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Since its creation in 1990, the Ethical, Legal and Social Implications (ELSI) Research Program has funded hundreds of research projects, conferences, and other activities-through grants and contracts. This has resulted in many peer reviewed journal articles, books, newsletters, websites, television and radio programs and educational materials. Many of these products are included in this database (updates are still in progress). However, there are likely to be a number of publications missing, particularly those affiliated with older grants.

Overview

The ELSI Publications and Products Database organizes the publications for all ELSI projects and activities by the last name of the principle investigator (PI). Each entry also includes, and can be searched by:

  • A specific topic - or search term - related to an ELSI issue, (i.e., discrimination, genetic testing or privacy)
  • The name of the author
  • The name of the journal
  • The type of grant (i.e., education, research or conference).
  • The grant number.
  • The name of the principal investigator.

Note: To see ALL publications, click on the Search button below without typing anything into the search fields. (Please be aware that publications with multiple authors may be associated with more than one project and will appear on the comprehensive list for each relevant project.)

Missing publication? Many of these products are included in this database (updates are still in progress). However, there are likely to be a number of publications missing, particularly those affiliated with older grants. If you know of an ELSI funded product that is not currently listed in this database, please submit a request to add it.


Topical Bibliographic Resource on DNA Identification

An annotated listing of  publications and other products from research supported by the ELSI program on issues related to using DNA for identification purposes in a wide range of settings.

  • Overview

    The ELSI Publications and Products Database organizes the publications for all ELSI projects and activities by the last name of the principle investigator (PI). Each entry also includes, and can be searched by:

    • A specific topic - or search term - related to an ELSI issue, (i.e., discrimination, genetic testing or privacy)
    • The name of the author
    • The name of the journal
    • The type of grant (i.e., education, research or conference).
    • The grant number.
    • The name of the principal investigator.

    Note: To see ALL publications, click on the Search button below without typing anything into the search fields. (Please be aware that publications with multiple authors may be associated with more than one project and will appear on the comprehensive list for each relevant project.)

    Missing publication? Many of these products are included in this database (updates are still in progress). However, there are likely to be a number of publications missing, particularly those affiliated with older grants. If you know of an ELSI funded product that is not currently listed in this database, please submit a request to add it.


    Topical Bibliographic Resource on DNA Identification

    An annotated listing of  publications and other products from research supported by the ELSI program on issues related to using DNA for identification purposes in a wide range of settings.

COOK DEEGAN, Robert - Duke Center for the Study of Public Genomics [P50 HG003391]

Duke's Center for the Study of Public Genomics will gather and analyze information about the role of publication, data sharing, materials-sharing, patenting, database protection, and other practices that affect information flow in genomics research and development. Managing intellectual property and ensuring the preservation of a robust "scientific commons" could prove as difficult as or more so than the science and technology, and could have as large of an impact on what results are produced, who has access to them, and how fairly they are distributed. These are deeply ethical questions, highly dependent on policy decisions in government and the private sector. Intellectual property is new to the ELSI scene, but it is here to stay. The Center will combine qualitative and quantitative research and analysis involving Duke Arts & Sciences, the Medical School, Law School, Fuqua Business School, Sanford Institute for Public Policy, as well as the DNA Patent Database at Georgetown University. The Center builds on structures designed to enable collaborative research at Duke and with external organizations. The Center will bring together economists, legal scholars, molecular biologists, computational biologists, philosophers, English professors, and others. It will combine research training with Center research activity. The pervasiveness, importance, complexity, uncertainty, and persistence of concerns about the role of intellectual property will be addressed in four research projects, supported by four cores. The projects are: —> case histories, including intellectual property landscapes of seminal genomic technologies and data sharing practices (DNA sequencing and microarray technologies, data-release and data-sharing practices); —> models of open and collaborative production in genomics research and development; —> intellectual property protection of databases and alternative regimes to reconcile public science with the commercialization of research results; and —> empirical analysis of information flow in genomics based on a pilot survey.

Cook-Deegan R, Chandrasekharan S . Patents and genome-wide DNA sequence analysis: is it safe to go into the human genome?. J Law Med Ethics, 42 (S1):42-50. 2014. [SAGE] Journal Article

Pressman, L., Burgess, R., Cook-Deegan, R., McCormack, S.J., Nami-Wolk, I., Soucy, M. and Walters, L. "The Licensing of DNA Patents by US Academic Institutions: An Empirical Survey." Nature Biotechnology 24(1):31-9.

[Full Text]
Journal Article

Rai, A. & Boyle, J. Synthetic biology: caught between property rights, the public domain, and the commons. PLoS Biol. 5, e58 (2007).

[PubMed Central]
Journal Article

Kepler, T. B., Crossman, C. & Cook-Deegan, R. Metastasizing patent claims on BRCA1. Genomics 95, 312–4 (2010).

[PubMed Central]
Journal Article

Maurer S.M., Rai A., Sali A. "Finding cures for tropical diseases: Is open source an answer?" PloS Med 2004; 1(3): e56.

