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. 2021 Feb 5;13(1):17.
doi: 10.1186/s13073-021-00832-y.

Implementing genomic screening in diverse populations

Noura S Abul-Husn  1   2   3 , Emily R Soper  4   5 , Giovanna T Braganza  4 , Jessica E Rodriguez  4 , Natasha Zeid  6 , Sinead Cullina  4 , Dean Bobo  4 , Arden Moscati  4   7 , Amanda Merkelson  7 , Ruth J F Loos  7 , Judy H Cho  5   8   7 , Gillian M Belbin  4   5 , Sabrina A Suckiel  4   5 , Eimear E Kenny  4   5   8
Affiliations

Implementing genomic screening in diverse populations

Noura S Abul-Husn et al. Genome Med. .

Abstract

Background: Population-based genomic screening has the predicted ability to reduce morbidity and mortality associated with medically actionable conditions. However, much research is needed to develop standards for genomic screening and to understand the perspectives of people offered this new testing modality. This is particularly true for non-European ancestry populations who are vastly underrepresented in genomic medicine research. Therefore, we implemented a pilot genomic screening program in the BioMe Biobank in New York City, where the majority of participants are of non-European ancestry.

Methods: We initiated genomic screening for well-established genes associated with hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome (LS), and familial hypercholesterolemia (FH). We evaluated and included an additional gene (TTR) associated with hereditary transthyretin amyloidosis (hATTR), which has a common founder variant in African ancestry populations. We evaluated the characteristics of 74 participants who received results associated with these conditions. We also assessed the preferences of 7461 newly enrolled BioMe participants to receive genomic results.

Results: In the pilot genomic screening program, 74 consented participants received results related to HBOC (N = 26), LS (N = 6), FH (N = 8), and hATTR (N = 34). Thirty-three of 34 (97.1%) participants who received a result related to hATTR were self-reported African American/African (AA) or Hispanic/Latinx (HL), compared to 14 of 40 (35.0%) participants who received a result related to HBOC, LS, or FH. Among the 7461 participants enrolled after the BioMe protocol modification to allow the return of genomic results, 93.4% indicated that they would want to receive results. Younger participants, women, and HL participants were more likely to opt to receive results.

Conclusions: The addition of TTR to a pilot genomic screening program meant that we returned results to a higher proportion of AA and HL participants, in comparison with genes traditionally included in genomic screening programs in the USA. We found that the majority of participants in a multi-ethnic biobank are interested in receiving genomic results for medically actionable conditions. These findings increase knowledge about the perspectives of diverse research participants on receiving genomic results and inform the broader implementation of genomic medicine in underrepresented patient populations.

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Conflict of interest statement

N.S.A-H. was previously employed by Regeneron Pharmaceuticals and has received a speaker honorarium from Genentech. E.E.K. has received speaker honoraria from Illumina and Regeneron Pharmaceuticals. The remaining authors declare no competing interests.

Figures

Fig. 1
Fig. 1
Previously enrolled BioMe participants’ (N = 72) survey responses regarding a preferred person to disclose genomic results and b preferred mode of result delivery. Participants were most likely to prefer that a genetic counselor (45.7%) disclose results and that results be returned by mailed letter (50.0%) or in person (38.6%)
Fig. 2
Fig. 2
Pilot genomic screening program. Schematic outlining a pilot genomic screening program to return clinically confirmed pathogenic and likely pathogenic (P/LP) variants in genes related to hereditary breast and ovarian cancer syndrome (HBOC), Lynch syndrome (LS), familial hypercholesterolemia (FH), and hereditary transthyretin amyloidosis (hATTR)
Fig. 3
Fig. 3
Preferences for receiving genetic results among 7461 newly enrolled BioMe participants across sex, age, and self-reported race/ethnicity groups. a 94.2% of females vs. 92.2% of males indicated that they wished to receive results (chi-square p = 6.8 × 10−4). b Younger participants were more likely to opt to receive results than older participants (chi-square p = 4.3 × 10−13). c Preference for receiving results varied by self-reported race/ethnicity (chi-square p = 6.2 × 10−11). AA, African American/African; EA, European; ESA, East/Southeast Asian; HL, Hispanic/Latinx; SA, South Asian
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References

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