Addressing Benefits, Risks and Consent in Next Generation Sequencing Studies

Abstract

The sequencing of the human genome and technological advances in DNA sequencing have led to a revolution with respect to DNA sequencing and its potential to diagnose genetic disorders. However, requests for open access to genomic data must be balanced against the guiding principles of the Common Rule for human subject research. Unfortunately, the risks to patients involved in genomic studies are still evolving and as such may not be clear to learned and well-intentioned scientists. Central to this issue are the strategies that enable human participants in such studies to remain anonymous, or de-identified. The wealth of genomic data on the Internet in genomic data repositories and other databases has enabled de-identified data to be broken and research subjects to be identified. The security of de-identification neglects the fact that DNA itself is an identifying element. Therefore, it is questionable whether data security standards can ever truly protect the identity of a patient, under the current conditions or in the future. As Big Data methodologies advance, additional sources of data may enable the re-identification of patients enrolled in next-generation sequencing (NGS) studies. As such, it is time to re-evaluate the risks of sharing genomic data and establish new guidelines for good practices. In this commentary, I address the challenges facing federally funded investigators who need to strike a balance between compliance with federal (US) rules for human subjects and the recent requirement for open access/sharing of data from National Institute for Health (NIH)-funded studies involving human subjects.

Application of next-generation sequencing technology to precision medicine in cancer: joint consensus of the Tumor Biomarker Committee of the Chinese Society of Clinical Oncology

“…If such a situation occurs to the patient, the patient and family members should be informed as soon as possible, and next steps should be discussed; (3) Gene sequencing can assist in personalized therapy; however, the final decision must be made by the clinician; (4) Testing results only refer to the corresponding samples submitted; (5) The patient’s ID, clinical information, and test results must be kept confidential by the testing institution. Patients must be aware of the above agreement terms and sign informed consent forms before testing 20,72-74 .…”