NHGRI logo

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.

Search

CHO, Mildred - Center for Integrating Ethics & Genetic Research [P50 HG003389]

The Center for Integration of Research on Genetics and Ethics (CIRGE) was established in 2004. The overall goal of CIRGE is the proactive identification and integration of ethical, legal and social considerations into the design and conduct of current and emerging genetic research. Our thematic focus is on genomics of behavioral traits. The aims of CIRGE in this renewal application are to: 1) Conduct interdisciplinary ELSI research that informs policy regarding the conduct and translation of research on the genomics of behavior; 2) Develop an anticipatory approach to integrate ethics, policy and research on the genomics of behavior by linking the process of research on the genomics of behavior with the ELSI research and policy agendas; and 3) Train interdisciplinary ELSI researchers who are fluent in genomics, ethics and policy. CIRGE will serve as a nexus between stakeholders and end-users of the research on the genomics of behavior, genome scientists, and the ELSI research community. We will create a forum for integrating ethical and social considerations into specific areas of genomic research through: 1) "prognostic" normative analyses that identify the values, principles and assumptions implicated by research, technology and their applications, 2) empirical analyses to map relevant genomic research and technology and identify stakeholders, 3) empirical analyses to assess relevant features of the ethical, legal or social context, such as how different stakeholders think genome information or technology will be used, should be used, is perceived, or who it might benefit or harm, 4) "diagnostic" normative analyses to assess whether and how genomic research and technology supports or undermines stakeholder values, and 5) feedback of normative and empirical ELSI findings into research and development priorities, design criteria or other requirements. These processes can inform the design and application of genome research to enhance benefit and utility to end-users and facilitate translation to clinical and non-medical uses. CIRGE's innovation will be in developing a process for coordinating ELSI research agendas around specific focus areas in genomic research, and for translating the ELSI research findings into design features of genomic research and technology. RELEVANCE: CIRGE's aims to facilitate the appropriate and ethical translation of research on the genomics of behavior in a way that serves the needs and values of end users and stakeholders, including patients, clinicians, and health policy makers.

Mouchawar, J. et al. Impact of direct-to-consumer advertising for hereditary breast cancer testing on genetic services at a managed care organization: A naturally-occurring experiment. Genet. Med. 7, 191–197 (2005).

[Nature]
Journal Article

Sankar, P., Cho, M. K. & Mountain, J. Race and ethnicity in genetic research. Am. J. Med. Genet. Part A 143A, 961–70 (2007).

[PubMed Central]
Journal Article

Singh, J., Illes, J., Lazzeroni, L. & Hallmayer, J. Trends in US autism research funding. J. Autism Dev. Disord. 39, 788–95 (2009).

[PubMed]
Journal Article

Singh, J., Hallmayer, J. & Illes, J. Interacting and paradoxical forces in neuroscience and society. Nat. Rev. Neurosci. 8, 153–60 (2007).

[PubMed Central]
Journal Article

Greely, H. T. in Impact Behav. Sci. Crim. Law (Farahany, N. A.) 161–182 (Oxford University Press, 2009).

Book Chapter

Sankar P, Wolpe PR, Jones NL, Cho MK. How do women decide? Accepting or declining BRCA1/2 testing in a nationwide clinical sample in the United States. Community Genet, 9(2):78-86. 2006.

[PubMed]
Journal Article

Butte AJ. Kohane IS. Creation and implications of a phenome-genome network. Nature Biotechnology, 24(1):55-62. 2006.

[PubMed]
Journal Article

Illes J, Blakemore C, Hansson M, Hensch T, Leshner A, Maestre G, Magistretti P, Quirion R, Strata P. International perspectives on engaging the public in neuroethics. Nature Reviews Neuroscience, 6(12):977-982. 2006

[PubMed Central]
Journal Article

McCormick, J. B., Owen-Smith, J. & Scott, C. T. Distribution of human embryonic stem cell lines: who, when, and where. Cell Stem Cell 4, 107–10 (2009).

[PubMed]
Journal Article

McCormick, J. B., Boyce, A. M. & Cho, M. K. Biomedical scientists’ perceptions of ethical and social implications: is there a role for research ethics consultation? PLoS One 4, e4659 (2009).

[PubMed Central]
Journal Article

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

[PubMed Central]
Journal Article

Magnus, D. & Cho, M. K. A commentary on oocyte donation for stem cell research in South Korea. Am. J. Bioeth. AJOB 6, W23–4 (2006).

[PubMed]
Journal Article

Lee, S. S.-J. et al. Genetics. The illusive gold standard in genetic ancestry testing. Science (80-. ). 325, 38–9 (2009).

