Division of Ethics

Should recipient parents have access to gamete donors' raw genomic data? Clinical, legal, and ethical considerations

Shkedi-Rafid, S., Raz, A., Sabatello, M., Prainsack, B., & Gilbar, R. (2025). Should recipient parents have access to gamete donors’ raw genomic data? Clinical, legal, and ethical considerations. Journal of Assisted Reproduction and Genetics. https://doi.org/10.1007/s10815-025-03666-4
Authors:
Shiri Shkedi-Rafid
Aviad Raz
Maya Sabatello
Barbara Prainsack
Roy Gilbar
Affiliated Authors:
Maya Sabatello
Columbia Affiliation:
Subjects:
Ethical Considerations in Medical Research Participation (OpenAlex Topic)
Global Trends in Infertility and Reproductive Technologies (OpenAlex Topic)
Prenatal Aneuploidy Diagnosis and Screening Techniques (OpenAlex Topic)
Author Keywords:
game donation
genetic testing
informed consent
privacy
raw genomic data
re-contact
Publication Type:
Article
Unique ID:
10.1007/s10815-025-03666-4
PMID:
41015642
DOI:
10.1007/s10815-025-03666-4
Journal:
Journal of Assisted Reproduction and Genetics
Publication Date:
Data Source:
PubMed
Source Link:
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Guidelines for the Creation of Accessible Consent Materials and Procedures: Lessons from Research with Autistic People and People with Intellectual Disability

Beck, K. B., MacKenziem, K. T., Kirby, A. V., McDonald, K., Moura, I., Breitenfeldt, K., Rutenberg, E., Kumar, T., Mancino, J., Sabatello, M., Roth, S., & Nicolaidis, C. (2025). Guidelines for the Creation of Accessible Consent Materials and Procedures: Lessons from Research with Autistic People and People with Intellectual Disability. Autism in Adulthood. https://doi.org/10.1089/aut.2024.0263
Authors:
Kelly B Beck
Kristen T MacKenziem
Anne V Kirby
Katherine McDonald
Ian Moura
Kaitlyn Breitenfeldt
Elizabeth Rutenberg
Tanvi Kumar
Juliet Mancino
Maya Sabatello
Shannon Roth
Christina Nicolaidis
Affiliated Authors:
Maya Sabatello
Columbia Affiliation:
Author Keywords:
autism
human research participant protections
informed consent
intellectual disability
participatory research
research ethics
Grants:
K23MH123934 (NIH – National Institute of Mental Health)
KL2TR001856 (NIH – National Center for Advancing Translational Sciences)
P50MH130957 (NIH – National Institute of Mental Health)
R01HD105655 (NIH – Eunice Kennedy Shriver National Institute of Child Health and Human Development)
R01HD108701 (NIH – Eunice Kennedy Shriver National Institute of Child Health and Human Development)
R01MH121407 (NIH – National Institute of Mental Health)
R21MH112038 (NIH – National Institute of Mental Health)
R34MH111536 (NIH – National Institute of Mental Health)
Publication Type:
Article
Unique ID:
10.1089/aut.2024.0263
PMID:
40979614
DOI:
10.1089/aut.2024.0263
Journal:
Autism in Adulthood: Challenges and Management
Publication Date:
Data Source:
PubMed
Source Link:
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Record Created:

Negative descriptors in electronic health records of patients with diabetes

Sun, T. Y., Baugh, M., Gordon, E. R., Ekanayake, C., Moise, N., Elhadad, N., & Sabatello, M. (2025). Negative descriptors in electronic health records of patients with diabetes. Journal of the American Medical Informatics Association, 32(10), 1589–1597. https://doi.org/10.1093/jamia/ocaf132
Authors:
Tony Y Sun
Mika Baugh
Emily R Gordon
Cameron Ekanayake
Nathalie Moise
Noemie Elhadad
Maya Sabatello
Affiliated Authors:
Tony Y Sun
Emily R Gordon
Cameron Ekanayake
Nathalie Moise
Noemie Elhadad
Maya Sabatello
Columbia Affiliation:
Subjects:
Electronic Health Records (MeSH)
Diabetic Retinopathy (MeSH)
Diabetes Mellitus, Type 2 (MeSH)
Language (MeSH)
Author Keywords:
medical records
bias
negative descriptors
artificial intelligence/machine learning (ai/ml)
disability
Grants:
R01HG010868 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1093/jamia/ocaf132
PMID:
40901706
DOI:
10.1093/jamia/ocaf132
Journal:
Journal of the American Medical Informatics Association
Publication Date:
Data Source:
PubMed
Source Link:
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To do or not to do-genetic testing for autosomal dominant polycystic kidney disease in children and adolescents

Ma, B. M., Milo Rasouly, H., & Sabatello, M. (2025). To do or not to do—genetic testing for autosomal dominant polycystic kidney disease in children and adolescents. Kidney International, 108(1), 17–19. https://doi.org/10.1016/j.kint.2025.05.001
Authors:
Becky Mingyao Ma
Hila Milo Rasouly
Maya Sabatello
Affiliated Authors:
Hila Milo Rasouly
Maya Sabatello
Columbia Affiliation:
Subjects:
Polycystic Kidney, Autosomal Dominant (MeSH)
Genetic Testing (MeSH)
Publication Type:
Article
Unique ID:
10.1016/j.kint.2025.05.001
PMID:
40543935
DOI:
10.1016/j.kint.2025.05.001
Journal:
Kidney International
Publication Date:
Data Source:
PubMed
Source Link:
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Social and Behavioral Genomics: On the Ethics of the Research and Its Downstream Applications

Martschenko, D. O., Lee, S. S.-J., Meyer, M. N., & Parens, E. (2025). Social and Behavioral Genomics: On the Ethics of the Research and Its Downstream Applications. Annual Review of Genomics and Human Genetics. https://doi.org/10.1146/annurev-genom-011224-015733
Authors:
Daphne Oluwaseun Martschenko
Sandra Soo-Jin Lee
Michelle N Meyer
Erik Parens
Affiliated Authors:
Sandra Soo-Jin Lee
Columbia Affiliation:
Publication Type:
Article
Unique ID:
10.1146/annurev-genom-011224-015733
PMID:
40169009
DOI:
10.1146/annurev-genom-011224-015733
Journal:
Annual Review of Genomics and Human Genetics
Publication Date:
Data Source:
PubMed
Source Link:
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A qualitative study of diversity in precision medicine research: The development and stakeholder assessment of a Diversity Decision Map

Shim, J. K., McMahon, C. E., Saco, L., Bentz, M., Foti, N., & Lee, S. S.-J. (2025). A qualitative study of diversity in precision medicine research: The development and stakeholder assessment of a Diversity Decision Map. Journal of Clinical and Translational Science, 9(1). https://doi.org/10.1017/cts.2025.45
Authors:
Janet K. Shim
Caitlin E. McMahon
Michael Bentz
Sandra Soo-Jin Lee
Larissa Saco
Nicole Foti
Affiliated Authors:
Caitlin E. McMahon
Michael Bentz
Sandra Soo-Jin Lee
Columbia Affiliation:
Author Keywords:
research design
diversity
equity
inclusion
precision medicine research
Publication Type:
Article
Unique ID:
10.1017/cts.2025.45
DOI:
10.1017/cts.2025.45
Journal:
Journal of Clinical and Translational Science
Publication Date:
Data Source:
Web of Science
Source Link:
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Intersectionality in a Sociogenomic World: How do Race, Disability, Socioeconomic Status, and Polygenic Prediction Interact to Impact Perceptions of Educational Trajectories?

Matthews, L. J., Martschenko, D. O., V, C. L., & Sabatello, M. (2025). Intersectionality in a Sociogenomic World: How do Race, Disability, Socioeconomic Status, and Polygenic Prediction Interact to Impact Perceptions of Educational Trajectories? Genetics in Medicine, 101368. https://doi.org/10.1016/j.gim.2025.101368
Authors:
Lucas J Matthews
Daphne O Martschenko
Colby Lewis V
Maya Sabatello
Affiliated Authors:
Lucas J Matthews
Colby Lewis V
Maya Sabatello
Columbia Affiliation:
Author Keywords:
class
disability
intersectionality
polygenic score
race
academic achievement
adolescent
adult
article
controlled study
education
education program
educational status
female
genetic risk score
human
male
social status
wheelchair user
ancestry group
disabled person
genetics
genomics
middle aged
multifactorial inheritance
psychology
questionnaire
social class
sociogenomics
united states
humans
persons with disabilities
racial groups
social genomics
surveys and questionnaires
Publication Type:
Article
Unique ID:
10.1016/j.gim.2025.101368
PMID:
39902637
DOI:
10.1016/j.gim.2025.101368
Journal:
Genetics in Medicine
Publication Date:
Data Source:
PubMed
Source Link:
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A conjunctural analysis of the origins of 'embedded ELSI' in U.S. genomic medicine

