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2.  Disclosure of Incidental Findings From Next-Generation Sequencing in Pediatric Genomic Research 
Pediatrics  2013;131(3):564-571.
Next-generation sequencing technologies will likely be used with increasing frequency in pediatric research. One consequence will be the increased identification of individual genomic research findings that are incidental to the aims of the research. Although researchers and ethicists have raised theoretical concerns about incidental findings in the context of genetic research, next-generation sequencing will make this once largely hypothetical concern an increasing reality. Most commentators have begun to accept the notion that there is some duty to disclose individual genetic research results to research subjects; however, the scope of that duty remains unclear. These issues are especially complicated in the pediatric setting, where subjects cannot currently but typically will eventually be able to make their own medical decisions at the age of adulthood. This article discusses the management of incidental findings in the context of pediatric genomic research. We provide an overview of the current literature and propose a framework to manage incidental findings in this unique context, based on what we believe is a limited responsibility to disclose. We hope this will be a useful source of guidance for investigators, institutional review boards, and bioethicists that anticipates the complicated ethical issues raised by advances in genomic technology.
PMCID: PMC3581837  PMID: 23400601
pediatrics; ethics; incidental findings; whole genome sequencing; whole exome sequencing; return of results
3.  Specimen Collection for Induced Pluripotent Stem Cell Research: Harmonizing the Approach to Informed Consent 
Prospective donation of tissue specimens for induced pluripotent stem cell (iPSC) research requires an approach to informed consent that is constructed for this context. Approaches to informed consent have been variable in ways that threaten the simultaneous goals of protecting donors and safeguarding future research and translation, and investigators are seeking guidance. This analysis addresses this need by providing concrete recommendations for informed consent that balance the goals of iPSC and regenerative medicine researchers with the interests of individual research participants.
Induced pluripotent stem cells (iPSCs) have elicited excitement in both the scientific and ethics communities for their potential to advance basic and translational research. They have been hailed as an alternative to derivation from embryos that provides a virtually unlimited source of pluripotent stem cells for research and therapeutic applications. However, research with iPSCs is ethically complex, uniquely encompassing the concerns associated with genomics, immortalized cell lines, transplantation, human reproduction, and biobanking. Prospective donation of tissue specimens for iPSC research thus requires an approach to informed consent that is constructed for this context. Even in the nascent stages of this field, approaches to informed consent have been variable in ways that threaten the simultaneous goals of protecting donors and safeguarding future research and translation, and investigators are seeking guidance. We address this need by providing concrete recommendations for informed consent that balance the perspectives of a variety of stakeholders. Our work combines analysis of consent form language collected from investigators worldwide with a conceptual balancing of normative ethical concerns, policy precedents, and scientific realities. Our framework asks people to consent prospectively to a broad umbrella of foreseeable research, including future therapeutic applications, with recontact possible in limited circumstances. We argue that the long-term goals of regenerative medicine, interest in sharing iPSC lines, and uncertain landscape of future research all would be served by a framework of ongoing communication with donors. Our approach balances the goals of iPSC and regenerative medicine researchers with the interests of individual research participants.
PMCID: PMC3659701  PMID: 23197820
Clinical translation; Ethics; iPS; Induced pluripotent stem cells
4.  The unintended implications of blurring the line between research and clinical care in a genomic age 
Personalized medicine  2014;11(3):285-295.
While the development of next-generation sequencing technology has had a paradigm-changing impact on biomedical research, there is likely to be a gap between discovery of therapeutic benefits in research and actual adoption of the new technology into clinical practice. This gap can create pressure on the research enterprise to provide individualized care more typical of the clinic setting because it is uniquely accessible in research. This blurring of the line between research and clinical care is understandable, and perhaps even inevitable. But even if the gap is only transitory, such a blurring can have lasting implications, both by expanding obligations imposed on researchers, but also by challenging long-held ethical views. We explore this idea, focusing on how the dissolving distinction between research and clinical care has influenced the vigorous debate around how researchers should manage genetic findings (sometimes separated into primary and incidental or secondary findings) resulting from research.
PMCID: PMC4262832  PMID: 25506378
ancillary care; incidental findings; legal liability; research ethics; secondary findings; whole-genome sequencing
5.  The DISCUSS Project: Induced Pluripotent Stem Cell Lines From Previously Collected Research Biospecimens and Informed Consent: Points to Consider 
Stem Cells Translational Medicine  2013;2(10):727-730.
This article presents a draft of Points to Consider when using human somatic cells obtained from research donors to derive and subsequently distribute induced pluripotent stem cells (iPSCs), with the goal of initiating a deliberative process to develop consensus for such use.
