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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.

GRODY, Wayne - Cystic Fibrosis Mutation Screening and Counseling [R01 HD029337]

Women of reproductive age and the partners of those who test positive will be screened for CF mutations by new methods of rapid DNA analysis in this pilot study. The target population includes large numbers of Hispanic and Asian Americans, two groups which have not been studied extensively for either their CF mutation frequencies or their response to testing and counseling. Pre and post-test questionnaires will be used to determine level of understanding of CF, predictors of consent to testing, and emotional responses to implications of the test results in the various ethnic and socioeconomic subgroups. Strategies of pre-and post-test counseling will be compared for their effectiveness.

Grody, W. et al. "PCR-Based Cystic Fibrosis (CF) Carrier Screening in a First-Year Medical Student Biochemistry Laboratory." American Journal of Human Genetics. 1993; 53: 1352-1355.

[PubMed]
Journal Article

Grody, W. et al. "PCR-Based Screening for Cystic Fibrosis Carrier Mutations in an Ethnically Diverse Pregnant Population." American Journal of Human Genetics. 1997; 60: 935-947.

[PubMed]
Journal Article

Grody, W. Cystic Fibrosis. (Education videotape on cystic fibrosis testing--English/Spanish). Los Angeles: The UCLA Cystic Fibrosis Project, 1992.

Video

Wackym, P. A., Kerner, M. M., & Grody, W. W. (1998). Molecular temporal bone pathology: III. Genotyping of the deltaF508 deletion in the DNA of patients with cystic fibrosis. The Laryngoscope, 108(8 Pt 2 Suppl 88), 1–3. Retrieved from http://onlinelibrary.wiley.com/doi/10.1097/00005537-199808001-00001/full

[PubMed]
Journal Article

Venegas, P. B., Novak, J. M., Oscar, C. A., Sánchez, F. L., Gutiérrez, I. G., Rivera, J. M., … Grody, W. W. (2003). Cystic fibrosis mutations in Costa Rica. Human Biology, 75(2), 179–88. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12943157

[PubMed]
Journal Article

Tatsugawa, Z. H., Fox, M. A., Fang, C. Y., Novak, J. M., Cantor, R. M., Bass, H. N., … Grody, W. W. (1994). Education and testing strategy for large-scale cystic fibrosis carrier screening. Journal of Genetic Counseling, 3(4), 279–289. doi:10.1007/BF01412373

[Full Text]
Journal Article

Abstracts of papers presented at the eleventh annual education conference. J. Genet. Couns. 1, 309–343 (1992).

[Springer Link]
Journal Article

GUERRINI, Christi - Ownership Interests in Research Outputs of Genomic Citizen Science Initiatives [K01 HG009355]

PROJECT SUMMARY/ABSTRACT Ms. Christi Guerrini is research faculty in the Center for Medical Ethics and Health Policy at Baylor College of Medicine (BCM). BCM is a premier academic health science center known for excellence in education, research, and patient care. The BCM main campus is located in the Texas Medical Center, which is the largest medical center in the world. The Center for Medical Ethics and Health Policy at BCM was established in 1982 and has created an academic culture defined by and supportive of collaborative research and teaching. Supported by NIH, PCORI, NEH, the Greenwall Foundation, the Milbank Memorial Fund, the Ford Foundation, and other private foundations, the Center's faculty have engaged in collaborative research that has resulted in more than 550 publications in the peer-reviewed literature, 150 chapters in medical and scientific textbooks, 100 chapters in scholarly monographs, and 35 edited or authored books. Ms. Guerrini is a graduate of Harvard Law School (JD 2001) and the University of Virginia (BA 1998), and she is currently a graduate student at University of Texas School of Public Health (MPH expected 2016). She was a practicing intellectual property attorney before transitioning to academia and has served as a full-time instructor in law schools in New York and Chicago. Ms. Guerrini recently completed an intellectual property fellowship at Chicago-Kent College of Law. She has published in academic law journals and this spring will have additional articles published in the peer-reviewed literature. Ms. Guerrini has served as an invited presenter or moderator at multiple legal conferences and colloquia, including the Supreme Court Intellectual Property Review, PatCon, the Law and Society Association Annual Meeting, the Chicago Intellectual Property Colloquium, and the Licensing Executives Society (US & Canada) Annual Meeting. Although Ms. Guerrini's academic and professional experiences to date have provided her a solid foundation in normative analysis and empirical methods, she will benefit from additional training to achieve her long-term career goals. These goals include becoming (1) an independent investigator and leader in the study of ELSI issues related to emerging models of biomedical research and (2) an expert in the conduct of qualitative and experimental studies to collect data that will inform health policies. To achieve these goals, Ms. Guerrini has proposed focused training in the following areas: theoretical and applied ethics; qualitative research design and data analysis; and conjoint analysis design and data analysis. The proposed plan also includes advanced instruction in genomics. The training will consist of formal coursework in ethics and genomics at Baylor College of Medicine and formal coursework in qualitative methodology and statistics at University of Texas School of Public Health, in addition to intensive training in conjoint analysis methodology at Johns Hopkins Bloomberg School of Public Health. This coursework and the proposed research will be conducted under the guidance of primary mentor Dr. Amy L. McGuire of BCM and co-mentors Dr. Sheryl A. McCurdy of University of Texas School of Public Health and Dr. John F.P. Bridges of Johns Hopkins Bloomberg School of Public Health. In addition, Dr. Richard Gibbs of BCM and Ms. Sharon Terry of Genetic Alliance will advise on the project as needed. The proposed research concerns the question of ownership claims and interests in the outputs of genomic research conducted in a collaborative ?citizen science? context. The internet is providing opportunities for citizen scientists to participate in the design and conduct of studies, and these initiatives are increasingly prevalent in the field of genomics, where web-based portals are collecting genetic sequencing data and connecting individuals to genomic studies requesting varying levels of involvement. It is unclear, however, whether genomic citizen scientists have legitimate claims to the outputs of that research?i.e., the findings, written products, and discoveries that are the results of the studies that they support. This research will identify gaps in practice, policy, principles, and preferences relevant to ownership interests in genomic citizen science outputs to provide a normative and empirical foundation from which to develop best practices and policies that will promote public trust and engagement in biomedical research.

