Challenges of web-based personal genomic data sharing

In order to study the relationship between genes and diseases, the increasing availability and sharing of phenotypic and genotypic data have been promoted as an imperative within the scientific community. In parallel with data sharing practices by clinicians and researchers, recent initiatives have been observed in which individuals are sharing personal genomic data. The involvement of individuals in such initiatives is facilitated by the increased accessibility of personal genomic data, offered by private test providers along with availability of online networks. Personal webpages and on-line data sharing platforms such as Consent to Research (Portable Legal Consent), Free the Data, and Genomes Unzipped are being utilized to host and share genotypes, electronic health records and family history uploaded by individuals. Although personal genomic data sharing initiatives vary in nature, the emphasis on the individuals’ control on their data in order to benefit research and ultimately health care has seen as a key theme across these initiatives. In line with the growing practice of personal genomic data sharing, this paper aims to shed light on the potential challenges surrounding these initiatives. As in the course of these initiatives individuals are solicited to individually balance the risks and benefits of sharing their genomic data, their awareness of the implications of personal genomic data sharing for themselves and their family members is a necessity. Furthermore, given the sensitivity of genomic data and the controversies around their complete de-identifiability, potential privacy risks and harms originating from unintended uses of data have to be taken into consideration

Coming of age of personalized medicine: challenges ahead

A report on the 5th International DNA Sampling Conference 'The age of personal genomics', Banff, Canada, 16-18 September 2009

Is there a right time to know? The right not to know and genetic testing in children

The increasing implementation of next-generation sequencing technologies in the clinical context and the expanding commercial offer of genetic tests directly-toconsumers has increased the availability of previously inaccessible genetic information. A particular concern in both situations is how the volume of novel information will affect the processing of genetic and genomic information from minors. For minors, it is argued that in the provision of genetic testing, their "right not to know" should be respected as much as possible. Testing a minor early in life eliminates the possibility for the minor to make use of his or her "right not to know." The article discusses the theoretical underpinnings of the right not know, analyzes reasons why various direct-to-consumer companies process samples from minors, and discusses the right not to know in relation to common complex disorders in a pediatric population

From the principles of genomic data sharing to the practices of data access committees

Sharing genomic research data through controlled-access databases has increased in recent years. Policymakers and funding organizations endorse genomic data sharing in order to optimize the use of public funds and to increase the statistical power of databases. Well-established data access arrangements and data access committees (DACs)responsible for reviewing and managing requests for access to genomic databasesare therefore central for implementing the policies and principles of data sharing. This article aims to investigate the functionality of DACs through the perspective of existing practices

Controlled access under review : improving the governance of genomic data access

In parallel with massive genomic data production, data sharing practices have rapidly expanded over the last decade. To ensure authorized access to data, access review by data access committees (DACs) has been utilized as one potential solution. Here we discuss core elements to be integrated into the fabric of access review by both established and emerging DACs in order to foster fair, efficient, and responsible access to datasets. We particularly highlight the fact that the access review process could be adversely influenced by the potential conflicts of interest of data producers, particularly when they are directly involved in DACs management. Therefore, in structuring DACs and access procedures, possible data withholding by data producers should receive thorough attention

How international is bioethics? A quantitative retrospective study

BACKGROUND: Studying the contribution of individual countries to leading journals in a specific discipline can highlight which countries have the most impact on that discipline and whether a geographic bias exists. This article aims to examine the international distribution of publications in the field of bioethics. METHODS: Retrospective quantitative study of nine peer reviewed journals in the field of bioethics and medical ethics (Bioethics, Cambridge Quarterly of Healthcare Ethics, Hastings Center Report, Journal of Clinical Ethics, Journal of Medical Ethics, Kennedy Institute of Ethics Journal, Nursing Ethics, Christian Bioethics, and Theoretical Medicine and Bioethics). RESULTS: In total, 4,029 articles published between 1990 and 2003 were retrieved from the nine bioethical journals under study. The United States (59.3%, n = 2390), the United Kingdom (13.5%, n = 544), Canada (4%, n = 160) and Australia (3.8%, n = 154) had the highest number of publications in terms of absolute number of publications. When normalized to population size, smaller affluent countries, such as New Zealand, Finland and Sweden were more productive than the United States. The number of studies originating from the USA was decreasing in the period between 1990 and 2003. CONCLUSION: While a lot of peer reviewed journals in the field of bioethics profile themselves as international journals, they certainly do not live up to what one would expect from an "international" journal. The fact that English speaking countries, and to a larger extent American authors, dominate the international journals in the field of bioethics is a clear geographic bias towards the bioethical discussions that are going on in these journals

