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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 here.

  • 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 here.

Search

ADEBAMOWO, Clement - West African Bioethics Training Program [R25 TW007091]

Accompanying the increase in research activities worldwide, particularly in developing countries where the citizens are poor, vulnerable and un-empowered, is increasing concern about the ethical nature of these studies, the rights of participants, the need to protect vulnerable populations, issues relating to benefitssharing, equity and justice. It has therefore become necessary to equip researchers, particularly in developing countries with state-of-the-art knowledge of research ethics. In addition, it is necessary to help institutions in developing countries to develop ethics boards as well as increase the knowledge and access of such ethics boards to current knowledge about research ethics especially as this relates to International Collaborative Research. As part of these efforts, we are proposing a plan that will lead to the establishment of postgraduate training program in Research Bioethics in Nigeria and West Africa. We propose to build on the result of previous International Bioethics Education and Career Development Awards funded by Fogarty Institute that has led to the training of some faulty members at the University of Ibadan, on-going research in bioethics and other fields, the association between the University of Ibadan and the West African Postgraduate Colleges of Surgery, Nursing and Physic. We will identify the needs for bioethics training in Nigeria and West Africa; develop culturally sensitive and contextually relevant case studies and training curriculum; conduct bioethics training for members of institutional review boards and directors of clinical training and research of biomedical institutes in Nigeria, initially, and later other parts of West Africa; train medical, dental and nursing students in bioethics and prepare an application for a full training grant. This planning grant will support the establishment of the first systematic training program in research bioethics particularly as it relates to International Research in West Africa where 35 percent of all Africans reside.

Adebamowo CA. West African Bioethics Training Program: Raison D'être. Afr J Med Med Sci. 2007;36 Suppl:35-8.

[PubMed]
Journal Article

Eyelade, O. R., et al. (2011). "An appraisal of the process of protocol review by an ethics review conmmittee in a tertiary institution in Ibadan." Afr J Med Med Sci 40(2): 163-169. [PubMed]

[PubMed]
Journal Article

Ogundiran, T. O. & Adebamowo, C. A. Surgeons’ opinions and practice of informed consent in Nigeria. J. Med. Ethics 36, 741–5 (2010).

[Journal of Medical Ethics]
Journal Article

Kaye, J. et al. Research priorities. ELSI 2.0 for genomics and society. Science (80-. ). 336, 673–4 (2012).

[PubMed]
Journal Article

Winkelman C. Invited topic. Inflammation and Genomics in the Critical Care Unit. Critical Care Nursing Clinics of North America. 2008 Jun;20(2):213-21,

[PubMed]
Journal Article

Fanshawe, TR., Prevost, AT, Roberts, JS, Green, RC, Armstrong, D, Marteau, TM. Explaining Behavior Change after Genetic Testing: The Problem of Collinearity between Test Results and Risk Estimates. Genetic Testing, 12(3):381-386. 2008.

[PubMed Central]
Journal Article

AHN, Woo-K Young - Understanding/Promoting Mental Health Literacy Based on Biological Explanations [R01 HG007653]

As clinical neuroscience rapidly progresses, mental disorders are increasingly explained in terms of biological mechanisms (e.g., depression is caused by chemical imbalances). The proposed project will examine (i) whether laypeople and practicing clinicians are open to such biological explanations, (ii) how biological explanations impact opinions about mental disorders among clinicians and those who display symptoms, and (iii) how negative effects of biological accounts can be reduced. (i) Is mental health literacy in state to readily accept new neurobiological accounts of mental disorders? Both laypeople and clinicians will read about patients and rate biological or non-biological causes with respect to convincingness, or usefulness in clinical practice. The proposed project will test preliminary data suggesting that biological accounts are more convincing when a mental disorder is already viewed as more biologically rooted (e.g., schizophrenia), but not when a disorder is considered to be more psychological (e.g., social phobia). Identifying such obstacles for improving mental health literacy among clinicians and laypeople is imperative in finding ways to effectively disseminate new biological explanations to them. (ii) What are the effects of biological accounts of mental disorders? Although biological attributions of mental disorders were initially thought to decrease prejudice against mental disorders by reducing the blame placed on patients, recent studies reported that biological accounts can make those with disorders appear more dangerous and unchangeable, leading to increased prejudice. Unlike previous studies, the proposed project will investigate the effects of biological attributions of mental disorders in clinicians and in people with mental disorder symptoms. For instance, the proposed project will validate alarming preliminary results indicating that when people with depressive symptoms attribute their symptoms to biological factors, they become more pessimistic about their prognoses and feelings of control over their symptoms. Also, preliminary results in practicing clinicians show that biological explanations can make them less empathetic toward hypothetical clients with mental disorders. These results highlight perils in blindly disseminating biological information. (iii) How can we combat negative effects of biological explanations in disseminating such information to the general public and clinicians? Recently, we found that providing treatability information was effective in reducing social distance when a mental disorder was described as caused by biological factors but not when caused by non- biological ones. The proposed project will further examine whether information on the efficacy of medications may be more effective in reducing prejudice against biologically rooted mental disorders, and information on efficacy of psychotherapy in reducing prejudice against non-biologically rooted ones. In addition, the proposed project will examine whether pessimistic prognoses associated with biological explanations could be reduced by teaching laypeople with depressive symptoms about neural plasticity (e.g., brains are malleable) and epigenetic (e.g., genes do not predetermine one's condition). PUBLIC HEALTH RELEVANCE: Mental illnesses are increasingly described as disorders of the brain, caused by biological factors, such as chemical imbalances or genes. While such portrayals can reduce the extent to which mentally ill people are blamed for their condition, biomedical accounts of mental illness can be associated with pessimism about prognoses as well as a greater desire to distance oneself from people with a mental illness (Deacon & Baird, 2009; Pescosolido et al., 2010). The proposed project will examine whether similar negative effects are present among practicing clinicians and people who show signs of mental disorders, and also to devise strategies to combat such negative effects.

Kim, N. S., Ahn, W.-k., Johnson, S. G. B., & Knobe, J. (2016). The influence of framing on clinicians’ judgments of the biological basis of behaviors. Journal of Experimental Psychology: Applied, 22(1), 39-47.
http://dx.doi.org/10.1037/xap0000070

[PubMed Central]
Journal Article

AMUNDSON, Ronald - Why Do Disability Activists Reject the Genome Project? [R03 HG003632]

The ELSI program of the Human Genome Project has successfully calmed the fears of most constituents regarding the potential for a "eugenic" misuse of modern genetic technology. However, one constituency still has major fears regarding the HGP and eugenics. This is the disability rights (DR) community. DR critiques of the HGP are based on a distinct concept of disability from that of mainstream medicine including most supporters of the HGP. According to the DR concept, the disadvantages of disability are caused by social and physical barriers to inclusion of people with disabilities, not to any inherent disadvantage from impairments alone. This is contrary to the assumptions of many bioethical writings that favor the HGP. For this reason, tension has arisen between some bioethicists and DR activists, and the writings of these bioethicists do not allay the concerns of the DR community with respect to the "eugenic" aims of the HGP. This project will investigate the conceptual foundations of the traditional view of disability, characterized as the "Medical Model" of disability by DR activists (according to which disadvantages are inherent to an impaired state) and the DR "Social Model" (according to which disadvantages are socially caused). Because this clash may be a true impasse, alternative ways of conceiving the problem will be studied. The project will attempt to find ways of articulating the nature of disability and the goals of the HGP so that the social and political goals of the disability rights movement may be seen to be consistent with the Human Genome Project.

