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Contents - JLME - 2015 Volume 43: 3
Full Journal
  1. Full Journal Download
Table of Contents
  1. Table of Contents
Introduction
  1. Introduction: Return of Research Results: What About the Family?
Symposium Articles
  1. Returning a Research Participant's Genomic Results to Relatives: Analysis and Recommendations
  2. Preferences Regarding Return of Genomic Results to Relatives of Research Participants, Including after Participant Death: Empirical Results from a Cancer Biobank
  3. Patients' Choices for Return of Exome Sequencing Results to Relatives in the Event of Their Death
  4. Mapping the Ethics of Translational Genomics: Situating Return of Results and Navigating the Research-Clinical Divide
  5. Return of Genetic Research Results to Participants and Families: IRB Perspectives and Roles
  6. Canadian Research Ethics Board Leadership Attitudes to the Return of Genetic Research Results to Individuals and Their Families
  7. Returning a Research Participant's Genomic Results to Relatives: Perspectives from Managers of Two Distinct Research Biobanks
  8. Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject
  9. How Much Control Do Children and Adolescents Have over Genomic Testing, Parental Access to Their Results, and Parental Communication of Those Results to Others?
  10. A Family-Centered Model for Sharing Genetic Risk
  11. Disclosing Secondary Findings from Pediatric Sequencing to Families: Considering the "Benefit to Families"
  12. Return of Results from Research Using Newborn Screening Dried Blood Samples
  13. Considerations for Returning Research Results to Culturally Diverse Participants and Families of Decedents
  14. International Policies on Sharing Genomic Research Results with Relatives: Approaches to Balancing Privacy with Access
Independent Articles
  1. Certificates of Confidentiality: Protecting Human Subject Research Data in Law and Practice
  2. How Agencies Market Egg Donation on the Internet: A Qualitative Study
  3. Considering Actionability at the Participant's Research Setting Level for Anticipatable Incidental Findings from Clinical Research
  4. Funding the Costs of Disease Outbreaks Caused by Non-Vaccination
  5. The Pediatrician's Dilemma: Refusing the Refusers of Infant Vaccines
  6. Physician Dismissal of Families Who Refuse Vaccination: An Ethical Assessment
Columns
  1. CURRENTS IN CONTEMPORARY BIOETHICS Ethical Integrity in Health Care Organizations
Calendar
  1. Calendar
Full Journal
Full Journal Download
ASLME - [PDF]


Table of Contents
Table of Contents
Introductions
Introduction: Return of Research Results: What About the Family?
Susan M. Wolf - [PDF]

When work began on return of results in genomic research about a decade ago, few thought about the family. The question of whether researchers owed participants a duty to offer back individual results and incidental findings of potential health importance was vexing enough. At that point researchers customarily refrained from offering results to participants. If consent forms said anything at all about return of results, it was often to clarify that no results would be offered back.
Symposium Articles
Returning a Research Participant's Genomic Results to Relatives: Analysis and Recommendations
Susan M. Wolf, Rebecca Branum, Barbara A. Koenig, Gloria M. Petersen, Susan A. Berry, Laura M. Beskow, Mary B. Daly, Conrad V. Fernandez, Robert C. Green, Bonnie S. LeRoy, Noralane M. Lindor, P. Pearl O'Rourke, Carmen Radecki Breitkopf, Mark A. Rothstein, - [PDF]

The debate about how to manage individual research results and incidental findings in genetic and genomic research has focused primarily on what information, if any, to offer back to research participants. However, increasing controversy surrounds the question of whether researchers have any responsibility to offer a participant's results (defined here to include both individual research results and incidental findings) to the participant's relatives, including after the participant's death. This question arises in multiple contexts, including when researchers discover a result with potentially important health implications for genetic relatives, when a participant's relatives ask a researcher whether any research results about the participant have implications for their own health or reproductive planning, when a participant's relative asks whether any of the participant's results have implications for a child's health, and when the participant is deceased and the participant's relatives seek information about the participant's genetic results in order to address their own health or reproductive concerns.
Preferences Regarding Return of Genomic Results to Relatives of Research Participants, Including after Participant Death: Empirical Results from a Cancer Biobank
Carmen Radecki Breitkopf, Gloria M. Petersen, Susan M. Wolf, Kari G. Chaffee, Marguerite E. Robinson, Deborah R. Gordon, Noralane M. Lindor, and Barbara A. Koenig - [PDF]

