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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.

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.

Raspberry, K. A. & Skinner, D. Negotiating desires and options: how mothers who carry the fragile X gene experience reproductive decisions. Soc. Sci. Med. 72, 992–8 (2011).

[PubMed Central]
Journal Article

King, N. M. P. The Ethics of Genetic Testing: Is More Always Better. N. C. Med. J. 68, 112–114 (2007).

[PubMed]
Journal Article

Kaufman, J. S. Epidemiologic analysis of racial/ethnic disparities: some fundamental issues and a cautionary example. Soc. Sci. Med. 66, 1659–69 (2008).

[PubMed]
Journal Article

Susswein, L. R. et al. Increased uptake of BRCA1/2 genetic testing among African American women with a recent diagnosis of breast cancer. J. Clin. Oncol. 26, 32–6 (2008).

[PubMed]
Journal Article

Hayes, D. F. et al. HER2 and response to paclitaxel in node-positive breast cancer. N. Engl. J. Med. 357, 1496–506 (2007).

[PubMed]
Journal Article

Skinner, D. (2008). Interdisciplinary research. In L. Given (Ed.), The SAGE encyclopedia of qualitative research methods (pp. 447-450). Thousand Oaks, CA: Sage.

Book Chapter

Nelson, D. K. et al. Obtaining consent from both parents for pediatric research: what does “reasonably available” mean? Pediatrics 131, e223–9 (2013).

[PubMed]
Journal Article

Kaufman, J. S. & Cooper, R. S. Race in epidemiology: new tools, old problems. Ann. Epidemiol. 18, 119–23 (2008).

[PubMed]
Journal Article

Van Riper M. Families of children with Down syndrome: Responding to a "change of plans" with resilience. Journal of Pediatric Nursing, 22:116-128. 2007

[PubMed]
Journal Article
Sobo E, Kurtin P . Optimizing Care for children with Special Health Care Needs in Their Early Years. Baltimore, MD: Brookes Publishing Co 352. 2007. Book
Kaufman J, Cooper R . Use of Racial and Ethnic Identity in Medical Evaluations and Treatments. In Whitmarsh I, Jones DS What's the Use of Race?: Modern Governance and the Biology of Difference. Boston, MA: The MIT Press. 277. 2010. Book Chapter

Van Riper, M. in Matern. Women’s Heal. Care (Lowdermilk, D. L. & Perry, S. E.) (Elsevier Health Sciences, 2007). 

Book Chapter

Skinner, D. et al. Parents’ decisions to screen newborns for FMR1 gene expansions in a pilot research project. Pediatrics 127, e1455–63 (2011).

[PubMed]
Journal Article

Kaufman, J. S. Epidemiologic analysis of racial/ethnic disparities: some fundamental issues and a cautionary example. Soc. Sci. Med. 66, 1659–69 (2008).

[PubMed Central]
Journal Article

Whitmarsh, I. Biomedical Ambiguity: Race, Asthma, and the Contested Meaning of Genetic Research in the Caribbean. 225 (Cornell University Press, 2008). 

Book
Skinner D . The SAGE Encyclopedia of Qualitative Research Methods. Thousand Oaks, CA: Sage Publications Inc. 1072. 2008. Book

Berg, J. S. et al. An informatics approach to analyzing the incidentalome. Genet. Med. 15, 36–44 (2013).

[PMC]
Journal Article

Corbie-Smith, G., et al. (2008). "Studying genetic research participants: lessons from the "Learning About Research in North Carolina" study." Cancer Epidemiol Biomarkers Prev 17(8): 2019-2024. [PubMed]

[PubMed]
Journal Article

Bailey, D. B., Bishop, E., Raspa, M. & Skinner, D. Caregiver opinions about fragile X population screening. Genet. Med. 14, 115–21 (2012).

[PMC]
Journal Article

Easter, M. M., et al. (2006). "The many meanings of care in clinical research." Sociol Health Illn 28(6): 695-712. [PubMed]

Book Chapter

Bailey, D. B. et al. Can a decision aid enable informed decisions in neonatal nursery recruitment for a fragile X newborn screening study? Genet. Med. 15, 299–306 (2013).

[PubMed]
Journal Article

Henderson, G. et al. Great expectations: views of genetic research participants regarding current and future genetic studies. Genet. Med. 10, 193–200 (2008).

[PubMed]
Journal Article

Dressler, L. G., Jones, S. S., Markey, J. M., Byerly, K. W. & Roberts, M. C. Genomics education for the public: perspectives of genomic researchers and ELSI advisors. Genet. Test. Mol. Biomarkers 18, 131–40 (2014).

[PubMed]
Journal Article

Henderson GE, Mahoney D, Corneli A, Nelson DK, Mwansambo C. Applying research ethics guidelines: The view from a sub-Saharan research ethics committee. Journal of Empirical Research on Human Research Ethics, 2(2):41-48. 2007.

[PubMed]
Journal Article

Berg, J. S. et al. Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. Genet. Med. 13, 218–29 (2011).