Admunson, R, Tresky, S. Bioethics and disability rights: Conflicting values and perspectives. Journal of Bioethical Inquiry, 5(2-3):111-123. 2008.

[Georgetown GenETHX]
Journal Article

ANDERSON, Gwen - Genetics in Nursing Literature and Continuing Education [R25 HG001685]

This project is a case study in dissemination of emerging knowledge in genetics for utilization in nursing as a practice discipline. The ultimate purpose of this project is to increase dissemination and utilization of genetic knowledge by as many as 25 to 50 percent of the nation's 2.2 million practicing nurses. The aims are to: (1) Conduct a comprehensive integrative review of the nursing and genetics literature not only to understand its evolution, but also to predict possible future directions for nurses in delivery of genetic services in the community, industry, and tertiary care hospitals. (2) Conduct an invitational conference for nursing journal editors and leaders in continuing education to teach them state of the science knowledge so that they can develop a strategic agenda, set priorities, and come to consensus on methods to disseminate knowledge to their memberships and readerships in a manner that appeals to different needs and learning styles of students, practitioners, educators, administrators, researchers, and nursing's policy-makers. (3) Disseminate knowledge obtained from the literature review, the educational conference, and discussants who access an Internet LISTSERV. Each method for dissemination this knowledge is evaluated for its effectiveness to further enhance dissemination and utilization of his new knowledge to a wider nursing audience.

Anderson, G. "State of the science: Social, psychological, ethical nursing research in genetics." Biological Research for Nursing. 1999; 1(2): 133-146.

[PubMed]
Journal Article

Anderson, G., C. Yetter Read, R. Monsen. "Genetics, nursing and public policy: Setting an international agenda." Policy, Politics and Nursing Practice. 2000; 1(4): 245-255.

[Abstract]
Journal Article

ANDREWS, Lori - Conceptual Frameworks for Genetics Policy [R01 HG001277]

The purpose of this project is to analyze various conceptual frameworks for the development of policy with respect to genetics research, counseling, testing, screening, treatment and use of genetic information. The project will explore several theoretical models for overall regulation of medical genetics: the individual health model, the fundamental rights model, the public health model, and the equal opportunity model. The project will undertake an extensive review of relevant sociological, anthropological, psychological, economic and other empirical studies to analyze the likely impact on individuals of adopting one model versus another. Through these efforts, the project will provide a foundation for policy development in the genetics field so that each new issue will not need to be approached on an ad hoc basis. The project will result in a series of policy-oriented articles in the medical, legal, and health policy literatures; presentations to professional and academic groups; and a book that provides an analysis of the impact of genetics research and services on individuals, an analysis of proposed and existing policies addressed to the potential risks that genetics research and services present for individuals, and a theoretical analysis for developing the most appropriate approaches to genetics policies.

Andrews, L.B. "Compromised Consent: Deficiencies in the Consent Process for Genetic Testing." Journal of the American Medical Women's Association. 1997; 52(1): 39-42, 44.

[PubMed]
Journal Article

Andrews, L.B. "Past as Prologue: Sobering Thoughts about Genetic Enthusiasm." Seton Hall Law Review. 1997; 27(3): 893-918.

[PubMed]
Journal Article

Andrews, L.B. "Predicting and Punishing Anti-Social Acts." Behavioral Genetics: The Clash of Culture and Biology. R.A. Carson, M. Rothstein, F.E. Bloom, eds. Baltimore, MD; Johns Hopkins University Press, 224p. May 1999.

Book Chapter

Andrews, L.B. "Genetic Fallout: New Technologies Are Changing the Legal Landscape." Trial. 1995; 31(12): 20-27.

[PubMed]
Journal Article

Andrews, L.B. "Prenatal Screening and the Culture of Motherhood." Hastings Law Journal. 1996; 47(4): 967-1006.

[PubMed]
Journal Article
Andrews LB . Body Science. ABA J, 83 44-49. 1997. Journal Article

Andrews, L.B. "Gen-etiquette: Are There Moral and Legal Responsibilities to Share Genetic Information within Families?" Genetic Secrets: Protecting Privacy and Confidentiality in the Genetic Era. Mark Rothstein, Ed. New Haven: Yale University Press, 1997.

Book Chapter

Koenig BA, G. H. M. L. S. H. R. T. and the members of the B. C. W. G. of the S. P. in G. E. and S. Genetic Testing for BRCA1 and BRCA2: Recommendations of the Stanford Program in Genomics, Ethics, and Society. J. Women’s Heal. 7, 531–545 (1998).

[FSI Stanford]
Journal Article

ANTES, Alison L - FOSTERING INTEGRITY AND SOCIETAL IMPACT IN GENOMICS THROUGH MANAGEMENT AND LEADERSHIP PRACTICES [K01 HG008990]

Responsible conduct of research (RCR) is an essential requirement for research training in developed countries and most academic and funding institutions require researchers to obtain such training before starting a research project Jordan is one of the more academically established countries in the Middle East and North Africa (MENA) region with a high per-capita university education and progressive research agenda. It is also the hub for pharmaceutical drug development with over 20 companies generating generic drugs and exporting it to the region and globally. Jordanian pharmaceutical companies involve 7 Contract Research Organizations (CROs) in Jordan to conduct clinical drug trial and related human research. Non-communicable diseases (NCDs) are the leading cause of death in Jordan because of shifts to a Western lifestyle and better control of communicable diseases. Jordan has one of the highest smoking and obesity rates in the MENA region, which are the leading risk factors for NCDs. The training of researchers in the responsible conduct of research is essential for population public health research in prevention and clinical trials related to treatment of NCDs. However, research without appropriate ethical standards and training of researchers can produce e harm rather than benefit. Jordan does not have training in the area of responsible conduct of research and research ethics that is comparable to Western and more developed countries. Training the next generation of research scientists in Jordan will require sustained effort in research ethics training. The aims of this proposal are: To build capacity of individual learners by creating a master's level research ethics curriculum with a focus on public health and clinical drug trials; To develop institutional capacit by using a step- wise teaching methodology to deliver knowledge to learners; To develop regional capacity by translating curricular and educational material from English to Arabic; Create a database of research ethics case studies; and To establish a mentoring mechanism to continue the engagement of graduates. This program will be able to develop a new cadre of research ethics expertise in Jordan and the region. A minimum of 120 such graduates are expected to finish the program with a graduate-level certificate in research ethics. This will involve capacity building of the main partnering academic institution in Jordan, the Jordan University of Science and Technology which is among the highest ranking research university in Jordan and the region. This will provide the required paradigm shift in research ethics among researchers in Jordan and the region and promote further research productivity and provides better protection of research subjects but also raise the standard of RCR to be at the international level. The overarching goal of the program is to enable participants to make ethical decisions based on increased knowledge of acceptable standards of scientific conduct and integrity. While achieving this goal, the program will develop institutional and regional capacity n teaching methods and RCR.