Biobank data and samples frequently endure beyond the life of the individual who provided the sample; this is particularly true for biorepositories that archive data and samples from cancer patients. Those data and samples may be used for research, including after the death of the individual. When the research produces genetic research results (a term used here to include incidental findings and individual research results) that have potential health or reproductive importance for the individual who provided the sample, the results may also have importance for blood relatives. This raises the question of whether the research results should be shared with relatives, at their request or at the initiative of the researchers. The issues are complex even when the research participant is alive, but are particularly challenging after the death of the individual whose data and sample are archived, as the individual may not have been asked their preferences about sharing with family, including after death. Even if the individual's preferences on sharing have been elicited, investigators and biobank directors may be concerned about withholding genetic research results from relatives that are of potential health significance.
Patients' Choices for Return of Exome Sequencing Results to Relatives in the Event of Their Death
Laura M. Amendola, Martha Horike-Pyne, Susan B. Trinidad, Stephanie M. Fullerton, Barbara J. Evans, Wylie Burke, and Gail P. Jarvik - [PDF]

The incorporation of exome and genome sequencing into research and clinical practice raises the possibility of providing a range of genomic results to relatives in the event of the death of the research participant or patient. Genomic data can be of direct relevance to the medical care of relatives. However, some test subjects (e.g., cancer patients) are at higher risk of dying before they receive their test results and thus may not be able to share useful information with family members. We created an Institutional Review Board (IRB)-approved document with talking points on the possibility of disclosure of results to family members after an individual's death to discuss during the informed consent process for genomic testing with participants in a study of exome sequencing in the context of familial colorectal cancer/polyposis.
Mapping the Ethics of Translational Genomics: Situating Return of Results and Navigating the Research-Clinical Divide
Susan M. Wolf, Wylie Burke, and Barbara A. Koenig - [PDF]

Research on the use of genome and exome sequencing for diagnosis, identification of potential therapies, precision prescribing of pharmaceuticals, and identification of disease risk is progressing rapidly. Research projects now commonly yield findings of potential health importance for the individuals sequenced as well as their relatives, raising difficult questions about investigator responsibilities to offer those research findings for potential clinical work-up. As sequencing is moving into clinical application, the ethical questions are further multiplying. The ethical quandaries will only proliferate as use of sequencing in screening to achieve public health goals is debated more widely.
Return of Genetic Research Results to Participants and Families: IRB Perspectives and Roles
Laura M. Beskow and P. Pearl O'Rourke - [PDF]

Whether or not to offer individual genetic results to research participants has been the subject of considerable debate, yet consensus regarding what, when, and how to return remains elusive. Despite this lack of clarity, the discussion has moved to the offer of research results to family members of participants, including when the participant is deceased. Given the familial implications of genetic information, this extension is perhaps logical. But it raises concerns throughout the research process, including, for example, questions about disclosures and choices on consent forms, procedures for identifying and contacting family members, and how any such obligations might apply to secondary users of biospecimens and data.
Canadian Research Ethics Board Leadership Attitudes to the Return of Genetic Research Results to Individuals and Their Families
Conrad V. Fernandez, P. Pearl O'Rourke, and Laura M. Beskow - [PDF]

The return of individual genetic results to research participants has been widely discussed in the context of an explosion of genetic research utilizing an ever more rapid and inexpensive array of sequencing and bioinformatics platforms. To date, a number of consensus statements guide researchers as to the breadth and limits of their obligations for offering genomic research results to participants. Typically these recommendations are rooted in the result's clinical validity, actionability, and potential health consequences, and are predicated on the informed consent of the participant. An emerging discussion is the challenging question of the degree to which researchers may additionally have responsibility for offering results to family members of the research participant. Some have argued that ethical obligations to relatives intensify as the significance and actionability of the result increase, while others claim that obligations to next of kin should follow the clinical model where the decision to share genetic results falls to the patient. A detailed reflection on the many ethical issues that arise in considering whether such a responsibility exists, and if so how to honor it, is presented in this issue of JLME by Wolf et al.
Returning a Research Participant's Genomic Results to Relatives: Perspectives from Managers of Two Distinct Research Biobanks
Gloria M. Petersen and Brian Van Ness - [PDF]