Karabin, J., Adsit-Morris, C., Lee, S. S.-J., Fullerton, S. M., Cho, M. K., & Reardon, J. (2024). A conjunctural analysis of the origins of ‘embedded ELSI’ in U.S. genomic medicine. Journal of Responsible Innovation, 11(1). https://doi.org/10.1080/23299460.2024.2413698
Authors:
James Karabin
Jenny Reardon
Chessa Adsit-Morris
Sandra Soo-Jin Lee
Stephanie M. Fullerton
Mildred K. Cho
Affiliated Authors:
Sandra Soo-Jin Lee
Columbia Affiliation:
Author Keywords:
embedded ethics
elsi
genomics
conjuncture
integration
justice
Publication Type:
Article
Unique ID:
10.1080/23299460.2024.2413698
DOI:
10.1080/23299460.2024.2413698
Journal:
Journal of Responsible Innovation
Publication Date:
Data Source:
Web of Science
Source Link:
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Nephrologists' Views on a Workflow for Returning Genetic Results to Research Participants

Weiss, R., Milo Rasouly, H., Marasa, M., Fernandez, H., Lin, F., & Sabatello, M. (2024). Nephrologists’ Views on a Workflow for Returning Genetic Results to Research Participants. Kidney International Reports, 9(11), 3278–3289. https://doi.org/10.1016/j.ekir.2024.08.026
Authors:
Robyn Weiss
Hila Milo Rasouly
Maddalena Marasa
Hilda Fernandez
Fangming Lin
Maya Sabatello
Affiliated Authors:
Hila Milo Rasouly
Maddalena Marasa
Hilda Fernandez
Fangming Lin
Maya Sabatello
Columbia Affiliation:
Author Keywords:
barriers
clia
facilitators
genetic results
kidney diseases
Publication Type:
Article
Unique ID:
10.1016/j.ekir.2024.08.026
PMID:
39534211
DOI:
10.1016/j.ekir.2024.08.026
Journal:
Kidney International Reports
Publication Date:
Data Source:
PubMed
Source Link:
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Pediatric nephrologists' perspectives and clinical practices related to genetic testing and education

Fernandez, H. E., Lipton, M., Balderes, O., Lin, F., Marasa, M., Milo Rasouly, H., & Sabatello, M. (2024). Pediatric nephrologists’ perspectives and clinical practices related to genetic testing and education. Pediatric Nephrology. https://doi.org/10.1007/s00467-024-06539-7
Authors:
Hilda E Fernandez
Marissa Lipton
Olivia Balderes
Fangming Lin
Maddalena Marasa
Hila Milo Rasouly
Maya Sabatello
Affiliated Authors:
Hilda E Fernandez
Olivia Balderes
Fangming Lin
Maddalena Marasa
Hila Milo Rasouly
Maya Sabatello
Columbia Affiliation:
Author Keywords:
education
genetic testing
pediatric nephrology
return of results
stata 15.1.
article
child
clinical practice
female
genetic counseling
genetic screening
health care facility
health survey
human
human experiment
kidney disease
kidney graft
likert scale
male
nephrologist
nephrology
patient referral
prognosis
research
teaching
treatment planning
united states
adult
health personnel attitude
pediatrics
questionnaire
attitude of health personnel
humans
nephrologists
practice patterns, physicians'
referral and consultation
surveys and questionnaires
Grants:
U01DK100876 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
K01DK132495 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
Publication Type:
Article
Unique ID:
10.1007/s00467-024-06539-7
PMID:
39382664
DOI:
10.1007/s00467-024-06539-7
Journal:
Pediatric Nephrology
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
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Record Created:

Negative results from DNA-based population screening for adult-onset diseases: the recipients' experience

Russo, F., Chatterjee, D., DeMaria, N., Florido, M. E., Marasa, M., Sabatello, M., Wynn, J., & Milo Rasouly, H. (2024). Negative results from DNA-based population screening for adult-onset diseases: the recipients’ experience. Journal of Community Genetics. https://doi.org/10.1007/s12687-024-00736-5
Authors:
Felicia Russo
Debanjana Chatterjee
Natalia DeMaria
Michelle E Florido
Maddalena Marasa
Maya Sabatello
Julia Wynn
Hila Milo Rasouly
Affiliated Authors:
Felicia Russo
Debanjana Chatterjee
Natalia DeMaria
Michelle E Florido
Maddalena Marasa
Maya Sabatello
Julia Wynn
Hila Milo Rasouly
Columbia Affiliation:
Author Keywords:
communication
comprehension
dna-based population screening
education
negative results
Grants:
U01HG008680 (NIH – National Human Genome Research Institute)
K01DK132495 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
Publication Type:
Article
Unique ID:
10.1007/s12687-024-00736-5
PMID:
39373866
DOI:
10.1007/s12687-024-00736-5
Journal:
Journal of Community Genetics
Publication Date:
Data Source:
PubMed
Source Link:
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Record Created:

Understanding the Gap: A Cross-Sectional Survey of ELSI Scholars' Dissemination Practices and Translation Goals

Dolan, D. D., Lee, R. H., Cho, M. K., & Lee, S. S.-J. (2024). Understanding the Gap: A Cross-Sectional Survey of ELSI Scholars’ Dissemination Practices and Translation Goals. AJOB Empirical Bioethics, 15(2), 147–153. https://doi.org/10.1080/23294515.2024.2355898
Authors:
Deanne Dunbar Dolan
Rachel H Lee
Mildred K Cho
Sandra Soo-Jin Lee
Affiliated Authors:
Sandra Soo-Jin Lee
Columbia Affiliation:
Subjects:
Information Dissemination (MeSH)
Research Personnel (MeSH)
Translational Research, Biomedical (MeSH)
Author Keywords:
cera
elsi
knowledge brokering
research results dissemination
Grants:
U24HG010733 (NIH – National Human Genome Research Institute)
U13HG010830 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1080/23294515.2024.2355898
PMID:
38805390
DOI:
10.1080/23294515.2024.2355898
Journal:
AJOB Empirical Bioethics
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record

Record Created:

Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network

Lewis, A. C. F., Chisholm, R. L., Connolly, J. J., Esplin, E. D., Glessner, J., Gordon, A., Green, R. C., Hakonarson, H., Harr, M., Holm, I. A., Jarvik, G. P., Karlson, E., Kenny, E. E., Kottyan, L., Lennon, N., Linder, J. E., Luo, Y., Martin, L. J., Perez, E., … Fullerton, S. M. (2024). Managing differential performance of polygenic risk scores across groups: Real-world experience of the eMERGE Network. The American Journal of Human Genetics, 111(6), 999–1005. https://doi.org/10.1016/j.ajhg.2024.04.005
Authors:
Anna C F Lewis
Rex L Chisholm
John J Connolly
Edward D Esplin
Joe Glessner
Adam Gordon
Robert C Green
Hakon Hakonarson
Margaret Harr
Ingrid A Holm
Gail P Jarvik
Elizabeth Karlson
Eimear E Kenny
Leah Kottyan
Niall Lennon
Jodell E Linder
Yuan Luo
Lisa J Martin
Emma Perez
Megan J Puckelwartz
Laura J Rasmussen-Torvik
Maya Sabatello
Richard R Sharp
Jordan W Smoller
Rene Sterling
Shannon Terek
Wei-Qi Wei
Stephanie M Fullerton
Affiliated Authors:
Maya Sabatello
Columbia Affiliation:
Subjects:
Multifactorial Inheritance (MeSH)
Genetic Predisposition to Disease (MeSH)
Grants:
UL1TR002541 (NIH – National Center for Advancing Translational Sciences)
U01HG006379 (NIH – National Human Genome Research Institute)
U01HG008685 (NIH – National Human Genome Research Institute)
U01HG011172 (NIH – National Human Genome Research Institute)
U01HG008680 (NIH – National Human Genome Research Institute)
U01HG008657 (NIH – National Human Genome Research Institute)
U01HG011167 (NIH – National Human Genome Research Institute)
U01HG011175 (NIH – National Human Genome Research Institute)
U01HG011169 (NIH – National Human Genome Research Institute)
U01HG011166 (NIH – National Human Genome Research Institute)
U01HG011176 (NIH – National Human Genome Research Institute)
U01HG011181 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1016/j.ajhg.2024.04.005
PMID:
38688278
DOI:
10.1016/j.ajhg.2024.04.005
Journal:
American Journal of Human Genetics
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
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Record Created:

Return of polygenic risk scores in research: Stakeholders' views on the eMERGE-IV study