[PubMed]
Journal Article
Walker RL, Ivanhoe PJ . Working Virtue: Virtue Ethics and Contemporary Moral Problems. Oxford, UK: Oxford University Press 313. 2009. Book

Landsman, G. & Van Riper, M. in Optim. Care Child. with Spec. Heal. Care Needs Their Early Years (Sobo, E. J. & Kurtin, P. S.) (Brookes Publishing Co., 2007).

Book Chapter

Bolnick DA, Fullwiley D, Duster T, Cooper RS, Fujimura JH, Kahn J, Kaufman JS, Marks J, Morning A, Nelson A, Ossorio P, Reardon J, Reverby SM, TallBear K. The science and business of genetic ancestry testing. Science, 318:399-400. 2007.

[PubMed]
Journal Article

Cuskelly, M., et al. (2009). "Families of children with Down syndrome: What we know and what we need to know." Down Syndrome Research and Practice 13. [ResearchGate]

[Full Text]
Journal Article
Prince AE . TANTAMOUNT TO FRAUD?: EXPLORING NON-DISCLOSURE OF GENETIC INFORMATION IN LIFE INSURANCE APPLICATIONS AS GROUNDS FOR POLICY RESCISSION.. Health Matrix Clevel, 26 (1):255-307. 2016. [Scholarly Commons] Journal Article

HENDERSON, Gail - From Specimen to Biobank: Using an Organizational Perspective to Study ELSI Issue [R01 HG005227]

This research project will collect and analyze qualitative and quantitative data about US biobanks, exploring how organizational strategies, features, and attributes affect both framing and response to ELSI and policy choices. We argue that a biobank's organizational features impact 1) policy choices directly, and 2) members' framing and response to ELSI which in turn impact policy choices. We will select 12 biobanks with diverse creation strategies (creating collections from the "ground up" (de novo), repurposing non-research collections, and networking existing specimen collections) for exploratory in-depth case studies of their history, evolution, and response to ELSI and policy choices. Using the results of the case studies, we will refine questions and hypotheses about the relationships between organizational strategies, features, and attributes, ELSI, and policy choices in order to inform a survey of 500 biobank administrators selected from a systematic sampling frame. As a follow-up to the survey, interviews with 50 administrators who reported different policy choices in key areas will be conducted to further explore our findings. Based on data from these two AIMS, we will present policy recommendations to a group of biobank stakeholders, and using a Delphi process, we will develop consensus about guidelines to present to policy makers and the US biobank community. PUBLIC HEALTH RELEVANCE: This is a study of organizations, called "biobanks," that collect, store, manage, and share human samples, such as blood or tissue, for the purpose of conducting health research. Because this is a new and rapidly evolving industry, it is important to understand how biobanks respond to ethical, legal, and policy concerns that arise from genetic research that relies upon such long term storage and use. We will interview people who work in these organizations about their experiences, in order to make recommendations about the best ways to resolve these concerns.

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

[PubMed Central]
Journal Article

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.

Henderson GE, Easter MM, Zimmer C, King NMP, Davis A, Rothschild B, Churchill L, Wilfond B, Nelson D. Therapeutic misconception in early phase gene transfer trials. Social Science and Medicine, 62:239-53. 2006.

[PubMed]
Journal Article

Henderson, G, Garrett, J, Bussey-Jone, J, Moloney, ME, Blumenthal, C, Corbie-Smith, G. Great expectations: views of genetic research participants regarding current and future genetic studies. Genetics in Medicine. 10(3):193-200. 2008.

[PubMed]
Journal Article

HILGARTNER, Stephen - Organizing the HGI: Social Impact and Technology Design [R01 HG000417]

This sociological study is a prospective field research project on the development of the human genome initiative during the first half of the 1990's. The study is examining how the genomics community goes about trying to build a technological and social system capable of mapping and sequencing large genomes. The study is motivated by the belief that it is likely that: (a) decisions about the technological and organizational structure of the genome project will influence the social impact of the HGP; and (b) decisions about how to manage scientific collaboration on this scale will affect research ethics and practices well beyond the genomics community. For this study, topics of particular interest include the setting of policy agendas; the patterns of collaboration, competition, and data sharing in the genomics community; the selection of technological and organizational strategies; and the interaction of diverse technological cultures (such as molecular biology and computer science). The study is examining the evolution of the HGP through interviewing and participant observation.

Stemerding D, Hilgartner S . Getting New Technologies Together: Studies in Making Sociotechnical Order (De Gruyter Studies in Organization, No 82). Hawthorne, NY: Aldine de Gruyter 39-52. 1998. Book
Hilgartner S . The Human Genome Project. Thousand Oaks, CA: Sage Publications, Inc. 302-316. 1995. Book

Hilgartner, S. and S.I. Brandt-Rauf. "Data Access, Ownership, and Control: Toward Empirical Studies of Access Practices." Knowledge: Creation, Diffusion, Utilization. June 1994: 15(4): 355-372.

[Full Text]
Journal Article

Hilgartner, S. in Intellect. Prop. Res. Tools Mol. Biol. Rep. a Work. (National Academy of Sciences) 28–39 (National Academy Press, 1997).

Book Chapter

Stemerding, D. & Hilgartner, S. in Get. New Technol. Together Stud. Mak. Sociotechnical Order (De Gruyter Stud. Organ. , No 82) (Disco, C. & van der Meulen, B.) 39–52 (Aldine de Gruyter, 1998).