[PubMed]
Journal Article

Lee, S. S. Social networking in the age of personal genomics. Saint Louis Univ. J. Heal. Law Policy 3, 41–60 (2009).

Journal Article

Lee SS-J, Mountain J, Koenig, BA. The Meanings of Race in the New Genomics. GE Henderson, SE Estroff, LR Churchill, NMP King, J Oberlander, and RP Strauss (Eds), The Social Contributions to Health, Difference and Inequality: The Social Medicine Reader. 2nd Edition, Volume II. Duke University Press. 2005.

Book Chapter

Lee, S. S.-J. & Crawley, L. Response to open peer commentaries on “Research 2.0: social networking and direct-to-consumer personal genomics”. Am. J. Bioeth. AJOB 9, W1–3 (2009).

[PubMed]
Journal Article

Greely HT. Neuroethics and ELSI: Similarities and Differences. 7 MINN. J. L. SCI. & TECH, 599-637. 2006

[Full Text]
Journal Article

Lee, S. S.-J. & Crawley, L. Research 2.0: social networking and direct-to-consumer (DTC) genomics. Am. J. Bioeth. AJOB 9, 35–44 (2009).

[PubMed]
Journal Article

Greely HT. Stanford Symposium on Preimplantation Genetic Diagnosis: An Introduction - and Some Conclusions. 85 FERTILITY & STERILITY 1631-32. 2006.

[Full Text]
Journal Article

Lee, S. S.-J. Racializing drug design: implications of pharmacogenomics for health disparities. Am. J. Public Health 95, 2133–8 (2005).

[PubMed Central]
Journal Article

CHO, Mildred - Center for Integration of Research on Genetics and Ethics [P50 HG003389]

Modern genetic research gives us unprecedented ability to understand and manipulate fundamental biological processes. Our growing potential to understand and shape the world in genetic terms also seriously challenges basic beliefs and ethical norms. At the same time, values and norms affect the way genetic research is designed and conducted. Despite the significant ethical and societal implications of emerging genetic research, there are few venues for geneticists to participate in interdisciplinary research and to discuss these issues. The overall goal of this proposal is to create a Center for Integrating Ethics and Genetic Research (CIEGR) to develop and test new models of deliberative, interactive processes that integrate ethical, legal and social considerations into the design and conduct of current and emerging genetic research. CIEGR will achieve these goals through a number of innovative programs and products: 1) The Program for Integrated ELSI Research (PIER), which will identify and conduct research on ethical, legal and social issues, focusing on two areas of genetic research (human genetic variation and neuro- and behavioral- genetics), and develop educational materials and policy guidance; 2) a Benchside Consultation Program BCP) for genetic researchers seeking real-time consultation to anticipate and develop policy guidance to address ethical, legal or social issues that could arise from current or future research and that are not addressed by other institutional mechanisms; 3) a Training and Education Program that will train four postdoctoral scholars in both genetic and ELSI research, and use the ethical issues identified by PIER and BCP as the basis for producing educational materials for genetic and ELSI researchers. These will include two documentary training films on research ethics, issue briefs, policy guidance, and webcasts of a series of Interactive Dialogs. The new models will be widely adoptable and will enable unprecedented consideration of genetic research ethics issues among the research community and the public.

Cho MK, Relman DA . Genetic technologies. Synthetic "life," ethics, national security, and public discourse. Science, 329 (5987):38-9. 2010. [PubMed] Journal Article

Allyse, M. & Michie, M. Not-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing. Trends Biotechnol. 31, 439–41 (2013).

[PubMed Central]
Journal Article
Cho M, Wolpert M . Not yet in sequence: Clinical, technical, ethical questions linger over personal genomics. Mod Healthc, 40 (47):24. 2010. [PubMed] Journal Article

McCormick, J. B., Boyce, A. M., Ladd, J. M. & Cho, M. Barriers to Considering Ethical and Societal Implications of Research: Perceptions of Life Scientists. AJOB Prim. Res. 3, 40–50 (2012).

[PubMed]
Journal Article
Valenzuela RK, Henderson MS, Walsh MH, Garrison NA, Kelch JT, Cohen-Barak O, Erickson DT, John Meaney F, Bruce Walsh J, Cheng KC, Ito S, Wakamatsu K, Frudakis T, Thomas M, Brilliant MH . Predicting phenotype from genotype: normal pigmentation. J Forensic Sci, 55 (2):315-22. 2010. [PubMed] Journal Article

Magnus, D. Translating stem cell research: challenges at the research frontier. J. Law, Med. Ethics 38, 267–76 (2010).