Antes AL, DuBois JM. . Cultivating the Human Dimension in Research. Mol Cell, 2018. [PubMed] (Mol Cell. 2018 Oct 18;72(2):207-210. doi: 10.1016/j.molcel.2018.09.015.) Journal Article

APPLEBAUM, Paul - Center for Research on the Ethical, Legal and Social Implications of Psychiatric [P50 HG007257]

This application proposes the establishment of a Center for Research on the Ethical, Legal and Social Implications of Psychiatric, Neurologic and Behavioral (PNB) Genetics at Columbia University Medical Center (CUMC). Since April 2010, we have been funded under a P20 Developing Center grant to create the infrastructure and begin development of such a Center. PNB genetics present particular ethical, legal and social challenges because of the highly stigmatized nature of many PNB disorders and traits; the potential impact of genetic predispositions for PNB disorders and traits on perceptions of responsibility for behavior; and the complex interactions between genetic propensities and environmental influences that determine the onset and course of many PNB disorders, rendering the implications of many PNB genetic data inherently ambiguous. Our new Center will promote thoughtful consideration of the range of issues arising in the context of PNB genetics and develop innovative approaches to addressing them. Specifically, we will undertake a focused program of research that explores the impact of PNB genetic information at the individual, familiar and societal levels, considering its effects on stigma and self-image, attributions of responsibility, and responses to ambiguity, along with systematic consideration of the broader normative and policy implications of our findings. To maximize the value of our research, we will create robust mechanisms to translate the empirical and normative output of our research into recommendations for policy and practice, capitalizing on the involvement of other experts and key stakeholder groups. With an eye on the future of ELSI studies, we will develop a multidisciplinary post-doctoral training program focused on nurturing future leaders in ELSI research, creating an environment that facilitates cross-disciplinary learning and research and draws on outstanding mentors and teachers. In sum, we will create a structure that builds on our existing strengths and accomplishments to enhance transdisciplinary collaboration, facilitate the conduct of innovative research, and foster intellectual growth among both faculty and trainees. PUBLIC HEALTH RELEVANCE: Exciting advances in PNB genetics have improved understanding of the genetic bases for many psychiatric, neurodevelopmental, and neurodegenerative disorders. Rapid development of techniques for accessing this information, including non-invasive prenatal sequencing, promises to make PNB genetic data much more widely available. Hence, consideration of the ethical, legal and social impact of these data and identification of better means of dealing with them are of critical and urgent importance to public health and well-being.

Maya Sabatello, Paul S. Appelbaum . The Precision Medicine Nation. Hastings Center Report, 2017. [PubMed] (Hastings Cent Rep. 2017 Jul;47(4):19-29. doi: 10.1002/hast.736.) Journal Article

Klitzman, R. et al. Psychiatrists’ views of the genetic bases of mental disorders and behavioral traits and their use of genetic tests. J. Nerv. Ment. Dis. 202, 530–8 (2014).

[PubMed]
Journal Article
Henderson GE, Wolf SM, Kuczynski KJ, Joffe S, Sharp RR, Parsons DW, Knoppers BM, Yu JH, Appelbaum PS . The challenge of informed consent and return of results in translational genomics: empirical analysis and recommendations.. J Law Med Ethics, 42 (3):344-55. 2014. [SAGE] 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

Oberg, J. A. et al. Overcoming challenges to meaningful informed consent for whole genome sequencing in pediatric cancer research. Pediatr. Blood Cancer 62, 1374–80 (2015).

[PubMed]
Journal Article

Parens, E. Drifting Away from Informed Consent in the Era of Personalized Medicine. Hastings Cent. Rep. 45, 16–20

[PubMed]
Journal Article

Schiffman, J., Lawrence, R. E., Demro, C., Appelbaum, P. S., & Dixon, L. B. (2016). Attitudes towards cannabis use and genetic testing for schizophrenia. Early Interv Psychiatry, 10(3), 220-226. doi:10.1111/eip.12164

[PubMed]
Journal Article

Klitzman, R., Appelbaum, P. S. & Chung, W. K. Should life insurers have access to genetic test results? JAMA 312, 1855–6 (2014).

[PubMed]
Journal Article
Caminiti CB, Hesdorffer DC, Shostak S, Goldsmith J, Sorge ST, Winawer MR, Phelan JC, Chung WK, Ottman R . Parents' interest in genetic testing of their offspring in multiplex epilepsy families.. Epilepsia, 57 (2):279-87. 2016. [Wiley Online Library] Journal Article
Ottman R, Freyer C, Mefford HC, Poduri A, Lowenstein DH; Epilepsy Return of Results Workshop Participants. . Return of individual results in epilepsy genomic research: A view from the field.. Epilepsia, 2018. [PubMed] (Epilepsia. 2018 Sep;59(9):1635-1642. doi: 10.1111/epi.14530. Epub 2018 Aug 10.) Journal Article

Am J Bioeth. 2017 Apr; 17(4): 27–29.
doi: 10.1080/15265161.2017.1284925

[PubMed Access]
Journal Article
Sabatello, M . Precision medicine, health disparities, and ethics: the case for disability inclusion. Genet Med, 20 (4):397-399. 2017. [PubMed] Journal Article

Appelbaum, P. S. and S. Benston (2017). "Anticipating the Ethical Challenges of Psychiatric Genetic Testing." Curr Psychiatry Rep 19(7): 39. [PubMed]

[PubMed]
Journal Article

APPLEBAUM, Paul - Center for ELSI Research on Psychiatric Neurologic and Behavioral Genetics [P20 HG005535]

Research on the genetics of Psychiatric, Neurologic, and Behavioral (PNB) phenotypes reveals a panorama of complexity that creates several challenges: 1) the data are difficult for clinicians to assimilate and integrate into their practices, and even more so for patients and other members of society to understand and use; 2) because the traits investigated by PNB geneticists often have significance for our self-perceptions, new data can challenge our self-images in fundamental ways. In response to these challenges, with the objective of helping clinicians, patients and their families, and the general public better use evolving knowledge, we propose to develop the framework for a Center of Excellence in ELSI Research (CEER) on PNB Genetics. Over a 3-year period, we will use NHGRI support to accomplish the following: Specific Aim 1 - Conduct pilot studies on ethical, legal and social issues in PNB genetics aimed at identifying productive areas of investigation for a CEER at Columbia University. Pilot studies will use internet-based surveys and direct interviews to examine (a) how clinicians understand and use genetic tests for PNB phenotypes (including preimplantation genetic diagnosis and prenatal genetic testing); (b) the impact of genetic information on patients' and families' self-image, fatalism, help-seeking, and other health behaviors, and modifying factors, including ethnicity; and (c) how PNB genetic data affect judgments of moral and criminal responsibility (i.e., guilt and sentencing for crimes by persons with genetic propensities to criminal behavior). Specific Aim 2 - Develop the intellectual and administrative infrastructure necessary to support the formulation of a P5O application for a CEER focused on PNB genetics. To accomplish this, we will knit together faculty with backgrounds in medicine, public health, genetic counseling, psychology, sociology, law, social work, and other areas of study. Specific Aim 3 - Design training activities, in collaboration with other institutions that will enable a Columbia CEER to conduct effective training of future ELSI investigators, with a particular focus on under-represented minority populations. Our geographic situation in NYC, with its enormous concentration of medical centers and educational institutions, will allow us to work with our colleagues at the other CTSA sites in the city to make our training opportunities available to their trainees and investigators. RELEVANCE: As the genetic variants predisposing to psychiatric, neurologic and behavioral disorders are identified, clinicians, patients/families, and the public need to be able to use this information to make good decisions, e.g., about testing, reproduction, and public policy. A CEER focused on these issues and capable of generating meaningful research data, can identify current challenges, and help suggest solutions.