Given the nature of scientific inquiry, biomedical and genomic researchers have forged innumerable ways to advance our understanding of human disease. In many cases, research requires the involvement of human subjects, and in a subset of these studies, the researcher may collect data and biospecimens from many participants, and even serially collect additional materials over time and across a number of geographically dispersed centers. The organized data and biospecimens are collectively known as research biobanks. Researchers have an obligation to disseminate findings from their research through publications and presentations to other professionals, and when possible, to the public. Sharing genomic data is increasingly being mandated; access to data can be obtained through collaborative or state-funded entities. For example, the database of Genotypes and Phenotypes (dbGAP) and the International Cancer Genome Consortium will grant approved research applicants access to de-identified individual level genomic data with accompanying demographic/clinical information.
Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject
Sarah Scollon, Katie Bergstrom, Laurence B. McCullough, Amy L. McGuire, Stephanie Gutierrez, Robin Kerstein, D. Williams Parsons, and Sharon E. Plon - [PDF]

In the pediatric clinical setting, the parent/guardian will almost always be the authorized representative and designated recipient of clinical and research results, making the issue of to whom results should be returned in the pediatric setting less complex than in adult settings. It is also clear that, in genomic research related to pediatric diseases such as cancer, results may be of considerable clinical, ethical, and personal significance for parents in a number of ways, including a genomic explanation of the origin of their child's cancer, implications for the genetic testing and medical care of other siblings and of the parents themselves, and reproductive planning with regard to the recurrence risk for future children to have an increased risk of cancer. However, what remains unclear is which results should be disclosed, and under what circumstances, to parents of deceased children.
How Much Control Do Children and Adolescents Have over Genomic Testing, Parental Access to Their Results, and Parental Communication of Those Results to Others?
Ellen Wright Clayton - [PDF]

Both researchers and clinicians are increasingly offering genomic testing for children and adolescents, a practice which parents have generally endorsed in numerous studies. By contrast, much less effort has been devoted to understanding what minors think about genetic and genomic testing. While a small number of investigators have shown that minors with or at risk for cancer generally concur with their parents and favor testing, other studies reveal that minors are less willing to participate in genomics research. Regardless, genetic and genomic testing of minors raises of host of potential legal questions. Key issues are: (1) To what extent can minors obtain genomic tests without involvement of parents or guardians? (2) To what extent can minors refuse genomic testing? and (3) To what extent can minors obtain their own results, keep their parents from getting access to them, and limit what their parents do with their genomic test results? While a number of authors have written about legal issues in genetic testing of minors, remarkably little has been written about the legal protections of minors' choices about genomic analysis and return of results.
A Family-Centered Model for Sharing Genetic Risk
Mary B. Daly - [PDF]

The successes of the Human Genome Project and the continuing advances of DNA technology have ushered in a new era of genomic science. Investigators around the world are using genomic technologies to advance our fundamental understanding of biologic and physiologic mechanisms in humans and other species. The ability to sequence the entire human genome exponentially expands our ability to identify the contribution of genetic variation to disease risk and other phenotypic differences within the population. Information derived from this research has the potential to contribute to disease prevention, disease prediction, and personalized treatment. These scientific advances, however, raise several ethical, legal, and social challenges. Many of these challenges, including personal and societal benefits and risks, and privacy and confidentiality, are mirrored in the current professional and public debate about the perceived conflict between personal autonomy, privacy, and confidentiality, and the potential value of sharing genomic information within the family.
Disclosing Secondary Findings from Pediatric Sequencing to Families: Considering the "Benefit to Families"
Benjamin S. Wilfond, Conrad V. Fernandez, and Robert C. Green - [PDF]

Should children ever have genetic testing for adultonset conditions? For the last two decades, there have been general recommendations from professional organizations that discourage such testing. Until recently, such testing was only plausible in the context of a family history of a Mendelian condition that might prompt the parents (or an adolescent) to request testing for the adult-onset condition present within the family. In this context there has been a gradual shift in the direction of suggesting parents should have greater discretion to obtain such testing after careful consideration of risks and benefits by the family and the health care provider.
Return of Results from Research Using Newborn Screening Dried Blood Samples
Michelle Huckaby Lewis and Aaron J. Goldenberg - [PDF]