Sabatello, M., Bakken, S., Chung, W. K., Cohn, E., Crew, K. D., Kiryluk, K., Kukafka, R., Weng, C., & Appelbaum, P. S. (2024). Return of polygenic risk scores in research: Stakeholders’ views on the eMERGE-IV study. Human Genetics and Genomics Advances, 5(2), 100281. https://doi.org/10.1016/j.xhgg.2024.100281
Authors:
Maya Sabatello
Suzanne Bakken
Wendy K Chung
Elizabeth Cohn
Katherine D Crew
Krzysztof Kiryluk
Rita Kukafka
Chunhua Weng
Paul S Appelbaum
Affiliated Authors:
Maya Sabatello
Suzanne Bakken
Katherine D Crew
Krzysztof Kiryluk
Rita Kukafka
Chunhua Weng
Paul S Appelbaum
Columbia Affiliation:
Subjects:
Genetic Risk Score (MeSH)
Electronic Health Records (MeSH)
Author Keywords:
barriers
chronic diseases
equity
institutional review board
irb
polygenic risk scores, prs
return of results
translational genomic efforts
Grants:
P50HD105351 (NIH – Eunice Kennedy Shriver National Institute of Child Health & Human Development)
U01HG008680 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1016/j.xhgg.2024.100281
PMID:
38414240
DOI:
10.1016/j.xhgg.2024.100281
Journal:
Human Genetics and Genomics Advances
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
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Record Created:

Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study

Casillan, A., Florido, M. E., Galarza-Cornejo, J., Bakken, S., Lynch, J. A., Chung, W. K., Mittendorf, K. F., Berner, E. S., Connolly, J. J., Weng, C., Holm, I. A., Khan, A., Kiryluk, K., Limdi, N. A., Petukhova, L., Sabatello, M., & Wynn, J. (2023). Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study. Journal of the American Medical Informatics Association, 31(2), 306–316. https://doi.org/10.1093/jamia/ocad207
Authors:
Aimiel Casillan
Michelle E Florido
Jamie Galarza-Cornejo
Suzanne Bakken
John A Lynch
Wendy K Chung
Kathleen F Mittendorf
Eta S Berner
John J Connolly
Chunhua Weng
Ingrid A Holm
Atlas Khan
Krzysztof Kiryluk
Nita A Limdi
Lynn Petukhova
Maya Sabatello
Julia Wynn
Affiliated Authors:
Aimiel Casillan
Michelle E Florido
Jamie Galarza-Cornejo
Suzanne Bakken
Wendy K Chung
Chunhua Weng
Atlas Khan
Krzysztof Kiryluk
Lynn Petukhova
Maya Sabatello
Julia Wynn
Columbia Affiliation:
Subjects:
Data Visualization (MeSH)
Electronic Health Records (MeSH)
Author Keywords:
genomic literacy
health literacy
infographics and visualization
participatory design
Grants:
UL1TR003096 (NIH – National Center for Advancing Translational Sciences)
UL1TR001873 (NIH – National Center for Advancing Translational Sciences)
U01HG011167 (NIH – National Human Genome Research Institute)
U01HG011172 (NIH – National Human Genome Research Institute)
U01HG008680 (NIH – National Human Genome Research Institute)
U01HG011175 (NIH – National Human Genome Research Institute)
K01AR075111 (NIH – National Institute of Arthritis and Musculoskeletal and Skin Diseases)
Publication Type:
Article
Unique ID:
10.1093/jamia/ocad207
PMID:
37860921
DOI:
10.1093/jamia/ocad207
Journal:
Journal of the American Medical Informatics Association
Publication Date:
Data Source:
PubMed
Source Link:
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Record Created:

Rethinking Benefit and Responsibility in the Context of Diversity: Perspectives from the Front Lines of Precision Medicine Research

Vasquez, E. E., Foti, N., McMahon, C. E., Jeske, M., Bentz, M., Fullerton, S., Shim, J. K., & Lee, S. S.-J. (2023). Rethinking Benefit and Responsibility in the Context of Diversity: Perspectives from the Front Lines of Precision Medicine Research. Public Health Genomics, 103–112. Portico. https://doi.org/10.1159/000531656
Authors:
Emily E Vasquez
Nicole Foti
Caitlin E McMahon
Melanie Jeske
Michael Bentz
Stephanie Fullerton
Janet K Shim
Sandra Soo-Jin Lee
Affiliated Authors:
Caitlin E McMahon
Michael Bentz
Sandra Soo-Jin Lee
Columbia Affiliation:
Subjects:
Precision Medicine (MeSH)
Ethics, Research (MeSH)
Author Keywords:
benefit
bioethics
diversity and inclusion
precision medicine
research justice
Grants:
R01HG010330 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1159/000531656
PMID:
37442104
DOI:
10.1159/000531656
Journal:
Public Health Genomics
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record

Record Created:

The roots of (in)equity in precision medicine: gaps in the discourse

Green, S., Prainsack, B., & Sabatello, M. (2023). The Roots of (in)Equity in Precision Medicine: Gaps in the Discourse. Personalized Medicine, 21(1), 5–9. https://doi.org/10.2217/pme-2023-0097
Authors:
Sara Green
Barbara Prainsack
Maya Sabatello
Affiliated Authors:
Maya Sabatello
Columbia Affiliation:
Subjects:
Precision Medicine (MeSH)
Healthcare Disparities (MeSH)
Author Keywords:
drug pricing
equity
medical matthew effect
personalized medicine
precision medicine
prioritization of healthcare resources
structural injustice
treatment costs
Grants:
R01HG010868 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.2217/pme-2023-0097
PMID:
38088178
DOI:
10.2217/pme-2023-0097
Journal:
Personalized Medicine
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record

Record Created:

Interrogating the Value of Return of Results for Diverse Populations: Perspectives from Precision Medicine Researchers

McMahon, C. E., Foti, N., Jeske, M., Britton, W. R., Fullerton, S. M., Shim, J. K., & Lee, S. S.-J. (2023). Interrogating the Value of Return of Results for Diverse Populations: Perspectives from Precision Medicine Researchers. AJOB Empirical Bioethics, 15(2), 108–119. https://doi.org/10.1080/23294515.2023.2279965
Authors:
Caitlin E McMahon
Nicole Foti
Melanie Jeske
William R Britton
Stephanie M Fullerton
Janet K Shim
Sandra Soo-Jin Lee
Affiliated Authors:
Caitlin E McMahon
William R Britton
Sandra Soo-Jin Lee
Columbia Affiliation:
Subjects:
Precision Medicine (MeSH)
Research Personnel (MeSH)
Author Keywords:
return of results
diversity
health equity
precision medicine
qualitative research
research participation
Grants:
R01HG010330 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1080/23294515.2023.2279965
PMID:
37962912
DOI:
10.1080/23294515.2023.2279965
Journal:
AJOB Empirical Bioethics
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record

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How do experts in psychiatric genetics view the clinical utility of polygenic risk scores for schizophrenia?

Moorthy, T., Nguyen, H., Chen, Y., Austin, J., Smoller, J. W., Hercher, L., & Sabatello, M. (2023). How do experts in psychiatric genetics view the clinical utility of polygenic risk scores for schizophrenia? American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 192(7–8), 161–170. Portico. https://doi.org/10.1002/ajmg.b.32939
Authors:
Tiahna Moorthy
Huyen Nguyen
Ying Chen
Jehannine Austin
Jordan W Smoller
Laura Hercher
Maya Sabatello
Affiliated Authors:
Maya Sabatello
Columbia Affiliation:
Subjects:
Schizophrenia (MeSH)
Heredity (MeSH)
Author Keywords:
clinical utility
ethics
knowledge
polygenic risk scores
schizophrenia
Grants:
P50HG007257 (NIH – National Human Genome Research Institute)
RM1HG007257 (NIH – National Human Genome Research Institute)
K01HG008653 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1002/ajmg.b.32939
PMID:
37158703
DOI:
10.1002/ajmg.b.32939
Journal:
American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics
Publication Date:
Data Source:
PubMed
Source Link:
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Record Created:

Community Engagement in Precision Medicine Research: Organizational Practices and Their Impacts for Equity

Shim, J. K., Foti, N., Vasquez, E., Fullerton, S. M., Bentz, M., Jeske, M., & Lee, S. S.-J. (2023). Community Engagement in Precision Medicine Research: Organizational Practices and Their Impacts for Equity. AJOB Empirical Bioethics, 14(4), 185–196. https://doi.org/10.1080/23294515.2023.2201478
Authors:
Janet K Shim
Nicole Foti
Emily Vasquez
Stephanie M Fullerton
Michael Bentz
Melanie Jeske
Sandra Soo-Jin Lee
Affiliated Authors:
Michael Bentz
Sandra Soo-Jin Lee
Columbia Affiliation:
Subjects:
Community Participation (MeSH)
Biomedical Research (MeSH)
Author Keywords:
community engagement
bioethics
diversity and inclusion
precision medicine
qualitative research
research participation
Grants:
R01HG010330 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1080/23294515.2023.2201478
PMID:
37126431
DOI:
10.1080/23294515.2023.2201478
Journal:
AJOB Empirical Bioethics
Publication Date:
Data Source:
PubMed
Source Link:
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Record Created:

Underrepresentation of blind and deaf participants in the All of Us Research Program