Pre- and post-testing counseling considerations for the provision of expanded carrier screening : exploration of European geneticists’ views

Background: Carrier screening is generally performed with the aim of identifying healthy couples at risk of having a child affected with a monogenic disorder to provide them with reproductive options. Expanded carrier screening (ECS), which provides the opportunity for multiple conditions to be screened in one test, offers a more cost-effective and comprehensive option than screening for single disorders. However, implementation of ECS at a population level would have implications for genetic counseling practice. Methods: We conducted semi-structured interviews with sixteen European clinical and molecular geneticists with expertise in carrier screening to explore their views on the implementation of ECS in the clinical setting. Results: Using inductive content analysis, we identified content categories relevant to the pre- and post-test settings. Participants believed ECS would ideally be targeted at couples before pregnancy. There was some disagreement regarding the acceptability of performing ECS in individuals, with several participants actively opposing individual-based screening. In addition, participants discussed the importance of ensuring informed and voluntary participation in ECS, recommending measures to minimize external pressure on prospective parents to undergo testing. A need for adequate counseling to foster informed, autonomous reproductive decision-making and provide support for couples found to be at risk was emphasized. Conclusions: Practical challenges in optimizing pre-test education and post-test counseling should not be underestimated and they should be carefully addressed before implementing ECS in the clinical setting

The use of samples originating from doping control procedures for research purposes : a qualitative study

Doping control samples may be used for research purposes by the World Anti-Doping Agency (WADA)-accredited laboratories after their compulsory storage period has expired. This study investigates opinions of stakeholders toward the governance of antidoping research on these samples and to evaluate the current framework. Semistructured interviews were conducted with stakeholders in antidoping research. The distinction between research and quality assurance in the International Standard for Laboratories (ISL) is neither well-understood nor interpreted uniformly by WADA-accredited labs. Most laboratories would not seek ethics approval for research on doping control samples. Interviewees considered that athletes should be better informed on what antidoping research can entail. A consistent and uniform approach toward the consent should be employed worldwide. Standards and safeguards should be implemented to reduce the risk of reidentification. Centralization of the Informed Consent Form in the ADAMS (Anti-Doping Administration & Management System) database would facilitate providing more information and allow the implementation of the right to withdraw

Where are you going, where have you been: a recent history of the direct-to-consumer genetic testing market

In recent years, various private companies have been marketing and offering genetic tests directly to consumers. This article reviews the recent history of this commercial phenomenon. In particular, we discuss and describe the following subjects: (1) the factors that allowed for the creation of the direct-to-consumer (DTC) genetic testing (GT) market; (2) information regarding the size and potential success or failure of the DTC GT market; (3) recent changes in the DTC GT market; and (4) the recent events that may have an impact on the regulatory oversight of DTC genetic testing and the future evolution of this market. This review of factors suggests that despite the possibility of a change of business model as well as increased regulation, the commercialization of genetic testing is here to stay. As such it is important to pay close attention not only to the science underlying these tests but also to the ethical, legal, and social issues

Readability of informed consent forms for whole-exome and whole-genome sequencing

Whole-exome and whole-genome sequencing (WES, WGS) can generate an unprecedented amount of complex information, making the informed consent (IC) process challenging. The aim of our study was to assess the readability of English IC forms for clinical whole-exome and whole-genome sequencing using the SMOG and Flesch-Kincaid formulas. We analysed 36 forms, most of which were from US providers. The median readability grade levels were 14.75 (the SMOG formula) and 12.2 (the Flesch-Kincaid formula); these values indicate the years of education after which a person would be able to understand a text studied. All forms studied seem to fail to meet the average recommended readability grade level of 8 (e.g. by Institutional Review Boards of US medical schools) for IC forms, indicating that the content of the forms may not be comprehensible to many patients. The sections aimed at health care professionals (HCPs) in the forms indicate that HCPs should be responsible for explaining IC information to the patients. However, WES and WGS may be increasingly offered by primary care professionals who may not (yet) have sufficient training to be able to communicate effectively with patients about genomics. Therefore, to secure an adequate, truly informed consent process, the task of developing good, legible examples of IC forms along with educating HCPs in genomics should be taken seriously, and adequate resources should be allocated to enable these tasks