Ethical, Legal, and Social Issues

Genetics in Medicine

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Ask me later: deciding to have clinical exome trio sequencing for my critically ill child
- Jill Oliver Robinson
Special Article10 Jun 2021 Genetics in Medicine
Can you hear us now? The impact of health-care utilization by rare disease patients in the United States
- Angela A. Navarrete-Opazo
- Maharaj Singh
- Sheldon R. Garrison
ArticleOpen Access28 Jun 2021 Genetics in Medicine
Clinical likelihood ratios and balanced accuracy for 44 in silico tools against multiple large-scale functional assays of cancer susceptibility genes
- C. Cubuk
- A. Garrett
- CanVIG-UK
ArticleOpen Access6 Jul 2021 Genetics in Medicine
Laboratory business models and practices: implications for availability and access to germline genetic testing
- Maren T. Scheuner
- Michael P. Douglas
- Kathryn A. Phillips
ArticleOpen Access6 May 2021 Genetics in Medicine
Recontacting registry participants with genetic updates through GenomeConnect, the ClinGen patient registry
- Juliann M. Savatt
- Danielle R. Azzariti
- Christa Lese Martin
Article18 May 2021 Genetics in Medicine
Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders
- Celine Bris
- David Goudenège
- Vincent Procaccio
Article26 May 2021 Genetics in Medicine
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG)
- David T. Miller
- Kristy Lee
- ACMG Secondary Findings Working Group
ACMG Statement20 May 2021 Genetics in Medicine
Taking an antiracist posture in scientific publications in human genetics and genomics
- Kyle B. Brothers
- Robin L. Bennett
- Mildred K. Cho
Special Article1 Mar 2021 Genetics in Medicine
Preferences of biobank participants for receiving actionable genomic test results: results of a recontacting study
- Nora B. Henrikson
- Aaron Scrol
- Gail P. Jarvik
Brief Communication18 Feb 2021 Genetics in Medicine
DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics and Genomics (ACMG)
- Lora J. H. Bean
- Maren T. Scheuner
- ACMG Board of Directors
ACMG Statement31 Mar 2021 Genetics in Medicine
DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG)
- Michael F. Murray
- Monica A. Giovanni
- ACMG Board of Directors
ACMG Statement16 Mar 2021 Genetics in Medicine
Is precision medicine relevant in the age of COVID-19?
- Amy Zhou
- Maya Sabatello
- Paul S. Appelbaum
Comment13 Jan 2021 Genetics in Medicine
Call for improvement in medical school training in genetics: results of a national survey
- Richard L. Haspel
- Jonathan R. Genzen
- Rebecca L. Wilcox
Education Report12 Feb 2021 Genetics in Medicine
Outcomes of prior authorization requests for genetic testing in outpatient pediatric genetics clinics
- Hadley Stevens Smith
- Rachel Franciskovich
- Haley Streff
Article20 Jan 2021 Genetics in Medicine
Increasing access to individualized medicine: a matched-cohort study examining Latino participant experiences of genomic screening
- Joel E. Pacyna
- Gabriel Q. Shaibi
- Richard R. Sharp
Article26 Jan 2021 Genetics in Medicine
Does the law require reinterpretation and return of revised genomic results?