Lewis V, C., Huebner, J., Hripcsak, G., & Sabatello, M. (2023). Underrepresentation of blind and deaf participants in the All of Us Research Program. Nature Medicine, 29(11), 2742–2747. https://doi.org/10.1038/s41591-023-02607-x
Authors:
Colby Lewis V
Jack Huebner
George Hripcsak
Maya Sabatello
Affiliated Authors:
Colby Lewis V
Jack Huebner
George Hripcsak
Maya Sabatello
Columbia Affiliation:
Subjects:
Population Health (MeSH)
Blindness (MeSH)
Deafness (MeSH)
Health Disparate Minority and Vulnerable Populations (MeSH)
Social Determinants of Health (MeSH)
Grants:
R01HG010868 (NIH – National Human Genome Research Institute)
OT2OD026552 (NIH – Office of the Director, National Institutes of Health)
OT2OD026555 (NIH – Office of the Director, National Institutes of Health)
OT2OD023206 (NIH – Office of the Director, National Institutes of Health)
U24OD023176 (NIH – Office of the Director, National Institutes of Health)
OT2OD026557 (NIH – Office of the Director, National Institutes of Health)
U24OD023121 (NIH – Office of the Director, National Institutes of Health)
OT2OD026549 (NIH – Office of the Director, National Institutes of Health)
OT2OD025276 (NIH – Office of the Director, National Institutes of Health)
OT2OD026553 (NIH – Office of the Director, National Institutes of Health)
OT2OD026556 (NIH – Office of the Director, National Institutes of Health)
OT2OD026550 (NIH – Office of the Director, National Institutes of Health)
U2COD023196 (NIH – Office of the Director, National Institutes of Health)
OT2OD026554 (NIH – Office of the Director, National Institutes of Health)
OT2OD025315 (NIH – Office of the Director, National Institutes of Health)
OT2OD025337 (NIH – Office of the Director, National Institutes of Health)
OT2OD023205 (NIH – Office of the Director, National Institutes of Health)
OT2OD025277 (NIH – Office of the Director, National Institutes of Health)
OT2OD026551 (NIH – Office of the Director, National Institutes of Health)
U24OD023163 (NIH – Office of the Director, National Institutes of Health)
OT2OD026548 (NIH – Office of the Director, National Institutes of Health)
Publication Type:
Article
Unique ID:
10.1038/s41591-023-02607-x
PMID:
37884626
DOI:
10.1038/s41591-023-02607-x
Journal:
Nature Medicine
Publication Date:
Data Source:
PubMed
Source Link:
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Record Created:

Project Inclusive Genetics: Protecting reproductive autonomy from bias via prenatal patient-centered counseling

Jungels, A., Demers, L., Ford, E., Stevens, B. K., Sabatello, M., & Dasgupta, S. (2023). Project Inclusive Genetics: Protecting reproductive autonomy from bias via prenatal patient-centered counseling. Human Genetics and Genomics Advances, 4(4), 100228. https://doi.org/10.1016/j.xhgg.2023.100228
Authors:
Apolline Jungels
Lindsay Demers
Eric Ford
Blair K Stevens
Maya Sabatello
Shoumita Dasgupta
Affiliated Authors:
Maya Sabatello
Columbia Affiliation:
Subjects:
Reproduction (MeSH)
Intellectual Disability (MeSH)
Author Keywords:
bias
clinician education
disability
genetic counseling
patient-centered counseling
prenatal genetic testing
Grants:
K01HG008653 (NIH – National Human Genome Research Institute)
R01HG010868 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1016/j.xhgg.2023.100228
PMID:
37646012
DOI:
10.1016/j.xhgg.2023.100228
Journal:
Human Genetics and Genomics Advances
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record

Record Created:

Conflating race and ancestry: Tracing decision points about population descriptors over the precision medicine research life course

Bentz, M., Saperstein, A., Fullerton, S. M., Shim, J. K., & Lee, S. S.-J. (2024). Conflating race and ancestry: Tracing decision points about population descriptors over the precision medicine research life course. Human Genetics and Genomics Advances, 5(1), 100243. https://doi.org/10.1016/j.xhgg.2023.100243
Authors:
Michael Bentz
Aliya Saperstein
Stephanie M Fullerton
Janet K Shim
Sandra Soo-Jin Lee
Affiliated Authors:
Michael Bentz
Sandra Soo-Jin Lee
Columbia Affiliation:
Subjects:
Precision Medicine (MeSH)
Life Change Events (MeSH)
Author Keywords:
genetic ancestry
population descriptors
precision medicine
race
research
Grants:
R01HG010330 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1016/j.xhgg.2023.100243
PMID:
37771152
DOI:
10.1016/j.xhgg.2023.100243
Journal:
Human Genetics and Genomics Advances
Publication Date:
Data Source:
PubMed
Source Link:
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View Scopus Record

Record Created:

Social and Behavioral Genomics: What Does It Mean for Pediatrics?

Martschenko, D. O., Matthews, L. J., & Sabatello, M. (2024). Social and Behavioral Genomics: What Does It Mean for Pediatrics? The Journal of Pediatrics, 264, 113735. https://doi.org/10.1016/j.jpeds.2023.113735
Authors:
Daphne Oluwaseun Martschenko
Lucas J Matthews
Maya Sabatello
Affiliated Authors:
Lucas J Matthews
Maya Sabatello
Columbia Affiliation:
Subjects:
Genomics (MeSH)
Behavioral Medicine (MeSH)
Grants:
R01HG010868 (NIH – National Human Genome Research Institute)
K01HG011683 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1016/j.jpeds.2023.113735
PMID:
37722558
DOI:
10.1016/j.jpeds.2023.113735
Journal:
Journal of Pediatrics
Publication Date:
Data Source:
PubMed
Source Link:
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Record Created:

Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores

Connolly, J. J., Berner, E. S., Smith, M., Levy, S., Terek, S., Harr, M., Karavite, D., Suckiel, S., Holm, I. A., Dufendach, K., Nelson, C., Khan, A., Chisholm, R. L., Allworth, A., Wei, W.-Q., Bland, H. T., Clayton, E. W., Soper, E. R., Linder, J. E., … Sabatello, M. (2023). Education and electronic medical records and genomics network, challenges, and lessons learned from a large-scale clinical trial using polygenic risk scores. Genetics in Medicine, 25(9), 100906. https://doi.org/10.1016/j.gim.2023.100906
Authors:
John J Connolly
Eta S Berner
Maureen Smith
Samuel Levy
Shannon Terek
Margaret Harr
Dean Karavite
Sabrina Suckiel
Ingrid A Holm
Kevin Dufendach
Catrina Nelson
Atlas Khan
Rex L Chisholm
Aimee Allworth
Wei-Qi Wei
Harris T Bland
Ellen Wright Clayton
Emily R Soper
Jodell E Linder
Nita A Limdi
Alexandra Miller
Scott Nigbur
Hana Bangash
Marwan Hamed
Alborz Sherafati
Anna C F Lewis
Emma Perez
Lori A Orlando
Tejinder K Rakhra-Burris
Mustafa Al-Dulaimi
Selma Cifric
Courtney Lynam Scherr
Julia Wynn
Hakon Hakonarson
Maya Sabatello
Affiliated Authors:
Atlas Khan
Julia Wynn
Maya Sabatello
Columbia Affiliation:
Subjects:
Electronic Health Records (MeSH)
Ethnicity (MeSH)
Author Keywords:
education
genome-informed risk report
prs
polygenic risk score
emerge
Grants:
U01HG011166 (NIH – National Human Genome Research Institute)
U01HG008657 (NIH – National Human Genome Research Institute)
U01HG011175 (NIH – National Human Genome Research Institute)
U01HG008680 (NIH – National Human Genome Research Institute)
U01HG011176 (NIH – National Human Genome Research Institute)
U01HG006379 (NIH – National Human Genome Research Institute)
U01HG011181 (NIH – National Human Genome Research Institute)
U01HG008685 (NIH – National Human Genome Research Institute)
U01HG011172 (NIH – National Human Genome Research Institute)
U01HG011169 (NIH – National Human Genome Research Institute)
U01HG011167 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1016/j.gim.2023.100906
PMID:
37246632
DOI:
10.1016/j.gim.2023.100906
Journal:
Genetics in Medicine
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record

Record Created:

Precision medicine and the problem of structural injustice

Green, S., Prainsack, B., & Sabatello, M. (2023). Precision medicine and the problem of structural injustice. Medicine, Health Care and Philosophy, 26(3), 433–450. https://doi.org/10.1007/s11019-023-10158-8
Authors:
Sara Green
Barbara Prainsack
Maya Sabatello
Affiliated Authors:
Maya Sabatello
Columbia Affiliation:
Subjects:
Precision Medicine (MeSH)
Delivery of Health Care (MeSH)
Author Keywords:
equity
healthcare model
medical matthew effects
personalized medicine
precision medicine
structural injustice
Grants:
R01HG010868 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1007/s11019-023-10158-8
PMID:
37231234
DOI:
10.1007/s11019-023-10158-8
Journal:
Medicine, Health Care and Philosophy
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record