[PubMed]
Journal Article
Brown T, Lowenberg K . Biobanks , Privacy , and the Subpoena Power. Stanf J Law Sci Policy, 1 88-101. 2009. [Full Text] Journal Article

Lee, S. S.-J. & Mudaliar, A. Medicine. Racing forward: the Genomics and Personalized Medicine Act. Science (80-. ). 323, 342 (2009).

[PubMed Central]
Journal Article

Sayres, L. C. & Cho, M. K. Cell-free fetal nucleic acid testing: a review of the technology and its applications. Obstet. Gynecol. Surv. 66, 431–42 (2011).

[PubMed]
Journal Article

Latchaw, M., Ormond, K., Smith, M., Richardson, J. & Wicklund, C. Health insurance coverage of genetic services in Illinois. Genet. Med. 12, 525–31 (2010).

[PubMed]
Journal Article

Sayres, L. C., Allyse, M., Norton, M. E. & Cho, M. K. Cell-free fetal DNA testing: a pilot study of obstetric healthcare provider attitudes toward clinical implementation. Prenat. Diagn. 31, 1070–6 (2011).

[PubMed]
Journal Article

Ladd, J. M., Lappé, M. D., McCormick, J. B., Boyce, A. M. & Cho, M. K. The “how” and “whys” of research: life scientists’ views of accountability. J. Med. Ethics 35, 762–7 (2009).

[PubMed]
Journal Article
Caulfield T, Fullerton SM, Ali-Khan SE, Arbour L, Burchard EG, Cooper R, Hardy BJ, Harry S, Hyde-Lay R, Kahn J, Kittles R, Koenig B, Lee SSJ, Malinowski M, Ravitsky V, Sankar P, Scherer SW, Séguin B, Shickle D, Suarez-Kurtz G, Daar AS . Race and ancestry in biomedical research: exploring the challenges. Genome Med, 1 (1):8. 2009. [PubMed Central] Journal Article

Mitchell, P. B. et al. Predictive and diagnostic genetic testing in psychiatry. Clin. Lab. Med. 30, 829–46 (2010).

[PubMed]
Journal Article
Caulfield T, Scott C, Hyun I, Lovell-Badge R, Kato K, Zarzeczny A . Stem cell research policy and iPS cells. Nat Methods, 7 (1):28-33. 2010. [PubMed] Journal Article

Meslin, E. M. & Cho, M. K. Research ethics in the era of personalized medicine: updating science’s contract with society. Public Health Genomics 13, 378–84 (2010).

[PubMed Central]
Journal Article
Fanos JH, Gronka S, Wuu J, Stanislaw C, Andersen PM, Benatar M . Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis. Genet Med, 13 (4):342-8. 2011. [PubMed] Journal Article
Gurwitz D, Bregman-Eschet Y . Personal genomics services: whose genomes?. Eur J Hum Genet, 17 (7):883-9. 2009. [PubMed] Journal Article
Feldman M . The biology of ancestry: DNA, genomic variation, and race. In H. Markus, P. Moya Doing Race: 21 Essays for the 21st Century. New York, NY: W. W. Norton & Company. 136-59. 2010. Book Chapter
Greely HT . Law and the revolution in neuroscience: an early look at the field. Akron Law Review, 42 687-716. 2009. Journal Article
Vernarelli JA, Roberts JS, Hiraki S, Chen CA, Cupples LA, Green RC . Effect of Alzheimer disease genetic risk disclosure on dietary supplement use. Am J Clin Nutr, 91 (5):1402-7. 2010. [PubMed] Journal Article
Muelen R. ter, Savulescu J, Kahane G Eds. Enhancing Human Capacities. Hoboken, NJ: Wiley-Blackwell 2011. Book
Twomey J . Ethical, legal, psychosocial, and cultural implications of genomics for oncology nurses. Semin Oncol Nurs, 27 (1):54-63. 2011. [PubMed] Journal Article
Greely HT . Collecting biomeasures in the Panel Study of Income Dynamics: ethical and legal concerns. Biodemography and Social Biology, 55 (2):270-88. 2009. [PubMed] Journal Article
Vitti JJ, Cho MK, Tishkoff SA, Sabeti PC . Human evolutionary genomics: ethical and interpretive issues. Trends Genet, 28 (3):137-45. 2012. [PubMed] Journal Article
Greely HT . Get ready for the flood of fetal gene screening. Nature, 469 (7330):289-91. 2011. [PubMed] Journal Article
Dewey FE, Chen R, Corder SP, Ormond KE, Caleshu C, Karczewski KJ et al. Phased whole-genome genetic risk in a family quartet using a major allele reference sequence. PLoS Genet, 7 (9):e1002280. 2011. [PubMed Central] Journal Article

Havard, M., Cho, M. K. & Magnus, D. Triggers for research ethics consultation. Sci. Transl. Med. 4, 118cm1 (2012).

