The Ethical, Legal, and Social Implications Program of the National Human Genome Research Institute: reflections on an ongoing experiment.

For more than 20 years, the Ethical, Legal, and Social Implications (ELSI) Program of the National Human Genome Research Institute has supported empirical and conceptual research to anticipate and address the ethical, legal, and social implications of genomics. As a component of the agency that funds much of the underlying science, the program has always been an experiment. The ever-expanding number of issues the program addresses and the relatively low level of commitment on the part of other funding agencies to support such research make setting priorities especially challenging. Program-supported studies have had a significant impact on the conduct of genomics research, the implementation of genomic medicine, and broader public policies. The program's influence is likely to grow as ELSI research, genomics research, and policy development activities become increasingly integrated. Achieving the benefits of increased integration while preserving the autonomy, objectivity, and intellectual independence of ELSI investigators presents ongoing challenges and new opportunities.

[1]  J. Botkin.  Ethical Issues and Practical Problems in Preimplantation Genetic Diagnosis , 1998, Journal of Law, Medicine & Ethics.

[2]  L. Garrison,et al.  A Formal Risk-benefit Framework for Genomic Tests: Facilitating the Appropriate Translation of Genomics into Clinical Practice , 2022 .

[3]  M. Mehlman,et al.  Making All the Children Above Average: Ethical and Regulatory Concerns for Pediatricians in Pediatric Enhancement Research , 2009, Clinical pediatrics.

[4]  J. E. Nash,et al.  Privacy and confidentiality in the publication of pedigrees: a survey of investigators and biomedical journals. , 1998, JAMA.

[5]  A. McGuire,et al.  Perspectives on Human Microbiome Research Ethics , 2012, Journal of empirical research on human research ethics : JERHRE.

[6]  A. McGuire.  Identifiability of DNA Data: The Need for Consistent Federal Policy , 2008, The American journal of bioethics : AJOB.

[7]  A. McGuire,et al.  Regulating Direct-to-Consumer Personal Genome Testing , 2010, Science.

[8]  Marc S. Williams,et al.  ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing , 2013, Genetics in Medicine.

[9]  S. Brandt-Rauf,et al.  The Differing Perspectives of Workers and Occupational Medicine Physicians on the Ethical, Legal and Social Issues of Genetic Testing in the Workplace , 2011, New solutions : a journal of environmental and occupational health policy : NS.

[10]  J. Shendure,et al.  Informed consent for whole genome sequencing: A qualitative analysis of participant expectations and perceptions of risks, benefits, and harms , 2012, American journal of medical genetics. Part A.

[11]  M. Guyer,et al.  Charting a course for genomic medicine from base pairs to bedside , 2011, Nature.

[12]  John Van Hoewyk,et al.  Beliefs About Genes and Environment as Determinants of Behavioral Characteristics , 2007 .

[13]  E. Thomson,et al.  Recommendations for follow-up care of individuals with an inherited predisposition to Cancer. II. BRCA1 and BRCA2 , 1997 .

[14]  Shawneequa L. Callier.  Swabbing Students: Should Universities Be Allowed to Facilitate Educational DNA Testing? , 2012, The American journal of bioethics : AJOB.

[15]  E. Thomson,et al.  Patient acceptability of genotypic testing for hemochromatosis in primary care , 2005, Genetics in Medicine.

[16]  石川 大輔.  ミリアッド最高裁判決とUSPTOの新ガイダンス 今後の特許戦略に与える影響は大きい[Association for Molecular Pathology v. Myriad Genetics, 569 U.S. 12-398 (2013)] (特集 アメリカで吹き荒れるアンチパテントの嵐) , 2014 .

[17]  J. Garrett.  Reframing the Ethical Debate Regarding Incidental Findings in Genetic Research , 2013, The American journal of bioethics : AJOB.

[18]  E. Thomson,et al.  Recommendations for Follow-up Care of Individuals With an Inherited Predisposition to Cancer: I. Hereditary Nonpolyposis Colon Cancer , 1997 .

[19]  B. Levin,et al.  American Cancer Society Guidelines for the Early Detection of Cancer , 2002, CA: a cancer journal for clinicians.

[20]  W. Burke,et al.  From Leaky Pipeline to Irrigation System: Minority Education Through the Lens of Community-Based Participatory Research , 2012, Progress in community health partnerships : research, education, and action.

[21]  L. Gostin,et al.  Genetic privacy and the law: an end to genetics exceptionalism. , 1999, Jurimetrics.