Record Created:

Studying the impact of translational genomic research: Lessons from eMERGE

Clayton, E. W., Smith, M. E., Anderson, K. C., Chung, W. K., Connolly, J. J., Fullerton, S. M., McGowan, M. L., Peterson, J. F., Prows, C. A., Sabatello, M., & Holm, I. A. (2023). Studying the impact of translational genomic research: Lessons from eMERGE. The American Journal of Human Genetics, 110(7), 1021–1033. https://doi.org/10.1016/j.ajhg.2023.05.011
Authors:
Ellen Wright Clayton
Maureen E Smith
Katherine C Anderson
Wendy K Chung
John J Connolly
Stephanie M Fullerton
Michelle L McGowan
Josh F Peterson
Cynthia A Prows
Maya Sabatello
Ingrid A Holm
Affiliated Authors:
Wendy K Chung
Maya Sabatello
Columbia Affiliation:
Subjects:
Electronic Health Records (MeSH)
Genomics (MeSH)
Author Keywords:
ethics
genomics
research design
return of results
translational research
Grants:
U01HG011169 (NIH – National Human Genome Research Institute)
U01HG011166 (NIH – National Human Genome Research Institute)
U01HG006379 (NIH – National Human Genome Research Institute)
U01HG008680 (NIH – National Human Genome Research Institute)
U01HG008685 (NIH – National Human Genome Research Institute)
U01HG011172 (NIH – National Human Genome Research Institute)
U01HG011167 (NIH – National Human Genome Research Institute)
U01HG008657 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1016/j.ajhg.2023.05.011
PMID:
37343562
DOI:
10.1016/j.ajhg.2023.05.011
Journal:
American Journal of Human Genetics
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record

Record Created:

Individualized interventions for rare genetic conditions and the research-treatment spectrum: Stakeholder perspectives

Lee, S. S.-J., Caruncho, M., Chung, W. K., Johnston, J., Tabb, K., & Appelbaum, P. S. (2023). Individualized interventions for rare genetic conditions and the research-treatment spectrum: Stakeholder perspectives. Genetics in Medicine, 25(6), 100832. https://doi.org/10.1016/j.gim.2023.100832
Authors:
Sandra Soo-Jin Lee
Mikaella Caruncho
Wendy K Chung
Josephine Johnston
Kathryn Tabb
Paul S Appelbaum
Affiliated Authors:
Sandra Soo-Jin Lee
Mikaella Caruncho
Wendy K Chung
Paul S Appelbaum
Columbia Affiliation:
Subjects:
Parents (MeSH)
Rare Diseases (MeSH)
Author Keywords:
ethics
gene therapy
pediatrics
rare genetic disease
regulatory governance
Grants:
RM1HG007257 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1016/j.gim.2023.100832
PMID:
36964709
DOI:
10.1016/j.gim.2023.100832
Journal:
Genetics in Medicine
Publication Date:
Data Source:
PubMed
Source Link:
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View Scopus Record

Record Created:

The effect of genetic education on the referral of patients to genetic evaluation: Findings from a national survey of nephrologists

Rasouly, H. M., Balderes, O., Marasa, M., Fernandez, H., Lipton, M., Lin, F., Gharavi, A. G., & Sabatello, M. (2023). The effect of genetic education on the referral of patients to genetic evaluation: Findings from a national survey of nephrologists. Genetics in Medicine, 25(5), 100814. https://doi.org/10.1016/j.gim.2023.100814
Authors:
Hila Milo Rasouly
Olivia Balderes
Maddalena Marasa
Hilda Fernandez
Marissa Lipton
Fangming Lin
Ali G Gharavi
Maya Sabatello
Affiliated Authors:
Hila Milo Rasouly
Olivia Balderes
Maddalena Marasa
Hilda Fernandez
Marissa Lipton
Fangming Lin
Ali G Gharavi
Maya Sabatello
Columbia Affiliation:
Subjects:
Nephrology (MeSH)
Kidney Diseases (MeSH)
Author Keywords:
education
genetic knowledge
genomic medicine
nephrology
patient referral
Grants:
K01DK132495 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
U01DK100876 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
Publication Type:
Article
Unique ID:
10.1016/j.gim.2023.100814
PMID:
36789889
DOI:
10.1016/j.gim.2023.100814
Journal:
Genetics in Medicine
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
View Scopus Record

Record Created:

People with disability and privacy in precision medicine research: what’s at stake?

Kapur, S. L., & Sabatello, M. (2023). People with disability and privacy in precision medicine research: what’s at stake? Trends in Genetics, 39(5), 335–337. https://doi.org/10.1016/j.tig.2023.01.001
Authors:
Supriya Lal Kapur
Maya Sabatello
Affiliated Authors:
Supriya Lal Kapur
Maya Sabatello
Columbia Affiliation:
Subjects:
Precision Medicine (MeSH)
Disabled Persons (MeSH)
Epidemiology and Implications of Multimorbidity in Healthcare (OpenAlex Topic)
Frailty in Older Adults and Geriatric Care (OpenAlex Topic)
Strategies to Reduce Low-Value Health Care Services (OpenAlex Topic)
Author Keywords:
health disparities population
people with disabilities
precision medicine research
privacy risks
Grants:
R01HG010868 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1016/j.tig.2023.01.001
PMID:
36707316
DOI:
10.1016/j.tig.2023.01.001
Journal:
Trends in Genetics
Publication Date:
Data Source:
OpenAlex
Source Link:
View OpenAlex Record
View PubMed Record

Record Created:

Returning integrated genomic risk and clinical recommendations: The eMERGE study

Linder, J. E., Allworth, A., Bland, H. T., Caraballo, P. J., Chisholm, R. L., Clayton, E. W., Crosslin, D. R., Dikilitas, O., DiVietro, A., Esplin, E. D., Forman, S., Freimuth, R. R., Gordon, A. S., Green, R., Harden, M. V., Holm, I. A., Jarvik, G. P., Karlson, E. W., Labrecque, S., … Peterson, J. F. (2023). Returning integrated genomic risk and clinical recommendations: The eMERGE study. Genetics in Medicine, 25(4), 100006. https://doi.org/10.1016/j.gim.2023.100006
Authors:
Jodell E. Linder
Aimee Allworth
Harris T. Bland
Pedro J. Caraballo
Rex L. Chisholm
Ellen Wright Clayton
David R. Crosslin
Ozan Dikilitas
Alanna J. DiVietro
Edward D. Esplin
S F Forman
Robert R Freimuth
Melissa L. Habrat
Richard Green
Maegan Harden
Ingrid A. Holm
Gail P. Jarvik
Elizabeth W. Karlson
Sofia Labrecque
Niall J. Lennon
Nita A. Limdi
Kathleen F. Mittendorf
Alba Gutiérrez‐Sacristán
Lori A. Orlando
Cynthia A. Prows
Luke V. Rasmussen
Laura J. Rasmussen‐Torvik
Robb Rowley
Konrad Teodor Sawicki
Tara Schmidlen
Shannon Terek
David L. Veenstra
Digna R. Velez Edwards
Devin Absher
Noura S. Abul‐Husn
Jorge Alsip
Hana Bangash
Mark Beasley
Jennifer E. Below
Eta S. Berner
James Booth
Wendy K. Chung
James J. Cimino
John J. Connolly
Patrick Davis
Beth Devine
Stephanie M. Fullerton
Candace Guiducci
Melissa L. Habrat
Heather S. Hain
Hákon Hákonarson
Melissa L. Habrat
Eden Haverfield
Valentina Hernandez
Christin Hoell
Martha Horike‐Pyne
George Hripcsak
Marguerite R. Irvin
Christopher Kachulis
Dean Karavite
Kenny Nguyen
Atlas Khan
Krzysztof Kiryluk
Bruce R. Korf
Leah C. Kottyan
Iftikhar J. Kullo
Katie Larkin
Cong Liu
Edyta Małolepsza
Teri A. Manolio
Thomas May
Elizabeth M. McNally
Frank Mentch
Alexandra Miller
Melissa L. Habrat
Melissa L. Habrat
Brenda Mutai
Naveen Muthu
Bahram Namjou
Emma Perez
Megan J. Puckelwartz
Tejinder Rakhra-Burris
Dan M. Roden
Elisabeth A. Rosenthal
Seyedmohammad Saadatagah
Maya Sabatello
Dan Schaid
Baergen I. Schultz
Lynn Seabolt
Gabriel Q. Shaibi
Richard R. Sharp
Mingjian Shi
Johanna L. Smith
Jordan W Smoller
Rene Sterling
Sabrina A. Suckiel
Jeritt G. Thayer
Hemant K. Tiwari
Susan Brown Trinidad
Theresa L. Walunas
Affiliated Authors:
Wendy K. Chung
George Hripcsak
Atlas Khan
Krzysztof Kiryluk
Cong Liu
Maya Sabatello
Columbia Affiliation:
Subjects:
Genome (MeSH)
Genomics (MeSH)
Genetic Research on BRCA Mutations and Cancer Risk (OpenAlex Topic)
Standards and Guidelines for Genetic Variant Interpretation (OpenAlex Topic)
Nutritional Genomics: Personalized Nutrition and Health (OpenAlex Topic)
Author Keywords:
common variants
family history
genotyping
monogenic risks
polygenic risk scores
Grants:
K12HD043483 (NIH – Eunice Kennedy Shriver National Institute of Child Health & Human Development)
UG1CA189974 (NIH – National Cancer Institute)
UL1TR001873 (NIH – National Center for Advancing Translational Sciences)
UL1TR002319 (NIH – National Center for Advancing Translational Sciences)
R01HL128075 (NIH – National Heart, Lung, and Blood Institute)
U01HG006379 (NIH – National Human Genome Research Institute)
U01HG011172 (NIH – National Human Genome Research Institute)
U01HG011166 (NIH – National Human Genome Research Institute)
U01HG011181 (NIH – National Human Genome Research Institute)
U01HG011175 (NIH – National Human Genome Research Institute)
U01HG011167 (NIH – National Human Genome Research Institute)
U01HG011169 (NIH – National Human Genome Research Institute)
U01HG008657 (NIH – National Human Genome Research Institute)
U01HG008685 (NIH – National Human Genome Research Institute)
U01HG008680 (NIH – National Human Genome Research Institute)
U01HG011176 (NIH – National Human Genome Research Institute)
K12AR084232 (NIH – National Institute of Arthritis and Musculoskeletal and Skin Diseases)
R01DK090372 (NIH – National Institute of Diabetes and Digestive and Kidney Diseases)
Publication Type:
Article
Unique ID:
10.1016/j.gim.2023.100006
PMID:
36621880
DOI:
10.1016/j.gim.2023.100006
Journal:
Genetics in Medicine
Publication Date:
Data Source:
OpenAlex
Source Link:
View OpenAlex Record
View PubMed Record
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Record Created:

