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Purpose: The debate surrounding the return of results from high-throughput genomic interrogation encompasses many important issues including ethics, law, economics, and social policy. As well, the debate is also informed by the molecular, genetic, and clinical foundations of the emerging field of clinical genomics, which is based on this new technology. This article outlines the main biomedical considerations of sequencing technologies and demonstrates some of the early clinical experiences with the technology to enable the debate to stay focused on real-world practicalities. Methods: These experiences are based on early data from the ClinSeq project, which is a project to pilot the use of massively parallel sequencing in a clinical research context with a major aim to develop modes of returning results to individual subjects. Results: The study has enrolled >900 subjects and generated exome sequence data on 572 subjects. These data are beginning to be interpreted and returned to the subjects, which provides examples of the potential usefulness and pitfalls of clinical genomics. Conclusion: There are numerous genetic results that can be readily derived from a genome including rare, high-penetrance traits, and carrier states. However, much work needs to be done to develop the tools and resources for genomic interpretation. The main lesson learned is that a genome sequence may be better considered as a health-care resource, rather than a test, one that can be interpreted and used over the lifetime of the patient. Genet Med 2012:14(4):393–398

Over a decade ago, the fMRI Data Center (fMRIDC) pioneered open-access data sharing in the task-based functional neuroimaging community. Well ahead of its time, the fMRIDC effort encountered logistical, sociocultural and funding barriers that impeded the field-wise instantiation of open-access data sharing. In 2009, ambitions for open-access data sharing were revived in the resting state functional MRI community in the form of two grassroots initiatives: the 1000 Functional Connectomes Project (FCP) and its successor, the International Neuroimaging Datasharing Initiative (INDI). Beyond providing open access to thousands of clinical and non-clinical imaging datasets, the FCP and INDI have demonstrated the feasibility of large-scale data aggregation for hypothesis generation and testing. Yet, the success of the FCP and INDI should not be confused with widespread embracement of open-access data sharing. Reminiscent of the challenges faced by fMRIDC, key controversies persist and include participant privacy, the role of informatics, and the logistical and cultural challenges of establishing an open science ethos. We discuss the FCP and INDI in the context of these challenges, highlighting the promise of current initiatives and suggesting solutions for possible pitfalls. ► The FCP and INDI reinvigorated open-access data sharing in the neuroimaging community. ► Open-access data sharing is far from universally accepted in the fMRI community. ► Researchers must be incentivized to use informatics platforms. ► Researchers need to obtain explicit participant consent for future data sharing. ► Funding agencies, journals and research institutions need to prioritize open science.

Moral sensitivity is one criterion for competent professional ethics. This sensitivity can be reinforced by specific educational practices. The purpose of this study was to investigate the impact of professional ethics-based education on the ethical sensitivity of health information technology students. This quasi-experimental pre-post study was conducted in 2022 with 49 students. A researcher-created questionnaire based on Lutzen was used for data collection. Data were analyzed using descriptive statistics and paired t-tests. Students' moral sensitivity score was 7.4 ± 0.7 before and 7.6 ± 0.8 after, a significant increase in post scores (P=0.031). The moral sensitivity score of students who had not previously received professional ethics training was statistically significantly increased by case-based learning. The professional ethics-based teaching method was effective in increasing the moral sensitivity of health information technology students, so it is recommended to use this method of teaching medical ethics courses.