[PubMed]
Journal Article
Dudley J, Butte AJ . Enabling integrative genomic analysis of high-impact human diseases through text mining. Pac Symp Biocomput, 580-91. 2008. [PubMed] Journal Article

Rissman, J., Greely, H. T. & Wagner, A. D. Detecting individual memories through the neural decoding of memory states and past experience. Proc. Natl. Acad. Sci. U. S. A. 107, 9849–54 (2010).

[PubMed Central]
Journal Article

Richardson, H. S. & Cho, M. K. Secondary researchers’ duties to return incidental findings and individual research results: a partial-entrustment account. Genet. Med. 14, 467–72 (2012).

[PubMed]
Journal Article

CHO, Mildred - BRCA1/2 Testing: Patient Uptake and Treatment Choices [R01 HG001576]

This project is designed to examine factors associated with the uptake of BRCA1/2 genetic testing and patients' medical management choices after learning their test results. The project will study patients' actual testing and medical management decisions in clinical practice and will examine the role of practitioner attitudes in those decisions. Data will be collected through interviews with patients who are offered BRCA1/2 testing, and through questionnaires to their practitioners. The main goals of the project are: 1) to determine the characteristics of health care practitioners who are interested in or request the BRCA1/2 test, and to test the hypothesis that practitioner specialty, attitudes towards testing, and use of genetic counseling facilities are associated, and that these variables change over time; 2) to test the hypothesis that patient uptake of BRCA1/2 testing is associated with patient demographics, patient knowledge and concerns about testing, actual and perceived risk factors, physician characteristics, and the extent of the informed consent process; and 3) to examine the role of practitioner characteristics in patient medical management decisions after receiving BRCA1 testing.

Cho, M.K., P. Sankar, P.R. Wolpe and L. Godmilow. "Commercialization of BRCA1/2 Testing: Practitioner Awareness and use of a new genetic test." Am J Med Genet. 1999; 83: 157-163.

[PubMed]
Journal Article

Sankar, P., Wolpe, P. R., Jones, N. L. & Cho, M. How do women decide? Accepting or declining BRCA1/2 testing in a nationwide clinical sample in the United States. Community Genet. 9, 78–86 (2006).

[PubMed Central]
Journal Article

CHO, Mildred - Effects of Gene Patents on Genetic Testing And Research [R01 HG002034]

This project will use case studies and a survey, combining qualitative and quantitative approaches, to describe and analyze the effects of a particular class of patents (those that claim DNA sequences for use as a genetic test). The investigators will examine the effects on 1) provision of DNA-based genetic testing services, and 2) research and development of other genetic tests or therapies based on disease-gene associations at academic and commercial institutions. They will use the theory of anti-commons developed by Heller and Eisenberg as the basis for a theoretical framework for identifying circumstances under which patents act as incentives or disincentives to genetic testing research, commercialization, and clinical services. This research will build a model for explaining the impact of patenting on clinical practice, research and development. The analysis will inform public policy by indicated whether intellectual property policies or their implementation should be changed to encourage research and technology transfer, and if so, how.

Cho, M.K., Illangasekare S., Weaver M.A., Leonard D.G.B., Merz J.F. "Effects of Patents and Licenses on the Provision of Clinical Genetic Testing Services." Journal of Molecular Diagnostics. 2003; 1 (5): 3-8.

[PubMed]
Journal Article

Merz J.F., Leonard D.G.B., Kriss A.G., Cho M.K. "Industry opposes genomic legislation." Nature Biotechnology. 2002; 20(7): 657-657 (letter to the editor).

[PubMed]
Journal Article

Caulfield, T., Gold, E.R. and Cho, M.K. "Patenting human genetic material: Refocusing the debate." Nature Reviews Genetics. 2000; 1: 227-231.

[PubMed]
Journal Article

Henry, M. R., Cho, M. K., Weaver, M. A. & Merz, J. F. Genetics. DNA patenting and licensing. Science (80-. ). 297, 1279 (2002).

[PubMed Central]
Journal Article

Henry, M. R., Cho, M. K., Weaver, M. A. & Merz, J. F. A pilot survey on the licensing of DNA inventions. J. Law, Med. Ethics 31, 442–9 (2003).

[PubMed Central]
Journal Article

Merz, J. F., Kriss, A. G., Leonard, D. G. B. & Cho, M. K. Diagnostic testing fails the test. Nature 415, 577–9 (2002).

[PubMed Central]
Journal Article

Merz, J. F., Magnus, D., Cho, M. K. & Caplan, A. L. Protecting subjects’ interests in genetics research. Am. J. Hum. Genet. 70, 965–71 (2002).