Book Chapter

Hilgartner, S. "Biomolecular Databases: New Communication Regimes for Biology?" Science Communication. December 1995: 17(2): 240-263.

[Full Text]
Journal Article

Hilgartner, S. in Handb. Sci. Technol. Stud. (Jasanoff, S., Markle, G. E., Peterson, J. C. & Pinch, T. J.) 302–316 (Sage Publications, Inc., 1995).

Book Chapter

Hilgartner, S. "Data Access Policy in Genome Research." In : Private Science, A. Thackray, Ed. University of Pennsylvania Press, April 1998. 304p.

Book Chapter

HOFFMAN, Diane E. - Federal Regulation of Probiotics: An Analysis of Existing Regulatory Framework and Recommendations for Alternative Frameworks [R01 HG005171]

This proposal requests funding to support an evaluation of existing regulatory frameworks and their appropriateness for the regulation of new probiotic products that are available in the market or will be available in the near future. The project will include a literature review, review of existing relevant statutes and regulations, and three day-long meetings that will each bring together 15-20 invited participants from the regulatory, scientific, biotechnology, government and academic communities to discuss whether the existing regulatory framework of foods, dietary supplements, and drugs is sufficient to ensure the safety of probiotics and accuracy of health-related claims made by sellers of products with probiotic components. The focus of the proposal is the regulation of probiotic products that are or will be available to consumers for human use without a prescription and probiotic products that are or will be available to human patients in the clinical setting. Additionally, the focus of the study will be only those commercial and clinical products that promote themselves as having, or make health-related claims based on, probiotic properties. The first meeting will focus on the science of probiotics - including the current state of probiotic research, current and future clinical applications of probiotics, current and future commercial uses of probiotics, and a discussion of the benefits and risks of consuming or using probiotics. The second meeting will focus on the adequacy of the current regulatory framework for consumer products that contain probiotics components. The third meeting will focus on developing an appropriate framework for the regulation of probiotics and making regulatory policy recommendations. Following the final meeting, the Investigators will prepare a paper or series of papers, with the help of meeting participants, that will include the following topics: a) current regulation of probiotics; b) documented benefits and risks of probiotics use; c) the adequacy of the current regulatory frameworks for the regulation of probiotics; and d) if appropriate, suggested alternative regulatory models for the regulation of probiotics. PUBLIC HEALTH RELEVANCE: The field of probiotics is a new field that may or may not fit into the current regulatory framework in the United States that is in place to regulate food and drugs for human use. As with all new technologies, it is critical that an interdisciplinary discussion of possible product risks and appropriate regulation take place before uptake of the new technology makes it too burdensome or unrealistic to impose a new regulatory structure on the new technology. This project will explore the current state of probiotics research and identify current and potential uses of probiotics in consumer products and clinical applications. The Investigators will bring together experts in the area of health policy, human microbiome science, and food and drug regulation to discuss the adequacy of the current regulatory frameworks and any potential alternatives in order to provide policy makers with regulatory options designed to protect the public from misleading claims or any potential risks that might derive from the use of probiotic products.

Hoffmann, D. E., Fortenberry, J. D. & Ravel, J. Are changes to the common rule necessary to address evolving areas of research? A case study focusing on the human microbiome project. J. Law. Med. Ethics 41, 454–69 (2013).

[PubMed]
Journal Article

Hoffmann, D. E. et al. Probiotics: Achieving a Better Regulatory Fit. (2014). at

[SSRN]
Journal Article

Hoffmann, D. E. Health claim regulation of probiotics in the USA and the EU: is there a middle way? Benef. Microbes 4, 109–15 (2013).

[PubMed]
Journal Article

HOFFMAN, Lance - 2nd Annual Conference on Computers, Freedom, and Privacy [Y01 HG020002]

The rush of computers into our workplaces, homes, and institutions is drastically altering how we work and live, how we buy and sell, and with whom we communicate. Computers are obliterating traditional political and organizational boundaries, making time zones irrelevant, and bridging diverse cultures. They are fundamentally changing our culture, values, laws, traditions, and identities. The turmoil of the changes calls into question many old assumptions about privacy, freedom of speech, search and seizure, access to personal and governmental information, professional responsibilities, ethics, criminality and law enforcement. This conference aims to sort out these questions and arrive at a consensus for action through discussion and education. One session will deal specifically with genetic databanking, by providing an overview of genetic databanking, followed by a panel discussion on the tension between an individual's right to privacy and the interests of third parties. DNA forensic data banks and the use of genetic data by insurers will be explored.

Hoffman, L., Ed. Proceedings of the Second Conference on Computers, Freedom, and Privacy. New York: Association for Computing Machinery, Inc., 1993.