Trustworthiness matters: Building equitable and ethical science

Reardon, J., Lee, S. S.-J., Goering, S., Fullerton, S. M., Cho, M. K., Panofsky, A., & Hammonds, E. M. (2023). Trustworthiness matters: Building equitable and ethical science. Cell, 186(5), 894–898. https://doi.org/10.1016/j.cell.2023.01.008
Authors:
Jenny Reardon
Sandra Soo-Jin Lee
Sara Goering
Stephanie M Fullerton
Mildred K Cho
Aaron Panofsky
Evelynn M Hammonds
Affiliated Authors:
Sandra Soo-Jin Lee
Columbia Affiliation:
Subjects:
Technology (MeSH)
Leadership (MeSH)
Grants:
UL1TR001873 (NIH – National Center for Advancing Translational Sciences)
RF1MH117800 (NIH – National Institute of Mental Health)
Publication Type:
Article
Unique ID:
10.1016/j.cell.2023.01.008
PMID:
36724788
DOI:
10.1016/j.cell.2023.01.008
Journal:
Cell
Publication Date:
Data Source:
PubMed
Source Link:
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Record Created:

The ELSI Virtual Forum, 30 Years of the Genome: Integrating and Applying ELSI Research

Moore, C. B., Dolan, D. D., Yarmolinsky, R., Cho, M. K., & Soo-Jin-Lee, S. (2023). The ELSI Virtual Forum, 30 Years of the Genome: Integrating and Applying ELSI Research. Journal of Law, Medicine & Ethics, 51(3), 661–671. https://doi.org/10.1017/jme.2023.109
Authors:
Caroline B. Moore
Deanne Dunbar Dolan
Rachel Yarmolinsky
Sandra Soo-Jin-Lee
Mildred K. Cho
Affiliated Authors:
Rachel Yarmolinsky
Sandra Soo-Jin-Lee
Columbia Affiliation:
Author Keywords:
elsi
ethics
genetics
biases
justice
equity
Grants:
U13HG010830 (NIH – National Human Genome Research Institute)
U24HG010733 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1017/jme.2023.109
PMID:
38088602
DOI:
10.1017/jme.2023.109
Journal:
Journal of Law Medicine and Ethics
Publication Date:
Data Source:
Web of Science
Source Link:
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Record Created:

Data sharing and community-engaged research Data sharing must be accompanied by responsibility sharing

Sabatello, M., Martschenko, D. O., Cho, M. K., & Brothers, K. B. (2022). Data sharing and community-engaged research. Science, 378(6616), 141–143. https://doi.org/10.1126/science.abq6851
Authors:
Maya Sabatello
Daphne O. Martschenko
Mildred K. Cho
Kyle B. Brothers
Affiliated Authors:
Maya Sabatello
Columbia Affiliation:
Subjects:
Information Dissemination (MeSH)
Grants:
T32HG008953 (NIH – National Human Genome Research Institute)
U24HG010733 (NIH – National Human Genome Research Institute)
R01HG010868 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1126/science.abq6851
PMID:
36227983
DOI:
10.1126/science.abq6851
Journal:
Science
Publication Date:
Data Source:
Scopus
Source Link:
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Record Created:

Concerns about the use of polygenic embryo screening for psychiatric and cognitive traits

Lencz, T., Sabatello, M., Docherty, A., Peterson, R. E., Soda, T., Austin, J., Bierut, L., Crepaz-Keay, D., Curtis, D., Degenhardt, F., Huckins, L., Lazaro-Munoz, G., Mattheisen, M., Meiser, B., Peay, H., Rietschel, M., Walss-Bass, C., & Davis, L. K. (2022). Concerns about the use of polygenic embryo screening for psychiatric and cognitive traits. The Lancet Psychiatry, 9(10), 838–844. https://doi.org/10.1016/s2215-0366(22)00157-2
Authors:
Todd Lencz
Maya Sabatello
Anna Docherty
Roseann E Peterson
Takahiro Soda
Jehannine Austin
Laura Bierut
David Crepaz-Keay
David Curtis
Franziska Degenhardt
Laura Huckins
Gabriel Lazaro-Munoz
Manuel Mattheisen
Bettina Meiser
Holly Peay
Marcella Rietschel
Consuelo Walss-Bass
Lea K Davis
Affiliated Authors:
Maya Sabatello
Columbia Affiliation:
Subjects:
Mental Disorders (MeSH)
Multifactorial Inheritance (MeSH)
Grants:
R01HG011711 (NIH – National Human Genome Research Institute)
K01HG008653 (NIH – National Human Genome Research Institute)
R01MH124839 (NIH – National Institute of Mental Health)
R01MH123619 (NIH – National Institute of Mental Health)
R01MH128676 (NIH – National Institute of Mental Health)
Publication Type:
Article
Unique ID:
10.1016/s2215-0366(22)00157-2
PMID:
35931093
DOI:
10.1016/s2215-0366(22)00157-2
Journal:
Lancet Psychiatry
Publication Date:
Data Source:
PubMed
Source Link:
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Addressing underrepresentation in genomics research through community engagement

Lemke, A. A., Esplin, E. D., Goldenberg, A. J., Gonzaga-Jauregui, C., Hanchard, N. A., Harris-Wai, J., Ideozu, J. E., Isasi, R., Landstrom, A. P., Prince, A. E. R., Turbitt, E., Sabatello, M., Schrier Vergano, S. A., Taylor, M. R. G., Yu, J.-H., Brothers, K. B., & Garrison, N. A. (2022). Addressing underrepresentation in genomics research through community engagement. The American Journal of Human Genetics, 109(9), 1563–1571. https://doi.org/10.1016/j.ajhg.2022.08.005
Authors:
Amy A Lemke
Edward D Esplin
Aaron J Goldenberg
Claudia Gonzaga-Jauregui
Neil A Hanchard
Julie Harris-Wai
Justin E Ideozu
Rosario Isasi
Andrew P Landstrom
Anya E R Prince
Erin Turbitt
Maya Sabatello
Samantha A Schrier Vergano
Matthew R G Taylor
Joon-Ho Yu
Kyle B Brothers
Nanibaa' A Garrison
Affiliated Authors:
Maya Sabatello
Columbia Affiliation:
Subjects:
Genomics (MeSH)
Research Personnel (MeSH)
Publication Type:
Article
Unique ID:
10.1016/j.ajhg.2022.08.005
PMID:
36055208
DOI:
10.1016/j.ajhg.2022.08.005
Journal:
American Journal of Human Genetics
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
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Record Created:

Targeting Representation: Interpreting Calls for Diversity in Precision Medicine Research

Lee, S. S., Fullerton, S. M., McMahon, C. E., Bentz, M., Saperstein, A., Jeske, M., Vasquez, E., Foti, N., Saco, L., & Shim, J. K. (2022). Targeting Representation: Interpreting Calls for Diversity in Precision Medicine Research. The Yale journal of biology and medicine, 95(3), 317–326.

