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Dr Cristina Hickman responds to Peter Thompson, Chief Executive of the @HFEA recent article published in BioNews: www.progress.org.uk/pgt-p-in-the...

#PolygenicRisk #Risk #PolygenicRiskScores #HFEA #Embryology #Reproduction #GeneticTesting #Fertility #Regulation #FertilityClinics #Law

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Day 2 at the #BETTER4U plenary in Bern 🇨🇭 the team are discussing how to clearly and responsibly communicate about #PolygenicRiskScores (PRS) in the context of health 🧬

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Genomic platform specific polygenic risk scores impact breast cancer risk stratification - Communications Medicine Ho et al. investigate the impact of choice of sequencing platform on identification of specific variants for breast cancer risk stratification. Platform-specific variability is found to influence PRS313 estimates, potentially reclassifying individuals around clinically relevant thresholds.

🚨 NEW RESEARCH! ⚕️ 🩺

Ho et al. find that the choice of sequencing platform influences the identification of specific variants for breast cancer risk stratification.

http://dlvr.it/TQv4pK

#BreastCancer #PolygenicRiskScores

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GP perspectives on genomics in primary care: a qualitative study on using polygenic risk scores to evaluate cancer risk | British Journal of General Practice

Australian GPs report #PolygenicRiskScores in #PrimaryCare on cancer risk as positive for prompting lifestyle change and complex health discussion.

Barriers included time constraints, need to upskill GPs, potential psychosocial harms, and life-insurance implications doi.org/10.3399/BJGP...

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If you are attending the #PETconf25 then here is a must-read BioNews comment piece about PGT-P written by Professor Angus Clarke - panellist in Session 4
Read in BioNews: www.progress.org.uk/the-clinical...

#PGTP #PolygenicRiskScores #PolygenicRisk #Embryos #Fertility #Genetics #DNA

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Integrating Multi-Ancestry Polygenic Risk Scores and Wearable Data to Detect Depression and Gene-Environment Interactions in Youth
Chen, N. et al.
Paper
Details
#PolygenicRiskScores #WearableHealth #YouthMentalHealth

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Polygenic Embryo Selection and the Future of IVF: Science Nearing Prime Time Even then, I felt the tension between scientific wonder and social unease—questions of control, randomness, and what it means to intervene in creation.

www.nursewhowrites.com/post/polygen...

Polygenic Risk Scores (PRS) and the Future of IVF: Science, Ethics, and the Edge of Eugenics

#PolygenicRiskScores #IVFScience #EmbryoScreening #GenomicEthics #EugenicsDebate #ReproductiveTechnology #AGI #FutureOfHumanity #ShiftWorkersParadox #NurseWhoWrites

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🧬 PRSs in practice (2/5): Do higher-risk polygenic risk score (PRS) results really cause distress?

Evidence so far doesn’t suggest substantial or lasting psychological harm — though research remains limited.

👉 rdcu.be/eNeKN

#Genomics #PolygenicRiskScores #Risk #MentalHealth #Depression #Anxiety

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Psychological and behavioural considerations for integrating polygenic risk scores for disease into clinical practice Nature Human Behaviour - The application of polygenic risk scores (PRSs) in clinical practice has advanced but also received criticism. In this Perspective, major psychological and behavioural...

Rather than slowing implementation, the answer is education, engagement, and co-design — not avoidance.

Read the paper here 👉 rdcu.be/eNeKN

#PolygenicRiskScores #Genomics #RiskCommunication #PublicUnderstandingOfRisk #ScienceCommunication #PrecisionMedicine

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Distinct Neurodevelopmental Signatures of Sex-Specific Transcriptome-Based Polygenic Risk Scores for Depression
Clifford, K. P., Dos Santos, F. C. et al.
Paper
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#NeurodevelopmentDepression #PolygenicRiskScores #SexSpecificGenetics

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Pathway-Specific Polygenic Risk Scores for Blood Pressure Traits in a West African Cohort
Adebamowo, S. N., Adeyemo, A. A. et al.
Paper
Details
#PolygenicRiskScores #BloodPressureGenetics #WestAfricanHealthStudies

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Ancestry Calibration of Polygenic Risk Scores Improves Risk Stratification and Effect Estimation in African American Adults
Armstrong, N. D., Carry, P. M. et al.
Paper
Details
#AncestryCalibration #PolygenicRiskScores #AAHealthResearch