[PubMed Central]
Journal Article

Merz, J. F. & Cho, M. K. What are gene patents and why are people worried about them? Community Genet. 8, 203–8 (2005).

[PubMed Central]
Journal Article

CHO, Mildred - Toward a Framework for Policy Analysis of Microbiome Research [R01 HG004900]

It is recognized that research on the human microbiome is important for its potential scientific and medical impact. The complexity of microbiome research, however, could change the way that genetics is studied and understood because it calls for a more complex, nuanced framework for defining and demonstrating causality. The understanding of the human microbiome could also disrupt traditional assumptions about definitions of species, self, disease and normality. It is also recognized that microbiome research can raise ethical, legal, and social issues. The mandate to study the ELSI issues of human microbiome research at this stage implicitly embraces the concept of preventive or prophylactic bioethics. While useful, such an approach can be less effective than desired at identifying ethical and social issues and minimizing harm if it occurs separately from the scientific community, or is conducted in the abstract and general rather than linked to actual features of planned or ongoing research. Our overall goal is to devise an approach to examine the ELSI issues associated with microbiome research. We propose to use the frameworks of Constructive Technology Assessment and Value-Sensitive Design because they are designed to evaluate research specifically incorporating social context and values, and are well suited to evaluating rapidly-moving and boundary-challenging technologies such as those used in microbiome research. We propose to use a dual concept of risk as a tool to link discussions of abstract questions about values and social implications with specific features of research. This analysis will be used to identify potential research design alternatives that could minimize value conflicts and could potentially be generalized to other genomic and biomedical research more broadly. Our specific aims are: AIM 1. To analyze how risk and benefit are conceptualized in research contributing to the understanding of the human microbiome and its applications, through: A) content analysis of scientific articles about microbiome-related research B) content analysis of microbiome articles in the lay media AIM 2. Determine the relationship between microbiome research questions or design, concepts of risk and benefit, and societal values, in order to inform research conduct, through: A) extended, structured interdisciplinary dialog with experts in microbiome research, technology assessment, and ethical and social analysis B) writing and disseminating white papers and articles PUBLIC HEALTH RELEVANCE: Our overall goal is to devise an approach to examine the ELSI issues associated with microbiome research. We propose to use the frameworks of Constructive Technology Assessment and Value-Sensitive Design because to evaluate research specifically incorporating social context and values and the concepts of risk and benefit as a tool to link discussions of abstract questions about values and social implications with specific features of research.

Human Microbiome Project Consortium. Structure, function and diversity of the healthy human microbiome. Nature 486, 207–14 (2012).

[PubMed Central]
Journal Article

Human Microbiome Project Consortium & The Human Microbiome Project Consortium. A framework for human microbiome research. Nature 486, 215–21 (2012).

[PubMed]
Journal Article

CHUNG, Wendy - Impact of return of incidental genetic test results to research participants in the genomic era [R01 HG006600]

Genetic researchers are rapidly adopting methods of whole exome and whole genome sequencing to identify the hereditary bases for human disease as the cost of sequencing rapidly declines and the pipelines for analysis and databases of normal variation become available and more robust. Although most researchers have focused on particular diseases, comprehensive genome analysis also provides data about susceptibility to hereditary conditions beyond the original study aims. Thus, many "incidental" genetic findings of potential clinical relevance to research participants could be generated by the use of whole exome or whole genome sequencing. Such incidental results could have immediate implications for conditions that are avoidable and clinically actionable, such as risk of sudden cardiac death or cancer, but could also indicate hereditary predispositions for conditions for which there is no intervention, such as Alzheimer's disease. It is currently unclear whether incidental genetic findings should be offered to research participants and, if so, which ones, whether research participants will want these results, how participants will respond to their disclosure, and what is required of investigators to return results. Our goal is to collect data to address these questions. We will collect qualitative and quantitative data to investigate decision preferences for return of incidental genetic results and potential psychosocial and behavioral consequences of this information in a large sample of research participants (n=360) who have previously enrolled in research studies for specific diseases. A subset of this population (n=180) will have whole exome sequencing to attempt to identify the underlying causes of a specific disease and will be offered the option of receiving other broader genetic results of clinical relevance. Participants will undergo a re-consent process for this study and will be provided with the option of selective, comprehensive, or no return of those incidental genetic results with clinical utility. To document the medical and psychosocial impact of return of results, we will conduct surveys of participants who received incidental whole exome sequencing results at one month and 12 months following the return of results and conduct semi- structured interviews at 12 months after disclosure on a subset of 60 participants who were offered return of results. Additionally, we will conduct semi-structured interviews and collect survey data from researchers with genomic data (n=300) to determine current practices and important considerations with respect to return of incidental results. Collectively, these results will provide a more complete picture of the possible benefits and burdens of return of incidental research results to participants, differential responsibilities of the primary and secondary users of genomic data with varying degrees of access to and connection with the research participants, and the range of possible incidental findings that could be reported and the differential responsibility to report these results based upon the clinical and psychosocial implications. PUBLIC HEALTH RELEVANCE: Genetic researchers are rapidly adopting methods of whole exome and genome sequencing in genetic studies for specific disease. However comprehensive genome analysis also incidentally may provide data about susceptibility to hereditary conditions beyond the disease of focus. Our goal is to survey research participants and researchers for their preferences on return of these incidental genetic results and to study the impact of returning these incidental genetic results on research participants.