Guerrini, C. J., et al. (2018). "Citizen science, public policy." Science 361(6398): 134-136. 

 

[PubMed Central]
Journal Article

HADDOW, Paula - Update and Dramatization of a Genetics Curriculum [R25 HG001110]

In 1987 the Education Division of the Foundation for Blood Research developed, field tested, and distributed a human genetics curriculum unit for high school biology classes. The unit, titled 'Chances' Choices', is a free-standing interactive unit currently being used on an ongoing basis by at least 280 biology teachers and 15,000 students (annually) throughout the country. This project, in response to rapid advances in the field of human genetics, will revise, update and add to 'Chances' Choices'. The project will also develop an experimental theater component which will extend the human genetics information and issues to include middle school students and high school students other than those in biology classes. The first year of this 26 month project is to be devoted to updating the curriculum unit and to adding information on such current topics as DNA testing, the human genome project, gene therapy, insurance coverage issues, job security, confidentiality of laboratory test results and other information, and the genetics of cancer. During the second year, the updated and revised materials will be field tested by biology teachers and students in each of the 10 genetics regions in the United States. Also the pilot experimental theater component will be designed and tested in selected high schools. The results of the experimental theater pilot will be submitted for publication. Assuming only minimal distribution of the updated version of 'Chances' Choices' to teachers already using it, the proposed project has the potential to reach 280 teachers and at least 15,000 students yearly.

Kloza, E. M. & Haddow, P. K. Chances’ Choices. 208 (Foundation for Blood Research, 1997). at

Book

HAGA, Susanne B. - Pharmacogenetic Testing: Challenges of Clinical Integration [R01 GM081416]

Pharmacogenetic testing is considered one of the most promising clinical applications arising from genomics research, with the potential to reduce adverse drug responses and improve efficacy of drug treatment. Because pharmacogenetic tests address a specific question about drug therapy, they have generally been viewed as having fewer ethical and social implications than other types of genetic testing. Yet some policy concerns will need to be addressed before pharmacogenetic tests can be introduced appropriately into clinical practice. A key concern is the potential for pharmacogenetic tests to generate ancillary clinical information unrelated to the drug treatment question for which testing is done - an informational 'side effect.' The ancillary information generated by pharmacogenetic tests is variable, and may include information about disease predispositions, prognosis, and drug responses other than those for which testing is performed. For example, testing for statin response might reveal information about risk of Alzheimer's disease or macular degeneration. These issues raise several questions: What would a reasonable person want to know about the scope of testing and access to test results? Should information about other potential uses of a test result be made available to the patient? Which health care professionals should routinely have access to pharmacogenetic results? This project will explore these policy challenges through the following specific aims: 1) determine the legal obligations of health professionals with respect to sharing of pharmacogenetic information and disclosure of ancillary clinical information; 2 &3) assess attitudes of the public and health professionals toward disclosure of different types of ancillary information related to pharmacogenetic testing and related issues of informed consent, counseling, and sharing of pharmacogenetic information among health professionals through focus groups and surveys, and 4) develop a stakeholder consensus regarding appropriate policies for counseling, informed consent and disclosure of ancillary information related to pharmacogenetic testing. PUBLIC HEALTH RELEVANCE - The results of this study will help to ensure the appropriate clinical integration of pharmacogenetic testing, and inform related issues arising with the increasing use of genetic testing for the general population, including risk communication and the appropriate roles of health professionals as we enter the era of genomic medicine in the US.  This study will also help inform determinations of whether new health infrastructures for pharmacogenetics are required beyond current systems for successful population-wide integration. 