Journal Article

HOLM, Ingrid - Returning Individual Genetic Research Results to Parents and Children [RC1 HG005491]

The mapping of the human genome has allowed researchers to discover new relationships between genotype and phenotype, and has provided the basis for genome-informed medical decision-making that will lead to diagnoses and therapies that are targeted, have reduced variability, maximize efficacy, and minimize adverse effects. As information of greater health significance is generated by genomic research, there is an emerging consensus that the ethical return of genomic information will be needed. The goal of this proposal is to understand the attitudes of participants in genomic research towards the return of research results in the setting where the participant is a child and the receiver of the information is the parent. We will take advantage of a large genotype-phenotype project initiated by our group at Children's Hospital Boston (CHB) based on the Informed Cohort, a new paradigm for genomic research that we developed. The Informed Cohort is a model for the ethical recruitment of participants into a longitudinal genotype-phenotype registry and reconciles the "paradox" of maintaining participant privacy, yet providing results. We call the implementation of the Informed Cohort model at CHB the "Gene Partnership Project" (GPP). GPP is a longitudinal genotype-phenotype registry that uses a messaging system through the CHB personally- controlled health record (PCHR) to facilitate the disclosure of research results back to the participants. The "Informed Cohort Oversight Board" (ICOB) will provide the crucial oversight of the communication of results back to participants. While the enrollment of children might seem to present additional ethical obstacles, we see the natural participation of the "family unit" that occurs in pediatric hospital as an advantage for GPP. While we have implemented GPP, we do not know what factors will maximize its benefit and appeal for participants and families. We therefore propose a multi-step evaluation of the GPP and the messaging system. We do not know how parents view studies where they receive research results back on their children. To address this issue we will assess the interest of parents to participate in a genotype-phenotype study focused on their children, and determine if they would want to receive genetic information back from the study about their child. We also do not know how participants will perceive the messaging when it occurs. Thus, we will assess the use of the PCHR-based messaging system by parents of participants enrolled in GPP. Finally, a functioning ICOB will be paramount for the process of returning research results to be successful, yet we do not know how the ICOB will function. Since further work is required to ensure that the ICOB is a workable model for decision-making, we will develop the "Informed Cohort Oversight Board". The knowledge gained from the proposed project on the ethical return of research results to participants will be critical as we move towards a paradigm where individuals directly benefit from the genomic research they participate in, and eventually from genomic medicine.

Holm, I. A. et al. Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children’s Hospital Gene Partnership Informed Cohort Oversight Board. Genet. Med. 16, 547–52 (2014).

[PubMed]
Journal Article

Holm, I. A. & Taylor, P. L. The Informed Cohort Oversight Board: From Values to Architecture. Minnesota J. Law, Sci. Technol. 13, 669–690 (2012).

[PubMed Central]
Journal Article

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

[PubMed Central]
Journal Article

HOLM, Ingrid - Returning research results in children: Parental Preferences and Expert Oversight [R01 HG006615]

When individuals are queried about whether or not they wish to receive individual research results about themselves that are discovered in the course of genomic research, the majority indicate that they prefer receiving all results, including those that are of limited validity and actionability. These preferences are in sharp contrast to the recommendations of experts who are wary of the potential for confusion and outright harm if questionable results are returned, and thus generally recommend returning only results of high validity and actionability. In this project, we will seek to resolve this tension by empirically exploring the extent to which participant preferences can reliably guide the return of individual research results, and can be incorporated into a governance structure around the return of results which minimizes harm. We are well positioned to gather data on this issue through the Children's Hospital Boston "The Gene Partnership" (TGP), a novel pediatric research registry combining genetic banking, access to CHB electronic medical records, and scalable computer-based systems to ascertain preferences for return of results from the parents of research participants and, ultimately, to return those results. TGP is also unique among large-scale genomic studies, as participants have consented to receive their individual research results. Recognizing that oversight is essential in order to ethically return research results to participants, we have established a panel of medical and ethical experts (the Informed Cohort Oversight Board, or ICOB) to advise TGP on which results should and should not be returned. As we begin to return research results, we propose to build an evidence base to resolve the tension between participant preferences and expert opinion by determining if, and how, participant preferences can be incorporated into the ICOB's oversight of return of results. Participants in our study will be randomized to one of three methods to set their preferences ("all" or "no" results, using a checklist of types of results, or an interactive educational tool and then a checklist). We will provide participants with hypothetical research results to determine whether they fully understand the implications of their stated preferences for research results to receive, and if a novel interactive educational tool helps participants set preferences that more truly reflect their actual preferences. We will also use a combination of hypothetical results and focus groups to study participants' views on the ICOB's criteria for return of individual research results. For participants in whom there are actual individual results to return from whole exome sequencing we will determine the psychological and behavioral effects on TGP participants who receive actual individual research results, and if the method of setting preferences impacts on the effects. At the end of this study, genetic research repositories will better understand the importance of incorporating participant preferences into the governance around return of research results, and the best approaches to accomplish this. PUBLIC HEALTH RELEVANCE: It is important that participants in genomic research benefit from the studies that they are participating in, especially if research results pertain to their current or future health, by choosing what types of individual research results they want to receive (setting preferences). On the other hand, experts fear that participants do not truly understand the implications of their choice of individual research results to receive, suggesting that it is unrealistic to incorporate participant preferences in the return of individual research results. In this project, we will explore the extent to which participant preferences can truly be used to guide governance around return of individual research results.