Authors:
Sandra Soo-Jin Lee
Stephanie M Fullerton
Caitlin E McMahon
Michael Bentz
Aliya Saperstein
Melanie Jeske
Emily Vasquez
Nicole Foti
Larissa Saco
Janet K Shim
Affiliated Authors:
Sandra Soo-Jin Lee
Caitlin E McMahon
Michael Bentz
Columbia Affiliation:
Subjects:
Biomedical Research (MeSH)
Precision Medicine (MeSH)
Author Keywords:
diversity
precision medicine research
bioethics
Grants:
R01HG010330 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
36187415
PMID:
36187415
Journal:
Yale Journal of Biology and Medicine
Publication Date:
Data Source:
PubMed
Source Link:
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Three decades of ethical, legal, and social implications research: Looking back to chart a path forward

Dolan, D. D., Lee, S. S.-J., & Cho, M. K. (2022). Three decades of ethical, legal, and social implications research: Looking back to chart a path forward. Cell Genomics, 2(7), 100150. https://doi.org/10.1016/j.xgen.2022.100150
Authors:
Deanne Dunbar Dolan
Sandra Soo-Jin Lee
Mildred K Cho
Affiliated Authors:
Sandra Soo-Jin Lee
Columbia Affiliation:
Grants:
U24HG010733 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1016/j.xgen.2022.100150
PMID:
35935917
DOI:
10.1016/j.xgen.2022.100150
Journal:
Cell Genomics
Publication Date:
Data Source:
PubMed
Source Link:
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Record Created:

Strategies of inclusion: The tradeoffs of pursuing ?baked in? diversity through place-based recruitment

Shim, J. K., Bentz, M., Vasquez, E., Jeske, M., Saperstein, A., Fullerton, S. M., Foti, N., McMahon, C., & Lee, S. S.-J. (2022). Strategies of inclusion: The tradeoffs of pursuing “baked in” diversity through place-based recruitment. Social Science & Medicine, 306, 115132. https://doi.org/10.1016/j.socscimed.2022.115132
Authors:
Janet K. Shim
Nicole Foti
Michael Bentz
Caitlin McMahon
Sandra Soo-Jin Lee
Emily Vasquez
Melanie Jeske
Aliya Saperstein
Stephanie M. Fullerton
Affiliated Authors:
Michael Bentz
Caitlin McMahon
Sandra Soo-Jin Lee
Columbia Affiliation:
Subjects:
Biomedical Research (MeSH)
Research Personnel (MeSH)
Author Keywords:
biomedical research
diversity
inclusion
precision medicine
research participation
Grants:
R01HG010330 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1016/j.socscimed.2022.115132
PMID:
35728460
DOI:
10.1016/j.socscimed.2022.115132
Journal:
Social Science and Medicine
Publication Date:
Data Source:
Web of Science
Source Link:
View Web of Science Record
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Record Created:

Challenges and potential solutions to health disparities in genomic medicine

Lee, S. S.-J., Appelbaum, P. S., & Chung, W. K. (2022). Challenges and potential solutions to health disparities in genomic medicine. Cell, 185(12), 2007–2010. https://doi.org/10.1016/j.cell.2022.05.010
Authors:
Sandra Soo-Jin Lee
Paul S Appelbaum
Wendy K Chung
Affiliated Authors:
Sandra Soo-Jin Lee
Paul S Appelbaum
Wendy K Chung
Columbia Affiliation:
Subjects:
Genomic Medicine (MeSH)
Genomics (MeSH)
Healthcare Disparities (MeSH)
Grants:
R01HG010365 (NIH – National Human Genome Research Institute)
R01HG010330 (NIH – National Human Genome Research Institute)
RM1HG007257 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1016/j.cell.2022.05.010
PMID:
35688129
DOI:
10.1016/j.cell.2022.05.010
Journal:
Cell
Publication Date:
Data Source:
PubMed
Source Link:
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Record Created:

Prolonged Unconsciousness is Common in COVID-19 and Associated with Hypoxemia

Waldrop, G., Safavynia, S. A., Barra, M. E., Agarwal, S., Berlin, D. A., Boehme, A. K., Brodie, D., Choi, J. M., Doyle, K., Fins, J. J., Ganglberger, W., Hoffman, K., Mittel, A. M., Roh, D., Mukerji, S. S., Der Nigoghossian, C., Park, S., Schenck, E. J., Salazar‐Schicchi, J., … Claassen, J. (2022). Prolonged Unconsciousness is Common in COVID‐19 and Associated with Hypoxemia. Annals of Neurology, 91(6), 740–755. Portico. https://doi.org/10.1002/ana.26342
Authors:
Greer Waldrop
Seyed A. Safavynia
Megan E. Barra
Sachin Agarwal
David A. Berlin
Amelia K Boehme
Daniel Brodie
Jacky M. Choi
Kevin Doyle
Joseph J. Fins
Wolfgang Ganglberger
Katherine Hoffman
Aaron M. Mittel
David Roh
Shibani S. Mukerji
Caroline Der Nigoghossian
Soojin Park
Edward J. Schenck
John Salazar-Schicchi
Qi Shen
Evan Sholle
Angela G. Velazquez
Maria C. Walline
M. Brandon Westover
Emery N. Brown
Jonathan Victor
Brian L. Edlow
Nicholas D. Schiff
Jan Claassen
Affiliated Authors:
Greer Waldrop
Seyed A. Safavynia
Sachin Agarwal
David A. Berlin
Amelia K Boehme
Daniel Brodie
Kevin Doyle
Joseph J. Fins
Aaron M. Mittel
David Roh
Caroline Der Nigoghossian
Soojin Park
Edward J. Schenck
John Salazar-Schicchi
Qi Shen
Angela G. Velazquez
Maria C. Walline
Jonathan Victor
Nicholas D. Schiff
Jan Claassen
Columbia Affiliation:
Subjects:
Brain Injuries (MeSH)
COVID-19 (MeSH)
Grants:
DP2HD101400 (NIH – Eunice Kennedy Shriver National Institute of Child Health & Human Development)
K23HL151876 (NIH – National Heart, Lung, and Blood Institute)
R21NS109627 (NIH – National Institute of Neurological Disorders and Stroke)
R03NS112760 (NIH – National Institute of Neurological Disorders and Stroke)
R01NS106014 (NIH – National Institute of Neurological Disorders and Stroke)
Publication Type:
Article
Unique ID:
10.1002/ana.26342
PMID:
35254675
DOI:
10.1002/ana.26342
Journal:
Annals of Neurology
Publication Date:
Data Source:
Scopus
Source Link:
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Record Created:

Family secrets: Experiences and outcomes of participating in direct-to-consumer genetic relative-finder services

Guerrini, C. J., Robinson, J. O., Bloss, C. C., Bash Brooks, W., Fullerton, S. M., Kirkpatrick, B., Lee, S. S.-J., Majumder, M., Pereira, S., Schuman, O., & McGuire, A. L. (2022). Family secrets: Experiences and outcomes of participating in direct-to-consumer genetic relative-finder services. The American Journal of Human Genetics, 109(3), 486–497. https://doi.org/10.1016/j.ajhg.2022.01.013
Authors:
Christi J. Guerrini
Jill O. Robinson
Whitney Bash Brooks
Mary Majumder
Stacey Pereira
Olivia Schuman
Amy L. McGuire
Cinnamon C. Bloss
Stephanie M. Fullerton
Brianne Kirkpatrick
Sandra Soo-Jin Lee
Affiliated Authors:
Sandra Soo-Jin Lee
Columbia Affiliation:
Subjects:
Direct-To-Consumer Screening and Testing (MeSH)
Genetic Testing (MeSH)
Author Keywords:
adoption
ancestry
direct-to-consumer genetic testing
donor conception
family secrets
misattributed parentage
non-paternity event
relative matching
Grants:
R01HG011268 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1016/j.ajhg.2022.01.013
PMID:
35216680
DOI:
10.1016/j.ajhg.2022.01.013
Journal:
American Journal of Human Genetics
Publication Date:
Data Source:
Web of Science
Source Link:
View Web of Science Record
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Record Created:

Increasing inclusivity in precision medicine research: Views of deaf and hard of hearing individuals

Garofalo, D. C., Rosenblum, H. A., Zhang, Y., Chen, Y., Appelbaum, P. S., & Sabatello, M. (2022). Increasing inclusivity in precision medicine research: Views of deaf and hard of hearing individuals. Genetics in Medicine, 24(3), 712–721. https://doi.org/10.1016/j.gim.2021.11.015
Authors:
Diana C. Garofalo
Howard A. Rosenblum
Yuan Zhang
Ying Chen
Paul S. Appelbaum
Maya Sabatello
Affiliated Authors:
Diana C. Garofalo
Yuan Zhang
Paul S. Appelbaum
Maya Sabatello
Columbia Affiliation:
Subjects:
Disabled Persons (MeSH)
Hearing Loss (MeSH)
Persons with Hearing Disabilities (MeSH)
Author Keywords:
accessibility
deaf/hard of hearing individuals
health disparities
precision medicine research
trust
Grants:
R01HG010868 (NIH – National Human Genome Research Institute)
P50HG007257 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1016/j.gim.2021.11.015
PMID:
34949531
DOI:
10.1016/j.gim.2021.11.015
Journal:
Genetics in Medicine
Publication Date:
Data Source:
Scopus
Source Link:
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Record Created:

Beyond inclusion: Enacting team equity in precision medicine research

Jeske, M., Vasquez, E., Fullerton, S. M., Saperstein, A., Bentz, M., Foti, N., Shim, J. K., & Lee, S. S.-J. (2022). Beyond inclusion: Enacting team equity in precision medicine research. PLOS ONE, 17(2), e0263750. https://doi.org/10.1371/journal.pone.0263750
Authors:
Melanie Jeske
Emily Vasquez
Stephanie M Fullerton
Aliya Saperstein
Michael Bentz
Nicole Foti
Janet K Shim
Sandra Soo-Jin Lee
Affiliated Authors:
Michael Bentz
Sandra Soo-Jin Lee
Columbia Affiliation:
Subjects:
Biomedical Research (MeSH)
Cultural Diversity (MeSH)
Laboratory Personnel (MeSH)
Precision Medicine (MeSH)
Grants:
R01HG010330 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1371/journal.pone.0263750
PMID:
35130331
DOI:
10.1371/journal.pone.0263750
Journal:
PLOS ONE
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record
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Record Created:

An Examination of the Ethical and Legal Limits in Implementing "Traceback Testing" for Deceased Patients

Martucci, J., Prado, Y., Rope, A. F., Weinmann, S., White, L., Zepp, J., Henrikson, N. B., Feigelson, H. S., Hunter, J. E., & Lee, S. S.-J. (2022). An Examination of the Ethical and Legal Limits in Implementing “Traceback Testing” for Deceased Patients. Journal of Law, Medicine & Ethics, 50(4), 818–832. https://doi.org/10.1017/jme.2023.23
Authors:
Jessica Martucci
Yolanda Prado
Alan F Rope
Sheila Weinmann
Larissa White
Jamilyn Zepp
Nora B Henrikson
Heather Spencer Feigelson
Jessica Ezzell Hunter
Sandra Soo-Jin Lee
Affiliated Authors:
Sandra Soo-Jin Lee
Columbia Affiliation:
Subjects:
Family (MeSH)
Genetic Testing (MeSH)
Author Keywords:
traceback testing
cascade screening
return of results
brca1
brca2
hereditary breast and ovarian cancer
cancer syndromes
brca1/brca2
Grants:
U01CA244323 (NIH – National Cancer Institute)
Publication Type:
Article
Unique ID:
10.1017/jme.2023.23
PMID:
36883408
DOI:
10.1017/jme.2023.23
Journal:
Journal of Law Medicine and Ethics
Publication Date:
Data Source:
PubMed
Source Link:
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Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol

Kauffman, T. L., Prado, Y. K., Reyes, A. A., Zepp, J. M., Sawyer, J., White, L. L., Martucci, J., Salas, S. B., Vertrees, S., Rope, A. F., Weinmann, S., Henrikson, N. B., Lee, S. S.-J., Feigelson, H. S., & Hunter, J. E. (2021). Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol. Journal of Personalized Medicine, 11(11), 1194. https://doi.org/10.3390/jpm11111194
Authors:
Tia L. Kauffman
Yolanda K. Prado
Ana A. Reyes
Jamilyn M. Zepp
Sarah Vertrees
Alan F. Rope
Sheila Weinmann
Jessica Ezzell Hunter
Jennifer Sawyer
Larissa Lee White
Heather Spencer Feigelson
Jessica Martucci
Suzanne Bianca Salas
Nora B. Henrikson
Sandra Soo-Jin Lee
Affiliated Authors:
Sandra Soo-Jin Lee
Columbia Affiliation:
Author Keywords:
ovarian cancer
traceback testing
cascade testing
post-mortem genetic testing
pathology
hereditary breast
Grants:
U01CA244323 (NIH – National Cancer Institute)
Publication Type:
Article
Unique ID:
10.3390/jpm11111194
PMID:
34834546
DOI:
10.3390/jpm11111194
Journal:
Journal of Personalized Medicine
Publication Date:
Data Source:
Web of Science
Source Link:
View Web of Science Record

Record Created:

Nature vs. Nurture in Precision Education: Insights of Parents and the Public

Sabatello, M., Martin, B., Corbeil, T., Lee, S., Link, B. G., & Appelbaum, P. S. (2021). Nature vs. Nurture in Precision Education: Insights of Parents and the Public. AJOB Empirical Bioethics, 13(2), 79–88. https://doi.org/10.1080/23294515.2021.1983666
Authors:
Maya Sabatello
Bree Martin
Thomas Corbeil
Seonjoo Lee
Bruce G Link
Paul S Appelbaum
Affiliated Authors:
Maya Sabatello
Seonjoo Lee
Paul S Appelbaum
Columbia Affiliation:
Subjects:
Achievement (MeSH)
Parents (MeSH)
Author Keywords:
behavioral genetics
environment
implicit association test
precision education
Grants:
K01HG008653 (NIH – National Human Genome Research Institute)
RM1HG007257 (NIH – National Human Genome Research Institute)
Publication Type:
Article
Unique ID:
10.1080/23294515.2021.1983666
PMID:
34644234
DOI:
10.1080/23294515.2021.1983666
Journal:
AJOB Empirical Bioethics
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record

Record Created:

Ethical Framework to Guide Decisions of Treatment Over Objection

Fischkoff, D., Prager, K., Dastidar, J., Dugdale, L., Neuberg, G., Nemeth, S., & Fischkoff, K. (2021). Ethical Framework to Guide Decisions of Treatment Over Objection. Journal of the American College of Surgeons, 233(4), 508–516. https://doi.org/10.1016/j.jamcollsurg.2021.07.003
Authors:
David Fischkoff
Kenneth Prager
Joyeeta Dastidar
Lydia Dugdale
Gerald Neuberg
Samantha Nemeth
Katherine Fischkoff
Affiliated Authors:
David Fischkoff
Kenneth Prager
Joyeeta Dastidar
Lydia Dugdale
Gerald Neuberg
Samantha Nemeth
Katherine Fischkoff
Columbia Affiliation:
Subjects:
Ethics, Medical (MeSH)
Informed Consent (MeSH)
Mental Competency (MeSH)
Treatment Refusal (MeSH)
Publication Type:
Article
Unique ID:
10.1016/j.jamcollsurg.2021.07.003
PMID:
34325018
DOI:
10.1016/j.jamcollsurg.2021.07.003
Journal:
Journal of the American College of Surgeons
Publication Date:
Data Source:
Scopus
Source Link:
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Record Created:

The Ethics of Consent in a Shifting Genomic Ecosystem

Lee, S. S.-J. (2021). The Ethics of Consent in a Shifting Genomic Ecosystem. Annual Review of Biomedical Data Science, 4(1), 145–164. https://doi.org/10.1146/annurev-biodatasci-030221-125715
Authors:
Sandra Soo-Jin Lee
Affiliated Authors:
Sandra Soo-Jin Lee
Columbia Affiliation:
Subjects:
Ecosystem (MeSH)
Privacy (MeSH)
Author Keywords:
consent
data sharing
ethics
genetics
human subjects protections
learning health system
Grants:
R03HG010178 (NIH – National Human Genome Research Institute)
R01LM012180 (NIH – National Library of Medicine)
Publication Type:
Article
Unique ID:
10.1146/annurev-biodatasci-030221-125715
PMID:
34465167
DOI:
10.1146/annurev-biodatasci-030221-125715
Journal:
Annual Review of Biomedical Data Science
Publication Date:
Data Source:
PubMed
Source Link:
View PubMed Record

Record Created:

Psychiatric genetic essentialism and stigma in child custody proceedings: public views

Sabatello, M., Chao, A., Insel, B. J., Corbeil, T., Link, B. G., & Appelbaum, P. S. (2021). Psychiatric genetic essentialism and stigma in child custody proceedings: public views. Journal of Law and the Biosciences, 8(2). https://doi.org/10.1093/jlb/lsab026
Authors:
Maya Sabatello
Audrey Chao
Beverly J. Insel
Thomas Corbeil
Bruce G. Link
Paul S. Appelbaum
Affiliated Authors:
Maya Sabatello
Audrey Chao
Paul S. Appelbaum
Columbia Affiliation:
Author Keywords:
child custody
genetic essentialism
implicit bias
psychiatric genetic evidence
stigma
Publication Type:
Article
Unique ID:
10.1093/jlb/lsab026
PMID:
34457316
DOI:
10.1093/jlb/lsab026
Journal:
Journal of Law and the Biosciences
Publication Date:
Data Source:
Web of Science
Source Link:
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Record Created:

CSV