Haga, S. B., O’Daniel, J. M., Tindall, G. M., Lipkus, I. R. & Agans, R. Survey of US public attitudes toward pharmacogenetic testing. Pharmacogenomics J. 12, 197–204 (2012).

[PubMed Central]
Journal Article

Haga, S. B., O’Daniel, J. M., Tindall, G. M., Lipkus, I. R. & Agans, R. Public attitudes toward ancillary information revealed by pharmacogenetic testing under limited information conditions. Genet. Med. 13, 723–8 (2011).

[PubMed Central]
Journal Article

Haga, S. B. et al. Survey of genetic counselors and clinical geneticists’ use and attitudes toward pharmacogenetic testing. Clin. Genet. 82, 115–20 (2012).

[PubMed]
Journal Article

Haga, S. B., Burke, W., Ginsburg, G. S., Mills, R. & Agans, R. Primary care physicians’ knowledge of and experience with pharmacogenetic testing. Clin. Genet. 82, 388–94 (2012).

[PubMed]
Journal Article

Haga, S. B. & Burke, W. Practical ethics: establishing a pathway to benefit for complex pharmacogenomic tests. Clin. Pharmacol. Ther. 90, 25–7 (2011).

[PubMed Central]
Journal Article

Haga, S. B., Tindall, G. & O’Daniel, J. M. Public perspectives about pharmacogenetic testing and managing ancillary findings. Genet. Test. Mol. Biomarkers 16, 193–7 (2012).

[PubMed Central]
Journal Article

Haga, S. B., Tindall, G. & O’Daniel, J. M. Professional perspectives about pharmacogenetic testing and managing ancillary findings. Genet. Test. Mol. Biomarkers 16, 21–4 (2012).

[PubMed Central]
Journal Article

Clayton, E. W. et al. Managing incidental genomic findings: legal obligations of clinicians. Genet. Med. 15, 624–9 (2013).

[PubMed Central]
Journal Article

Moaddeb, J. & Haga, S. B. Pharmacogenetic testing: current evidence of clinical utility. Ther. Adv. Drug Saf. (2013). doi:10.1177/2042098613485595

[Sage Journals]
Journal Article

Haga, S. B., Kawamoto, K., Agans, R. & Ginsburg, G. S. Consideration of patient preferences and challenges in storage and access of pharmacogenetic test results. Genet. Med. 13, 887–90 (2011).

[PubMed]
Journal Article

HALL, Mark - Effects of Restricting Insurers' Use of Genetic Info [R01 HG001662]

About a dozen states have enacted laws restricting health insurers' use of genetic test information, and a new federal law declares that asymptomatic genetic predisposition to illness does not constitute a pre-existing condition. This project will evaluate the effects of these laws in 6 states using a qualitative, comparative, case study methodology. Three states with laws restricting insurers' use of genetic information will be matched with 3 comparable states that lack these laws. This multiple case study will consist of a mix of qualitative and quantitative data sources and analytical methods: (1) structured, in-depth, open-ended interviews of key informants by expert interviewers, (2) participant observational studies of insurance agents, (3) content analysis of sales literature and news articles, and (4) statistical analyses of archival documents and secondary data. The primary interview subjects will be health insurers, insurance regulators, insurance agents, patient advocacy groups, and clinicians. The results of this investigation will inform lawmakers, purchasers, and the public policy community whether and how these laws have achieved their intended purposes or caused any negative consequences, and how these laws might be strengthened or improved.

Hall, M.A. "When Genes are Decoded, Who Should See the Results." New York Times. February 29, 2000, at D7.

Journal Article

Hall, M.A. "Restricting Insurers' Use of Genetic Information: A Guide to Public Policy." N. Am. Actuarial Journal. January 1999; 3(1).

Journal Article

Mark A. Hall and Stephen S. Rich, "Genetic Privacy Laws and Patients' Fear of Discrimination by Health Insurers: The View from Genetic Counselors." Journal of Law, Medicine & Ethics. 2001; 28(3): 245-57.

[PubMed]
Journal Article

Hall, M.A. "Legal Rules and Industry Norms: The Impact of Laws Restricting Health Insurers' Use of Genetic Information." Jurimetrics. 1999; 40: 93-122.

Journal Article

Hall, M. A. & Rich, S. S. Patients’ fear of genetic discrimination by health insurers: the impact of legal protection. Genet. Med. 2, 214–221 (2000).

[PubMed]
Journal Article

Hall, M. A. Restricting Insurers’ Use of Genetic Information. North Am. Actuar. J. 3, 34–46 (1999).