- Ellen Wright Clayton
- Paul S. Appelbaum
- Barbara J. Evans
Special Article8 Jan 2021 Genetics in Medicine
Private payer coverage policies for ApoE-e4 genetic testing
- Jalayne J. Arias
- Ana M. Tyler
- Kathryn A. Phillips
Article8 Jan 2021 Genetics in Medicine
Effect of genetics clinical decision support tools on health-care providers’ decision making: a mixed-methods systematic review
- Agnes Sebastian
- June C. Carroll
- Yvonne Bombard
Systematic Review8 Jan 2021 Genetics in Medicine
Impact of prenatal exome sequencing for fetal genetic diagnosis on maternal psychological outcomes and decisional conflict in a prospective cohort
- Asha N. Talati
- Kelly L. Gilmore
- Neeta L. Vora
Article20 Nov 2020 Genetics in Medicine
Evaluating the resource implications of different service delivery models for offering additional genomic findings
- Martin Vu
- Koen Degeling
- Maarten J. IJzerman
Article20 Nov 2020 Genetics in Medicine
Screening embryos for polygenic conditions and traits: ethical considerations for an emerging technology
- Gabriel Lázaro-Muñoz
- Stacey Pereira
- Todd Lencz
Comment27 Oct 2020 Genetics in Medicine
Ethical and public health implications of genetic testing for suicide risk: family and survivor perspectives
- Brent M. Kious
- Anna R. Docherty
- Hilary Coon
Article6 Oct 2020 Genetics in Medicine
Return of results in a global survey of psychiatric genetics researchers: practices, attitudes, and knowledge
- Gabriel Lázaro-Muñoz
- Laura Torgerson
- Stacey Pereira
Article9 Oct 2020 Genetics in Medicine
Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls
- Kevin M. Bowling
- Michelle L. Thompson
- Gregory M. Cooper
Article29 Sep 2020 Genetics in Medicine
Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis
- Chloe Mighton
- Salma Shickh
- Yvonne Bombard
Systematic Review14 Sep 2020 Genetics in Medicine
Airmen and health-care providers’ attitudes toward the use of genomic sequencing in the US Air Force: findings from the MilSeq Project
- Stacey Pereira
- Rebecca L. Hsu
- Amy L. McGuire
Article18 Aug 2020 Genetics in Medicine
Alaska Native genomic research: perspectives from Alaska Native leaders, federal staff, and biomedical researchers
- Vanessa Y. Hiratsuka
- Michael J. Hahn
- Hina Walajahi
Review ArticleOpen Access25 Aug 2020 Genetics in Medicine
Patient reactions to receiving negative genomic screening results by mail
- Kelsey Stuttgen
- Joel Pacyna
- Richard R. Sharp
Article16 Jul 2020 Genetics in Medicine
Participant choices for return of genomic results in the eMERGE Network
- Christin Hoell
- Julia Wynn
- Cynthia A. Prows
Article16 Jul 2020 Genetics in Medicine
The limited use of US residual newborn screening dried bloodspots for health disparity research
- Naomi O. Riches
- Erin P. Johnson
- Erin Rothwell
Brief Communication12 Jun 2020 Genetics in Medicine
Ethical conflicts in translational genetic research: lessons learned from the eMERGE-III experience
- Colin M. E. Halverson
- Sarah T. Bland
- Ellen Wright Clayton
ArticleOpen Access18 Jun 2020 Genetics in Medicine
Societal considerations in host genome testing for COVID-19
- Richard Milne
Comment8 Jun 2020 Genetics in Medicine
Integrating stakeholder feedback in translational genomics research: an ethnographic analysis of a study protocol’s evolution
- Stephanie A. Kraft
- Carmit McMullen
- Sandra Soo-Jin Lee
Article24 Feb 2020 Genetics in Medicine
Parents’ perceptions of personal utility of exome sequencing results
- Lonna Mollison
- Julianne M. O’Daniel
- Debra Skinner
Article20 Dec 2019 Genetics in Medicine
Psychological outcomes related to exome and genome sequencing result disclosure: a meta-analysis of seven Clinical Sequencing Exploratory Research (CSER) Consortium studies
- Jill O. Robinson
- Julia Wynn
- Stacy W. Gray
Article13 Jun 2019 Genetics in Medicine
Genetic data partnerships: academic publications with privately owned or generated genetic data
- Kayte Spector-Bagdady
- Amanda Fakih
- J. Scott Roberts
Brief Communication17 Jun 2019 Genetics in Medicine