Whether research results should be returned to participants has been an ongoing debate in the research and bioethics communities for years. The debate has become more complicated as advances in technology permit the discovery through genomic sequencing of a growing number of findings that may or may not have clinical relevance for research participants. As part of the larger conversation regarding whether and under what circumstances research results should be returned to participants, research conducted using residual newborn screening dried blood samples (DBS) deserves special consideration due to the nature of newborn screening, the recent controversy regarding the retention and use of DBS, and the impact of this controversy on state newborn screening programs.
Considerations for Returning Research Results to Culturally Diverse Participants and Families of Decedents
Nanibaa' A. Garrison - [PDF]

As genomic medicine advances and immense amounts of data are generated that may potentially affect human health, there is increasing concern around which of these results matter to participants. There has been considerable debate on which research results to return to participants and when those results should be returned. To date, however, the debates around the return of genomic results have not focused on how those results should be returned, especially when the results come from minority and/or culturally diverse participants. This commentary explores cultural and ethical considerations, and shares insight from my own Navajo background, around returning genomic research results to participants and potentially to families of culturally diverse backgrounds, with a special focus on considerations when the research participant is deceased, and raises points for further discussion.
International Policies on Sharing Genomic Research Results with Relatives: Approaches to Balancing Privacy with Access
Rebecca Branum and Susan M. Wolf - [PDF]

Debate over return of results and incidental findings to participants in genetic and genomic research has exploded over the last decade. At this point, there is wide agreement that investigators have a responsibility to anticipate discovery of findings that may warrant return, to incorporate in protocols a plan for evaluating such findings, and to offer at least some of these results to participants consenting to such return. However, the issue of how to handle questions from a participant's genetic relatives about their own risk, or whether investigators should alert relatives to a genetic risk they may share, has garnered much less attention. Only recently has the genomic research community begun to debate these questions and offer recommendations.
Independent Articles
Certificates of Confidentiality: Protecting Human Subject Research Data in Law and Practice
Leslie E. Wolf, Mayank J. Patel, Brett A. Williams Tarver, Jeffrey L. Austin, Lauren A. Dame, and Laura M. Beskow - [PDF]

Answering important public health questions often requires collection of sensitive information about individuals. For example, our understanding of how HIV is transmitted and how to prevent it only came about with people's willingness to share information about their sexual and drug-using behaviors. Given the scientific need for sensitive, personal information, researchers have a corresponding ethical and legal obligation to maintain the confidentiality of data they collect and typically promise in consent forms to restrict access to it and not to publish identifying data.
How Agencies Market Egg Donation on the Internet: A Qualitative Study
Jason Keehn, Eve Howell, Mark V. Sauer, and Robert Klitzman - [PDF]

We systematically examined the content of the websites of 46 agencies that buy and sell human eggs to understand how they market themselves to both donors and recipients. We found that these websites use marketing techniques that obscure the realities of egg donation, presenting egg donation as a mutually beneficial and fulfilling experience. Sites emphasize egg donors' emotional fulfillment (71.4%) and address recipients' anxieties by stressing the ability to find the perfect "fit" or "match" (56.5%), suiting recipients' "preferences"/"desires" (19.6%), and even designing/customizing a child (15.2%). Agencies attempt to create a sense of connection between the recipients and donors by reporting donors' personal characteristics - e.g., interests/hobbies (63%), traits (34.8%), mood/ temperament (20%), and self-reported childhood behavior/ memories (15%). Sites present donors as caring/generous (54.3%) and smart/successful/beautiful. These data, the first to examine several key aspects of egg donation agency websites, reveal critical aspects of how these companies communicate to prospective donors and recipients, raising several ethical concerns. Websites frame information in ways that may bias consumers, making emotional appeals that may distract from appropriate risk/benefit assessments and obscure the ethical challenges of egg donation. These data highlight needs for improved practices, adherence to guidelines, and consideration of enhanced guidelines or policy.
Considering Actionability at the Participant's Research Setting Level for Anticipatable Incidental Findings from Clinical Research
Alberto (Betto) Ortiz-Osorno, Linda A. Ehler, and Judith Brooks - [PDF]