[22]  J. H. Fujimura,et al.  Different differences: The use of ‘genetic ancestry’ versus race in biomedical human genetic research , 2011, Social studies of science.

[23]  Holtzman Na,et al.  Promoting safe and effective genetic testing in the United States. Final report of the Task Force on Genetic Testing. , 1999, Journal of child and family nursing.

[24]  H. Seiden.  Plan , 2012 .

[25]  L M Kopelman,et al.  Informed consent for genetic research on stored tissue samples. , 1995, JAMA.

[26]  R. Green.  NHGRI's Intramural Ethics Experiment , 1997, Kennedy Institute of Ethics journal.

[27]  Barbara J Evans,et al.  The First Amendment Right to Speak About the Human Genome. , 2014, University of Pennsylvania journal of constitutional law.

[28]  E Marshall,et al.  The Genome Program's Conscience , 1996, Science.

[29]  L. Crawley,et al.  Research 2.0: Social Networking and Direct-To-Consumer (DTC) Genomics , 2009, The American journal of bioethics : AJOB.

[30]  M. Aronson,et al.  Screening for Hereditary Hemochromatosis: A Clinical Practice Guideline from the American College of Physicians , 2005, Annals of Internal Medicine.

[31]  N. Holtzman,et al.  Attitudes of physicians and genetics professionals toward cystic fibrosis carrier screening. , 1994, American journal of medical genetics.

[32]  Joan Scott,et al.  Risky Business: Risk Perception and the Use of Medical Services among Customers of DTC Personal Genetic Testing , 2012, Journal of Genetic Counseling.

[33]  K. Hudson,et al.  Privacy in Genetics Research , 1999, Science.

[34]  Lori B. Andrews,et al.  Assessing Genetic Risks: Implications for Health and Social Policy , 1994 .

[35]  M Gwinn,et al.  Informed consent for population-based research involving genetics. , 2001, JAMA.

[36]  Newborn screening: toward a uniform screening panel and system. , 2006, Genetics in medicine : official journal of the American College of Medical Genetics.

[37]  E. Juengst.  Self-Critical Federal Science? The Ethics Experiment within the U.S. Human Genome Project , 1996, Social Philosophy and Policy.

[38]  W. P. Evans,et al.  American Cancer Society Guidelines for Breast Cancer Screening: Update 2003 , 2003, CA: a cancer journal for clinicians.

[39]  R. Sharp,et al.  Ethical and Policy Issues in Genetic Testing and Screening of Children , 2016, Pediatric Clinical Practice Guidelines & Policies.

[40]  K. Weinfurt,et al.  Developing a Simplified Consent Form for Biobanking , 2010, PloS one.

[41]  M. Leppert,et al.  Community Engagement and Informed Consent in the International HapMap Project , 2007, Public Health Genomics.

[42]  B. Sampat,et al.  Accountability in patenting of federally funded research , 2012, Nature Biotechnology.

[43]  Kathy Hudson,et al.  Subjects matter: a survey of public opinions about a large genetic cohort study , 2008, Genetics in Medicine.

[44]  Jon F. Merz,et al.  DNA Patenting and Licensing , 2002, Science.

[45]  S. Fullerton,et al.  Glad You Asked: Participants' Opinions of Re-Consent for DbGap Data Submission , 2010, Journal of empirical research on human research ethics : JERHRE.

[46]  M. W. Foster,et al.  The role of community review in evaluating the risks of human genetic variation research. , 1999, American journal of human genetics.

[47]  M A Hall,et al.  Laws restricting health insurers' use of genetic information: impact on genetic discrimination. , 2000, American journal of human genetics.

[48]  H. Greely,et al.  Informational risk, institutional review, and autonomy in the proposed changes to the common rule. , 2012, IRB.

[49]  M. Cho,et al.  Toward a New Vocabulary of Human Genetic Variation , 2002, Science.

[50]  Joan Scott,et al.  Public opinion about the importance of privacy in biobank research. , 2009, American journal of human genetics.

[51]  J. Robertson.  Extending preimplantation genetic diagnosis: the ethical debate. Ethical issues in new uses of preimplantation genetic diagnosis. , 2003, Human reproduction.

[52]  B. Knoppers,et al.  Recommendations for returning genomic incidental findings? We need to talk! , 2013, Genetics in Medicine.

[53]  Harvey V. Fineberg,et al.  The Ethical, Legal, and Social Implications Program of the National Center for Human Genome Research: A Missed Opportunity? , 1995 .