Responsibility, culpability, and parental views on genomic testing for seriously ill children
- Janet Malek
- Stacey Pereira
- Amy L. McGuire
Article12 Jun 2019 Genetics in Medicine
Genomic databases, subpoenas, and Certificates of Confidentiality
- Leslie E. Wolf
- Laura M. Beskow
CommentOpen Access26 Jun 2019 Genetics in Medicine
Genomic knowledge in the context of diagnostic exome sequencing: changes over time, persistent subgroup differences, and associations with psychological sequencing outcomes
- Christine Rini
- Gail E. Henderson
- Myra I. Roche
Article17 Jul 2019 Genetics in Medicine
Using the Delphi method to identify clinicians’ perceived importance of pediatric exome sequencing results
- Hadley Stevens Smith
- Heidi V. Russell
- and the Value of Exome Sequencing Delphi Panel
Article5 Jul 2019 Genetics in Medicine
Return of raw data in genomic testing and research: ownership, partnership, and risk–benefit
- Thomas May
- Mariko Nakano-Okuno
- Greg Barsh
Comment17 Jul 2019 Genetics in Medicine
Who’s on third? Regulation of third-party genetic interpretation services
- Christi J. Guerrini
- Jennifer K. Wagner
- Amy L. McGuire
Review Article12 Aug 2019 Genetics in Medicine
Psychiatric genomics researchers’ perspectives on best practices for returning results to individual participants
- Kristin Kostick
- Stacey Pereira
- Gabriel Lázaro-Muñoz
ArticleOpen Access3 Sep 2019 Genetics in Medicine
Parents of newborns in the NICU enrolled in genome sequencing research: hopeful, but not naïve
- Courtney Berrios
- Catherine Koertje
- John Lantos
Article30 Aug 2019 Genetics in Medicine
Health-care providers’ perspectives on uncertainty generated by variant forms of newborn screening targets
- Paul J. Azzopardi
- Ross E. G. Upshur
- Robin Z. Hayeems
ArticleOpen Access10 Oct 2019 Genetics in Medicine
Is there a duty to reinterpret genetic data? The ethical dimensions
- Paul S. Appelbaum
- Erik Parens
- Wylie Burke
Special Article15 Oct 2019 Genetics in Medicine
Genetic testing for Parkinson disease: current practice, knowledge, and attitudes among US and Canadian movement disorders specialists
- Roy N. Alcalay
- Caitlin Kehoe
- Martha Nance
ArticleOpen Access4 Nov 2019 Genetics in Medicine
The case for banning heritable genome editing
- Jeffrey R. Botkin
Comment21 Nov 2019 Genetics in Medicine
Rethinking the “open future” argument against predictive genetic testing of children
- Jeremy R. Garrett
- John D. Lantos
- on behalf of the Clinical Sequencing Exploratory Research (CSER) Consortium Pediatrics Working Group
Article21 Mar 2019 Genetics in Medicine
Disability inclusion in precision medicine research: a first national survey
- Maya Sabatello
- Ying Chen
- Paul S. Appelbaum
Article22 Mar 2019 Genetics in Medicine
What do we do now?: Responding to claims of germline gene editing in humans
- Megan Allyse
- Yvonne Bombard
- Kelly E. Ormond
Comment27 Mar 2019 Genetics in Medicine
Including the blind community in precision medicine research: findings from a national survey and recommendations
- Maya Sabatello
- Lou Ann Blake
- Paul S. Appelbaum
Education Report16 May 2019 Genetics in Medicine
Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background
- Kelly E. Ormond
- Miranda L. G. Hallquist
- W. Andrew Faucett
Article6 Jul 2018 Genetics in Medicine
Accelerating evidence gathering and approval of precision medicine therapies: the FDA takes aim at rare mutations
- Amalia M. Issa
- Adrian Thorogood
- Bartha M. Knoppers
CommentOpen Access10 Jul 2018 Genetics in Medicine
Including ELSI research questions in newborn screening pilot studies
- Aaron J. Goldenberg
- Michele Lloyd-Puryear
- for the Bioethics and Legal Workgroup of the Newborn Screening Translational Research Network
Article13 Aug 2018 Genetics in Medicine
The power of heredity and the relevance of eugenic history
- Paul A. Lombardo
Review Article31 Jul 2018 Genetics in Medicine
Medical genetics in developing countries in the Asia-Pacific region: challenges and opportunities
- Meow-Keong Thong
- Yiling See-Toh
