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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.

Search

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.

Ormond, K. E. et al. Medical and graduate students’ attitudes toward personal genomics. Genet. Med. 13, 400–8 (2011).

[PubMed]
Journal Article

Floyd, E., Allyse, M. A., & Michie, M. (2016). Spanish- and English-Speaking Pregnant Women's Views on cfDNA and Other Prenatal Screening: Practical and Ethical Reflections. J Genet Couns, 25(5), 965-977. doi:10.1007/s10897-015-9928-3

[PubMed]
Journal Article

Murdoch, C. E. & Scott, C. T. Stem cell tourism and the power of hope. Am. J. Bioeth. AJOB 10, 16–23 (2010).

[PubMed]
Journal Article

Harvey, H., Havard, M., Magnus, D., Cho, M. K. & Riedel-Kruse, I. H. Innocent fun or ‘microslavery’? An ethical analysis of biotic games. Hastings Cent. Rep. 44, 38–46

[PubMed]
Journal Article

Murdoch, C. E. & Scott, C. T. Response to open peer commentaries on “Stem cell tourism and the power of hope”. Am. J. Bioeth. AJOB 10, W1–3 (2010).

[PubMed]
Journal Article

Steinbach, R. J., et al. (2016). ""This lifetime commitment": Public conceptions of disability and noninvasive prenatal genetic screening." Am J Med Genet A 170a(2): 363-374. [PubMed]

[Wiley Online Library]
Journal Article
Frueh FW, Greely HT, Green RC, Hogarth S, Siegel S . The future of direct-to-consumer clinical genetic tests. Nat Rev Genet, 12 (7):511-5. 2011. [PubMed] Journal Article
Allyse M, Milner LC, Cho MK . Ethics watch: the G.I. genome: ethical implications of genome sequencing in the military. Nat Rev Genet, 12 (9):589. 2011. [PubMed] Journal Article
Wade CH, Wilfond BS . Ethical and clinical practice considerations for genetic counselors related to direct-to-consumer marketing of genetic tests. Am J Med Genet C Semin Med Genet, 142C (4):284-92, discussion 293. 2006. [PubMed] Journal Article
Ashley EA, Butte AJ, Wheeler MT et al. Clinical assessment incorporating a personal genome. Lancet, 375 (9725):1525-35. 2010. [PubMed] Journal Article

Wheeler, M., et al. (2009). "A new era in clinical genetic testing for hypertrophic cardiomyopathy." J Cardiovasc Transl Res 2(4): 381-391. [PubMed]

[PubMed]
Journal Article
Austin MA, Hair MS, Fullerton SM . Research guidelines in the era of large-scale collaborations: an analysis of Genome-wide Association Study Consortia.. Am J Epidemiol, 175 (9):962-9. 2012. [PubMed] Journal Article

Scott, C. T., DeRouen, M. C. & Crawley, L. M. The Language of Hope: Therapeutic Intent in Stem-Cell Clinical Trials. AJOB Prim. Res. 1, 4–11 (2010).

[Taylor & Francis Online]
Journal Article
Cho M . Patently unpatentable: implications of the Myriad court decision on genetic diagnostics. Trends Biotechnol, 28 (11):548-51. 2010. [PubMed] Journal Article
Greely H, King J . The coming revolution in prenatal genetic testing. Professional ethics report : newsletter of the American Association for the Advancement of ScienceProf Ethics Rep, 23 (2):1-8. 2010. Journal Article
Wilcken B . Ethical issues in genetics. J Paediatr Child Health, 47 (9):668-71. 2011. [PubMed] Journal Article
Greely HT, Cho MK, Hogle LF, Satz DM . Thinking about the human neuron mouse. Am J Bioeth, 7 (5):27-40. 2007. [PubMed] Journal Article

Simon, B. M. & Scott, C. T. Unsettled expectations: how recent patent decisions affect biotech. Nat. Biotechnol. 29, 229–30 (2011).

[PubMed]
Journal Article
Greely HT . From Nuremberg to the Human Genome: The Rights of Human Research Participants. In Rubenfeld S Medicine After the Holocaust: From the Master Race to the Human Genome and Beyond. New York, NY: Palgrave Macmillan. 185-200. 2010. Book Chapter
Brown T, Murphy E . Through a scanner darkly: functional neuroimaging as evidence of a criminal defendant's past mental states. Stanford Law Rev, 62 (4):1119-1208. 2010. [PubMed] Journal Article

Allyse, M. A. et al. Best ethical practices for clinicians and laboratories in the provision of noninvasive prenatal testing. Prenat. Diagn. 33, 656–61 (2013).

[PubMed]
Journal Article
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

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.

Cho, M. K., et al. (2008). "Research ethics consultation: the Stanford experience." Irb 30(6): 1-6. [PubMed]

 

[PubMed]
Journal Article

Greely HT. The Uneasy Ethical and Legal Underpinnings of Large-Scale Genomic Biobanks. ANN. REV. HUM GENETICS & GENOMICS, 8:343-364. 2007.

[PubMed]
Journal Article

Tischler, R., Hudgins, L., Blumenfeld, Y. J., Greely, H. T., & Ormond, K. E. (2011). Noninvasive prenatal diagnosis: pregnant women’s interest and expected uptake. Prenatal Diagnosis, 31(13), 1292–9. Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/22028097

[PubMed]
Journal Article
Tobin SL, Lee SS-J, Greely HT, Cho MK . Not a loophole: commercial exploitation of an IRB error. PLoS Genet, 2010. [Full Text] Journal Article

Sankar, P., Cho, M. K., Wolpe, P. R. & Schairer, C. What is in a cause? Exploring the relationship between genetic cause and felt stigma. Genet. Med. 8, 33–42 (2006).

[Nature]
Journal Article

Shirts, B. H. & Parker, L. S. Changing interpretations, stable genes: responsibilities of patients, professionals, and policy makers in the clinical interpretation of complex genetic information. Genet. Med. 10, 778–83 (2008).

[PubMed]
Journal Article

Tabor, H. K. & Cho, M. K. Ethical implications of array comparative genomic hybridization in complex phenotypes: points to consider in research. Genet. Med. 9, 626–631 (2007).

[PubMed]
Journal Article

Ormond, K. E., Cirino, A. L., Helenowski, I. B., Chisholm, R. L. & Wolf, W. A. Assessing the understanding of biobank participants. Am. J. Med. Genet. Part A 149A, 188–98 (2009).

[PubMed]
Journal Article

Ormond, K. E. et al. Information preferences of high literacy pregnant women regarding informed consent models for genetic carrier screening. Patient Educ. Couns. 75, 244–50 (2009).

[PubMed]
Journal Article

Ohata, T., Tsuchiya, A., Watanabe, M., Sumida, T. & Takada, F. Physicians’ opinion for “new” genetic testing in Japan. J. Hum. Genet. 54, 203–8 (2009).

[PubMed]
Journal Article

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

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

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.

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

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

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.

Zuvich RL, Armstrong LL, Bielinski SJ, Bradford Y, Carlson CS, Crawford DC et al. Pitfalls of merging GWAS data: lessons learned in the eMERGE network and quality control procedures to maintain high data quality. Genet Epidemiol, 35 (8):887-98. 2011. [PubMed] 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

Peissig, P. L. et al. Importance of multi-modal approaches to effectively identify cataract cases from electronic health records. J. Am. Med. Informatics Assoc. 19, 225–34 (2012).

[PubMed]
Journal Article

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