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

[PubMed Central]
Journal Article
Christensen KD, Savage SK, Huntington NL, Weitzman ER, Ziniel SI, Bacon PL, Cacioppo CN, Green RC, Holm IA. . Preferences for the Return of Individual Results From Research on Pediatric Biobank Samples.. J Empir Res Hum Res Ethics, 12 (2):97-106. 2017. [PubMed] Journal Article

Krier, J. B. & Green, R. C. Management of incidental findings in clinical genomic sequencing. Curr. Protoc. Hum. Genet. Chapter 9, 77:9.23.1–9.23.13. (2013).

[PubMed Central]
Journal Article
Ginsburg G, Willard H Eds. Genomic and Personalized Medicine, Vol. 1. Waltham, MA: Academic Press 102-22. 2013. Book
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, McGuire AL, Nussbaum RL, O'Daniel JM, Ormond KE, Rehm HL, Watson MS, Williams MS, Biesecker LG; American College of Medical Genetics and Genomics . ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med, 15 565-74. 2013. [PubMed] Journal Article

McGuire, A. L. et al. Point-counterpoint. Ethics and genomic incidental findings. Science (80-. ). 340, 1047–8 (2013).

[PubMed]
Journal Article

HOLMES, Helen - Impact of the HGI on Society: A Women's Studies Approach [R13 HG000793]

The objectives of this group research project are to extend the analysis of ethical and social questions raised by the Human Genome Initiative by utilizing insights and methodology recently developed in 4 new subfields of women's studies: feminist ethics, medical ethics, science analysis, and technology studies. The project will use these new approaches in an expressly collaborative methodology, to focus on hopes of, concerns of, and implications for women, especially by seeking and valuing input from potential end-users of HGI discoveries and from groups marginalized by society. During Year I, an explicitly diverse group of 60 researchers will meet in a 3-day Workshop I. A year later, the researchers will convene a final workshop. Results will be presented at a 1-day session open to the public and the media. The P.I., the co-investigators, and several participants will transmit recommendations to private and government organizations. Members will present papers at meetings and follow through on the policy recommendations.

Kenen, R. "Women and Genetics in Contemporary Society (WAGICS) Workshop." National Women's Health Network News (forthcoming)

Book

Mahowald, M. Feminist Fashion in Genetics: The WAGICS Workshop in Zanesville. Newsl. Netw. Fem. Approaches to Bioeth. 4, 3 (1996).

[Full Text]
Journal Article

Johnson, A. Ethics and Genetics. VHL Fam. Forum 4, 10 (1996).

[Full Text]
Journal Article

HOLTZMAN, Neil - Ethical and Legal Issues in the Diffusion of Genetic Tests [R01 HG000026]

This project will study factors influencing physician's adoption of new genetic tests and their attitudes towards how tests should be provided. It will also begin to explore consumer attitudes. The specific aims of the project include the following. 1) To use a mailed questionnaire to compare physicians who have already offered a carrier test for cystic fibrosis to physicians who adopt the test while this study is in progress and to others who have not yet used it and examine the influence of physicians' knowledge of genetics and genetic tests, their perception of their patients' expectations regarding test use, their experience with and concerns about legal liability, and their sensitivity to whether their patients' insurance can pay for the test or whether they have actually used this test. 2) To use interviews and questionnaires to learn how major health care insurers decide when to include new innovative technologies, such as genetic tests, in their benefits packages and what factors influence their decisions. 3) To develop and lead a Task Force on Genetic Testing to explore and make recommendations concerning a number of issues around the development and use of genetic tests. 4) To hold focus groups of consumers to explore their attitudes toward having presymptomatic genetic testing, their expectations of how physicians would and should respond to this technology, and discrepancies between consumers' and physicians' attitudes. Attitudes of African-American women towards genetic tests for breast cancer will be explicitly considered. The study will, therefore, identify the extent of departures from ethical norms in the diffusion of new genetic tests. It will suggest particular situations in which remedial educational interventions or policy changes could improve the safe and effective delivery of genetic tests.

Holtzman, N. A. Primary care physicians as providers of frontline genetic services. Fetal Diagn. Ther. 8 Suppl 1, 213–9 (1993).

[PubMed]
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Holtzman, N. A. Discovery, transfer, and diffusion of technologies for the detection of genetic disorders. Policy implications. Int. J. Technol. Assess. Health Care 10, 562–72 (1994).

[PubMed]
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Holtzman, N. A. Eugenics and genetic testing. Sci. Context 11, 397–417 (1998).

[PubMed]
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Hofman, K. J. et al. Physicians’ knowledge of genetics and genetic tests. Acad. Med. 68, 625–32 (1993).

[PubMed]
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Holtzman, N. A. Medical and ethical issues in genetic screening--an academic view. Environ. Health Perspect. 104 Suppl , 987–90 (1996).

[PubMed]
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Holtzman, N.A. "The Diffusion of New Genetic Tests for Predicting Future Disease." FASEB Journal. 1992: 6; 2806-2812.

[PubMed]
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Geller, G., E.S. Tambor, G.A. Chase et al. "Measuring Physicians' Tolerance for Ambiguity and its Relationship to Their Reported Practices Regarding Genetic Testing." Medical Care. 1993: 31(11); 989-1001.

