Despite growing concerns toward maintaining participants’ privacy, individual investigators collecting tissue and other biological specimens for genomic analysis are encouraged to obtain informed consent for broad data sharing. To assess the effect on research enrollment and data sharing decisions of three different consent types (traditional, binary, or tiered) with varying levels of control and choices regarding data sharing.
A single blind, randomized controlled trial was conducted with 323 eligible adult participants being recruited into one of six genome studies at Baylor College of Medicine in Houston, Texas between January 2008 and August 2009. Participants were randomly assigned to one of three experimental consent documents (traditional, n=110; binary, n=103; tiered, n=110). Debriefing in follow-up visits provided participants a detailed review of all consent types and the chance to change data sharing choices or decline genome study participation.
Before debriefing, 83.9% of participants chose public data release. After debriefing, 53.1% chose public data release, 33.1% chose restricted (controlled access database) release, and 13.7% opted out of data sharing. Only one participant declined genome study participation due to data sharing concerns.
Our findings indicate that most participants are willing to publicly release their genomic data, however, a significant portion prefer restricted release. These results suggest discordance between existing data sharing policies and participants’ judgments and desires.
data sharing; genome research; ethical issues; participant perspectives; consent
Continued advances in human microbiome research and technologies raise a number of ethical, legal, and social challenges. These challenges are associated not only with the conduct of the research, but also with broader implications, such as the production and distribution of commercial products promising maintenance or restoration of good physical health and disease prevention. In this article, we document several ethical, legal, and social challenges associated with the commercialization of human microbiome research, focusing particularly on how this research is mobilized within economic markets for new public health uses.
We conducted in-depth, semi-structured interviews (2009–2010) with 63 scientists, researchers, and National Institutes of Health project leaders (“investigators”) involved with human microbiome research. Interviews explored a range of ethical, legal, and social dimensions of human microbiome research, including investigators’ perspectives on commercialization. Using thematic content analysis, we identified and analyzed emergent themes and patterns.
Investigators discussed the commercialization of human microbiome research in terms of (1) commercialization, probiotics, and issues of safety, (2) public awareness of the benefits and risks of dietary supplements, and (3) regulation.
The prevailing theme of ethical, legal, social concern focused on the need to find a balance between the marketplace, scientific research, and the public’s health. The themes we identified are intended to serve as points for discussions about the relationship between scientific research and the manufacture and distribution of over-the-counter dietary supplements in the United States.
Commercialization; Human microbiome; Ethical legal and social implications (ELSI); Dietary supplements; Qualitative research
This manuscript describes the NIH Human Microbiome Project, including a brief review of human microbiome research, a history of the project, and a comprehensive overview of the consortium's recent collection of publications analyzing the human microbiome.
A report on the National Human Genome Research Institute's Ethical, Legal, and Social Implications Research Program 2011 Congress, 'Exploring the ELSI Universe', Chapel Hill, North Carolina, USA, 12-14 April 2011.
Empirical research; ethics; genomic research
Direct-to-consumer personal genome testing is now widely available to consumers. Proponents argue that knowledge is power but critics worry about consumer safety and potential harms resulting from misinterpretation of test information. In this article, we consider the health system implications of direct-to-consumer personal genome testing, focusing on issues of accountability, both corporate and professional.
Consumer safety; DNA test kit; Personal genome testing, direct-to-consumer
In January 2009 the National Heart, Lung, and Blood Institute (NHLBI) convened a 28-member multidisciplinary Working Group to update the recommendations of a 2004 NHLBI Working Group focused on Guidelines to the Return of Genetic Research Results. Changes in the genetic and societal landscape over the intervening five years raise multiple questions and challenges. The group noted the complex issues arising from the fact that the technologic and bioinformatic progress has made it possible to obtain considerable information on individuals which would not have been possible a decade ago. While unable to reach consensus on a number of issues, the Working Group produced five recommendations. The Working Group offers two recommendations addressing the criteria necessary to determine when genetic results should and may be returned to study participants, respectively. In addition, it suggests that a time limit be established to limit the duration of obligation of investigators to return genetic research results. The Group recommends the creation of a central body, or bodies, to provide guidance on when genetic research results are associated with sufficient risk and have established clinical utility to justify their return to study participants. The final Recommendation urges investigators to engage the broader community when dealing with identifiable communities to advise them on the return of aggregate and individual research results. Creation of an entity charged to provide guidance to IRBs, investigators, research institutions and research sponsors would provide rigorous review of available data, promote standardization of study policies regarding return of genetic research results, and enable investigators and study participants to clarify and share expectations for the handling of this increasingly valuable information with appropriate respect for the rights and needs of participants.
