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
November is #NationalFamilyHealthHistoryMonth! 👪
Listen to our #sciencepodcast episode with Tristan Hardy to learn about #carrierscreening & #familyhistory ⬇️
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
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
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
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
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
Screenshot of Table 3: BTD pathogenic or likely pathogenic variant frequencies by race/ethnicity First column label: Race/Ethnicity Second column label: BTD Heterozygous Positive Third column label: BTD Heterozygote Frequency (95% CI) 1st Row entries: Black/111/1 in 50 (1 in 61, 1 in 42) 2nd Row: Asian/220/1 in 36 (1 in 42, 1 in 32) 3rd Row: Hispanic/393/1 in 20 (1 in 22, 1 in 18) 4th Row: White/2231/1 in 12 (1 in 12, 1 in 11) 5th Row: Other/848/ 1 in 17 (1 in 18, 1 in 16) 6th Row: Missing/1822/ 1 in 16 (1 in 17, 1 in 16)
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
Screenshot of Figure 1: The number of autosomal recessive genes that have GCF ≥ 0.5% for each genetic ancestry group. AFR, African/African American; AMR, Admixed American; ASJ, Ashkenazi Jewish; EAS, East Asian; FIN, Finnish; MID, Middle Eastern; NFE, European (non-Finnish); SAS, South Asian.
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
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
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....