[PubMed]
Journal Article

Pohlhaus, J. R. & Cook-Deegan, R. M. Genomics research: world survey of public funding. BMC Genomics 9, 472 (2008).

[PubMed Central]
Journal Article

Kepler, T. B. et al. Open Source Research — the Power of Us. Aust. J. Chem. 59, 291–294 (2006).

[CSIRO Publishing]
Journal Article

So A.D., Rai A.K., Cook-Deegan, R.M. "Intellectual Property Rights and Technology Transfer: Enabling Access for Developing Countries." Commissioned Report for the World Health Organization Commission on Intellectual Property Rights, Innovation, and Public Health. (Under review)

[Full Text]
Journal Article

Taylor, D. H., Cook-Deegan, R. M., Hiraki, S., Roberts, J. S., Blazer, D. G., & Green, R. C. (2010). Genetic testing for Alzheimer’s and long-term care insurance. Health Affairs (Project Hope), 29(1), 102–8. doi:10.1377/hlthaff.2009.0525

[PubMed]
Journal Article

Ginsburg, G. S. (2008). "Genomic Medicine: 'grand challenges' in the translation of genomics to human health." European journal of human genetics : EJHG 16(8): 873-874. [PubMed]

[PubMed Central]
Journal Article

Benjamin, S. & Rai, A. K. Who’s Afraid of the APA? What the Patent System Can Learn From Administrative Law. Georgetown Law J. 95, 270 – 336 (2006).

[Duke Law]
Journal Article
Evans JP . Putting patients before patents. Genet Med, 12 (4):204-5. 2010. [PubMed] Journal Article

Agrist M. (2010) Only connect: personal genomics and the future of American medicine. Mol Diagn Ther, 14(2):67-72.

[PubMed Central]
Journal Article

Padmanabhan, S., Amin, T., Sampat, B., Cook-Deegan, R. & Chandrasekharan, S. Intellectual property, technology transfer and manufacture of low-cost HPV vaccines in India. Nat. Biotechnol. 28, 671–8 (2010).

[PubMed Central]
Journal Article

Angrist M. (2011) You never call, you never write: why return of 'omic' results to research participants is both a good idea and a moral imperative. Per Med, 8(6):651-7

[PubMed Central]
Journal Article
Rai AK . Open and Collaborative Research: A New Model for Biomedicine. In Hahn RW Intellectual Property Rights in Frontier Industries. Washington DC: AEI Press. 131-158. 2005. Book Chapter

Angrist M. (2009) Eyes wide open: the personal genome project, citizen science and veracity in informed consent. Per Med, 6(6): 691-9.

[PubMed Central]
Journal Article
Rai A . “Open and Collaborative” Biomedical Research: Theory and Evidence. In Kahin B, Foray D Advancing Knowledge and The Knowledge Economy. Cambridge, MA: MIT Press. 503. 2006. Book Chapter

Angrist M, Chandrasekharan S, Heaney C, et. al. (2010) Impact of gene patents and licensing practices on access to genetic testing for long QT syndrome. Genetics in Medicine, 12(4 Suppl): S111-54

[PubMed Central]
Journal Article

Rai, A. K. Building a better innovation system: combining facially neutral patent standards with therapeutics regulation. Houst. Law Rev. 45, 1037–1057 (2008).

[PubMed Central]
Journal Article
Beskow LM, Dame L, Costello EJ . Research ethics. Certificates of confidentiality and compelled disclosure of data. Science, 322 (5904):1054-5. 2008. [PubMed Central] Journal Article

Reichman, J. H. Comment: compulsory licensing of patented pharmaceutical inventions: evaluating the options. J. Law, Med. Ethics 37, 247–63 (2009).

[PubMed Central]
Journal Article
Boyle J . The public domain: Enclosing the commons of the mind. New Haven, CT: Yale University Press 333p. 2008. Book

Reichman, J. H. Richard Lillich Memorial Lecture: Nurturing a Transnational System of Innovation j. J. Transnatl. Law Policy 16, 143–166 (2007).

[Duke Law Scholarship]
Journal Article
Chandrasekharan S, Cook-Deegan R . Gene patents and personalized medicine - what lies ahead?. Genome Med, 1 (92):x.2-4. 2009. [PubMed Central] Journal Article

So, A. D. et al. Is Bayh-Dole good for developing countries? Lessons from the US experience. PLoS Biol. 6, e262 (2008).

[PubMed]
Journal Article
Chandrasekharan S, Fiffer M . Impact of gene patents and licensing practices on access to genetic testing for hearing loss. Genet Med, 12 (4 Suppl):S171-93. 2010. [PubMed] Journal Article

Skeehan, K., Heaney, C. & Cook-Deegan, R. Impact of gene patents and licensing practices on access to genetic testing for Alzheimer disease. Genet. Med. 12, S71–82 (2010).

