Discover and read the best of Twitter Threads about #expandedcarrierscreening
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.@TheACMG recommends all pregnant patients and those planning a pregnancy should be offered screening for a panel of 100+ genes (autosomal recessive genes with a carrier frequency of ≥1/200 & & certain X-linked genes) go.nature.com/36NagVd #GCchat #ExpandedCarrierScreening
They specifically highlight that they DO NOT recommend offering Tier 1 (CF & SMA only) and/or Tier 2 (genes w/ ≥1/100 carrier frequency) screening, because these do not provide equitable evaluation of all racial/ethnic groups. #expandedcarrierscreening #GCchat
ACMG states: Carrier screening paradigms should be ethnic and population neutral and more inclusive of diverse populations to promote equity and inclusion. #expandedcarrierscreening #GCchat