consent genetics; ethics; research genetics; risk rediction; single nucleotide polymorphism genetics
Should the results of whole genome sequencing research be disclosed to participants, in particular when the results have uncertain or indeterminate phenotypic consequences? This controversial question is considered in light of one author's (JL) experience as a geneticist who recently had his own genome sequenced.
No course in genetics can prepare the practicing physician to interpret whole-genome data. We argue that genetics is a microcosm of the changing dynamics of the practice of medicine. It illustrates the perfect storm of exponential increases in raw data with undetermined clinical relevance, ease of access to large amounts of data via the internet and shifting expectations of the doctor-patient relationship and the very mechanisms of health care delivery. Educational reform is needed across the continuum of medical education, from the student to the faculty training them, and requires a shift in focus from factual knowledge to data management and interpretation.
With recent advances in DNA sequencing technology, medicine is entering an era in which a personalized genomic approach to diagnosis and treatment of disease is now feasible. However, discovering the role of altered DNA sequences in various disease states will be a challenging task. The genomic approach offers great promise for diseases like pancreatic cancer in which the effect of current diagnostic and treatment modalities is disappointing. To facilitate the characterization of the genome of pancreatic cancer, high quality and well annotated tissue repositories are needed. This article summarizes basic principles guiding the creation of such a repository including sample processing and preservation techniques, sample size and composition, and collection of clinical data elements.
Pancreatic cancer; tissue bank; genomic analysis
Technological advances over the past several years have dramatically reduced the cost of whole-genome sequencing. At the same time, understanding of the functional significance of genetic variation has advanced considerably. The routine generation of whole-genome sequence data for individual patients will soon be sufficiently cost-effective for widespread clinical integration. Yet, the clinical utility of whole-genome data is currently limited by an inability to effectively process, store, interpret and update genomic data, while at the same time protecting patient privacy. Enter the electronic health record. We propose that without the integration of a dynamic uniform electronic health record, counseling patients on the basis of genome-wide data will be futile.
Over the last decade there has been vast interest in and focus on the implementation of personalized genomic medicine. Although there is general agreement that personalized genomic medicine involves utilizing genome technology to assess individual risk and ensure the delivery of the “right treatment, for the right patient, at the right time,” different categories of stakeholders focus on different aspects of personalized genomic medicine and operationalize it in diverse ways. In order to move toward a clearer, more holistic understanding of the concept, this article begins by identifying and defining three major elements of personalized genomic medicine commonly discussed by stakeholders: molecular medicine, pharmacogenomics, and health information technology. The integration of these three elements has the potential to improve health and reduce health care costs, but it also raises many challenges. This article endeavors to address these challenges by identifying five strategic areas that will require significant investment for the successful integration of personalized genomics into clinical care: (1) health technology assessment; (2) health outcomes research; (3) education (of both health professionals and the public); (4) communication among stakeholders; and (5) the development of best practices and guidelines. While different countries and global regions display marked heterogeneity in funding of health care in the form of public, private, or blended payor systems, previous analyses of personalized genomic medicine and attendant technological innovations have been performed without due attention to this complexity. Hence, this article focuses on personalized genomic medicine in the United States as a model case study wherein a significant portion of health care payors represent private, nongovernment resources. Lessons learned from the present analysis of personalized genomic medicine could usefully inform health care systems in other global regions where payment for personalized genomic medicine will be enabled through private or hybrid public-private funding systems.
Personalized Genomic Medicine; Personalized Medicine; Ethics; Genomics; Policy
This study explores social networkers’ interest in and attitudes toward personal genome testing (PGT), focusing on expectations related to the clinical integration of PGT results.