De Vries, R. et al. Public’s approach to surrogate consent for dementia research: cautious pragmatism. Am. J. Geriatr. Psychiatry 21, 364–72 (2013).

[PMC]
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

Palmer, B. W. et al. Neuropsychological correlates of capacity determinations in Alzheimer disease: implications for assessment. Am. J. Geriatr. Psychiatry 21, 373–81 (2013).

[PMC]
Journal Article

Klitzman, R., Toynbee, M. & Sauer, M. V. Controversies concerning mitochondrial replacement therapy. Fertil. Steril. 103, 344–6 (2015).

[PubMed]
Journal Article

APPLEBAUM, Paul - Challenges of Informed Consent in Return of Data from Genomic Research [R21 HG006596]

Genomic data, including findings incidental to the purpose for which a study is undertaken, can contain information of use and importance to research subjects related to their health, lifestyle, and reproductive choices. A growing consensus of expert groups is that at least some information from genomic studies should be available to participants. It seems clear that return of results from genomic studies should and will require the informed consent of research subjects. However, there are a number of challenging issues that must be addressed with regard to obtaining meaningful consent from subjects, including the content of the consent process, minimizing adverse consequences from an expanded consent process, special issues relating to biobanked samples, and considerations regarding children, decisional impaired persons, and deceased subjects. The aims of this study are: 1) To develop a menu of potential approaches for dealing with the key challenges regarding informed consent that must be addressed before widespread efforts to return genomic data are put into place, based on an analytic review of the normative and empirical literatures; 2) To obtain the perspectives of genomic investigators and research subjects on these issues, their suggestions for addressing them, and their thoughts about the menu options, in a series of semi- structured interviews and surveys; 3) To formulate a series of discussion papers that outline the challenges, consider the options for response, offer recommendations for realistic approaches to address these challenges, and suggest a policy-relevant research agenda. To address the complex challenges of informed consent, the research team will use a combination of analytic and empirical strategies. Based on an analysis of the existing literature, we will develop menus of alternative approaches to consent in commonly occurring genomic research situations. The menus of options for these situations will then form the basis for semi-structured interviews and internet-based surveys of genomic researchers and research subjects to identify the probable advantages and disadvantages of the alternative approaches. Integrating these data into the previously developed analysis of alternatives, realistic options will be identified. When neither normative argument nor empirical evidence allows plausible conclusions to be drawn about the most desirable options, suggestions will be offered regarding further normative and empirical investigation. Findings will be embodied in a set of three discussion papers that will be reviewed by experts in genomic research and bioethics. After incorporating their feedback, the papers will be made available on the internet, submitted for publication in the medical and bioethical literatures, and presented at relevant professional meetings. PUBLIC HEALTH RELEVANCE: Genomic data can contain information of use and importance to research subjects related to their health, lifestyle, and reproductive choices. Although there is a growing consensus that at least some information from genomic studies should be available to participants, there are a number of challenges to obtaining informed consent from research subjects for that purpose. This study is aimed at elucidating those challenges, identifying options for dealing with them, obtaining feedback from key stakeholders about those options, and formulating recommendations for the field as to how challenges to meaningful informed consent can be met.

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

Henderson, G. E. et al. The challenge of informed consent and return of results in translational genomics: empirical analysis and recommendations. J. Law. Med. Ethics 42, 344–55 (2014).

[PubMed]
Journal Article

ARAR, Nedal - Beliefs and Attitudes Towards Hereditary Prostate Cancer [F32 HG000191]

This study will investigate the opinions of individuals from prostate cancer families ascertained in an ongoing prostate cancer family study, conducted since 1996 in San Antonio, Texas. Fifteen prostate cancer patients and 30 (healthy) first degree relatives will be interviewed to investigate their beliefs, attitudes, and perceptions towards prostate cancer, genetic risk, and genetic testing. The application of clinically applied medical anthropology for the designing of an interview with open-ended questions will provide the investigator with the necessary flexibility to explore a wide range of participants' opinions. Interviews will be analyzed using qualitative methods. Variables obtained from this 'qualitative analysis' will be analyzed with statistical methods in an exploratory way.

Plaetke R., Thompson I., Sarosdy M., Harris J.M., Troyer D., Arar, N.H. "Genetic fieldwork for hereditary prostate cancer studies." Urologic Oncology. 2002; 7(1): 19-27.

[PubMed]
Journal Article

ARAR, Nedal - Cultural and Ethical Issues in Genetic Family Studies [R03 HG002381]

This anthropological study is designed to: (1) determine whether subjects' beliefs about the hereditary aspects of DN influence participation in genetic family studies (GFS), (2) explore subjects' opinions and awareness of ethical issues and risks related to their participation, and (3) analyze ethnic differences in attitudes towards participation in GFS. This project will combine qualitative and quantitative methods to determine the generalizability of the qualitative findings and enhance the interpretability of the quantitative data. The study will be conducted in two phases: The Qualitative Phase I (24 months) will be based on an exploratory design using ethnographic methods of open-ended questions, probing, and participant observation. We will recruit subjects from the ongoing Family Investigation of Nephropathy and Diabetes (FIND) study at the University of Texas Health Science Center at San Antonio (UTHSCSA). Semi- structured interviews will be performed with 40 diabetic nephropathy (DN) patients with a family history of type 2 diabetes mellitus (T2DM) and 40 of their relatives. An additional 20 DN patients with no family history of T2DM will be included. Most interviews will be conducted at UTHSCSA and last about 60 minutes. They will be tape-recorded, transcribed and content- analyzed to identify themes across cases. Based on these themes, we plan to develop a quantitative questionnaire that will first be tested, validated, revised and applied to participants of different ethnic origins enrolled in our Center. In the Quantitative Phase II (36 months), we will mail this questionnaire to a larger population participants (about 700) of different ethnic origins enrolled in other participating centers of FIND. Data analysis for this Phase will include both univariate and mutlivariate statistics. The statistical packages SAS and MINITAB will be utilized to perform these analyses. The investigators expect to obtain data on: (1) subjects' beliefs about genetic diseases and participation in GFS. (2) recruiters' perspective on family enrollment. (3) association of participants' responses with demographic characteristics. (4) ethnic differences in attitudes towards participation in GFS.

Arar N.H., Plaetke R., Arar M.Y. et al. "Incorporating the Contextual Assessment Approach to regimens used in genetic family studies." Genetics in Medicine. 2002; 4(6): 451-63.