- Jaffar Ali
Review Article10 Aug 2018 Genetics in Medicine
The physician–patient relationship in the age of precision medicine
- Gil Eyal
- Maya Sabatello
- Paul S. Appelbaum
Comment14 Sep 2018 Genetics in Medicine
Sharing data for future research—engaging participants’ views about data governance beyond the original project: a DIRECT Study
- Nisha Shah
- Victoria Coathup
- Jane Kaye
Article28 Sep 2018 Genetics in Medicine
Variant data sharing by clinical laboratories through public databases: consent, privacy and further contact for research policies
- Mahsa Shabani
- Stephanie O. M. Dyke
- Pascal Borry
Review Article8 Oct 2018 Genetics in Medicine
Experiences and perspectives on the return of secondary findings among genetic epidemiologists
- Catherine M. Stein
- Roselle Ponsaran
- Aaron J. Goldenberg
Article23 Nov 2018 Genetics in Medicine
A CRISPR focus on attitudes and beliefs toward somatic genome editing from stakeholders within the sickle cell disease community
- Anitra Persaud
- Stacy Desine
- Vence L. Bonham
ArticleOpen Access24 Dec 2018 Genetics in Medicine
Protecting trust in medical genetics in the new era of forensics
- Caitlin Curtis
- James Hereward
- John Devereux
CommentOpen Access18 Dec 2018 Genetics in Medicine
Constructing identities: the implications of DTC ancestry testing for tribal communities
- Hina Walajahi
- David R. Wilson
- Sara Chandros Hull
Article21 Jan 2019 Genetics in Medicine
Ethnic identity and engagement with genome sequencing research
- Erin Turbitt
- Megan C. Roberts
- William M. P. Klein
Article20 Dec 2018 Genetics in Medicine
Secondary research uses of residual newborn screening dried bloodspots: a scoping review
- Erin Rothwell
- Erin Johnson
- Jeffrey R. Botkin
ArticleOpen Access10 Dec 2018 Genetics in Medicine
Gene modification therapies: views of parents of people with Down syndrome
- Marsha Michie
- Megan Allyse
Article21 Jun 2018 Genetics in Medicine
Big data phenotyping in rare diseases: some ethical issues
- Nina Hallowell
- Michael Parker
- Christoffer Nellåker
CommentOpen Access15 Jun 2018 Genetics in Medicine
Normative and conceptual ELSI research: what it is, and why it’s important
- Lisa S. Parker
- Pamela L. Sankar
- David Kaufman
Special Article4 Jul 2018 Genetics in Medicine
Returning negative results to individuals in a genomic screening program: lessons learned
- Rita M. Butterfield
- James P. Evans
- Gail E. Henderson
Article6 Jun 2018 Genetics in Medicine
Genome-wide sequencing in acutely ill infants: genomic medicine’s critical application?
- Jan M. Friedman
- Yvonne Bombard
- for the Paediatric Task Team of the Global Alliance for Genomics and Health Regulatory and Ethics Work Stream
Special ArticleOpen Access12 Jun 2018 Genetics in Medicine
Physicians’ perspectives on receiving unsolicited genomic results
- Douglas B. Pet
- Ingrid A. Holm
- Ellen W. Clayton
Article5 Jul 2018 Genetics in Medicine
Secondary findings from next-generation sequencing: what does actionable in childhood really mean?
- Julie Richer
- Anne-Marie Laberge
Article6 Jun 2018 Genetics in Medicine
“I don’t want to be Henrietta Lacks”: diverse patient perspectives on donating biospecimens for precision medicine research
- Sandra S.-J. Lee
- Mildred K. Cho
- David Magnus
Article11 Jun 2018 Genetics in Medicine
When genomic medicine reveals misattributed genetic relationships—the debate about disclosure revisited
- C. F. Wright
- M. Parker
- A. M. Lucassen
ArticleOpen Access14 Jun 2018 Genetics in Medicine
Development of a consent resource for genomic data sharing in the clinical setting
- Erin Rooney Riggs
- Danielle R. Azzariti
- on behalf of the Clinical Genome Resource Education Working Group
Article13 Jun 2018 Genetics in Medicine
Anticipating uncertainty and irrevocable decisions: provider perspectives on implementing whole-genome sequencing in critically ill children with heart disease
- Danton S Char
- Sandra Soo-Jin Lee
- Mildred Cho
Article1 Mar 2018 Genetics in Medicine

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