[PubMed]
Journal Article
Chandrasekharan S, Heaney C, James T, Conover C, Cook-Deegan R . Impact of gene patents and licensing practices on access to genetic testing for cystic fibrosis. Genet Med, 12 (4 Suppl):S194-211. 2010. [PubMed] Journal Article

Cook-Deegan, R. and McGeary, M.: In Stevens, R.A., Rosenberg, C.E., and Burns, L.R. (eds.) The Jewel in the Federal Crown? History, Politics, and the National Institutes of Health. Forthcoming in History and Health Policy in the United States: Putting the Past Back In. Rutgers University Press. 2006.

Book Chapter
Chandrasekharan S, Kumar S, Valley CM, Rai A . Proprietary science, open science and the role of patent disclosure: the case of zinc-finger proteins. Nat Biotechnol, 27 (2):140-4. 2009. [PubMed] Journal Article

Feldman MP, A Colaianni and C Liu. Lessons from the Commercialization of the Cohen-Boyer Patents: The Stanford University Licensing Program. In Intellectual Property Management in Health and Agricultural Innovation: A Handbook of best Practices (eds. A Krattiger, RT Mahoney, L Nelsen, et al.). MIHR: Oxford, U.K., and PIPRA: Davis, U.S.A. 2007.

Book Chapter
Charney E, English W . Candidate genes and political behavior. Am Polit Sci Rev, 106 (1):1-34. 2012. Journal Article

Reichman JH. The International Legal Status of Undisclosed Clinical Trial Data: From Private to Public Goods? In Negotiating Health: Intellectual Property and Access to Medicines. Pedro Roffe, Geof Tansey and David Vivas-Eugui, Eds. Earthscan, pp. 133-150. 2006.

Book Chapter
Cook-Deegan R . The science commons in health research: structure, function, and value. J Technol Transf, 32 (3):133-56. 2006. Journal Article

Angrist M., Cook-Deegan R.M. "Who Owns the Genome?" The New Atlantis. Winter 2006: 87-96.

[PubMed]
Journal Article
Cook-Deegan R . Public health. Boosting health services research. Science, 333 (6048):1384-5. 2011. [PubMed] Journal Article

Cook-Deegan R, Dedeurwaerdere T. The Science Commons in Life Science Research: Structure, Function, and Value of Access to Genetic Diversity. International Social Science Journal (UNESCO) 58(188): 299-318. 2006.

Journal Article
Cook-Deegan R, Chandrasekharan S, Angrist M . The dangers of diagnostic monopolies. Nature, 458 (7237):405-6. 2009. [PubMed] Journal Article

Crossman CR. Arming our Enemies: how parallel imports could increase Anti-microbial resistance. North Carolina Journal of International Law & Commercial Regulation, 31(4):823-845. 2006.

Journal Article
Cook-Deegan R, DeRienzo C, Carbone J, Chandrasekharan S, Heaney C, Conover C . Impact of gene patents and licensing practices on access to genetic testing for inherited susceptibility to cancer: comparing breast and ovarian cancers with colon cancers.. Genet Med, 12 (4 Suppl):S15-38. 2010. [PubMed] Journal Article

Kumar S, Rai A. Synthetic Biology: The Intellectual Property Puzzle. Texas Law Review, 85:1745-1768. 2007.

Journal Article
Cook-Deegan R, Heaney C . Gene patents and licensing: case studies prepared for the Secretary's Advisory Committee on Genetics, Health, and Society. Genet Med, 12 (4 Suppl):S1-2. 2010. [PubMed] Journal Article

Rai A. Open and Collaborative? Biomedical Research: Theory and Evidence. In Brian Kahin and Dominique Foray, eds, Advancing Knowledge and the Knowledge Economy. MIT Press. 2006.

Book Chapter
Cook-Deegan R, Heaney C . Patents in genomics and human genetics. Annu Rev Genomics Hum Genet, 11 383-425. 2010. [PubMed] Journal Article

Rai, Reichman, Uhlir, and Crossman. Pathways Across the Valley of Death: Novel Intellectual Property Strategies for Accelerated Drug Discovery. Yale Journal of Health Law, Policy, and Ethics, Vol. 8, No. 1. 2008.

[PubMed]
Journal Article

Caulfield T, Cook-Deegan RM, Kieff FS, Walsh J. Evidence and anecdotes: an analysis of human gene patenting controversies. Nature Biotechnology. 24(9):1091-4. 2006.

[PubMed]
Journal Article
Colaianni A, Chandrasekharan S, Cook-Deegan R . Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease. Genet Med, 12 (4 Suppl):S5-S14. 2010. [PubMed] Journal Article

Reichman JH and T Lewis. Using Liability Rules to Stimulate Local Innovation in Developing Countries: Application to Traditional Knowledge, in International Public Goods and Transfer of Technology Under a Globalized Intellectual Property Regime. Edited by KE Maskus & JH Reichman. Cambridge University Press. Pp. 337-366. 2005.

Book Chapter

Wald P. Blood and Stories: How Genomics is Changing Race, Medicine, and Human History.
Patterns of prejudice: Race and Contemporary Medicine (special issue, ed. Sander Gilman) 40(4/5):303-33. 2006.

