.@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
Overall this practice resource is supporting of expanded carrier screening but it will be interesting to see how it is adopted by the non-genetics professionals who order the majority of carrier screening. #GCchat
I also wonder if there could be a 1 page summary that condenses the main points about what is recommended bc I think some folks can get a bit lost in the document. Or even an additional doc that combines all the tables to provide a singular table w/ the recommended genes. #GCchat
And while I would love to see carrier screening = expanded carrier screening, I'm not sure how easily we can change the language that we have been using for over a decade to describe screening for more than CF, SMA & genes based on ethnicity. #GCchat
I am 100% here for an approach that will allow patients and health-care professionals to communicate with greater precision but not sure a tiered approach is the way? I'm curious to hear from some others on what they think would be the best. #GCchat
They also call on labs to describe the corresponding ACMG tier along with the content of carrier screening panels in the laboratory report which will be an interesting update. #GCchat
I do appreciate how they recognize that offering a comprehensive Tier 3 panel to all is only the first step toward equity in carrier screening and clinical follow up. #GCchat
And highlight that "Working collaboratively genetics professionals are encouraged to innovate by utilizing telemedicine and online tools to overcome challenges to the workforce." #GCchat
I also appreciate that ACMG ends their practice resource with a call to payers to provide coverage for Tier 3 carrier screening to ensure equitable care to all individuals including those disadvantaged by race and financial hardship. That should be more routine #GCchat
All in all, a practice resource that is supportive of expanded carrier screening and making our practice more inclusive and equitable. The next step would be to work with SMFM, ACOG, and NSGC to help make this resource a reality...#GCchat

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More from @aishuarjun

21 Nov 20
I am incredibly honored and humbled to receive this award & thank you so much to @carrie_haverty for the nomination. Having you as a mentor, colleague & ally has meant so much.
But if I can say something else, I am also incredibly frustrated at our NSGC community #NSGC20 #GCchat
To see people make excuses & provide reasons as to why they may not have participated in the membership DEI survey is ridiculous. Yes, we are in the middle of a pandemic. We ALL are. & everyone has been impacted in some way or another. That is not an excuse. #NSGC20 #GCchat
People that are BIPOC are doing more of the work than ANYONE in the majority with not only a pandemic going on but also fearing for their lives and safety due to the environment we live in. #NSGC20 #GCchat
Read 11 tweets
20 Nov 20
What are things you wish other GCs knew? Or misconceptions that you want to correct?
@shreshthaGC #NSGC20
1. Ambition is not a bad thing. Ambition should be valued as a positive.
2. We tend value loyalty over innovation or over growth and we need to change that.
@twitherington #NSGC20 I am not my company. You may disagree with some policies but at the end of the day we are all trying to do good work.
#NSGC20 @SohneeAhmed
Psychosocial counseling is still a part of what I do. Even if I don't have direct face-to-face patient interaction I still am utilizing my GC skills and it doesn't make me less of a counselor by moving from clinical to non-clinical.
Read 5 tweets
20 Nov 20
Ready for our state of the society address with @gillianhoo!!! #NSGC20
Gillian highlights the challenges of this year with COVID, social and racial injustice and general uncertainty. And we've had to face all of this head on knowing that inaction reflects the biggest mistake we could make. #NSGC20
But it's been a test of our skills and training. We've had to shift, pivot, flex, and understand what we can and can't control. Through it all, our strength has come from our incredible growing energetic community of GCs. #NSGC20
Read 64 tweets
19 Nov 20
Next plenary: More than just raising our voices: confronting injustices in patient care moderated by @ERamosSD! #NSGC20
Shawneequa Callier highlights some issues we've been discussing: lagging diversity w/i the scientific community which then translates to inequitable policies, guidelines and access. #NSGC20
SC highlights how as more patients were tested in diverse populations we were able to reduce the VUS rate for BRCA in non-White groups. #NSGC20
Read 4 tweets
19 Nov 20
What's at stake here? Black women are less likely to participate in genetic risk assessment & counseling. Less likely than white women to know about risk reducing therapies. #NSGC20
Black women also have less knowledge about risk factors for breast cancer & perceive themselves to be at lower risk for developing it. All of this contributes to the fact that Black women in the US are 40% more likely to die from breast cancer than white women. #NSGC20
Read 29 tweets

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