Prof Nicky Hudson is the keynote speaker at Fertility 26, the conference of the British Fertility Society. Her talk is about @precas-project.bsky.social "Expanded carrier screening and gamete donation - understanding the complexities for UK fertility clinics". #GameteDonation #CarrierScreening

Carrier screening is shaping the future of human health, helping uncover inherited risks before they appear and expanding how we think about reproductive health, population genetics, and rare conditions.

See how the field is evolving: bit.ly/46qdv3d

#PacBio #CarrierScreening #HealthInnovation

Expanded and universal #carrierscreening offers broad public health benefits, but successful implementation will require addressing ethical, emotional, and healthcare system challenges. bit.ly/4fdKrk2 #GIMO #ReproductiveScreening #EthicalLegalAndSocialImplications

Reproductive Genetic Carrier Screening may help prevent IMD or at least better prepare parents for the risk. We spoke with the lead author of this paper, Dr Edwin Kirk, around the same topic in 2021:

podcasts.apple.com/gb/podcast/j...

open.spotify.com/episode/3IDz...
#raredisease #carrierscreening

Our PacBio #PureTarget launch is making waves.

Conor Hale at @FierceBiotech was among those covering how new carrier screening panels bring accuracy, scale, and efficiency to family planning research labs.

Read more: bit.ly/425REwJ

#PacBio #CarrierScreening #HiFisequencing

November is #NationalFamilyHealthHistoryMonth! 👪

Listen to our #sciencepodcast episode with Tristan Hardy to learn about #carrierscreening & #familyhistory ⬇️

This work sets a new benchmark for combining cutting-edge genomics with thoughtful, patient-centred care. Huge congratulations to the Mackenzie’s Mission team for this impactful study! 🎉 I can't tag them... yet.
#Genetics #ReproductiveHealth #CarrierScreening #Ethics #nephsky #medsky

The Mackenzie’s Mission reproductive #carrierscreening paper is out! For some this has been a >30 year crusade to reduce #geneticroulette

Congrats to all involved, incl the Casella family

There are few research studies that are truely transformative, this is one

www.nejm.org/doi/full/10....

Variety is the spice of life! Study using #gnomAD v4.0 shows the variability of gene carrier frequencies across ancestry groups, which may help guide the development of more informative #carrierscreening panels bit.ly/4gKws4t #atriskcouples #geneticancestry

Pathogenic and likely pathogenic BTD variants identified in a large reproductive carrier screening cohort are comparable to those identified via newborn screening bit.ly/4hUmWfy #carrierscreening #biotinidasedeficiency

🧵4/4: Special congrats to @miagruzin.bsky.social — this paper is the final publication from an outstanding PhD, before she returns to complete her MD.

#carrierscreening #genetictesting #valueofpathology

A #carrierscreening program targeting recessive disorders in a population with #foundereffect showed high acceptability and utility to support informed reproductive choices, highlighting potential for broader use. bit.ly/43HqCgl #GIMO #GeneticCounselling #SaguenayLacSaintJean

It’s about taking control. Structural Equation Modeling finds that agency is a key predictor for both #carrierscreening and #cancerpredispositiontesting among Latinos. bit.ly/4mZgyqx #integratedbehavoirmodel

Finding the carrier screening panel that’s “just right”. Study finds Goldilocks assays offer up to a two-fold improvement over Tier 3 gene lists for modeled genetic ancestries #carrierscreening #geneticcounseling @DrLeslieBurnett bit.ly/4cp9b77