[Taylor & Francis Online]
Journal Article

Hall, M. A. & Rich, S. S. Laws restricting health insurers’ use of genetic information: impact on genetic discrimination. Am. J. Hum. Genet. 66, 293–307 (2000).

[PubMed Central]
Journal Article

HAMILTON, Rebekah - Decision Making in Young Women at Risk for HBOC [R03 NR009483]

Young women with a positive BRCA1 and/or BRCA2 mutation test face a potentially deadly genetic legacy at a developmental critical time in their lives. After learning they are at a high risk for hereditary breast and ovarian cancer (HBOC) these women <35 years old must make decisions about their health care. Little is known about health behavior decision making in this specific population. The study sample will consist of 35-45 women between the ages of 18-35 years. This age group comprises the adult population of women identified in the breast cancer literature as "young" and having unique characteristics within the population of women with breast cancer. The purpose of this study is to increase our understanding of the health behavior decision making of young women who discover they are at high risk for HBOC. This study will describe how receiving genetic risk information affects decisions about actual health behaviors. The specific aims of the study are to: 1) To describe patterns of decision making about health behaviors in women <35 years in response to a positive or ambiguous genetic test result; and 2) To describe influences associated with health behavior decision making that are most salient to young women at risk for HBOC. A preliminary study with a subset of young women with a positive BRCA mutation test identified issues related to relationships, reproduction, a lack of treatment information specific to this age group and feelings of being different from peers. Grounded theory method will be used to increase understanding of health behavior decision making. Data will be collected in one to two semi-structured interviews with each participant and will be analyzed using the constant comparative method. Descriptions of patterns of decision making and influences associated with particular health behavior decisions will be based on the research participants' experiences. Increased understanding of the complexities of health behavior decision making in this specific population will be the first step in a research program to develop psychosocial interventions directed at young women at risk for HBOC.

Hamilton, R., Williams, J. K., Bowers, B. J. & Calzone, K. Life trajectories, genetic testing, and risk reduction decisions in 18-39 year old women at risk for hereditary breast and ovarian cancer. J. Genet. Couns. 18, 147–59 (2009).

[PubMed Central]
Journal Article

Hamilton, R. & Kopin, S. Theory Development From Studies With Young Women With Breast Cancer Who Are BRCA Mutation Negative. Adv. Nurs. Sci. 36, E41–E53 (2013).

[Lippincott Williams & Wilkins]
Journal Article

Hamilton, R. & Hurley, K. E. Conditions and consequences of a BRCA mutation in young, single women of childbearing age. Oncol. Nurs. Forum 37, 627–34 (2010).

[PubMed]
Journal Article

Hamilton, R. Nursing advocacy in a postgenomic age. Nurs. Clin. North Am. 44, 435–46 (2009).

[PubMed Central]
Journal Article

Hamilton, R. Genetics: breast cancer as an exemplar. Nurs. Clin. North Am. 44, 327–38 (2009).

[PubMed Central]
Journal Article

HAMMOND, Keith - National Institute of Diabetes and Digestive and Kidney Diseases 4th International Conference on Newborn Screening for C.F. [R13 DK043295]

The proposed International Meeting on Newborn Screening for Cystic Fibrosis is designed to provide current information on neonatal screening for Cystic Fibrosis (CF) to physicians (pediatric pulmonologists, gastroenterologists, pathologists, geneticists), State Health Department laboratory personnel, nutritionists and clinical psychologists. Investigators from the United States and several other countries will be invited to present their clinical and laboratory experience in CF screening. Such a meeting is considered timely, since the recent discovery of the CF gene may provide a new technique for screening and diagnosis, and its potential for improving the neonatal screening process is under active investigation at several centers around the world. The gene discovery and its implications for neonatal screening will be a major focus of this meeting. The ethical issues surrounding newborn carrier detection will also be discussed. This conference should be valuable to policy makers who wish to determine whether or not newborn screening for this disease should be widely implemented in the United States. The proceedings will be published as a supplement to 'Pediatric Pulmonology'.