[Full Text]
Journal Article
Colaianni A, Cook-Deegan R . Columbia University's Axel patents: technology transfer and implications for the Bayh-Dole Act. Milbank Q, 87 (3):683-715. 2009. [PubMed] Journal Article

Reichman JH, Dinwoodie GB, Samuelson P. A Reverse Notice and Takedown Regime to Enable Public Interest Uses of Technically Protected Copyrighted Works. Berkeley Journal of Technology, 22(1): 1-66. 2007.

[Full Text]
Journal Article

Abbott FM, and Reichman JH. The Doha Round's Public Health Legacy: Strategies for the Production and Diffusion of Patented Medicines under the Amended TRIPS Provisions. Journal of International Economic Law, 10(4):921-987. 2007.

Journal Article
Carbone J, Gold ER, Sampat B, Chandrasekharan S, Knowles L, Angrist M, Cook-Deegan R . DNA patents and diagnostics: not a pretty picture. Nat Biotechnol, 28 (8):784-91. 2010. [PubMed Central] Journal Article
Green RC, Roberts JS, Cupples LA, Relkin NR, Whitehouse PJ, Brown T, Eckert SL, Butson M, Sadovnick AD, Quaid KA, Chen C, Cook-Deegan R, Farrer LA; REVEAL Study Group . Disclosure of APOE genotype for risk of Alzheimer's disease. N Engl J Med, 361 (3):245-54. 2009. [PubMed] Journal Article

Chandrasekharan, S., McGuire, A. L. & Van den Veyver, I. B. Do recent US Supreme Court rulings on patenting of genes and genetic diagnostics affect the practice of genetic screening and diagnosis in prenatal and reproductive care? Prenat. Diagn. 34, 921–6 (2014).

[PubMed]
Journal Article
Charney E, English W . APSA 2012 Annual Meeting Paper. 34p. 2012. Book

Heaney, C. et al. The Perils of Taking Property Too Far. Stanford J. Law, Sci. Policy 1, 46–64 (2009).

[PubMed Central]
Journal Article

Reichman JH and Uhlir P. Trends Affecting Access to Scientific Data from Government Funded Research. In The Global Flow of Information. Jack Balkin and Eddan Katz, eds., NYU Press, 2007.

Book Chapter
Zick CD, Mathews CJ, Roberts JS, Cook-Deegan R, Pokorski RJ, Green RC . Genetic Testing for Alzheimer’s Disease and its Impact on Insurance Purchasing Behavior. Health Aff (Millwood), 24 (2):483-90. 2005. [PubMed Central] Journal Article

Mathews, D. J. H., Cook-Deegan, R. & Bubela, T. Patents and misplaced angst: lessons for translational stem cell research from genomics. Cell Stem Cell 12, 508–12 (2013).

[PubMed Central]
Journal Article

Lewis T, Reichman JH, and So A. The Case for Government Oversight and Government Funding of Clinical Trials. Economist's Voice Berkeley E-Press, Vol. 4, No. 1. 2007.

[FSU Law School]
Journal Article

Rusert, B. M. & Royal, C. D. M. Grassroots marketing in a global era: more lessons from BiDil. J. Law, Med. Ethics 39, 79–90 (2011).

[PubMed Central]
Journal Article
Cook-Deegan R, McGuire AL. . Moving beyond Bermuda: sharing data to build a medical information commons.. Genome Res, 27 (6):897-901. 2017. [PubMed] Journal Article

Lewis T, Reichman JH, and So A. The Case for Government Oversight and Government Funding of Clinical Trials. Economist's Voice. Berkeley E-Press, Vol. 4, No. 1. 2007.

Journal Article

Powell, A., Chandrasekharan, S. & Cook-Deegan, R. Spinocerebellar ataxia: patient and health professional perspectives on whether and how patents affect access to clinical genetic testing. Genet. Med. 12, S83–S110 (2010).

Book Chapter

Magnus, D., Cho, M. K. & Cook-Deegan, R. Direct-to-consumer genetic tests: beyond medical regulation? Genome Med. 1, 3 (2009).

[PubMed Central]
Journal Article

Reichman JH and Dreyfuss RC. Harmonization without Consensus: Critical Reflections on Drafting a Substantive Patent Law Treaty. 57 Duke Law Journal 85. 2007.

[Full Text]
Journal Article

Reichman, J. H. Rethinking the Role of Clinical Trial Data in International Intellectual Property Law: The Case for a Public Goods Approach. Marquette Intellect. Prop. Law Rev. 13, 1–68 (2009).

[PubMed Central]
Journal Article

Kumar, S. The Other Patent Agency: Congressional Regulation of the ITC. Fla. Law Rev. 61, 529–580 (2009).

