How can genomic screening be implemented in diverse populations?

Our new study in @GenomeMedicine explores this in the ancestrally diverse BioMe Biobank @IcahnMountSinai in NYC

https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-021-00832-y

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We launched a pilot genomic screening program to return results for
Hereditary breast and ovarian cancer syndrome
Lynch syndrome
Familial hypercholesterolemia

[CDC Tier 1 conditions: https://www.cdc.gov/genomics/implementation/toolkit/tier1.htm]

AND
Hereditary transthyretin amyloidosis (hATTR)

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Why hATTR
hATTR is common in African American & Hispanic/Latinx individuals (due to TTR V142I)
hATTR causes cardiomyopathy & heart failure
hATTR diagnosis is challenging & often delayed or missed
new treatments improve outcomes when used early

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The addition of TTR expanded the reach of our genomic screening program to African American, Hispanic/Latinx, and Spanish-speaking individuals.

[See https://www.mdpi.com/2075-4426/11/1/49 for our study characterizing hATTR-related features in those who received TTR V142I results.]

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Also, most BioMe participants across race/ethnicity groups are interested in receiving genomic results!

This is just the start of our mission to
translate genomic information into
patient care for diverse populations

with @EimearEKenny @SinaiGenHealth

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Huge thanks to all co-authors, including the amazingteam who discloses genomic results and counsels participants:
@EmilySoperGC
@SabrinaASuckiel
@GiovannaBragan7

And most of all to participants of the BioMe Biobank @BronfmanInst @IcahnMountSinai @MountSinaiNYC

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