Newborn screening for cystic fibrosis. Proceedings from IVth International Conference, October 8-9, 1990, Colorado, USA. Pediatr. Pulmonol. Suppl. 7, 1–92 (1991)

[PubMed]
Journal Article

HARRIS, Paul A. - The Electronic Medical Records and Genomics (eMERGE) Network Phase III - Coordinating Center [U01 HG008701]

The eMERGE project brings together researchers with a wide range of expertise in genomics, statistics, ethics, informatics, and clinical medicine from leading medical research institutions across the country to conduct research in genomics, including discovery, clinical implementation and public resources. The primary goal of eMERGE is to develop, disseminate, and apply approaches to research that combine biorepositories with electronic medical record (EMR) systems for genomic discovery and genomic medicine implementation research. In addition, the consortium includes a focus on social and ethical issues such as privacy, confidentiality, and interactions with the broader community. eMERGE website: https://www.genome.gov/27540473/electronic-medical-records-and-genomics…

Laurino MY, Truitt AR, Tenney L, Fisher D, Lindor NM, Veenstra D, Jarvik GP, Newcomb PA, Fullerton SM. . Clinical verification of genetic results returned to research participants: findings from a Colon Cancer Family Registry.. Mol Genet Gneomic Med, 5 (6):700-708. 2017. [PubMed] Journal Article
Hripcsak G, Mirhaji P, Low AF, Malin BA. . Preserving temporal relations in clinical data while maintaining privacy.. J Am Med Inform Assoc, 23 (6):1040-1045. 2016. [PubMed] Journal Article
Brothers KB, Holm IA, Childerhose JE, Antommaria AH, Bernhardt BA, Clayton EW, Gelb BD, Joffe S, Lynch JA, McCormick JB, McCullough LB, Parsons DW, Sundaresan AS, Wolf WA, Yu JH, Wilfond BS . When Participants in Genomic Research Grow Up: Contact and Consent at the Age of Majority.. J Pediatr, 168 226-31. 2016. [ScienceDirect] Journal Article

HEATH, Deborah - Mapping Genetic Knowledge: An Anthropological Study [R01 HG001582]

This is a comparative anthropological analysis of the social networks associated with three groups of heritable connective tissue disorders: 1) Marfan syndrome, epidermolysis bullosa and chondrodysplasias. Using participant observation and interviews, the study will investigate the production and circulation of genetic knowledge among three interrelated constituencies: 1) laboratory researchers; 2) clinicians; and 3) lay support groups. The project aims to identify and describe institutions, events, and practices that facilitate or impede knowledge transfer among members of these groups. The project will also examine contrasts in 1) phenotypes and phenotypic variability; 2) pathogenesis; and 3) emerging approaches to diagnosis and therapy for each of these disease groups, first, as they are clinically and scientifically defined, and then, as they influence the social experiences and identity formation of affected individuals. This study will encourage and facilitate public education through documenting achievements in, and illustrating barriers to, the effective dissemination of new genetic knowledge. Finally, the project will train a new group of anthropologists to conduct future multi-site fieldwork on genetics and its social contexts.

Heath D. (1998) "Locating Genetic Knowledge: Picturing Marfan Syndrome and Its Traveling Constituencies." Science, Technology and Human Values. 23:1.

Journal Article

Heath, D., Koch, E., Ley, B. & Montoya, M. Nodes and Queries: Linking Locations in Networked Fields of Inquiry. Am. Behav. Sci. 43, 450–463 (1999).

[Sage Journals]
Journal Article

Taussig K.S., Rapp R., Health D. (2003) "Flexible Eugenics." In A. Goodman, D. Health and S. Lindee, eds. Genetic Nature/Culture: Anthropology and Science Across the Two Culture Divide. Berkeley CA: University of California Press.

Book Chapter
Taussig K, Heath D, Rapp R . Genealogical Dis-Ease: Where Hereditary Abnormality Biomedical Explanation, and Family Responsibility Meet. In McKinnon S, Franklin SB Relative Values: Reconfiguring Kinship Studies. Durham, NC: Duke University Press. 536. 2002. Book Chapter

Rapp, R. Gender, body, biomedicine: how some feminist concerns dragged reproduction to the center of social theory. Med. Anthropol. Q. 15, 466–77 (2001).

[PubMed]
Journal Article
Taussig K, Rapp R, Heath D . Genetic Nature/Culture: Anthropology and Science Beyond the Two-Culture Divide. Berkeley, CA: University of California Press 328. 2003. Book
Martin E, Oaks L, Taussig K-S, van der Straten A . Bodies, Antibodies and Modest Interventions: Works of Art in the Age of Cyborgian Reproduction. In Downey GL, Dumit J Cyborgs & Citadels: Anthropological Interventions in Emerging Sciences and Technologies (School of American Research Advanced Seminar Series). Sante Fe, NM: School of American Research. 328. 1998. Book Chapter

HENDERSON, Gail - Social Construction of Benefit in Gene Transfer Research [R01 HG002087]