[PubMed Central]
Journal Article

CORBIE-SMITH, Giselle - Learning About Research in North Carolina (LeARN) [R01 HG002830]

The proposed study, Project LeARN (Learning About Research in North Carolina), will build on a series of well established population based studies of the genetic, environmental and behavioral predictors of colorectal cancer among African American and white cases and controls, the North Carolina Colorectal Cancer Study (NCCCS), to understand participants' views of genetic variation research. Project LEARN contains both a longitudinal component to assess change in beliefs about causality as a result of participation in NCCCS, and a cross-sectional component to examine NCCCS participants' motivations, assessment of positives and negatives and understanding of genetic variation research. The proposed study will survey 832 NCCCS study participants with the following specific aims, to describe: 1) NCCCS participants' perceptions of causality of colorectal cancer and how perceptions of causality of colorectal cancer change after participation in the NCCCS determinants of colorectal cancer interview; 2) what motivates research participants to participate in the NCCCS study; 3) NCCCS participants' perceptions of positives and negatives related to collecting genetic data in epidemiologic research; and 4) how NCCCS research participants understand the purpose of the NCCCS research. All aims will be examined for differences by disease status and race/ethnicity.

Bussey-Jones J, Garrett J, Henderson G, Moloney M, Blumenthal C, Corbie-Smith G . The role of race and trust in tissue/blood donation for genetic research. Genet Med, 12 (2):116-21. 2010. [PubMed] Journal Article

Bussey-Jones, J., et al. (2009). "Asking the right questions: views on genetic variation research among black and white research participants." J Gen Intern Med 24(3): 299-304. [PubMed]

[PubMed]
Journal Article
Corbie-Smith G, Blumenthal C, Henderson GE, Garrett J, Bussey-Jones J, Moloney ME, Sandler RS, Williams Lloyd S, Dorrance J, Darter J . Studying genetic research participants: lessons from the "Learning About Research in North Carolina" study. Cancer Epidemiol Biomarkers Prev, 17 (8):2019-24. 2008. [PubMed] Journal Article

Sterling, R., Henderson, G. E. & Corbie-Smith, G. Public willingness to participate in and public opinions about genetic variation research: a review of the literature. Am. J. Public Health 96, 1971–8 (2006).

[PubMed]
Journal Article

COWAN, Ruth - History of Prenatal Diagnosis [Y01 HG010005]

This project involves the research and writing of a history of modern prenatal diagnosis. Recent scholarly work in the history of science, technology, and medicine will provide the conceptual perspectives for the work. Resources to be used include the professional literatures of medicine, genetic counseling, bioethics, genetics, and medical administration; the popular literature of medical advice to the general public; the literature of the women's health movement; published legal records; archival records; and the secondary literature on the abortion controversy and on the women's movement since 1950. The book which will result from this research will be intended for a general audience of intelligent readers -- and will, hopefully, demonstrate the way in which historical research and analysis can be fruitfully brought to bear in making social and moral decisions.

Cowan, R. "Genetic Technology and Reproductive Choice: An Ethics for Autonomy." In: The Code of Codes: Scientific and Social Issues in the Human Genome Project, eds. D.J. Kevles and L. Hood. Cambridge, MA; Harvard University Press, 1992. 244-264.

Book Chapter

Cowan, R. "Aspects of the History of Prenatal Diagnosis." In: "Reproductive Genetic Testing: Impact upon Women." Fetal Diagnosis and Therapy, eds. Evans, Rothenberg and Thomson. 1993; 8(supplement): 10-17.

[PubMed]
Journal Article

CUTLER, Leona - Advancing Collaborative Genetic Research: Ethical and Policy Challenges [R01 HG005691]

The policies of academic health centers (AHCs) for human subjects protection in the collection, storage, use, and sharing of biospecimens and associated data (i.e., biobanking) will have significant effects on the country's capacity to advance genetic science through collaborative multi-institutional research. Variation in policies for core issues such as informed consent to obtain biospecimens and sharing biospecimens and/or data across institutions can impede or prevent collaborative research. Our preliminary data suggest that this is already occurring. These issues are particularly timely for the NIH's Clinical and Translational Science Awards (CTSA) program, in which AHCs are expected to act as a consortium and collaborate on research. Despite their importance, systematic information on institutional policies is lacking, as is an understanding of the views of key AHC stakeholders about these issues. To address these deficiencies, we propose to: (1) Define the range and variation of policies and practices among CTSA institutions for human subjects protection in biobanking - with emphasis on informed consent and biospecimen/data sharing; (2) Deter- mine the attitudes of stakeholder groups at CTSA institutions (including IRB chairs, CTSA Ethics Directors, investigators) about specific feasible policy options to address barriers to collaboration; and (3) Analyze, through an interdisciplinary process, the ethical and regulatory issues that frame policies on informed consent and sharing biospecimens/datasets across institutions, as well as develop a set of policy recommendations. To accomplish these goals, we will use rigorous analyses of written policies, surveys with structured questionnaires, semi-structured interviews, and an established consensus development process to address specific policy issues on consent and biospecimen/data sharing. Our multidisciplinary research team has complementary strengths. We have an outstanding expert advisory group and robust linkages with CTSA institutions. The preliminary data strongly support the feasibility of our plans; moreover, they suggest substantial inter-institutional policy differences that stakeholders see as barriers to collaboration. The results will be disseminated broadly and include:1) empirically and conceptually based analyses in scholarly journals and 2) practical policy recommendations (developed with the advisory group, CTSA stakeholders, and other authorities) that facilitate ethically sound, collaborative, multi-institutional genetic research. We believe this project will have high impact. It directly addresses an important problem and barrier to progress toward the ultimate goal of using genomic information to improve human health. It responds directly to ELSI priorities and NIH roadmap goals. Moreover, the findings will provide knowledge that improves our capacity to advance multi-institutional studies, and the results are likely to influence concepts and methods in clinical and translational genetic research. PUBLIC HEALTH RELEVANCE: Collaborative multi-institutional genetic research is pivotal to advancing genetic science, and often involves use of biospecimens contributed by human subjects and stored in repositories (biobanks) - but variation in institutions' policies for human subjects protection in biobanking can impede or prevent such research. This project will provide new knowledge on institutional policies and attitudes of key stakeholders, and will provide policy recommendations that facilitate ethically sound advancement of collaborative genetic research. The project therefore addresses an important problem and barrier to progress toward the goal of using genomic information to improve human health.

