Month: February 2016

Genomic data sharing: How much oversight is necessary

This is a guest blog post by Mahsa Shabani, LL.B., LL.M., MA., a PhD Candidate at the Center for Biomedical Ethics and Law, University of Leuven. Her research interests revolve around ethical, legal and social aspects of genetics and genomics research including governance of biobanks and global collaborative genomics research and data sharing. Originally published in the Bill of Health blog Introducing data sharing practices into the genomic research has brought a number of concerns in research ethics and governance to the fore. For instance, research participants and the general public raised concerns about potential privacy issues in personal genomic data protection, as well as the scope of the secondary uses. In order to address such concerns, Data Access Committees (DACs) were seen crucial in the governance of main genomic databases such as the database of Genotypes and Phenotypes (dbGaP) and the European Genome-phenome Archive (EGA). Surprisingly, the component of access review, the structure, and the functionality of such committees have been barely scrutinized to date. In a recent study published in Genetics in Medicine, we solicited the opinion of 20 DAC members and experts on genomic data access. Specifically, the interviewees were asked about the goals of access review and their experiences with reviewing the ethical and scientific aspects of […]

GenomeConnect: connecting patients and researchers

This is a guest post by the GenomeConnect team. Patients with new genetic diagnoses are increasingly turning to social media and other web resources to try and find other families with the same genetic diagnosis and research opportunities. GenomeConnect, an online patient registry developed as part of the National Institutes of Health funded Clinical Genome Resource (ClinGen) project, is a resource to help patients form connections and partner with researchers to make genomic advances possible. Participation and enrollment in GenomeConnect are open to anyone that has had genetic testing, regardless of diagnosis or test result.  Additionally, participation is completely online allowing individuals from around the world to participate. After completing the online consent process, participants are asked to complete a health survey that reviews each body system to capture basic health information. From there, participants are asked to upload their genetic testing report to allow GenomeConnect staff to capture important genomic information. After participants have shared their genetic and health information through the online portal, that information is prepared for de-identified sharing with approved, publicly available databases, such as NCBI’s ClinVar database, a repository for genomic variants. Once enrolled, GenomeConnect participants have the ability to match with one another via […]

What Open Access is and what it is not

This is a guest post by Nancy Pontika, Open Access Aggregation Officer at the COnnecting REpositories (CORE) project, Knowledge Media Institute, Open University. What is Open Access and why is it useful? The scholarly communications landscape is constantly changing. Printed journals have been replaced with electronic publications; authors refrained from using strict copyright rules, such as  “All Rights Reserved” licenses, and shifted to the use of licenses with more flexible rights that allow content re-use, like Creative Commons; finally, creators of scientific content are more willing than ever to share their research findings from their own computers with everyone in the world. These three aforementioned components constitute the definition of “open access” (OA), which is the movement that aims to disseminate digital scientific content online and free of cost, with limited or no rights restrictions. Established by the Budapest Open Access Initiative  (BOAI) in 2002, OA can be delivered via two main routes: open access journals (Gold OA) and repositories (Green OA); the latter are further divided into two main categories of subject and institutional repositories. OA attempts to provide a viable solution to the journal crisis and the constantly increasing subscription prices of scientific journals, which rise faster than […]

DNAdigest interviews Patients Know Best

Dr Mohammad Al-Ubaydli is the founder and CEO of Patients Know Best, an organisation that moves the data custodianship into the hands of the patients, to facilitate data sharing and data access between the patient and the clinicians or service providers. We interviewed Mohammad about his views of data sharing in the domain of genetics research and he gave a number of examples of how data sharing is a multi-faceted problem, and several aspects of the problem are not often discussed. What is your background? I’m a physician and programmer from Cambridge – I wrote six books about IT in health care, two of which explain how to share medical records with patients – and I’m a patient with a rare disease. Because of my interest in patients understanding their records and thus their health I started Patients Know Best, a social enterprise that puts patients in control of their data. It is currently used by over 100 customers across 8 different countries, including one customer rolling this out for over 1 million patients’ records. “Data sharing for medical research is a good thing” – or not? What is your take? I think making data available for medical research is […]

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