The purpose of this study is to determine how the prospect of direct benefit to research subjects in gene transfer research (GTR) (usually called 'gene therapy') is understood and discussed by research subjects, investigators, study coordinators, and IRBs, and explained in consent forms. The research team expects to find that the prospect of benefit from receiving the investigational intervention is often exaggerated and that this exaggeration of benefit is accompanied by language confusion in consent forms, blending of the roles of physician and researcher, and other aspects of the review of research and the consent process. To investigate these issues, the researchers will interview investigators, study coordinators, and subjects in up to 40 recent GTR studies, to analyze consent forms and protocols for all GTR studies approved since 1990 (N=about 275), and to interview IRBs at institutions overseeing the 40 studies. They will develop a model that explains the variation in participants' understanding and discussion of benefit from GTR interventions, controlling for contextual factors, within and between these studies. They will separately assess variation in understanding and discussion of benefit in consent forms and by IRBs. The researchers hope to discover some ways of reducing the tendency toward exaggeration of benefit by careful attention to language in the consent form process, by education of investigators and IRB members, and by consideration of research. Based on these findings, the researchers hope to develop an improved policy standard for the presentation of benefit in GTR specifically and clinical research generally.

Davis AM, Hull SC , Grady C. et al. "The Invisible Hand in Clinical Research: The Study Coordinator's Critical Role in Human Subjects Protection." Journal of Law, Medicine & Ethics, vol. 30, no. 3 (Fall 2002): 411-419.

[PubMed]
Journal Article

King NMP, Henderson GE , Churchill LR et al. "Consent Forms and the Therapeutic Misconception: The Example of Gene Transfer Research." IRB: Ethics and Human Research [PubMed].

[PubMed]
Journal Article

Churchill LR., Nelson DK, Henderson GE et al. "Assessing Benefits in
Clinical Research: Why Diversity in Benefit Assessment Can Be Risky."
IRB: Ethics and Human Research, vol. 25, no. 3 (2003): 1-8.

[PubMed]
Journal Article

Henderson, G. E., Davis, A. M. & King, N. M. P. Vulnerability to influence: a two-way street. Am. J. Bioeth. AJOB 4, 50–2; discussion W32 (2004).

[Taylor & Francis Online]
Journal Article

Churchill, L. R. in Stories Matter Role Narrat. Med. Ethics (Charon, R. & Montello, M.) 183–195 (Routledge, 2002).

Book Chapter

King NMP. "RAC Oversight of Gene Transfer Research: A Model Worth
Extending?" Journal of Law, Medicine & Ethics,, vol. 30, no. 3 (2002):
381-389.

[PubMed]
Journal Article

Henderson, G. E. & King, N. M. P. Perceived Benefits of Participation in Gene Transfer Research. HemAware 7, 73–75 (2002).

Journal Article

Easter MM, Davis AM, Henderson GE. "Confidentiality: More than a
Linkage File and a Locked Drawer." IRB: Ethics and Human Research, vol.
26, no. 2 (2004): 13-17.

[PubMed]
Journal Article

Schaffer, R. et al. Parents’ online portrayals of pediatric treatment and research options. J. Empir. Res. Hum. Res. Ethics 4, 73–87 (2009).

[PubMed Central]
Journal Article

Henderson, G. E., Juengst, E. T., King, N. M. P., Kuczynski, K. & Michie, M. What research ethics should learn from genomics and society research: lessons from the ELSI Congress of 2011. J. Law, Med. Ethics 40, 1008–24 (2012).

[PubMed]
Journal Article

Henderson, G. E. et al. Uncertain benefit: investigators’ views and communications in early phase gene transfer trials. Mol. Ther. 10, 225–31 (2004).

[PubMed]
Journal Article

Henderson, G. E. Is informed consent broken? Am. J. Med. Sci. 342, 267–72 (2011).

[PubMed]
Journal Article

HENDERSON, Gail - Center for Genomics and Society [P50 HG004488]

The UNC-CH Center for Genomics and Society focuses on newly emerging ethical, legal and social implications (ELSI) of genomics research as the field matures and shifts its focus from small efforts to those on a much larger scale. These gene discovery and disclosure activities involve large numbers of individuals from whom DNA has been collected, studies with a small number of individuals whose whole DNA sequences are being examined, and the creation of complex data sets that may be linked in a variety of ways to multiple other sources of data. DNA collected in these activities may test a population for the presence of a known genetic disorder, use genotypic data to develop guides for drug dosing, combine genotype and phenotype data for large-scale prospective studies, collect and store DNA and environmental data in genetic registries, or consolidate DNA collected by multiple investigators to create a "bank" for use in current or future exploratory studies. We argue that although large-scale gene discovery and disclosure efforts have tremendous scientific promise and the potential to lead more directly to changes in public policy or clinical practice, they also raise a wide range of ELSI issues not apparent in smaller-scale efforts. (1) "Scaling up" may change the implications of genetic information for individuals, families, or populations, particularly when genetic findings are ascribed to individuals by virtue of their membership in socially defined groups. (2) Large-scale genomic research may alter challenges to informed consent in response to shifting estimations of risk and benefit. (3) New technologies and data collection and storage capacities may pose unique ELSI issues as investigators, subjects and relevant institutions grapple with regulation of the use of DNA samples, control of data, and their dissemination. (4) All of these concerns are also integral to understanding the most efficient and judicious translation of genomic research findings into clinical or public health practice. We have assembled an interdisciplinary team of investigators to conduct a research on these ELSI issues raised by large scale genomics; offer a research ethics consultation service for genomic researchers; facilitate policy initiatives that are informed by our research findings; and provide training, education, and outreach particularly focused on underrepresented minorities, to foster continued ELSI research on large-scale genomics. In addition to our goal of addressing public health priorities in newborn screening and in the translation of other genetic technologies, inclusion of underrepresented minorities in all aspects of our Center activities highlights the importance of consultation from populations with greatest interest in and most affected by large-scale genomic studies intended to address health disparities.