[54]  Nicholas R. Anderson,et al.  Meeting the Governance Challenges of Next-Generation Biorepository Research , 2010, Science Translational Medicine.

[55]  Alastair Kent,et al.  Promoting Safe and Effective Genetic Testing in the United States. Final Report of the Task Force on Genetic Testing , 2000 .

[56]  E. Emanuel.  The NIH and bioethics: what should be done? , 2008, Academic medicine : journal of the Association of American Medical Colleges.

[57]  Edwin W. Naylor,et al.  Effect of Expanded Newborn Screening for Biochemical Genetic Disorders on Child Outcomes and Parental Stress , 2003 .

[58]  S. Fullerton,et al.  Values in Translation: How Asking the Right Questions Can Move Translational Science Toward Greater Health Impact , 2012, Clinical and translational science.

[59]  C. Morrissey,et al.  Funding and Forums for ELSI Research: Who (or What) Is Setting the Agenda? , 2012, AJOB primary research.

[60]  E. Emanuel.  The Blossoming of Bioethics at NIH , 1998, Kennedy Institute of Ethics journal.

[61]  Alice A. Noble.  DNA Fingerprinting and Civil Liberties , 2006, Journal of Law, Medicine & Ethics.

[62]  Troy Duster,et al.  Genetic Information and the Workplace: Legislative Approaches and Policy Challenges , 1997, Science.

[63]  H. Saal,et al.  Ethical and Policy Issues in Genetic Testing and Screening of Children , 2013, Pediatrics.

[64]  N. Schork,et al.  Effect of direct-to-consumer genomewide profiling to assess disease risk. , 2011, The New England journal of medicine.

[65]  H. Greely,et al.  Strangers at the Benchside: Research Ethics Consultation , 2008 .

[66]  J. Roiser.  Review of Erik Parens, Audrey R. Chapman, and Nancy Press (eds.), Wrestling with Behavioral Genetics: Science, Ethics, and Public Conversation , 2007 .

[67]  R. Cook-Deegan,et al.  The licensing of DNA patents by US academic institutions: an empirical survey , 2006, Nature Biotechnology.

[68]  E. Clayton,et al.  Lack of interest by nonpregnant couples in population-based cystic fibrosis carrier screening. , 1996, American journal of human genetics.

[69]  Robert C. Green,et al.  Exploring concordance and discordance for return of incidental findings from clinical sequencing , 2012, Genetics in Medicine.

[70]  Michael S. Watson,et al.  Newborn Screening: Toward a Uniform Screening Panel and System—Executive Summary , 2006, Pediatrics.

[71]  Genetic Privacy and the Fourth Amendment: Unregulated Surreptitious DNA Harvesting , 2013 .

[72]  M. Rothstein,et al.  DNA-Based Identity Testing and the Future of the Family: A Research Agenda , 2002, American Journal of Law & Medicine.

[73]  J. Sorenson,et al.  CF Carrier testing in a high risk population: Anxiety, risk perceptions, and reproductive plans of carrier by “non-carrier” couples , 1999, Genetics in Medicine.

[74]  C. Royal,et al.  Tilting at windmills no longer: a data-driven discussion of DTC DNA ancestry tests , 2012, Genetics in Medicine.

[75]  E. Clayton,et al.  Identifiability in biobanks: models, measures, and mitigation strategies , 2011, Human Genetics.

[76]  M. Mehlman,et al.  Ethical and Legal Issues in Enhancement Research on Human Subjects , 2011, Cambridge Quarterly of Healthcare Ethics.

[77]  J. Stockman.  Disclosure of APOE Genotype for Risk of Alzheimer's Disease , 2011 .

[78]  K H Rothenberg,et al.  Genetic Discrimination and Health Insurance: An Urgent Need for Reform , 1995, Science.

[79]  P. Ossorio,et al.  The Illusive Gold Standard in Genetic Ancestry Testing , 2009, Science.

[80]  A. Patenaude,et al.  Information needs of mothers regarding communicating BRCA1/2 cancer genetic test results to their children. , 2007, Genetic testing.

[81]  T. Raghunathan,et al.  The Effect of Question Framing and Response Options on the Relationship between Racial Attitudes and Beliefs about Genes as Causes of Behavior. , 2010, Public opinion quarterly.

[82]  Stephanie M Fullerton,et al.  Research guidelines in the era of large-scale collaborations: an analysis of Genome-wide Association Study Consortia. , 2012, American journal of epidemiology.