Rivera SM, Goldenberg A, Rosenthal B, Aungst H, Maschke KJ, Rothwell E, Anderson RA, Botkin J, Joffe S. . Investigator Experiences and Attitudes About Research With Biospecimens.. J Empir Res Hum Res Ethics, 10 (5):449-56. 2015. [SAGE] Journal Article

CWIK, Bryan - Intergenerational Monitoring in Clinical Trials of Germline Gene Editing: Ethical, Legal, and Social Issues [R03 HG010417]

Project Summary The breakneck pace of development towards potential uses of germline gene editing (GGE) in medicine raises some very crucial ethical questions. Though much research still needs to be done before GGE will be safe for use on humans, the technology has progressed very rapidly over the past few years. Among the most pressing of the ethical issues raised by GGE are those concerning human subjects research. Future clinical trials will confront novel ethical conundrums that are difficult to resolve given current guidelines. The most difficult of these conundrums are those concerning intergenerational monitoring “ long-term follow-up study not just of the original subjects, but also of their children and grandchildren. Numerous scientists, advisory panels, and professional associations have stated that such study will be necessary. There is currently little precedent in research ethics for the kind of intergenerational monitoring required here, and no precedent for the specific challenges posed by GGE. If future clinical trials are going to meet requirements of ethical research, the difficult issues raised by intergenerational monitoring must be resolved. This project will make an initial start on designing intergenerational monitoring protocols for future clinical trials of GGE. Drawing on prior work in clinical research ethics and the broader literature on the ethical, social, legal, and philosophical dimensions of GGE, the project will examine this unique set of ethical issues and apply these insights to the design of future clinical trials. The ultimate aim of the project will be to help advance research into the uses of GGE in medicine by dealing with a set of crucial barriers to future applications. In so doing, this project will contribute to the role of NHGRI and the ELSI program in providing leadership and guidance on the ethics of GGE in medicine, and on the potential use of this technology for the treatment of disease and improvement of human life.

Bryan Cwik . Moving Beyond 'Therapy' and 'Enhancement' in the Ethics of Gene Editing. Camb Q Healthc Ethics<br /> , 28 (4):695-707. 2019. [PubMed] Journal Article
Cwik, Bryan . Intergenerational monitoring in clinical trials of germline gene editing. Journal of Medical Ethics, 2019. [PubMed] Journal Article

DALY, Mary - Coping with Genetic Risk for Breast and Ovarian Cancer [R01 HG001189]

This study will examine the efficacy of brief, nurse-delivered counseling intervention, Stress Inoculation Therapy (SIT), on the enhancement of psychological adjustment to the receipt of genetic cancer risk information, on the improvement of comprehension of genetic risk, and on the promotion of adherence to follow-up prevention recommendations. In addition, we will assess how coping style disposition moderates the effects of the intervention. Outcome measures will include both general psychological adjustment as well as risk-specific distress. The availability of DNA markers for the BRCA1 gene will allow us to compare risk assignment based on clinical parameter with that provided by genetic testing to determine if family history can serve as a tool to select appropriate candidates for genetic screening in the future. The proposed study provides a unique opportunity to develop and test among women of different socioeconomic and ethnic groups a relatively brief psychoeducational counseling intervention which could have a significant public health impact on cancer control.

Fang CY, Miller SM, Mills M, Mangan CE, Belch R, Campbell DE, Douglas SD . The effects of avoidance on cytotoxic/suppressor T cells in women with cervical lesions.. Psychooncology, 12 (6):590-8. 2003. [PubMed] Journal Article

Shoda, Y. et al. Psychological Interventions and Genetic Testing: Facilitating Informed Decisions About BRCA1/2 Cancer Susceptibility. J. Clin. Psychol. Med. Settings 5, 3–17 (1998).