[PubMed]
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Geller, G. and N.A. Holtzman. "Implications of the Human Genome Initiative for the Primary Care Physician." Bioethics. 1991: 5(4); 318-325.

[PubMed]
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Geller, G., B.A. Bernhardt, K. Helzlsouer et al. "Informed consent and BRCA1 testing." (Correspondence) Nature Genetics. December 1995; 11: 364.

[PubMed]
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Holtzman N.A., Andrews L. "Ethical and legal issues in genetic epidemiology." Epidemiologic Reviews. 1997; 19: 163-174.

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Geller, G. and N.A. Holtzman. "A Qualitative Assessment of Primary Care Physicians' Perceptions About the Ethical and Social Implications of Offering Genetic Testing." Qualitative Health Research. February 1995: 5(1); 97-116.

[Full Text]
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Doksum T, Bernhardt BA, Holtzman NA . Does knowledge about the genetics of breast cancer differ between nongeneticist physicians who do or do not discuss or order BRCA testing?. Genet Med, 5 (2):99-105. 2003. [PubMed] Journal Article
Doksum T, Bernhardt BA, Holtzman NA . Carrier screening for cystic fibrosis among Maryland obstetricians before and after the 1997 NIH Consensus Conference. Genet Test, 5 (2):111-6. 2001. [PubMed] Journal Article
Geller G, Tambor ES, Chase GA, Hofman KJ, Faden RR, Holtzman NA . Incorporation of genetics in primary care practice. Will physicians do the counseling and will they be directive?. Arch Fam Med, 2 (11):119-25. 1993. [PubMed] Journal Article

Tambor, E. S. et al. Improving response rates through incentive and follow-up: the effect on a survey of physicians’ knowledge of genetics. Am. J. Public Health 83, 1599–603 (1993).

[PubMed]
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Geller, G., E.S. Tambor, B.A. Bernhardt et al. "Physicians' Attitudes toward Disclosure of Genetic Information to Third Parties." The Journal of Law, Medicine & Ethics. Summer 1993: 21(2); 238-240.

[PubMed]
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Holtzman, N. A. Promoting Safe and Effective Genetic Tests in the United States: Work of the Task Force on Genetic Testing. Clin. Chem. 45, 732–738 (1999).

[Clinical Chemistry]
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Holtzman, N. A. Benefits and risks of emerging genetic technologies: the need for regulation. Clin. Chem. 40, 1652–7 (1994).

[PubMed]
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Holtzman, N. A. Are we ready to screen for inherited susceptibility to cancer? Oncology (Williston Park). 10, 57–64; discussion 67 (1996).

[PubMed]
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HOLTZMAN, Neil - Ethical and Policy Issues in Cystic Fibrosis Screening [R01 HG000481]

This project will focus on individuals and families receiving care from a health maintenance organization. The assessment of the ethical and policy issues in CF screening seeks to determine the level of interest in learning more about CF, and factors that distinguish those who are interested in participating in a CF education program from those who are not. For those who decide to participate, the focus consists of three elements: education of the study population; determination of the characteristics that distinguish those who decide to have the CF carrier test from those who decide not to be screened; and comparison of the responses of individuals after they have been identified as CF carriers or probable non-carriers, with emphasis on the extent to which these responses are influenced by marital status, and/or carrier status of the partner. All participants who test positive for CF carrier status and a sample of those who test negative will be followed for one year.

Faden, R.R. et al. "Attitudes of Physicians and Genetics Professionals Toward Cystic Fibrosis Carrier Screening." American Journal of Medical Genetics. 1994: 50(1); 1-11.

[PubMed]
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Cystic Fibrosis Carrier Testing: The Choice is Yours. (An educational videotape on cystic fibrosis testing). Baltimore: The Johns Hopkins University, 1992.

Journal Article

Tambor, E. S. et al. Offering cystic fibrosis carrier screening to an HMO population: factors associated with utilization. Am. J. Hum. Genet. 55, 626–37 (1994).

[PubMed]
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Myers, M.F., B.A. Bernhardt, E.S. Tambor and N.A. Holtzman. "Involving Consumers in the Development of an Educational Program for Cystic Fibrosis Carrier Screening." American Journal of Human Genetics. 1994: 54(4); 719-726.

Journal Article

Bernhardt, B.A., G.A. Chase, R.R. Faden et al. "Educating Patients About Cystic Fibrosis Carrier Screening in a Primary Care Setting." Archives of Family Medicine. 1996; 5: 336-340.

[PubMed]
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Holtzman, N. A. Benefits and risks of emerging genetic technologies: the need for regulation. Clin. Chem. 40, 1652–7 (1994).