Determining what constitutes an anticipatable incidental finding (IF) from clinical research and defining whether, and when, this IF should be returned to the participant have been topics of discussion in the field of human subject protections for the last 10 years. It has been debated that implementing a comprehensive IF-approach that addresses both the responsibility of researchers to return IFs and the expectation of participants to receive them can be logistically challenging. IFs have been debated at different levels, such as the ethical reasoning for considering their disclosure or the need for planning for them during the development of the research study. Some authors have discussed the methods for re-contacting participants for disclosing IFs, as well as the relevance of considering the clinical importance of the IFs. Similarly, other authors have debated about when IFs should be disclosed to participants. However, no author has addressed how the "actionability" of the IFs should be considered, evaluated, or characterized at the participant's research setting level. This paper defines the concept of "Actionability at the Participant's Research Setting Level" (APRSL) for anticipatable IFs from clinical research, discusses some related ethical concepts to justify the APRSL concept, proposes a strategy to incorporate APRSL into the planning and management of IFs, and suggests a strategy for integrating APRSL at each local research setting.
Funding the Costs of Disease Outbreaks Caused by Non-Vaccination
Charlotte A. Moser, Dorit Reiss, and Robert L. Schwartz - [PDF]

While vaccination rates in the United States are high - generally over 90 percent - rates of exemptions have been going up, and preventable diseases coming back. Aside from their human cost and the financial cost of treatment imposed on those who become ill, outbreaks impose financial costs on an already burdened public health system, diverting resources from other areas. This article examines the financial costs of non-vaccination, showing how high they can be and what they include. It makes a case for requiring those who do not vaccinate to cover the costs of outbreak caused by their choice. Such recouping is justified because the choice not to vaccinate can easily be seen as negligent. But even if it is not, that choice involves imposing costs on others, and there are good reasons to require the actors to internalize those costs.
The Pediatrician's Dilemma: Refusing the Refusers of Infant Vaccines
Stan L. Block - [PDF]

Dealing with the continuously increasing rates of families wanting to either significantly delay or completely postpone their infant's vaccines has created an alarmingly untenable dilemma for the general pediatricians dealing with these families on a daily basis. Pediatricians must decide whether to continue to provide substandard care by foregoing many or most of the infant's highly recommended protective vaccines, or whether to dismiss from the practice the family who refuses vaccines. Much has been written about why they should retain these families, but this paper will discuss some reasonable rationales as to why nearly 40% of pediatricians choose dismissal of these families.
Physician Dismissal of Families Who Refuse Vaccination: An Ethical Assessment
Douglas S. Diekema - [PDF]

Thousands of U.S. parents choose to refuse or delay the administration of selected vaccines to their children each year, and some choose not to vaccinate their children at all. While most physicians continue to provide care to these families over time, using each visit as an opportunity to educate and encourage vaccination, an increasing number of physicians are choosing to dismiss these families from their practice unless they agree to vaccinate their children. This paper will examine this emerging trend along with the reasons given by those who advocate such an approach. I will argue that the strategy of refusing to allow families into a clinic unless they agree to vaccinate their children is misguided, and the arguments for doing so fail to stand up to close scrutiny. Such a strategy does not benefit the child or the health of the community, and may have a negative impact on both. Furthermore, some of the arguments in support of dismissal policies ignore the importance of professional obligation and appear to favor self-interest over the interest of the patient.
Columns
CURRENTS IN CONTEMPORARY BIOETHICS Ethical Integrity in Health Care Organizations
Jessica Mantel - [PDF]

The rise of managed care initiated a steady decline in solo and small group physician practices and the emergence of new delivery models built around large health care organizations (HCOs). Health care reform has only accelerated this trend as public and private payors shift to new payment methodologies that reward clinical and financial integration among providers. As a result, patients increasingly receive care from physicians and other health professionals organized into collaborative partnerships with one another and institutional providers, such as hospitals. As described below, this new organizational dynamic profoundly influences the clinical judgment of physicians. No longer can society simply depend on the professionalism of individual physicians to ensure ethical integrity in the health care setting. Rather, ethical integrity in the health care setting also requires a strong foundation of organizational ethics.
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