[ResearchGate]
Journal Article
Fang CY, Miller SM, Daly MB, Hurley K . The Influence of Attentional Style and Risk Perceptions on Intentions to Undergo Prophylactic Oophorectomy Among First-Degree Relatives. Psychol Health, 17 (3):365-76. 2002. [Full Text] Journal Article

Daly, M., J. Farmer, C. Harrop-Stein et al. "Exploring Family Relationships in Cancer Risk Counseling Using the Genogram." Cancer Epidemiology, Biomarkers & Prevention Special Issue. April 1999; 8(4): 393-398. [Pubmed]

[Pubmed]
Journal Article

Miller, S. M., Fang, C. Y., Manne, S. L., Engstrom, P. F. & Daly, M. B. Decision making about prophylactic oophorectomy among at-risk women: psychological influences and implications. Gynecol. Oncol. 75, 406–12 (1999).

[Science Direct]
Journal Article

DAVIS, John - Concerns of Evangelicals about Genetic Interventions [R03 HG002413]

The objective of this proposed historical and analytical study is to identify the major ethical concerns of Evangelical (&#039;Born Again&#039;) Protestant Christians in the United States relative to genetic research and the Human Genome Project during the time period 1956 to the present. The method employed will be a content analysis of books and articles published by Evangelical authors, at both the scholarly and popular levels, with special concern for keywords such as &#039;genetics&#039;, &#039;genetic engineering&#039; &#039;genetic testing/screening&#039;, &#039;gene/genetic therapy&#039;, &#039;cloning&#039;, and &#039;Human Genome Project.&#039; The scope of the data set to be examined will be defined by the indexing of the books and periodicals in question by the ATLA (American Theological Library Association) Religion Database on CD-ROM, including Religion Index One: Periodicals. The value and health relatedness of this study will be to assist scientific researchers to more effectively interpret and communicate new findings in genetics to Evangelical Protestants and other religious communities, so as to maintain and enhance public support for research in these areas.

John J. Davis "Ethical Concerns of American Evangelicals Relative to Genetic Interventions." Ethics and Medicine (Accepted for publication).

[PubMed]
Journal Article

DE VRIES, Raymond G - Public Preferences for Addressing Donors Moral Concerns about Biobank Research [R01 HG007172]

With the growing importance of biobank research, concerns have been raised about how to protect the interests of donors. The current ethics framework mainly focuses on protecting against risks to donors&#039; welfare and to their privacy. However, there has been little systematic empirical, normative, or policy focus on the non-welfare interests of donors, i.e., concerns about the moral, societal, or religious implications of research using their donation that may affect their willingness to donate. Although important theoretical discussions, mentions in commission reports, and insights from several qualitative studies have drawn attention to the serious nature of these interests, we lack important data for policy development: (1) systematic data on the nature and extent of potential impact of non-welfare interests and (2) high quality (i.e., informed and considered) policy preferences of the public addressing how to balance these non-welfare interests with the promise of biobank research. Our project will fill these gaps with two complementary projects. First, a national survey will assess the contours of the potential impact of non-welfare interests on biobank research, by addressing: what kinds of non-welfare interests substantially affect willingness to donate biological materials?; how common are these interests?; how much do donors want to know about the potential involvement of such non-welfare interests when donating?; how are non-welfare interests affected by such factors as race or ethnicity, socioeconomic status, trust in medical research, religious beliefs and practice, or political orientation? Second, we will obtain considered, informed judgments of the public regarding how to handle the tension between the public good of biobanks and the conflicting non-welfare interests of potential donors, using a democratic deliberation method in which subjects will attend an all-day education and peer deliberation session. The impact of the deliberation will be validated using a randomized, experimental design. In summary, despite the ethical significance of non-welfare interests for biobank research, there is a paucity of systematic data regarding both their potential impact and the potential policy solutions. This project will provide a highly generalizable assessment of the potential impact of non-welfare interests as well as policy recommendations based on informed, deliberative opinions of the general public. PUBLIC HEALTH RELEVANCE: The ethical discussions surrounding how to protect the donors of biobank research have focused mostly on reducing harms and respecting privacy interests of donors. There has been little focus on the ethical and policy significance of the non-welfare related interests of individual donors, i.e., individual concerns about the moral, societal or religious implications of research using their donation. This project will provide a systematic, generalizable assessment of the potential impact of non-welfare interests as well as policy recommendations based on informed, deliberative preferences of the general public.

Tomlinson, T. et al. Moral concerns and the willingness to donate to a research biobank. JAMA 313, 417–9 (2015).

[PubMed]
Journal Article
De Vries RG, Tomlinson T, Kim HM, Krenz CD, Ryan KA, Lehpamer N, Kim SY . The moral concerns of biobank donors: the effect of non-welfare interests on willingness to donate.. Life Sci Soc Policy, 12 3. 2016. [Springer] Journal Article

DESNICK, Robert - Genetic Testing in the Ashkenazi Jewish Population [R01 HG000644]

The objective of this research is to conduct and evaluate a pilot program for the simultaneous screening of carriers for CF, Tay Sachs Disease (TSD) and Gaucher&#039;s Disease (GD) in the Ashkenazi Jewish population. This ethnic group is unique since 95 percent of CF and GD carriers can be detected, providing the rationale to introduce CF and GD screening in conjunction with TSD carrier screening programs. This pilot study will address issues of education, improved and cost effective test methods, effective counseling and potential psychologic harm, as well as ethical and health policy considerations. 10,000 Ashkenazi Jewish participants (about 5,000 couples) will be recruited for the study. Comparison of screening for these diseases will permit identification of screening issues related to differences in disease severity, availability of treatment, and detection accuracy for carrier couples.