Whether or not to give research results back to individuals whose specimens are used for biomedical research is a subject of considerable controversy. Much of the debate has been focused around the ethical and legal concerns with some consideration of broader social issues such as whether or not people will be affected by such information for employment or health care. Much less attention has been paid to biobanks that collect the specimens used to generate the research findings and the issues and operational requirements for implementing return of individual research results. In this article, we give the biobanks’ perspective and highlight that given the diversity among the types of biobanks, it may be difficult to design and implement a blanket policy in this complex area. We discuss the variability in the types of biobanks and some important issues that should be considered in determining whether or not research results should be provided to individuals whose specimens are used in biomedical research. We also discuss challenges that should be considered in implementing any approaches to the return of research results. Genet Med 2012:14(4):478–483

Purpose: Return of individual genetic results to research participants, including participants in archives and biorepositories, is receiving increased attention. However, few groups have deliberated on specific results or weighed deliberations against relevant local contextual factors. Methods: The Electronic Medical Records and Genomics (eMERGE) Network, which includes five biorepositories conducting genome-wide association studies, convened a return of results oversight committee to identify potentially returnable results. Network-wide deliberations were then brought to local constituencies for final decision making. Results: Defining results that should be considered for return required input from clinicians with relevant expertise and much deliberation. The return of results oversight committee identified two sex chromosomal anomalies, Klinefelter syndrome and Turner syndrome, as well as homozygosity for factor V Leiden, as findings that could warrant reporting. Views about returning findings of HFE gene mutations associated with hemochromatosis were mixed due to low penetrance. Review of electronic medical records suggested that most participants with detected abnormalities were unaware of these findings. Local considerations relevant to return varied and, to date, four sites have elected not to return findings (return was not possible at one site). Conclusion: The eMERGE experience reveals the complexity of return of results decision making and provides a potential deliberative model for adoption in other collaborative contexts. Genet Med 2012:14(4):424–431

National and international public–private partnerships, consortia, and government initiatives are underway to collect and share genomic, personal, and healthcare data on a massive scale. Ideally, these efforts will contribute to the creation of a medical information commons (MIC), a comprehensive data resource that is widely available for both research and clinical uses. Stakeholder participation is essential in clarifying goals, deepening understanding of areas of complexity, and addressing long-standing policy concerns such as privacy and security and data ownership. This article describes eight core principles proposed by a diverse group of expert stakeholders to guide the formation of a successful, sustainable MIC. These principles promote formation of an ethically sound, inclusive, participant-centric MIC and provide a framework for advancing the policy response to data-sharing opportunities and challenges.

Managers of genomic biobanks constantly face ethical and legal challenges ranging from issues associated with the informed consent process to procedural concerns related to access by researchers. Yet, with the availability of next-generation sequencing technologies, one topic is emerging as the focus of ongoing debate: the return of individual research results and incidental findings to participants. This article examines this topic from an international perspective, where policies and guidelines discussing the matter in the context of genomic biobanks and genomic research are analyzed and commented. This approach aims to highlight the shortcomings of these international norms, mainly the danger arising from both the therapeutic misconception and the conflation of research results with incidental findings. This article suggests some elements to consider in order to complement available guidance at the international level. Genet Med 2012:14(4):484–489

Although issues involved in offering individual results to participants in genomic research have received considerable attention, communication of aggregate results has been the subject of relatively little ethical analysis. Offering participants aggregate results is typically assumed to be a good thing, and studies have found that a significant majority of biobank research participants, when asked about their interest in aggregate results, say that access to such information would be important. Even so, return of aggregate results remains a relatively uncommon practice. In this article, we explore the opportunities involved in communicating aggregate results to participants in genomic research, including affirming the value of research participation, informing participants about research being conducted based on broad consent for future unspecified research, educating participants and the public about the research process, and building trust in the research enterprise. We also explore some of the challenges, including the complex intersection between individual and aggregate results, as well as practical hurdles. We conclude by offering our preliminary recommendations concerning the provision of aggregate results and an agenda for much-needed future research. Genet Med 2012:14(4):490–496

Existing attempts to explain why secondary researchers might have any obligation to return findings to the contributors of genetic samples falter because of the lack of any direct interaction between the secondary researchers and the contributors. The partial-entrustment account of these obligations defended here circumvents this problem by explaining how a chain of special responsibilities can be forged even in the absence of any direct interaction. Genet Med 2012:14(4):467–472