Christensen, K. D., et al. (2018). "Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings." Genet Med 20(10): 1186-1195. [PubMed]

[PubMed]
Journal Article

Appelbaum, P. S. et al. Models of Consent to Return of Incidental Findings in Genomic Research. Hastings Cent. Rep. 44, 22–32 (2014).

[PubMed]
Journal Article

Klitzman, R. et al. Researchers’ views on return of incidental genomic research results: qualitative and quantitative findings. Genet. Med. 15, 888–95 (2013).

[PubMed Central]
Journal Article

O'Daniel, J. M., et al. (2017). "A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories." Genet Med 19(5): 575-582. [PubMed]

[PubMed]
Journal Article
Wolf SM, Amendola LM, Berg JS, Chung WK, Clayton EW, Green RC, Harris-Wai J, Henderson GE, Jarvik GP, Koenig BA, Lehmann LS, McGuire AL, O'Rourke P, Somkin C, Wilfond BS, Burke W . Navigating the research-clinical interface in genomic medicine: analysis from the CSER Consortium. Genet Med, 20 (5):545-553. 2018. [PubMed] Journal Article
Hardart GE, Chung WK . Genetic testing of children for disease that have onset in adulthood: the limits of family interests. Pediatrics, 134 (Suppl 2):S104-110. 2014. [PubMed] Journal Article

Hardart, G. E. & Chung, W. K. Genetic testing of children for diseases that have onset in adulthood: the limits of family interests. Pediatrics 134 Suppl , S104–10 (2014).

[PubMed]
Journal Article

CHURCHILL, Larry - Research, Treatment and Informed Consent in Gene Therapy [R01 HG001177]

This project is designed to analyze the adequacy of the Belmont Report's distinction between research and treatment as a basis for informed consent policy especially as it pertains to gene therapies. The project will produce an interdisciplinary evaluation of informed decision making about gene therapies and will develop new policies to guide decisions about the presentation and use of these new therapies. A comparative social and historical analysis will be undertaken of two disease-treatment pairs: the genetic modification of autologous hematopoietic stem cells including autologous bone marrow transplantation (ABMT), for the therapy of sickly cell disease; and the use of an inhaled modified adenovirus as gene vector for the pulmonary manifestation of cystic fibrosis. Close examination and comparison of these two cases - one prospective and one in clinical trials - will help us illuminate the broad social as well as scientific context that must be appreciated by individuals and institutions before sound policies can be devised and informed decisions made.

Davis, A.M. "Exception from Informed Consent for Emergency Research: Drawing on Existing Skills and Experience." IRB: a Review of Human Subjects. 1998; 20(5): 1-8.

[PubMed]
Journal Article

Churchill, L.R., M.L. Collins, N.M.P. King, S.G. Pemberton and K.A. Wailoo. "Genetic Research as Therapy: Implications of 'Gene Therapy' for Informed Consent." Journal of Law, Medicine & Ethics. 1998; 26: 38-47.

[PubMed]
Journal Article

King, N. M. Rewriting the “points to consider”: the ethical impact of guidance document language. Hum. Gene Ther. 10, 133–9 (1999).

[PubMed]
Journal Article

CHUTE, Christopher - eMERGE Consent and Community Consultation Working Group [U01 HG004599]

