Noura S Abul-Husn1,2,3, Emily R Soper4,5, Giovanna T Braganza4, Jessica E Rodriguez4, Natasha Zeid6, Sinead Cullina4, Dean Bobo4, Arden Moscati4,7, Amanda Merkelson7, Ruth J F Loos7, Judy H Cho5,8,7, Gillian M Belbin4,5, Sabrina A Suckiel4,5, Eimear E Kenny4,5,8. 1. The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA. noura.abul-husn@mssm.edu. 2. Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA. noura.abul-husn@mssm.edu. 3. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. noura.abul-husn@mssm.edu. 4. The Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA. 5. Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA. 6. Cardiogenetics, GeneDx Inc., Gaithersburg, MD, USA. 7. The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA. 8. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
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.
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.
Authors: Frederick E Dewey; Michael F Murray; John D Overton; Lukas Habegger; Joseph B Leader; Samantha N Fetterolf; Colm O'Dushlaine; Cristopher V Van Hout; Jeffrey Staples; Claudia Gonzaga-Jauregui; Raghu Metpally; Sarah A Pendergrass; Monica A Giovanni; H Lester Kirchner; Suganthi Balasubramanian; Noura S Abul-Husn; Dustin N Hartzel; Daniel R Lavage; Korey A Kost; Jonathan S Packer; Alexander E Lopez; John Penn; Semanti Mukherjee; Nehal Gosalia; Manoj Kanagaraj; Alexander H Li; Lyndon J Mitnaul; Lance J Adams; Thomas N Person; Kavita Praveen; Anthony Marcketta; Matthew S Lebo; Christina A Austin-Tse; Heather M Mason-Suares; Shannon Bruse; Scott Mellis; Robert Phillips; Neil Stahl; Andrew Murphy; Aris Economides; Kimberly A Skelding; Christopher D Still; James R Elmore; Ingrid B Borecki; George D Yancopoulos; F Daniel Davis; William A Faucett; Omri Gottesman; Marylyn D Ritchie; Alan R Shuldiner; Jeffrey G Reid; David H Ledbetter; Aris Baras; David J Carey Journal: Science Date: 2016-12-23 Impact factor: 47.728
Authors: Noura S Abul-Husn; Kandamurugu Manickam; Laney K Jones; Eric A Wright; Dustin N Hartzel; Claudia Gonzaga-Jauregui; Colm O'Dushlaine; Joseph B Leader; H Lester Kirchner; D'Andra M Lindbuchler; Marci L Barr; Monica A Giovanni; Marylyn D Ritchie; John D Overton; Jeffrey G Reid; Raghu P R Metpally; Amr H Wardeh; Ingrid B Borecki; George D Yancopoulos; Aris Baras; Alan R Shuldiner; Omri Gottesman; David H Ledbetter; David J Carey; Frederick E Dewey; Michael F Murray Journal: Science Date: 2016-12-23 Impact factor: 47.728
Authors: Tineke M Meulenkamp; Sjef K Gevers; Jasper A Bovenberg; Gerard H Koppelman; Astrid van Hylckama Vlieg; Ellen M A Smets Journal: Am J Med Genet A Date: 2010-10 Impact factor: 2.802
Authors: Marci L B Schwartz; Cara Zayac McCormick; Amanda L Lazzeri; D'Andra M Lindbuchler; Miranda L G Hallquist; Kandamurugu Manickam; Adam H Buchanan; Alanna Kulchak Rahm; Monica A Giovanni; Lauren Frisbie; Carroll N Flansburg; F Daniel Davis; Amy C Sturm; Christine Nicastro; Matthew S Lebo; Heather Mason-Suares; Lisa Marie Mahanta; David J Carey; Janet L Williams; Marc S Williams; David H Ledbetter; W Andrew Faucett; Michael F Murray Journal: Am J Hum Genet Date: 2018-08-09 Impact factor: 11.025
