical Implications Working Group published a new data model that allows flexible and responsible use of population descriptors, and aligns with @nationalacademies.org recommendations

pubmed.ncbi.nlm.nih.gov/40513563 3/

We joined Bluesky! Here’s our PRIMED investigator starter pack - bsky.app/starter-pack... 2/

PRIMED Year in Review: Join us as we look back on some of what @prsmethods.bsky.social consortium members accomplished in 2025 to help improve genetic risk prediction in global populations 1/

Funding for BGE sequencing and analyses are provided through the NIH-funded PRIMED Consortium @prsmethods.bsky.social

For more information and how to apply for access, visit primedconsortium.org/research/our...

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The release includes self-reported basic demographics, anthropometric traits, cardiometabolic outcomes, and Blended Genome-Exome sequencing data on 621 study participants

2/

🧬🫀🌏 NEW data release from the OurHealth study of Cardiovascular Disease in South Asians now available on @anvilproject.org!
anvilproject.org/news/2025/11...
1/

Recommendations for responsible use of population descriptors in polygenic risk score development - Nature Genetics In this Perspective, authors from the Polygenic Risk Methods Development (PRIMED) Consortium highlight the ethical and analytical impact of population descriptors in polygenic risk score development a...

📢 New from the @prsmethods.bsky.social consortium, "Recommendations for responsible use of population descriptors in polygenic risk score development"! H/t to leads @johannalsmith.bsky.social and Quan Sun

www.nature.com/articles/s41...
in @natgenet.nature.com

🎉 Congrats to Julie-Alexia Dias and thanks for the shout out to @prsmethods.bsky.social !

"Some of the most formative parts of my own training have come from working across groups and institutions...through my involvement in PRIMED (Polygenic Risk Methods Development)..."

Quantifying Social Determinants of Health for Disease Prediction: A Multi-Level Approach Using Healthy People 2030 and All of Us Data Despite the growing recognition that social determinants of health (SDoH) play a prominent role in shaping health outcomes, inconsistent measures across health systems and research studies - and the a...

👀 🔖 ICYMI @prsmethods.bsky.social investigators report on incorporating social determinants of health into disease prediction in the NIH All of Us research program - www.medrxiv.org/content/10.1...

ASHG 2025 PRIMED Abstracts

Attending #ASHG25? Learn how @prsmethods.bsky.social investigators are improving polygenic risk prediction in diverse populations by visiting these talks and posters docs.google.com/spreadsheets...

👀🔖 Check out this new review by @prsmethods.bsky.social member Iftikhar Kullo, which explores the current state of the field, highlights key challenges, and outlines future directions for the use of PRSs to improve risk prediction and to advance personalized prevention in clinical care

Exposure accumulation drives age-dependent disease architectures and polygenic risk scores Our understanding of the dependence of the genetic and environmental architecture of common diseases on age is incomplete. Here, we use longitudinal data to quantify age-dependent genetic and environm...

Excited to share our latest manuscript, "Exposure accumulation drives age-dependent disease architectures and polygenic risk scores," led by Xilin Jiang: www.medrxiv.org/content/10.1...

I am attempting an explainer thread for the first time here:
(I am usually too exhausted to post one)

‪The PRIMED Consortium has a new handle: @prsmethods.bsky.social! Please tag us there when referencing our work or to share with us the latest in PRS methods development. We’re excited to keep connecting with you!

👀 🔖 Congrats to @aliciahuerta.bsky.social @josepmercader.bsky.social and @prsdiversity.bsky.social co-authors and collaborators on this pre-print demonstrating that multi-ancestry PRSs improve T2D prediction across all ancestries

www.medrxiv.org/content/10.1...

📣 Reminder that @anvilproject.org is calling all genomic researchers, data scientists, and cloud computing enthusiasts to register for the AnVIL Community Conference

In-person registration closes Aug 19: https:/bit.ly/anvil2025

Thanks to @elsihub.bsky.social for featuring "A data model for population descriptors in genomic research" from the NIH-funded @prsdiversity.bsky.social consortium in their "New Publications" section!

www.cell.com/ajhg/abstrac...
elsihub.org/news-and-eve...

🚨 Registration is OPEN for #AnVILCommunity2025 Conference! Join us in Nashville, Sept 3-5 for talks, posters, & CoFest!

- Regular rate ($75): bit.ly/acc2025-register
- Student rate ($25): bit.ly/acc2025-register-student
- Virtual (free!): bit.ly/acc2025-register-virtual

Don’t miss it!

Co-authors include @johannalsmith.bsky.social, @quennawong.bsky.social, Whitney Hornsby, @mconomos.bsky.social, @blueyedgenes.bsky.social, and the Data Sharing Working Group!

@prsdiversity.bsky.social is an NHGRI and NCI funded Consortium

🎉 Out now in @ajhgnews.bsky.social: the @prsdiversity.bsky.social perspective on data sharing to improve genetic risk prediction in global populations 🧬🌎 🌍🌏

See also our thread on the pre-print - bsky.app/profile/prsd...

ICYMI - see this recent work from the NIH-funded PRIMED Consortium @prsdiversity.bsky.social introducing a data model for population descriptors in genomic research 🎉 published in @ajhgnews.bsky.social

www.cell.com/ajhg/abstrac...

Happy #DNADay25 from the PRIMED Consortium @prsdiversity.bsky.social!

Genetic information can help improve risk prediction for a broad range of health outcomes.

Learn more:
🧬 Publications: primedconsortium.org/publications...
🧬 Research Highlights: primedconsortium.org/research/hig...

I wrote a thing.

I am eternally grateful for my editor, who took the original draft and helped me narrow down my key points into a more effective piece with a broader reach.

Also, thanks to the editorial & legal teams, who maintained the message while protecting us in this fraught moment.