Henderson, G. (2008). "Introducing Social and Ethical Perspectives on Gene--Environment Research." Sociological Methods & Research - SOCIOL METHOD RES 37: 251-276 [ResearchGate]

[Full Text]
Journal Article

Bailey, DB, Armstrong, D, Kemper, AR, Skinner, D, Warren, SF. Supporting Family Adaptation to Presymptomatic and "Untreatable" Conditions in an Era of Expanded Newborn Screening. Journal of Pediatric Psychology, 34(6):648-661. 2009.

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Skinner D, Weisner T. Sociocultural studies of families of children with intellectual disabilities. Mental Retardation and Developmental Disabilities Research Reviews, 13:302-312.

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Bolnick, D. A. et al. Genetics. The science and business of genetic ancestry testing. Science (80-. ). 318, 399–400 (2007).

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Anne C. Wheeler, Debra G. Skinner, Donald B. Bailey, and Leonard Abbeduto (2008) Perceived Quality of Life in Mothers of Children With Fragile X Syndrome. American Journal on Mental Retardation: May 2008, Vol. 113, No. 3, pp. 159-177.

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Holtzclaw Williams, P. Policy framework for rare disease health disparities. Policy. Polit. Nurs. Pract. 12, 114–8 (2011).

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Wagner, J. K., Cooper, J. D., Sterling, R., & Royal, C. D. (2012). Tilting at windmills no longer: a data-driven discussion of DTC DNA ancestry tests. Genetics in Medicine, 14(6), 586–93. doi:10.1038/gim.2011.77

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Cadigan, R Jean; Butterfield, Rita; Rini, Christine; Waltz, Margaret; Kuczynski, Kristine J; Muessig, Kristin; Goddard, Katrina AB; Henderson, Gail E . Online Education and e-Consent for GeneScreen, a Preventive Genomic Screening Study.. Medline, 20 (4):235-246. 2017. [PubMed ] Journal Article
Boyer GJ, Whipple W, Cadigan RJ, Henderson GE . Biobanks in the United States: How to identify an undefined and rapidly evolving population. Biopreserv Biobank, 10 (6):511-17. 2012. [PubMed] Journal Article

Henderson, G. E., Juengst, E. T., King, N. M. P., Kuczynski, K. & Michie, M. What research ethics should learn from genomics and society research: lessons from the ELSI Congress of 2011. J. Law, Med. Ethics 40, 1008–24 (2012).

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Schaffer, R. et al. Parents’ online portrayals of pediatric treatment and research options. J. Empir. Res. Hum. Res. Ethics 4, 73–87 (2009).

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Henderson, G. E. et al. Characterizing biobank organizations in the U.S.: results from a national survey. Genome Med. 5, 3 (2013).

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Cadigan, R. J., et al. (2011). ""That's a good question": university researchers' views on ownership and retention of human genetic specimens." Genet Med 13(6): 569-575. [PubMed]

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Henderson, G. E. Is informed consent broken? Am. J. Med. Sci. 342, 267–72 (2011).

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Cadigan RJ, Michie M, Henderson G, Davis AM, Beskow LM . The meaning of genetic research results: reflections from individuals with and without a known genetic disorder. J Empir Res Hum Res Ethics, 6 (4):30-40. 2011. [PubMed] Journal Article

Morrissey, C. & Walker, R. L. Funding and Forums for ELSI Research: Who (or What) is Setting the Agenda? AJOB Prim. Res. 3, 51–60 (2012).

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Cadigan RJ, Dragana L, Haldeman K, Conlon I, Reavely E, Henderson GE . Neglected ethical issues in biobank management: Results from a U.S. Study. Life Sci Soc Policy, 9 (1):1-13. 2013. [Full Text] Journal Article

Michie, M. & Skinner, D. Narrating disability, narrating religious practice: reconciliation and fragile X syndrome. Intellect. Dev. Disabil. 48, 99–111 (2010).