[PubMed]
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HOLUP, Joan - Race and ELSI outcomes in Asians and Pacific Islanders [R03 HG002763]

This research aims to improve understanding of the Asian and Pacific Islander population in Hawaii participating in the Hemochromatosis and Iron Overload Screening (HEIRS) Study, and in turn our understanding of minority participants' reactions to and understanding of genetic testing. Using terms most suitable to the purpose and context of research as opposed to administrative categories for race and ethnicity has been recommended for public health research. The term 'Asian' has been found to be too broad and to mask important variations in beliefs and behaviors relevant to health and disease. Within the broad categories used in the HEIRS Study, Japanese, Filipinos, Chinese, and other Asian subgroups, would all mark the same 'Asian' category. However, these groups are known to differ from each other in the prevalence of health conditions, beliefs and behaviors. Specifically, differences between subgroups of Asians have been found in beliefs and behaviors related to genetic testing and counseling. In addition to known health related differences, there is also considerable heterogeneity in socioeconomic characteristics within Asian and Pacific Islander subgroups. These socioeconomic differences are particularly relevant to the HEIRS Ethical, Legal, and Social Implications (ELSI) outcomes of interest. The primary objective of this study is to assess differences in opinions about genetic testing and causes of disease using a measure with detailed Asian and Pacific Islander categories. This will be assessed among 2,761 HEIRS participants, the majority of which are Asians and Pacific Islanders. We hypothesize that there will be differences in opinions about genetic testing and causes of disease among participants originally comprising the same broad categories. We will also determine the proportion of persons who mark multiple categories and discover their primary identification. We hypothesize that at least 1/5 of participants will mark multiple categories and that among this mixed group, attitudes will be similar to those of the group with which they primarily identify. This proposal also suggests that a method of recognizing diversity among Asians and Pacific Islanders is to address groups in terms in which they self-identify. Toward this aim, a secondary outcome is to determine whether demographic questions that include more detailed, subgroup information affect the likelihood of research participation. We hypothesize that a failure to include detailed categories of Asian and Pacific Islanders on the initial HEIRS study enrollment questionnaire reduces the chance that persons of those groups completed the questionnaire.

Holup, J. L. et al. Performance of the U.S. Office of Management and Budget’s Revised Race and Ethnicity Categories in Asian Populations*. Int. J. Intercult. Relat. 31, 561–573 (2007).

[PubMed Central]
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HUDSON, Kathy - National Black Leadership Conference on Genetics [R13 HG003314]

The National Black Leadership Conference on Genetics will bring together thought, civic, and elected leaders from the black community to learn about human genetics, new developments in genetic technology, future research directions, the application of genetics to health and medicine, and the use of genetic information and technology outside of the medical context. Participants will consider issues for the black community arising from advances in genetics, explore areas of optimism and concern, and identify high priority issues for further collaborative exploration. The outcome of the Conference will be for the participants to identify and prioritize action steps to bring an important voice to the nation's consideration of the development and use of new genetic technologies. The plenary presentations and break out discussions during the two-day meeting will address questions such as why have scientists engaged in a concerted effort to uncover the genetic differences and similarities between peoples from differing geographic origins? How will this information be understood and how does it fit into an historical context? How will this information be used to improve health care? How might other social institutions use this information? What role should participating organizations play in the nation's consideration of the development and use of new genetic technologies to maximize benefits for the black community? Individuals in leadership positions in national and regional organizations focusing primarily on issues of concern to the black community will be invited to participate in the Conference. The Conference will be held in Washington DC in October 2004.

IMAGN! Increasing Minority Awareness of Genetics Now! Conference Report. October 2004. Genetics & Public Policy Center. Johns Hopkins University.

Book

HUDSON, Kathy - Making Every Voice Count: Public Consultation on Genetics, Environment and Health [U01 HG004206]

The completion of the human genome project, the creation of unique genetic research resources, and the development of robust genome analysis technology, have provided powerful tools to unravel the genetic contribution to health and disease. Yet, many human diseases are the product of complex interactions between genes and environment. The NHGRI and government advisors have identified the creation of a U.S. longitudinal study to collect environmental exposures, genetic risk factors, lifestyle, and medical experiences from hundreds of thousands of Americans as uniquely valuable. Politically, a study of such enormity and consequence requires that the public support - or at least not actively oppose - its undertaking. Ethically, such a study should be designed and undertaken in cooperation with citizens, after the hopes and concerns of ordinary citizens are sought, duly considered, and addressed. The goal of this proposal is to obtain wide societal input to inform the design and implementation of a possible large U.S.-based longitudinal cohort study of the role of genes and environment in health and disease. The project has three specific aims: 1) Develop and evaluate informational materials describing the goals and design considerations of the large cohort study; 2) Assess public attitudes about the proposed cohort study at the individual level; and 3) Engage citizens and community leaders to assess attitudes and pilot test methods of initiating community-based dialogue. This pilot project will use qualitative and quantitative methods to provide a rich and representative assessment of the public's attitudes and to engage the public in an initial dialogue about a possible large cohort study. The pilot will be conducted in five geographically and demographically distinct locations, as well as nationally using a representative sample. The project will explore specific study design elements and the perceived benefits and risks to participants, communities, and society; engage community leaders; evaluate methods of stimulating citizen dialogue and public consultation; and convene a citizens' advisory panel to provide guidance and assess the effectiveness of these methods for a large cohort study.

Platt, J., Bollinger, J., Dvoskin, R., Kardia, S. L. R. & Kaufman, D. Public preferences regarding informed consent models for participation in population-based genomic research. Genet. Med. (2013). doi:10.1038/gim.2013.59

[Nature]
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Murphy, J. et al. Public expectations for return of results from large-cohort genetic research. Am. J. Bioeth. AJOB 8, 36–43 (2008).