[PubMed]
Journal Article

Arar N.H., Hazuda H.P., Plaetke R. et al. "Familial Clustering of Diabetic Nephropathy: Perceptions and Risk Recognition Among Mexican-American Patients With a Family History of Diabetes." Diabetes Spectrum. 2003; 16(3): 136-142.

Journal Article

ARMSTRONG, Katrina - Distrust, Race/Ethnicity, and Predictive Genetic Testing [R01 HG002689]

The overall goals of this project are to increase understanding of the nature, distribution, and correlates of trust and distrust related to predictive genetic testing and to investigate the relationship among trust/distrust, attributes of a genetic test and its delivery, and willingness to undergo predictive genetic testing. In our preliminary conceptual model, trust and distrust related to predictive genetic testing are multidimensional constructs that encompass beliefs about whether or not a predictive genetic test will be used in one's best interest. The components of these constructs are defined by how and by whom the genetic test may be used. The project focuses on African-American, Caucasian and Latino populations in order to elucidate the relationship between distrust and ethnicity/race and to address the legacy of distrust among historically disadvantaged minorities. We propose a three-phase project using qualitative and quantitative methods. In Phase One, we will refine our conceptual model through comprehensive literature review, focus groups, interviews and consultation with an expert advisory panel. In Phase Two, we will develop a psychometrically sound instrument to measure trust and distrust related to predictive genetic testing. In Phase Three, we will conduct a national survey of African-American, Caucasian, and Latino adults to measure distrust, potential correlates of distrust, and the relationship between distrust, attributes of the genetic test and its delivery, and willingness to undergo testing. To accomplish these goals, we have assembled an investigator team of experts in bioethics, genetics, psychometrics, and survey research, as well as a multidisciplinary advisory panel that includes stakeholders from the African-American and Latino communities.

Peters, N., Rose, A., Armstrong, K. "The Association between Race and Attitudes about Predictive Genetic Testing." Cancer Epidemiology Biomarkers & Prevention . 2004; 13(3): 361-5.

[PubMed]
Journal Article

ARNOS, Kathleen - Summer Program in Genetics for Audiology Faculty [R25 DC005543]

The proposed project will support an educational program in genetics for faculty of audiology training programs and audiologists from early hearing detection and intervention programs with the goal of improving training of future audiologists in the clinical, technical, ethical, social and legal issues surrounding the provision of genetic services and molecular testing for hereditary types of hearing loss. This goal will be accomplished through the following specific aims: 1) the development and implementation of a needs assessment survey of existing graduate-level training programs in audiology concerning the incorporation of genetics into their curriculum, 2) the establishment of an Advisory Board consisting of genetics professionals, audiologists, educators and bioethicists to guide the development of an educational program in genetics, 3) the implementation of a 7-day summer workshop during each of 3 consecutive summers targeted to faculty of audiology training programs as well as to audiologists from early hearing detection and intervention programs, 4) the development of an educational notebook for participants in the educational workshop containing materials which will assist them in integrating genetics information into their own curricula for audiology students and 5) the establishment of a comprehensive evaluation component to determine the effectiveness of the educational program in accomplishing the goal of the project. This project will be performed by a team of experienced geneticists, educators, evaluators and bioethicists to effectively accomplish the specific aims.

Burton SK, Blanton SH, Culpepper B, White KR, Pandya A, Nance WE, Arnos KS . Education in the genetics of hearing loss: A survey of early hearing detection and intervention programs. Genet Med, 8 (8):510-7. 2006. [PubMed] Journal Article
Arnos KS, Della Rocca MG, Karchmer MA, Culpepper B, Cohn WF . Genetics Content in the Graduate Audiology Curriculum: A Survey of Academic Programs. Am J Audiol, 13 (2):126-134. 2004. [PubMed] Journal Article

ARONOWITZ, Robert - History of Breast Cancer Risk, 1900-Present [R01 HG001837]

This project is focused on the ways in which two diagnostic technologies--screening mammography and genetic testing--emerged, diffused, interacted with medical and social thought and values, and provoked controversy. The central research questions are: What are the factors that have led to the dramatic shift in beliefs about, and practices surrounding, breast cancer risk over the past fifty years? What have been the consequences? The investigators will focus on key comparisons, transitions, and developments in the history of breast cancer risk which have produced visible, significant, and stable social responses. They will collect and examine a broad range of primary and secondary material that might yield clues to the changing perception of breast risk and its consequences. This project's underlying hypothesis is that the contemporary controversies over the proper ways to incorporate genetic testing in clinical practice, establish the meaning of genetic information, conduct research with human subjects, and protect the privacy of individuals undergoing or contemplating genetic testing are largely the result of unresolved conflicts among competing values and interests (in addition to the more evident problem of scientific uncertainty). One goal of this historical project is to make these conflicting values and interests explicit, and thus allow them to be debated and resolved and thus contribute to better integration of genetic knowledge in clinical and public health practices.

Aronowitz RA. Do not delay: Great cancer and Time, 1900-1970. Milbank Quarterly, 79(3):355-386. 2001.

[PubMed]
Journal Article

Aronowitz RA. An Unnatural History of Breast Cancer. Cambridge University Press. 2007.

Book

Aronowitz, RA. The dilemma of genetic testing: the "breast cancer gene" and the physician's role, as ethics case study. ACP Observer, 18(3):1. 1998.

Journal Article

ARONSON, Jay David - DNA Identification in the Aftermath of Genocide and Mass Violence [R03 HG004655]

Over the past two decades, forensic DNA profiling has become an important tool in the investigation of human rights abuse and genocide. There is, however, little understanding of the ethical, historical, political, psychosocial, or policy dimensions of this application of genetic technology. The lack of a well-developed body of relevant research, and few regulations to guide the implementation of humanitarian DNA identification projects, means that organizations and individuals must develop their own ad hoc rules and procedures for the identification process. The same problems have arisen in numerous situations, often leading to continued hostility and a lack of closure. This project will contribute to empirical literature on humanitarian DNA identification, and inform the development of concrete policy recommendations. Using theoretical approaches from science and technology studies, anthropology, history, subaltern studies, and studies of trauma and reconciliation, the principal investigator will systematically analyze two major cases: the use of DNA profiling by the International Commission for Missing Persons in the former Yugoslavia to identify the 40,000-plus missing people from the Balkan Wars of the 1990s; and the South African National Prosecuting Authority's efforts to locate and identify the 2000-plus missing people from the apartheid era. The specific aims are to: 1) describe the historical development of these DNA identification programs; 2) examine the ethical and political dimensions of individually identifying victims of human rights abuse; 3) investigate the psychosocial dimensions of DNA identification; and 4) analyze the impacts of DNA identification projects at the individual, community, inter-group, and political levels. This project will also explore several major ethical issues that are inextricably linked with these aims, including, for example: the role of private biotechnology companies (and the profit motive) in humanitarian projects; how to determine whether or not DNA testing is in the best interest of a particular community; balancing the evidentiary needs of the legal system with the therapeutic needs of families and communities; and what should be done about the discovery of bodies from previous conflicts that are still symbolically and politically relevant. This research will combine documentary and archival research with oral history interviews and ethnography. Care will be taken to ensure that the voices of ordinary people affected by DNA identification are heard and that their perspectives are incorporated into all final work products. In addition to being published as individual case studies, academic articles, and presentations, this research will become part of the principal investigator's larger project on science and human rights, entitled Accounting for the Dead: Science, Politics, and Identity in the Aftermath of Genocide and Mass Violence.