Authors: Adam H Buchanan; Kandamurugu Manickam; Michelle N Meyer; Jennifer K Wagner; Miranda L G Hallquist; Janet L Williams; Alanna Kulchak Rahm; Marc S Williams; Zong-Ming E Chen; Chaitali K Shah; Tullika K Garg; Amanda L Lazzeri; Marci L B Schwartz; D'Andra M Lindbuchler; Audrey L Fan; Rosemary Leeming; Pedro O Servano; Ashlee L Smith; Victor G Vogel; Noura S Abul-Husn; Frederick E Dewey; Matthew S Lebo; Heather M Mason-Suares; Marylyn D Ritchie; F Daniel Davis; David J Carey; David T Feinberg; W Andrew Faucett; David H Ledbetter; Michael F Murray Journal: Genet Med Date: 2017-10-26 Impact factor: 8.822
Authors: Alice B Popejoy; Kristy R Crooks; Stephanie M Fullerton; Lucia A Hindorff; Gillian W Hooker; Barbara A Koenig; Natalie Pino; Erin M Ramos; Deborah I Ritter; Hannah Wand; Matt W Wright; Michael Yudell; James Y Zou; Sharon E Plon; Carlos D Bustamante; Kelly E Ormond Journal: Am J Hum Genet Date: 2020-06-06 Impact factor: 11.025
Authors: Noura S Abul-Husn; Emily R Soper; Jacqueline A Odgis; Sinead Cullina; Dean Bobo; Arden Moscati; Jessica E Rodriguez; Ruth J F Loos; Judy H Cho; Gillian M Belbin; Sabrina A Suckiel; Eimear E Kenny Journal: Genome Med Date: 2019-12-31 Impact factor: 11.117
Authors: Adam H Buchanan; H Lester Kirchner; Marci L B Schwartz; Melissa A Kelly; Tara Schmidlen; Laney K Jones; Miranda L G Hallquist; Heather Rocha; Megan Betts; Rachel Schwiter; Loren Butry; Amanda L Lazzeri; Lauren R Frisbie; Alanna Kulchak Rahm; Jing Hao; Huntington F Willard; Christa L Martin; David H Ledbetter; Marc S Williams; Amy C Sturm Journal: Genet Med Date: 2020-06-30 Impact factor: 8.864
Authors: Danya F Vears; Joel T Minion; Stephanie J Roberts; James Cummings; Mavis Machirori; Mwenza Blell; Isabelle Budin-Ljøsne; Lorraine Cowley; Stephanie O M Dyke; Clara Gaff; Robert Green; Alison Hall; Amber L Johns; Bartha M Knoppers; Stephanie Mulrine; Christine Patch; Eva Winkler; Madeleine J Murtagh Journal: PLoS One Date: 2021-11-08 Impact factor: 3.240
Authors: Laney K Jones; Natasha T Strande; Evan M Calvo; Jingheng Chen; Gabriela Rodriguez; Cara Z McCormick; Miranda L G Hallquist; Juliann M Savatt; Heather Rocha; Marc S Williams; Amy C Sturm; Adam H Buchanan; Russell E Glasgow; Christa L Martin; Alanna Kulchak Rahm Journal: Front Genet Date: 2022-05-25 Impact factor: 4.772
Authors: Caitlin G Allen; Daniel P Judge; Elissa Levin; Katherine Sterba; Kelly Hunt; Paula S Ramos; Cathy Melvin; Karen Wager; Kenneth Catchpole; Catherine Clinton; Marvella Ford; Lori L McMahon; Leslie Lenert Journal: Implement Sci Commun Date: 2022-04-28
Authors: Megan C Roberts; Alison E Fohner; Latrice Landry; Dana Lee Olstad; Amelia K Smit; Erin Turbitt; Caitlin G Allen Journal: Genome Med Date: 2021-06-01 Impact factor: 11.117
Authors: Nicole L Washington; Elizabeth T Cirulli; Kelly M Schiabor Barrett; Alexandre Bolze; Yunyun Ni; Simon White; Magnus Isaksson; Lavania Sharma; Elissa Levin; William Lee; Joseph J Grzymski; James T Lu Journal: Genet Med Date: 2021-08-13 Impact factor: 8.822