Myocardial infarction (Ml) and peripheral arterial disease (PAD) pose an enormous public health burden and there is an urgent need to develop new strategies for their prevention and treatment. Both are manifestations of atherosclerotic vascular disease yet differ in risk factor profiles and clinical presentation. A major aim of this proposal is to identify novel genetic determinants of atherosclerotic vascular disease. Discovering such determinants will lead to new strategies for identifying high-risk subjects who would benefit from aggressive intervention to prevent Ml and PAD and uncover novel etiologic pathways that may serve as targets for new therapies. We will leverage a biorepository of blood samples in 750 Ml and 750 PAD cases and corresponding controls, genotyping performed by NHGRI, and phenotypes and environmental exposures extracted from Mayo's EMR and mapped to standard data formats such as HL7 and CHI standard vocabularies such as SNOMED and RxNorm; we will validate this process against humanly curated phenotype data on both cohorts. We will also serialize this data to facilitate conventional row-oriented analyses tools such as SAS or R. Since genomic data cannot be meaningfully de-identified or anonymized, we will engage extensively with research participants and the community regarding best practices to weigh the future benefits of genomic research to patients, families, and the society, against the potential risks. A systematic examination of patient consenting practices and patient understanding will inform our ethical conduct of research and foster community engagement with the genomic research agenda. We will develop and refine our consenting procedures in collaboration with Mayo's IRB on the basis of our findings, through an "Ethics Incubator" developed as part of Mayo's Clinical and Translational Science Award (CTSA). A combination of in-depth patient interviews, consenting "experiments", and community engagement using Deliberative Democracy methods will be employed. We will make anonymized phenotype annotations for consenting patients available for scientific access through methods to be defined by the NHGRI Cooperative Agreement steering committee. We will analyze whether genotypes at -500,000 SNP loci across the genome, supplied by NHGRI, are associated with two distinct phenotypes of atherosclerotic vascular disease: Ml and PAD. Further, we will investigate how environmental and lifestyle measures (e.g., smoking), identified from the Mayo EMR, modify the observed relationship between genotype and the atherosclerotic vascular disease phenotypes (i.e., gene-environment interactions). We will also investigate whether gene-gene interactions influence susceptibility to Ml and PAD.

Lemke, AA, Trinidad, SB, Edwards, K, Starks, H, Wiesner, G, Genetics Research Review and Issues Project consortium. Attitudes toward Genetic Research Review: Results from a National Survey of Professionals involved in Human Subjects Protection. Journal of Empirical Research on Human Research Ethics, (5)1:83-91. 2010.

[PubMed]
Journal Article

Trinidad, SB, Fullerton, SM, Ludman, EJ, Jarvik, GP, Larson, EB, Burke, W. A too limited view on participants' interests. Science, 332:306. 2011.

Journal Article

Edwards, KL, Lemke, AA, Trinidad, SB, Lewis, SM, Starks, H, Quinn Griffin, MT, Wiesner, GL, Genetics Research Review and Issues Project Consortium. Attitudes toward Genetic Research Review: Results from a Survey of Human Genetics Researchers. Public Health Genomics, Epub ahead of print. 2011.

[PubMed]
Journal Article

McGuire, A. L. et al. Ethical and practical challenges of sharing data from genome-wide association studies: the eMERGE Consortium experience. Genome Res. 21, 1001–7 (2011).

[PubMed Central]
Journal Article
Brown SA, Jouni H, Marroush TS, Kullo IJ. . Disclosing Genetic Risk for Coronary Heart Disease: Attitudes Toward Personal Information in Health Records.. Am J Prev Med, 52 (4):499-506. 2017. [PubMed] Journal Article
Jouni H, Haddad RA, Marroush TS, Brown SA, Kruisselbrink TM, Austin EE, Shameer K, Behnken EM, Chaudhry R, Montori VM, Kullo IJ. . Shared decision-making following disclosure of coronary heart disease genetic risk: results from a randomized clinical trial.. J Investig Med, 65 (3):681-688. 2017. [PubMed] Journal Article

McCarty, C. A. et al. The eMERGE Network: a consortium of biorepositories linked to electronic medical records data for conducting genomic studies. BMC Med. Genomics 4, 13 (2011).

[PubMed Central]
Journal Article

Lemke, A. A., Trinidad, S. B., Edwards, K. L., Starks, H. & Wiesner, G. L. Attitudes toward genetic research review: results from a national survey of professionals involved in human subjects protection. J. Empir. Res. Hum. Res. Ethics 5, 83–91 (2010).

[PubMed Central]
Journal Article

Ludman, E. J. et al. Glad you asked: participants’ opinions of re-consent for dbGap data submission. J. Empir. Res. Hum. Res. Ethics 5, 9–16 (2010).

[PubMed Central]
Journal Article

Brothers, KB, Clayton, EW. "Human Non-Subjects Research": Privacy and Compliance. Open Peer Commentary. American Journal of Bioethics, 10(9):15-17. 2010.

[PubMed]
Journal Article

Lemke, A. A., Smith, M. E., Wolf, W. A. & Trinidad, S. B. Broad data sharing in genetic research: views of institutional review board professionals. IRB Ethics Hum. Res. 33, 1–5 (2011).