Wailoo, Keith; Nelson, Alondra; Lee, Catherine . Genetics and the Unsettled Past: The Collision of DNA, Race, and History. 2012. Book

ASCH, David - Prescriptive Decision Modeling for Cystic Fibrosis Screening [R01 HG000621]

Dr. Asch will be conducting a prescriptive decision analysis for CF screening programs, which will use decision theory and economic techniques to model decision-making about CF carrier testing. The decision model developed will address the following issues: who should be offered carrier testing, and the best method for testing couples; the best course and sequence of further testing and treatment following carrier screening results; re-screening individuals who have been screened in the past for CF mutations as more mutations are uncovered; the anticipated impact of future technologic innovation of CF testing and treatment; tradeoffs between monetary and nonmonetary effects that the alternative answers to these questions imply; and differences in responses of various groups, i.e. patients, health care providers, and insurance companies, who have varying financial, psychological, and moral perspectives. This study will provide a theoretical backdrop against which the findings of the empirical clinical studies can be analyzed.

Asch, D. et al. "Reporting the Results of Cystic Fibrosis Carrier Screening." American Journal of Obstetrics and Gynecology. 1993: 168(1, Part 1); 1-6.

[PubMed]
Journal Article

Asch, D. et al. "Clarification Needed to Cystic Fibrosis Model." American Journal of Obstetrics and Gynecology. 1993; 168; 1358-9.

[PubMed]
Journal Article

Asch, D.A., J.C. Hershey, M.L. DeKay et al. "Carrier Screening for Cystic Fibrosis: Costs and Clinical Outcomes." Medical Decision Making. 1998; 18(2): 202-12.

[PubMed]
Journal Article

ASCH, David - How Much Information about the Risk of Cystic Fibrosis Do Couples Want to Know? [R01 HG000616]

To complement his theoretical work, Dr. Asch will also be leading a project to assess the amount of information that couples desire about the risk of CF. The appropriate timing of CF carrier screening, as well as the amount that should be performed, will be investigated. The research team will analyze the decision-making processes of couples who are offered CF carrier testing one partner at a time. In the event of a negative result for the first partner, the team will determine whether or not the couple chooses to have the second partner tested. In this way, the team will determine the utility of obtaining less than the maximum information available from screening.

Asch, D. and J.C. Hershey. "Why Some Health Policies Don't Make Sense at the Bedside." Annals of Internal Medicine. 1995; 122(11): 846-50.

[PubMed]
Journal Article

Asch, D. et al. "Genetic Screening for Reproductive Planning: Methodological and Conceptual Issues in Policy Analysis." American Journal of Public Health. 1996; 86(5): 684-90.

[PubMed]
Journal Article

ASCH, David - Genetic Testing And The Economics of Life Insurance [R01 CA082393]

The purpose of this project is to estimate the likely effects of testing for BRCA1 and BRCA2 mutations on the cost and price of life insurance contracts, under conditions where insurance companies do not have access to women's genetic test results. Contemporary debates about this issue pit women's legitimate interests in privacy against insurers' legitimate interests in financial solvency. Very little empirical work is available to move these debates beyond rhetoric and anecdote, and yet they are the centerpiece of over a dozen recent legislative bills addressing genetic privacy and discrimination. The theoretical basis for concerns about adverse selection is sound. The overall goal of this project is to determine if those theoretical problems are likely to occur in reality if BRCA 1 and 2 test information is available to women who desire it, but remains out of the reach of life insurers. The specific aims of this project are: (a) To develop a computer-based actuarial model reflecting the impact of BRCA1/2 testing on the cost of life insurance contracts. (b) To develop approximations of these outcomes based on plausible estimates for individual behavior. c) To refine those estimates based on observations of insurance purchasing decisions within a cohort of women tested for BRCA1/2 and the expressed intentions of a more broadly representative sample of US women. The results from this study will speak specifically to the actuarial implications of testing for heritable breast and ovarian cancer, but also more generally to other cancers and other genetic conditions for which predictive tests are developed.

Armstrong K, Weber B, FitzGerald G et al. Life insurance and breast cancer risk assessment: adverse selection, genetic testing decisions, and discrimination. Am J Med Genet A, 12A (3):359-64. 2003. [PubMed] Journal Article
Armstrong K, Weiner J, Weber B, Asch DA . Early adoption of BRCA1/2 testing: who and why. Genet Med, 5 (2):92-8. 2003. [PubMed] Journal Article

BAILEY, Donald - ELSI Scale-Up: Large Sample Gene Discovery & Disclosure [P20 HG003387]

This proposal rests on the assumption that rapid expansion of large sample gene discovery and disclosure projects raise major ethical, legal, social and policy challenges, to such an extent that it constitutes a significant and urgent public health need. Recognizing the urgency of these challenges, and drawing on three unique projects at UNC-CH involving large-sample gene discovery and disclosure, we request funding for a two_year Exploratory (P20) grant to conduct the planning necessary to create a Center of Excellence on ELSI Issues in Large Sample Gene Discovery and Disclosure. Our goal is to develop an infrastructure to maximize collaborative research, create partnerships with relevant constituencies, identify critical issues that must be addressed, and collect sufficient pilot data to propose a well_integrated center in which state-of-the_art ELSI research can be conducted to inform public policy. An interdisciplinary group of investigators at the University of North Carolina at Chapel Hill (UNC-CH), in partnership with key external partners, will engage in a range of activities to support five specific aims: (1) expand and strengthen an interdisciplinary team of investigators, creating an organizational structure to design and implement multi-disciplinary investigations of complex and rapidly emerging ELSI issues; (2) establish partnerships with key constituents to facilitate joint awareness of emerging ELSI issues in large sample studies, develop research collaboration, and identify effective mechanisms to disseminate research and influence policy and practice; (3) use three major projects to collect preliminary data in preparation for major research initiatives to be proposed as part of a forthcoming CEER application; (4) design a training component to enable the next generation of ELSI scholars, genome researchers, clinical and social scientists, and researchers in law, bioethics and the humanities to develop independent research programs that address important ELSI problems; and (5) fully develop a vision for a Center of Excellence application.

Bailey DB, Beskow LM, Davis AM, Skinner D. Changing Perspectives on the Benefits of Newborn Screening. Mental Retardation and Developmental Disabilities Research Reviews, 12:270-279. 2006.