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Enhancing Suicide Risk Prediction With Polygenic Scores in Psychiatric Emergency Settings: Prospective Study Background: Despite growing interest in the clinical translation of polygenic risk scores (PRSs), it remains uncertain to what extent genomic information can enhance the prediction of psychiatric outcomes beyond the data collected during clinical visits alone. Objective: This study aimed to assess the clinical utility of incorporating PRSs into a suicide risk prediction model trained on electronic health records (EHRs) and patient-reported surveys among patients admitted to the emergency department. Methods: Study participants were recruited from the psychiatric emergency department at Massachusetts General Hospital. There were 333 adult patients of European ancestry who had high-quality genotype data available through their participation in the Mass General Brigham Biobank. Multiple neuropsychiatric PRSs were added to a previously validated suicide prediction model in a prospective cohort enrolled between February 4, 2015, and March 13, 2017. Data analysis was performed from July 11, 2022, to August 31, 2023. Suicide attempt was defined using diagnostic codes from longitudinal EHRs combined with 6-month follow-up surveys. The clinical risk score for suicide attempt was calculated from an ensemble model trained using an EHR-based suicide risk score and a brief survey, and it was subsequently used to define the baseline model. We generated PRSs for depression, bipolar disorder, schizophrenia, suicide attempt, and externalizing traits using a Bayesian polygenic scoring method for European ancestry participants. Model performance was evaluated using area under the receiver operator curve (AUC), area under the precision-recall curve, and positive predictive values. Results: Of the 333 patients (n=178, 53.5% male; mean age 36.8, SD 13.6 years; n=333, 100% non-Hispanic and n=324, 97.3% self-reported White), 28 (8.4%) had a suicide attempt within 6 months. Adding either the schizophrenia PRS or all PRSs to the baseline model resulted in the numerically highest discrimination (AUC 0.86, 95% CI 0.73-0.99) compared to the baseline model (AUC 0.84, 95% Cl 0.70-0.98). However, the improvement in model performance was not statistically significant. Conclusions: In this study, incorporating genomic information into clinical prediction models for suicide attempt did not improve patient risk stratification. Larger studies that include more diverse participants are required to validate whether the inclusion of psychiatric PRSs in clinical prediction models can enhance the stratification of patients at risk of suicide attempts.

Enhancing Suicide Risk Prediction With Polygenic Scores in Psychiatric Emergency Settings: Prospective Study #SuicidePrevention #MentalHealth #Genetics #PolygenicRiskScores #Psychiatry

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Getting straight to the point. Communicating absolute risk when dealing with polygenic risk scores is the most acceptable way to report personalized risk. #PGS #polygenicriskscores #geneticcounseling. bit.ly/43aOZkV

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Key point: We calculated polygenic risk scores for genetic generalized epilepsy and for focal epilepsy in individuals from 257 multiplex epilepsy families.
onlinelibrary.wiley.com/doi/full/10....

#epilepsy #ILAE #familialepilepsy #focalepilepsy #geneticgeneralizedepilepsy #polygenicriskscores

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Bupa plans to offer a new genomic screening approach to clients that, it is claimed, can evaluate an individual's risk of developing seven common diseases. Dr Joanne Delange writes in BioNews: www.progress.org.uk/polygenic-ri...
#polygenicriskscores #polygenics #genomics #genetics #healthinsurance

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💡 Could preventive genomic medicine save $200 billion in healthcare costs?

MyOme co-founder Dr. Rabinowitz explains how tools like whole #genomesequencing and #polygenicriskscores are shifting #medicine from reactive to proactive.

🎧 DNA Today Ep. 329: dnapodcast.com/episodes/202...

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Day1 was mixed - historical foundation of #Eugenics, 1.3million #adversedrugreactions and sobering character assignation of #polygenicriskscores. on the other side @nhsgms.bsky.social seem to be taking data seriously. What do we think day 2 has in store? #FOG2025

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Prof. David Curtis @ugiatucl.bsky.social shared how #PolygenicRiskScores originated as way to justify a failed schizophrenia #GWAS, reminded me of @adamrutherford.bsky.social earlier talk. It is vital to understand the history of our beloved #genomic techniques. #FOG2025

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It was great to see Prof Aroon Hingorani from @ugiatucl.bsky.social delving into the evidence for use of #polygenicriskscores. It's not optimistic. Check out resources below. #FOG2025

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Excited to share our ongoing research at the GI/MRI Annual Conference, University of Tartu! Exploring how #depression often precedes #dementia and the role of #polygenicriskscores. Let’s uncover the connections! 🧠✨ #ResearchInProgress

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Topics include:

🩺 #Hemochromatosis management
📈 #PolygenicRiskScores #PRS in diverse populations
🧬 #CRISPR treating #retinaldisease
👶 #Genome sequencing in #NICUs

…and so much more.

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Evaluating Performance and Agreement of Coronary Heart Disease Polygenic Risk Scores This study aims to characterize the individual-level agreement of polygenic risk scores for coronary heart disease that perform similarly at the population level.

I think this JAMA article from last week received insufficient attention - different computations of PRS for the same disease, despite nearly identical population performance, resulted in very different classifications at the individual level #polygenicriskscores
jamanetwork.com/journals/jam...

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NOW HIRING
#postdocjobs
NIH funding for a #postdoc with interest in complex genetics / computation / analysis
#GWAS #rarevariants #polygenicriskscores
in multiple research contexts:
psychiatric genomics; cognitive genomics; embryo screening...
acnp.org/wp-content/u...

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Lots of interesting discussions on polygenic risk scores and their implementation @HarvardPqg - Diversity in Genetics and Genomics.
#polygenicriskscores #prs #environment #diversity #biobanks #precisionmedicine

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