An online survey of 1,087 social networking users was conducted to assess 1) use and interest in PGT; 2) attitudes toward PGT companies and test results; and 3) expectations for the clinical integration of PGT. Descriptive statistics were calculated to summarize respondents’ characteristics and responses.
Six percent of respondents have used PGT, 64% would consider using PGT, and 30% would not use PGT. Of those who would consider using PGT, 74% would use it to gain knowledge about disease in their family. Of all respondents, 34% consider the information obtained from PGT to be a medical diagnosis. Of all respondents, 78% of those who would consider PGT would ask their physician for help interpreting test results, and 61% of all respondents believe that physicians have a professional obligation to help individuals interpret PGT results.
Respondents express interest in using PGT services, primarily for purposes related to their medical care and expect physicians to help interpret PGT results. Physicians should therefore be prepared for patient demands for information and counsel on the basis of PGT results.
personal genome testing; patient expectations; genetics; ethics; policy
Current genomic research policy calls for public data release, with specific consent for data sharing. Because most clinical investigators are not responsible for and do not anticipate data broadcast, few include information about data sharing in their informed consent process. Model language is therefore urgently needed, and should be responsive to research participants’ attitudes and judgments. The purpose of this study was to describe research participants’ attitudes and judgments about data release and their preferences for varying levels of control over decision-making.
Focus group sessions with patients and controls from a genetic study of epilepsy.
Despite wide variation in judgments, there was general interest in receiving information and making decisions about data sharing. Participants preferred multiple data sharing options, but were more likely to consent to public data release when given fewer options. For existing samples, most participants felt that genomic information should not be publicly released without explicit consent from research participants.
Specific information about data sharing ought to be included in the consent process for all genetic research. These participants desire multiple data release options, but the effect, if any, on consent to public release deserves further investigation.
Ethics; data release; sequencing; privacy; focus group
The Genetic Information Nondiscrimination Act of 2008 (GINA) was recently enacted in the United States. Its supporters have applauded the passage of GINA, and they hope that it will alleviate public fear about genetic discrimination and facilitate genetic testing and participation in genetic research. Critics worry that GINA does not provide adequate protection because it fails to address discrimination on the basis of non-genetic health-related information, and it only regulates the use of genetic information in health insurance and employment. Despite these limitations, GINA represents a major step forward in US policy. Additional research is needed to assess the impact of GINA on industry practice and public opinion. In the mean time, education about GINA and its limitations can help individuals make more informed decisions about genetic testing and participation in genetic research.
Interest in whole-genome research has grown substantially over the past few months. This article explores the challenging ethics issues associated with this work.
The recent completion of the first two individual whole-genome sequences is a research milestone. As personal genome research advances, investigators and international research bodies must ensure ethical research conduct. We identify three major ethical considerations that have been implicated in whole-genome research: the return of research results to participants; the obligations, if any, that are owed to participants’ relatives; and the future use of samples and data taken for whole-genome sequencing. Although the issues are not new, we discuss their implications for personal genomics and provide recommendations for appropriate management in the context of research involving individual whole-genome sequencing.
We undertook a qualitative e-mail survey of federally-funded principal investigators of their views of the US human subjects protection system, intended to identify the range of investigator attitudes. This was an exploratory study with a 14% response rate. Twenty-eight principal investigators responded; their comments were analyzed to show underlying themes, which are here presented along with supporting quotations.
There was consensus that it is important to protect human subjects from research abuse, but disagreement over how well the IRB system is functioning. Some researchers felt that the system is effective and serves its purpose well. Of those who support the system, some endorse its methods, purpose, and daily functioning, as they experience it, without reservation. Others, while expressing some frustration, feel that the purpose is important and their local IRB does its best to make a difficult system work well.
Those investigators who were more harshly critical commented on multiple flaws in the system, including (1) consent forms that are inappropriate and incomprehensible, (2) an emphasis on minutiae, and (3) concern with protecting the institution more than research subjects. Respondents told us that the IRB system is a particular burden for research in neurology, emergency medical conditions, repositories, and social sciences in general; a more comprehensive study might identify other problematic areas. Significant concern was expressed about the cost, inefficiency, and irrationality of IRB review. The IRB system works well for some researchers, but our results indicate that other investigators feel the costs outweigh the benefits.
Ethics Committees; Research; Questionnaires; Attitude