[PubMed]
Journal Article
Whitmarsh I . Hyperdiagnostics: postcolonial utopics of race-based biomedicine. Med Anthropol, 28 (3):285-315. 2009. [PubMed] Journal Article
Whitmarsh I ed. Biomedical ambiguity: Race, asthma, and the contested meaning of genetic research in the Caribbean. Ithaca, NY: Cornell University Press 225. 2008. Book
Van Riper M . Family nursing in the era of genomic health care: we should be doing so much more!. J Fam Nurs, 12 (3):111-8. 2006. [PubMed] Journal Article

Torke, A. M., Corbie-Smith, G. M., & Branch, W. T. (2004). African American patients’ perspectives on medical decision making. Archives of Internal Medicine, 164(5), 525–30. Retrieved from http://archinte.jamanetwork.com/article.aspx?articleid=216784

[JAMA Internal Medicine]
Journal Article
Corbie-Smith G, Blumenthal C, Henderson GE, Garrett J, Bussey-Jones J, Moloney ME, Sandler RS, Williams Lloyd S, Dorrance J, Darter J . Studying genetic research participants: lessons from the "Learning About Research in North Carolina" study. Cancer Epidemiol Biomarkers Prev, 17 (8):2019-24. 2008. [PubMed] Journal Article
Van Riper M, Gallo A eds Crane D, Marshall E. Handbook of Families and Health: Interdisciplinary Perspectives. Thousand Oaks: Sage Publications Inc. 544. 2005. Book
Evans JP . Health care in the age of genetic medicine. Genet Med, 10 (1):1-3. 2008. [PubMed] Journal Article

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

[PubMed]
Journal Article

Sterling, R. The on-line promotion and sale of nutrigenomic services. Genet. Med. 10, 784–96 (2008).

[PubMed]
Journal Article

Skinner, D. & Weisner, T. T. S. Sociocultural studies of families of children with intellectual disabilities. Ment. Retard. Dev. Disabil. Res. Rev. 13, 302–12 (2007).

[Wiley Online Library]
Journal Article

Skinner, D. & Schaffer, R. Families and Genetic Diagnoses in the Genomic and Internet Age. Infants Young Child. 19, 16–24 (2006).

[ELSI Publications]
Journal Article

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

King NMP. Genes and TS: What will they tell us? Scientific, ethical, and social implications. In Walkup, J. (ed.): AIN: Tourette Syndrome. Lippincott Williams & Wilkins. 2006.

Book Chapter

Bailey D, Skinner D, Davis A, Whitmarsh I, Powell C. Concerns about expanded newborn screening: Fragile X syndrome as a prototype for emerging issues. Pediatrics, 121(3):693-704. 2008

[PubMed]
Journal Article

Bailey DB, Skinner D, Warren SR. Newborn Screening for Developmental Disabilities: Reframing Presumptive Benefit. American Journal of Public Health, 95(11):1889-1893. 2005.

[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

Henderson, G. E. et al. Clinical trials and medical care: defining the therapeutic misconception. PLoS Med. 4, 4 (2007).

[PubMed Central]
Journal Article

King, N. M. P. and L. Churchill (2008). "Assessing and comparing potential benefits and risks of harm." The Oxford Textbook of Clinical Research Ethics: 514-526. [ResearchGate]

Book Chapter

Kompoliti, K. (2006). "Advances in Neurology, Volume 99: Tourette Syndrome."  67(9): 1727-1728. [Neurology]

Book Chapter

Kemper, A. R. A. & Bailey, D. J. D. B. Pediatricians’ knowledge of and attitudes toward fragile X syndrome screening. Acad. Pediatr. 9, 114–7 (2009).

[PubMed]
Journal Article

Jr, D. B., Skinner, D. & Davis, A. Ethical, legal, and social concerns about expanded newborn screening: fragile X syndrome as a prototype for emerging issues. Pediatrics 121, e693 –e704 (2008).

[Pediatrics Publication]
Journal Article

Illes, J. “Pandora”s box’ of incidental findings in brain imaging research. Nat. Clin. Pract. Neurol. 2, 60–1 (2006).

[PubMed]
Journal Article

Van Riper M, Gallo A. Family, health, and genomics. In DR Crane & ES Marshall (Eds.), Handbook of families and health: Interdisciplinary perspectives. Thousand Oaks: Sage Publications Inc. 2005.

Book Chapter

King, N. M. P. (2007). "The glass house: Assessing bioethics." The Ethics of Bioethics: Mapping the Moral Landscape: 297-309. [ResearchGate]

Book Chapter

Corbie-Smith G, Moody-Ayers S, Thrasher A. Closing the circle: Minority inclusion in research and reduction of health disparities. Archives of Internal Medicine, 164(13):1362-4. 2004.

[PubMed]
Journal Article

Van Riper M. Genetic testing and the family. Journal of Midwifery and Women's Health, 50: 227-233. 2005.

[PubMed]
Journal Article

Van Riper M. Ethical, legal, and social implications. In M.S. Runge & W.C. Patterson (Eds.), Principles of molecular medicine. Pp. 61-68). Totowa, NJ: Humana Press Inc. 2006.

Book Chapter

Whitmarsh I, Davis AM, Skinner D, Bailey DB. A place for genetic uncertainty: Parents valuing an unknown in the meaning of disease. Social Science & Medicine, 65:1082-1093. 2007.

[PubMed]
Journal Article

Rothschild BB, Estroff SE, Churchill LR. The cultural calculus of consent. Clinical Obstetrics and Gynecology, 48(3), 574-94. 2005.

[PubMed]
Journal Article

Bailey D, Armstrong D, Kemper A, Skinner D, Warren S. Supporting family adaptation to pre-symptomatic and "untreatable" conditions in an era of expanded newborn screening. Journal of Pediatric Psychology. [PubMed]

[PubMed]
Journal Article

BARATA, Llilda - Genetic Testing Immigration and Family Reunification: Impact on Hispanic Families [F31 HG005201]

This project will address the ethical, legal and social implications of the use of genetic testing as part of US immigration procedures for family reunification. Last year, approximately two-thirds of immigrants who came to the US as legal permanent residents were family sponsored under the family reunification provision. Under this provision a sponsor, who must be a US citizen or permanent resident, petitions to the US Citizenship and Immigration Services (USCIS) to bring his or her family members (spouse, children, parents or siblings) to the U.S. As part of the application process, the sponsor is required to show proof of alleged family relationships. This is typically done through documentation (e.g. birth certificates). But when documents are lacking or insufficient, or fraud is suspected, US immigration officials may suggest DNA testing (parentage or sibling testing) as a way to verify family relationships. In the past several years, DNA testing has become more frequent in immigration procedures, but the impact such testing may have on immigrants, their families or their communities, is not known. The objective of this study is to explore the positive and negative effects DNA testing may have on Mexican families, the largest immigrant group (14 percent) entering the US in the past year, particularly how test results might impact family relationships, social adaptability, and psychological well-being. The specific aims of the study are to use interviews with Mexican families to (1) Identify how Mexican immigrant families define and understand their familial ties to one another; and (2) Examine Mexican immigrant families' perceptions about the potential effects (positive and negative) of using genetic testing to prove alleged family relationships as part of the family reunification process in immigration. Endings from this research will be used to (3) Develop educational materials including (a) an informational brochure for immigrants planning to sponsor a family member under family re- unification provisions and (b) an ethical "points-to-consider" document to inform policy-makers, advocates and immigrant communities about findings of the study and their implications for the use of DNA testing in family re-unification Relevance to public health: Family reunification policies are based on the understanding that the reunion of immigrant family members with their close relatives supports their psychological well-being and in so doing promotes the health and welfare of the United States. This study will assess the implications of new genetic technology for its potential positive and negative effects on this important immigration policy. PUBLIC HEALTH RELEVANCE: My ultimate career goal is to become an academic researcher focusing on the ethical, legal and social implications of genetic technologies in society. My particular research goal in this proposal, supported by my experiences as an immigrant, is to explore the intersection of law and policy with genetic science in the development of immigration policy. The proposed research will consider the use of genetic testing immigration procedures for family re-unification, and will explore the potential impact of genetic testing in the context of immigrant perspectives on how families are defined and family ties constructed. This project will enable me to develop research and analytical skills in social science and law. Research and writing done through this training grant will be part of my doctoral dissertation, which will more broadly consider how the use of genetic testing influences the health and social structure of immigrant families and communities. In addition to developing specific research skills and producing a body of knowledge about Mexican immigrant perspectives on the use of genetic testing in family re-unification, this project will help to prepare me for a career as an independent investigator addressing ethical and policy questions relating to genetic science,' After completion of my PhD, I anticipate pursuing a post-doctoral fellowship in a setting where I can continue policy-relevant research related to genomics and the needs and concerns of immigrant and other minority communities, and subsequently seeking a faculty position where I can continue and further develop this work.