[PubMed Central]
Journal Article

Brothers, K. Biobanking in pediatrics: the human nonsubjects approach. Personalized Medicine, 8(1):7179. 2011.

[PubMed]
Journal Article

Lemke, A. A., Wolf, W. A., Hebert-Beirne, J. & Smith, M. E. Public and biobank participant attitudes toward genetic research participation and data sharing. Public Health Genomics 13, 368–77 (2010).

[PubMed Central]
Journal Article

Lemke, A, Smith, M, Wolf, W, Trinidad, S, Genetics Research Review and Issues Project consortium. Broad Data Sharing in Genetic Research: Views of Institutional Review Board Professionals. IRB: Ethics and Human Research, 33(3):1-5. 2011.

[PubMed]
Journal Article

Leeper, N. J., Kullo, I. J. & Cooke, J. P. Genetics of peripheral artery disease. Circulation 125, 3220–8 (2012).

[PubMed]
Journal Article
Crosslin DR, McDavid A, Weston N, Nelson SC, Zheng X, Hart E, de Andrade M, Kullo IJ, McCarty CA, Doheny KF, Pugh E, Kho A, Hayes MG, Pretel S, Saip A, Ritchie MD, Crawford DC, Crane PK, Newton K, Li R, Mirel DB, Crenshaw A, Larson EB, Carlson CS, Jarvik G et al. Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network. Hum Genet, 131 (4):639-52. 2012. [PubMed] Journal Article
Wei WQ, Leibson CL, Ransom JE, Kho AN, Caraballo PJ, Chai HS, Yawn BP, Pacheco JA, Chute CG . Impact of data fragmentation across healthcare centers on the accuracy of a high-throughput clinical phenotyping algorithm for specifying subjects with type 2 diabetes mellitus. J Am Med Inform Assoc, 19 (2):219-24. 2012. [PubMed] Journal Article
Wilke RA, Xu H, Denny JC, Roden DM, Krauss RM, McCarty CA, Davis RL, Skaar T, Lamba J, Savova G . The emerging role of electronic medical records in pharmacogenomics. Clin Pharmacol Ther, 89 (3):379-86. 2011. [PubMed Central] Journal Article

Trinidad, S. B., Fullerton, S. M., Bares, J. M., Jarvik, G. P., Larson, E. B., & Burke, W. (2010). Genomic research and wide data sharing: views of prospective participants. Genetics in Medicine, 12(8), 486–95. doi:10.1097/GIM.0b013e3181e38f9e

[NIH Public Access]
Journal Article
Chute CG, Beck SA, Fisk TB, Mohr DN . The Enterprise Data Trust at Mayo Clinic: a semantically integrated warehouse of biomedical data. J Am Med Inform Assoc, 17 (2):131-5. 2010. [PubMed Central] Journal Article
Chute CG, Pathak J, Savova GK, Bailey KR, Schor MI, Hart LA, Beebe CE, Huff SM . The SHARPn project on secondary use of Electronic Medical Record data: progress, plans, and possibilities. AMIA Annu Symp Proc, 2011 248-56. 2011. [PubMed Central] Journal Article

Kullo, I. J. & Cooper, L. T. Early identification of cardiovascular risk using genomics and proteomics. Nat. Rev. Cardiol. 7, 309–17 (2010).

[PubMed Central]
Journal Article
Clayton EW, Smith M, Fullerton SM, Burke W, McCarty CA, Koenig BA, McGuire AL, Beskow LM, Dressler L, Lemke AA, Ramos EM, Rodriguez LL et al. Confronting real time ethical, legal, and social issues in the Electronic Medical Records and Genomics (eMERGE) Consortium. Genet Med, 12 (10):616-20. 2010. [PubMed] Journal Article

Kho, A. N. et al. Electronic medical records for genetic research: results of the eMERGE consortium. Sci. Transl. Med. 3, 79re1 (2011).

Journal Article

Conway, M., et al. (2011). "Analyzing the heterogeneity and complexity of Electronic Health Record oriented phenotyping algorithms." AMIA Annu Symp Proc 2011: 274-283. [PubMed]

[PubMed]
Journal Article

Kho, A. N. et al. Use of diverse electronic medical record systems to identify genetic risk for type 2 diabetes within a genome-wide association study. J. Am. Med. Informatics Assoc. 19, 212–8 (2012).

[PubMed]
Journal Article
Turner S, Armstrong LL, Bradford Y, Carlson CS, Crawford DC et al. Quality control procedures for genome-wide association studies.. Curr Protoc Hum Genet, Chapter 1 Unit1.19. 2011. [PubMed] Journal Article

Displaying 401 - 500 of 1985 publications.

Last updated: January 24, 2019