Eng CM, Desnick RJ . Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases. Adv Genet, 44 275-96. 2001. [PubMed] Journal Article

Eng, C.M., C. Schechter, Robinowitz et al. "Prenatal Genetic Carrier Testing Using Triple Disease Screening." JAMA. October 1997; 278(15): 1268-1272.

Journal Article

DRESSER, Rebecca - Germ Line Interventions and Human Research Ethics [R01 HG002493]

Developments in transgenic animal research, together with the limited success of gene transfers targeting human somatic cells, have triggered renewed interest in research on germ line interventions in humans. Debates over modifying the human germ line tend to focus on the long-term consequences to society. Comparatively little attention is paid to the human research that will be necessary to establish that genetic interventions are safe and effective. The aim of this project is to apply U.S. policies governing research involving human participants - and the ethical principles underlying such policies - to studies of germ line interventions. In the project, a Core Group of experts in genetics and research ethics and policy will consider how policy provisions and ethical principles would bear on research proposals to alter the genome of a human embryo when the goal is to allow that embryo to develop into a child. The Core Group will receive information and guidance from scientific consultants with expertise in human and animal genetics. Project participants will prepare materials to inform investigators, local and national oversight bodies, and the interested public about the ethical and policy complexities of conducting research altering the genotype of human embryos. Project participants will also: (1) develop guidelines for applying federal policy governing research involving human subjects to germ line studies; and (2) consider additional rules and procedures that may be warranted to ensure that subjects are adequately protected in the research process. The project will yield two manuscripts, one aimed at a general audience and a more detailed monograph for groups asked to evaluate the ethical and regulatory acceptability of proposals to conduct germ line research in humans.

Dresser R. "Designing Babies: Human Research Issues," IRB: Ethics & Human Research. 2004; 26:1-8.

[PubMed]
Journal Article

Dresser R. "Genetic Modification of Preimplantation Embryos: Toward Adequate Human Research Policies." Milbank Quarterly. 2004; 82:195-214.

[PubMed]
Journal Article

DUSTER, Troy - Pathways to Genetic Screening: Patient Knowledge - Patient Practices [Y01 HG200005]

The purpose of this project is to illuminate the processes by which genetic screening and genetic concepts of health and illness penetrate two contrasting communities and become integrated into the health concerns of high-risk families. The goal is to clarify the cultural frames used to process new genetic information and to explore both barriers and bridges to successful genetic interventions. High risk young men and women in their reproductive years will be studied. Those who have used genetic services will be compared with those who have not. The social networks and extended family members of those whose lives have been touched by the targeted genetic disorders will be examined. The project will also focus on issues of privacy, stigma, and discrimination identified in earlier research and their management within family and institutional networks. The understandings, interest, and responses will be analyzed in two cultural contexts; one in which the disorder is generally recognized as race-linked, and the other in which this association is not part of the popular consciousness. This will contribute to culturally sensitive genetic screening and counseling.

Duster, T., "Depistage Genetique et Resurgence de L'Eugenisme," Rev Quad, Spring 1994, 167-82.

[Full Text]
Journal Article

Duster, T. "The Hidden History of Scientific Racism," Crossroads February 1995; 48: 14-19.

Journal Article

Yamashita, R.C. "Bringing Disease Back In: Provisional Models and Implications for Future Research," Sociol Health Care 1997; 14.

Book Chapter

Duster, T. "Persistence and Continuity in Human Genetics and Social Stratification," pp. 218-38 in Genetics: Issues of Social Justice, Ted Peters, Ed. Cleveland; Pilgrim Press, 1998.

Book Chapter

Ragins, A. I. Why self-care fails: Implementing policy at a low-income sickle cell clinic. Qual. Sociol. 18, 331–356 (1995).

[SpringerLink]
Journal Article

Beeson, D. and T. Doksum, "Family Values and Resistance to Genetic Testing," Chapter 9 in Bioethics in Context, Barry Hoffmaster, Ed. Cambridge University Press, 1999.

Book Chapter

Duster, T. "Human Genetics, Evolutionary Theory, and Social Stratification." In: The Genetic Frontier: Ethics, Law and Policy, eds. M.S. Frankel and A. Teich. Washington, DC: AAAS; 1993, 209-247.

Book Chapter

Duster, T. "The Prism of Heritability and the Sociology of Knowledge," pp. 119-30 in Naked Science: Anthropological Inquiry into Boundaries, Power, and Knowledge, Laura Nader, Ed. New York; Routledge Press, 1996.

Book Chapter

Duster, T. "Molecular Halos and Behavioral Glows," pp. 215-22 in Plain Talk About the Human Genome Project, Edward Smith and Walter Sapp, Eds. Tuskegee, Alabama; Tuskegee University, 1997.

Book Chapter

Displaying 601 - 700 of 1985 publications.

Last updated: January 24, 2019