Barata LP, Starks H, Kelley M, Kuszler P, Burke W. What DNA Can and Cannot Say: Perspectives of Immigrant Families about the Use of Genetic Testing in Immigration. Stanford law & policy review. 2015;26:597-638.

Journal Article

BASSETT, Susan - Perceptions of Risk and Genetic Testing for AD [R01 HG001655]

The investigators plan to develop an information base on how the public, particularly those at increased risk, comprehend the current information regarding inheritance of Alzheimer's Disease (AD) risk, understand the role of competing risk factors, and view such testing. In addition physician understanding and interest in genetic testing for AD will be studied. Specific aims also include comparison of respondent and physician expectations of the testing process. The investigators rely on survey methodology using previously tested lines of questioning. Participants will include adult offspring (n=700) of previously studied AD patients and physicians (N=335) who treat these patients. The proposed study focuses on knowledge of AD genetic risk and attitudes toward presymptomatic genetic testing where false negatives and false positives are a prominent feature. The investigators are concerned with personal characteristics associated with interest in testing, with emphasis placed on tolerance for test uncertainty (TTU) as a strong predictor of test acceptance. Focus groups of high risk offspring and physicians will be conducted to explore the educational needs of these populations.

Chase GA, Geller G, Havstad SL, Holtzman NA, Bassett SS . Physicians' propensity to offer genetic testing for Alzheimer's disease: Results from a survey. Genet Med, 4 (4):297-303. 2002. [PubMed] Journal Article

BEHETS, Freida M. - Strengthening Bioethics Capacity and Justice in Health [R25 TW007098]

This program will serve its mission to promote responsible research in DRC and in Francophone Africa by consolidating the Center Interdisciplinaire de Bioethique pour l'Afrique Francophone (CIBAF) at the Kinshasa School of Public Health (KSPH) and by leveraging CIBAF's resources to enhance ethics capacity locally, regionally and internationally. University of North Carolina (UNC), Centre Interdisciplinaire Droit Ethique et Science de la Sante (CIDES, Belgium) and KSPH will strengthen the foundation of CIBAF's ongoing research, educational, consultation and network-building activities by broadening its current repertoire of research ethics, clinical ethics and public health ethics curricula; by offering and improving the newly established MPH at KSPH with concentration in bioethics; creating required research ethics modules for all KSPH students conducting research; strengthening skills of CIBAF members and affiliates in grant and manuscript writing, research design methodology and English. To expand ethics capacity regionally, workshops will be held Lubumbashi and Kisangani on clinical and research ethics; public health ethics; ethics committee capacity building; responsible conduct of research and research integrity; rights of research participants. Scholarships for 3- month program at UNC or CIDES will be offered annually to the most promising MPH student. Fogarty scholars in Madagascar will conduct a structured series of research ethics/bioethics capacity-building activities in collaboration with te University of Antananarivo and a network of nationally prominent research institutions. Workshops will be held at University of Burundi to support the creation of an ethics working group and to build capacity for local and national ethics committees. PUBLIC HEALTH RELEVANCE: With its high disease burden, Francophone Africa is increasingly a venue for biomedical and public health research involving human participants, but local capacity in ethical conduct and regulation of research is underdeveloped. This program will contribute to public health by enhancing responsible conduct of research and helping to maintain trust between research institutions, researchers and communities. Our program will also raise local awareness of the ethical issues commonly confronted by public health practitioners, and strengthen their skills to help resolve and manage them.

Rennie S, Mupenda B. . Ethics of mandatory premarital HIV testing in Africa: the case of Goma, Democratic Republic of Congo.. Dev World Bioeth., 2008. [PubMed] (Dev World Bioeth. 2008 Aug;8(2):126-37.) Journal Article
Rennie S, Mupenda B. . Living apart together: reflections on bioethics, global inequality and social justice.. Philos Ethics Humanit Med., 2008. [PubMed] (Philos Ethics Humanit Med. 2008 Dec 7;3:25. doi: 10.1186/1747-5341-3-25.) Journal Article
Mupenda B, Duvall S, Maman S, Pettifor A, Holub C, Taylor E, Rennie S, Kashosi M, Lema M, Behets F. . Terms used for people living with HIV in the Democratic Republic of the Congo. Qual Health Res., 2014. [PubMed] (Qual Health Res. 2014 Feb;24(2):209-16. doi: 10.1177/1049732313519869. Epub 2014 Jan 24.) Journal Article
Munday F . Bioethics and teaching: relations and contributions?. J Int Bioethique, 2013. [PubMed] (J Int Bioethique. 2013 Jun-Sep;24(2-3):11-3, 15-6.) Journal Article

Rennie S. Ethical use of antiretroviral resources for HIV prevention in resource poor settings. Dev World Bioeth. 2013 Aug;13(2):79-86

[PubMed]
Journal Article
Tshikala T, Mupenda B, Dimany P, Malonga A, Ilunga V, Rennie S. . Engaging with research ethics in central Francophone Africa: reflections on a workshop about ancillary care.. Philos Ethics Humanit Med, 2012. [PubMed] (Philos Ethics Humanit Med. 2012 Aug 6;7:10.) Journal Article
Rennie S, Mupenda B . The Ethics of Globalizing Bioethics.. Ethics Biol Eng Med., 2011. [PubMed] (Ethics Biol Eng Med. 2011;2(2):147-156.) Journal Article
Rennie S. . Viewing research participation as a moral obligation: in whose interests?. Hastings Cent Rep., 2011. [PubMed] (Hastings Cent Rep. 2011 Mar-Apr;41(2):40-7.) Journal Article
Rennie S, Turner AN, Mupenda B, Behets F. . Conducting unlinked anonymous HIV surveillance in developing countries: ethical, epidemiological, and public health concerns.. PLoS Med., 2009. [PubMed] (PLoS Med. 2009 Jan 20;6(1):e4. doi: 10.1371/journal.pmed.1000004.) Journal Article

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Last updated: January 24, 2019