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Conley, J. M., et al. (2012). "A trade secret model for genomic biobanking." J Law Med Ethics 40(3): 612-629. [PubMed]

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Prince, A. E. R. & Roche, M. I. Genetic Information, Non-Discrimination, and Privacy Protections in Genetic Counseling Practice. J. Genet. Couns. (2014). doi:10.1007/s10897-014-9743-2

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Dressler LG. . Return of research results from pharmacogenomic versus disease susceptibility studies: what's drugs got to do with it?. Pharmacogenomics, 13 (8):935-49. 2012. [PubMed] Journal Article

Burke, W. et al. Recommendations for returning genomic incidental findings? We need to talk! Genet. Med. 15, 854–9 (2013).

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Easter, M. M. (2012). ""Not all my fault": genetics, stigma, and personal responsibility for women with eating disorders." Soc Sci Med 75(8): 1408-1416. [PubMed]

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Conley JM, Lázaro-Muñoz G, Prince AE, Davis AM, Cadigan RJ . Scientific Social Responsibility: Lessons From the Corporate Social Responsibility Movement.. Am J Bioeth, 15 (12):64-6. 2015. Journal Article

Bailey, D. B. The blurred distinction between treatable and untreatable conditions in newborn screening. Health Matrix Clevel. 19, 141–53 (2009).

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Evans JP . Recreational genomics; what's in it for you?. Genet Med, 10 (10):709-10. 2008. [PubMed] Journal Article
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Prince AE, Conley JM, Davis AM, Lázaro-Muñoz G, Cadigan RJ . Automatic Placement of Genomic Research Results in Medical Records: Do Researchers Have a Duty? Should Participants Have a Choice?. J Law Med Ethics, 43 (4):827-42. 2015. [PubMed] Journal Article

Bailey D. Newborn screening for intellectual disability: Past, present, and future. LM Glidden (Ed.), International Review of Research in Mental Retardation, Volume 36. San Diego: Elsevier. 2007

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Walker, R. L. and C. Morrissey (2012). "Charting ELSI/'s future course: lessons from the recent past." Genet Med 14(2): 259-267.

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Whitmarsh IA. Biomedical ambiguity: Race, asthma, and the contested meaning of genetic research in the Caribbean. Cornell University Press. [JStor]

Book

Walker, R. L., & Morrissey, C. (2013). Bioethics Methods in the Ethical, Legal, and Social Implications of the Human Genome Project Literature. Bioethics. doi:10.1111/bioe.12023

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Landsman G, van Riper M . Family, Household, and Social Context of Bringing up Children with Special Health Care Needs. In Sobo EJ, Kurtin PS Optimizing Care for Children with Special Health Care Needs in Their Early Years. Baltimore, MD: Brookes Publishing Co.. 352. 2007. Book Chapter

Dressler LG. Control and use of banked human specimens in research. Biospecimen ownership. Counterpoint. Journal of Cancer Epidemiology, Prevention and Biomarkers, 16(2):190-191. 2007.

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Walker RL, Ivanhoe PJ . Working Virtue: Virtue Ethics and Contemporary Moral Problems. New York, NY: Oxford University Press 319p. 2009. Book

Mitchell, R. et al. Genomics. Genomics, biobanks, and the trade-secret model. Science (80-. ). 332, 309–10 (2011).

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Evans JP. Healthcare in the age of genetic medicine. JAMA, 298(22):2670-2672. 2007.

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Lowdermilk DL, Perry SE . Maternity and Women's Health Care. Elsevier Health Sciences 1188. 2011. Book

Michie, M., Henderson, G., Garrett, J. & Corbie-Smith, G. “If I could in a small way help”: motivations for and beliefs about sample donation for genetic research. J. Empir. Res. Hum. Res. Ethics 6, 57–70 (2011).

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Hayes D, Thor A, Dressler L, Weaver D, Edgerton S, Cowan D, Broadwater G, Goldstein L, Martino S, Ingle J, Henderson IC, Norton L, Winer E, Hudis C, Ellis M, Berry D. HER2 and response to paclitaxel in node-positive breast cancer. New England Journal of Medicine, 357(15):1496-1506. 2008.

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Ellison GT, Kaufman JS, Head RF, Martin PA, Kahn JD . Flaws in the U.S. Food and Drug Administration's rationale for supporting the development and approval of BiDil as a treatment for heart failure only in black patients. J Law Med Ethics, 36 (3):449-57. 2008. [PubMed] Journal Article

Michie, M., Cadigan, R. J., Henderson, G. & Beskow, L. M. Am I a control?: Genotype-driven research recruitment and self-understandings of study participants. Genet. Med. 14, 983–9 (2012).

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Henderson GE, Churchill LR, Davis AM, et al. Clinical trials and medical care: Defining the therapeutic misconception. Public Library of Science- Medicine, 4(11):1735-1738. 2007.

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