[PubMed Central]
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Murphy, J. et al. Public perspectives on informed consent for biobanking. Am. J. Public Health 99, 2128–34 (2009).

[PubMed Central]
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Kaufman, D., Murphy, J., Scott, J. & Hudson, K. Subjects matter: a survey of public opinions about a large genetic cohort study. Genet. Med. 10, 831–9 (2008).

[PubMed]
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Kaufman, D., Murphy, J., Erby, L., Hudson, K. & Scott, J. Veterans’ attitudes regarding a database for genomic research. Genet. Med. 11, 329–37 (2009).

[PubMed]
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Kaufman, D. et al. Ethical implications of including children in a large biobank for genetic-epidemiologic research: a qualitative study of public opinion. Am. J. Med. Genet. Part C Semin. Med. Genet. 148C, 31–9 (2008).

[PubMed]
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Kaufman, D. J., Murphy-Bollinger, J., Scott, J. & Hudson, K. L. Public opinion about the importance of privacy in biobank research. Am. J. Hum. Genet. 85, 643–54 (2009).

[PubMed Central]
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HUGHES-HALBERT, Chanita - Comparing Models of Pre-Test Education for BRCA1 Testing [R01 HG001846]

The project will carry out a multi-institutional randomized trial to evaluate whether the outcomes of BRCA1/2 testing among female mutation carriers are improved by providing a psychosocial telephone counseling (PTC) intervention in addition to standard genetic counseling (SGC). The specific aims are: (1) to evaluate the efficacy of PTC delivered in conjunction with SGC, compared to SGC only; (2) to explore the mechanisms by which the PTC impacts on psychosocial and behavioral outcomes; 3) to identify carriers who are most and least likely to benefit from PTC; and (4) to conduct an economic evaluation of the two counseling strategies. The participants in this randomized trial are 290 female carriers of BRCA1/2 mutations and 290 female noncarriers. A baseline assessment will be conducted prior to the offer of testing to collect data on background variables, moderator variables, and baseline levels of outcome variables. Following in-person pre-test genetic counseling and informed consent, participants will have an opportunity to have BRCA1/2 testing. After providing additional written consent, they will receive their results during an individual in-person session with a genetic counselor. Following disclosure of mutation status, carriers of BRCA1/2 mutations will be assigned randomly to receive either SGC follow-up only or SGC plus PTC. The PTC protocol, adapted from the previous research of the study investigators, will be delivered in 6 sessions over a 3-month period after disclosure. Sessions will include supportive counseling and provide training in coping skills to enhance the outcomes of genetic testing. Follow-up interviews will be conducted at 1-, 4-, 6-, and 12-months post-disclosure to collect data on the following outcomes; comprehension, distress, family communications and functioning, adoption of recommended cancer screening practices, and satisfaction with decisions about prophylactic surgery. If beneficial and cost-effective, the proposed PTC intervention can be disseminated to varied research and clinical settings in which BRCA1/2 testing is offered.

Tercyak, K. P., Lerman, C., Peshkin, B. N., Hughes, C., Main, D., Isaacs, C., & Schwartz, M. D. (2001). Effects of coping style and BRCA1 and BRCA2 test results on anxiety among women participating in genetic counseling and testing for breast and ovarian cancer risk. Health Psychology, 20(3), 217–22. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/11403219

[PubMed]
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Peshkin, B. N., DeMarco, T. A., Brogan, B. M., Lerman, C. & Isaacs, C. BRCA1/2 testing: complex themes in result interpretation. J. Clin. Oncol. 19, 2555–65 (2001).

[PubMed]
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Lerman C. "Psychological aspects of genetic testing: Introduction to the Special Issues." Health Psychology. 1997; 16: 3-7.

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Hughes, C. et al. All in the family: evaluation of the process and content of sisters’ communication about BRCA1 and BRCA2 genetic test results. Am. J. Med. Genet. 107, 143–50 (2002).

[PubMed]
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Hughes, C. et al. Ethnic differences in knowledge and attitudes about BRCA1 testing in women at increased risk. Patient Educ. Couns. 32, 51–62 (1997).

[PubMed]
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Benkendorf, J. L. et al. Patients’ attitudes about autonomy and confidentiality in genetic testing for breast-ovarian cancer susceptibility. Am. J. Med. Genet. 73, 296–303 (1997).

[PubMed]
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Graves KD, Wenzel L, Schwartz MD, Luta G, Wileyto P, Narod S, Peshkin BN, Marcus A, Cella D, Emsbo SP, Barnes D, Halbert CH . Randomized controlled trial of a psychosocial telephone counseling intervention in BRCA1 and BRCA2 mutation carriers. Cancer Epidemiol Biomarkers Prev, 19 (3):648-54. 2010. [PubMed] Journal Article

Halbert, C. H. et al. Predictors of participation in psychosocial telephone counseling following genetic testing for BRCA1 and BRCA2 mutations. Cancer Epidemiol. Biomarkers Prev. 13, 875–81 (2004).

[PubMed]
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Displaying 1101 - 1200 of 1985 publications.

Last updated: January 24, 2019