Human somatic cell reprogramming is a leading technology for accelerating disease modeling and drug discovery. Research organizations are sponsoring initiatives to create libraries of induced pluripotent stem cell (iPSC) lines for broad distribution and application. Donor informed consent plays a critical role in supporting the ethical conduct of iPSC research. To date, our organizations have focused on informed consent considerations for somatic cell collection intended specifically for iPSC derivation and distribution. This article considers how somatic cells obtained under general (biomedical) research protocols can be used for iPSC derivation. We present draft Points to Consider regarding the use of human somatic cells for iPSC research. Our goal is to initiate a process designed to develop consensus for the use of previously collected specimens for iPSC research. We anticipate publishing final considerations in early 2014.
PMCID: PMC3785257  PMID: 23990574
7.  Prenatal Whole Genome Sequencing 
The Hastings Center report  2012;42(4):28-40.
With whole genome sequencing set to become the preferred method of prenatal screening, we need to pay more attention to the massive amount of information it will deliver to parents—and the fact that we don't yet understand what most of it means.
PMCID: PMC4113095  PMID: 22777977
8.  Genomic Inheritances: Disclosing Individual Research Results From Whole-Exome Sequencing to Deceased Participants’ Relatives 
Whole-genome analysis and whole-exome analysis generate many more clinically actionable findings than traditional targeted genetic analysis. These findings may be relevant to research participants themselves as well as for members of their families. Though researchers performing genomic analyses are likely to find medically significant genetic variations for nearly every research participant, what they will find for any given participant is unpredictable. The ubiquity and diversity of these findings complicate questions about disclosing individual genetic test results. We outline an approach for disclosing a select range of genetic results to the relatives of research participants who have died, developed in response to relatives’ requests during a pilot study of large-scale medical genetic sequencing. We also argue that studies that disclose individual research results to participants should, at a minimum, passively disclose individual results to deceased participants’ relatives.
PMCID: PMC4104597  PMID: 22974017
genomics; medical genetics; research; genetic; personal genetic information; bioethical issues; ethics; research
10.  Ambivalence toward undergoing invasive prenatal testing: an exploration of its origins 
Prenatal diagnosis  2010;30(1):77-82.
This study explores ambivalence toward undergoing amniocentesis among pregnant women with overall positive attitudes. Its novelty lies in the characterization of the type and origins of the ambivalence.
Thirty-six women between 35 and 44 years of age were recruited from a U.S. prenatal testing center to participate in structured telephone interviews.
Thirty women chose to undergo testing. Attitudes toward undergoing amniocentesis were generally positive, although all participants simultaneously described feeling ambivalent. The women desired the information that amniocentesis could provide yet did not want to place their fetus at risk. Participants cited religious, moral, ethical, and intellectual values important in shaping their attitudes toward undergoing amniocentesis. Important referents such as partners, other pregnant women, family members, and physicians influenced their decisions.
Tensions were evident among the intellectual, moral, and spiritual values that contribute to ambivalence toward undergoing amniocentesis. Illuminating and discussing such tensions during the genetic counseling sessions prior to testing may resolve some of this ambivalence and thereby increase the quality of decisions women make.
PMCID: PMC2880848  PMID: 19924734
Informed Choice; Attitudes; Subjective Norms; Ambivalence; Amniocentesis
11.  Patients’ attitudes about the use of placebo treatments: telephone survey 
Objective To examine the attitudes of US patients about the use of placebo treatments in medical care.
Design One time telephone surveys.
Setting Northern California.
Participants 853 members of Kaiser Permanente Northern California, aged 18-75, who had been seen by a primary care provider for a chronic health problem at least once in the prior six months.
Results The response rate was 53.4% (853/1598) of all members who were eligible to participate, and 73.2% (853/1165) of all who could be reached by telephone. Most respondents (50-84%) judged it acceptable for doctors to recommend placebo treatments under conditions that varied according to doctors’ level of certainty about the benefits and safety of the treatment, the purpose of the treatment, and the transparency with which the treatment was described to patients. Only 21.9% of respondents judged that it was never acceptable for doctors to recommend placebo treatments. Respondents valued honesty by physicians regarding the use of placebos and believed that non-transparent use could undermine the relationship between patients and physicians.
Conclusions Most patients in this survey seemed favorable to the idea of placebo treatments and valued honesty and transparency in this context, suggesting that physicians should consider engaging with patients to discuss their values and attitudes about the appropriateness of using treatments aimed at promoting placebo responses in the context of clinical decision making.
PMCID: PMC3698941  PMID: 23819963

Results 1-11 (11)