Sociotechnical safeguards for genomic data privacy.

Recent developments in a variety of sectors, including health care, research and the direct-to-consumer industry, have led to a dramatic increase in the amount of genomic data that are collected, used and shared. This state of affairs raises new and challenging concerns for personal privacy, both legally and technically. This Review appraises existing and emerging threats to genomic data privacy and discusses how well current legal frameworks and technical safeguards mitigate these concerns. It concludes with a discussion of remaining and emerging challenges and illustrates possible solutions that can balance protecting privacy and realizing the benefits that result from the sharing of genetic information.

Perspectives on choice of law challenges in multistate precision medicine research.

Federal law establishes minimum standards for protecting human research participants, but many states have enacted laws that may apply to research. Precision medicine research in particular implicates state laws that govern an array of topics, including human subjects research, genetic testing, and both general and genetic privacy and discrimination. Thus, the determination of which state's laws apply, and under what circumstances, can substantially alter participant rights and protections. To shed light on this topic, we conducted interviews with experts in law, human research protections, and precision medicine research. Our goal was to better understand their experiences with choice of law issues, the effects of state law variation on research practices and stakeholder groups, and approaches to addressing such variation. Interviewees were aware of state-based variation in laws that could be applied to research. However, the extent to which they perceived such variability as problematic differed, as did their perceptions of stakeholder roles and responsibilities for addressing state law variation, and their estimations of requisite knowledge among IRBs and researchers. These divergent perspectives create an ethical and legal quandary, and further empirical and normative work is needed to fully characterize the implications of substantive differences in participant rights and protections.

Addressing choice of law challenges in multi-state precision medicine research: experts' assessment of key factors.

Precision medicine research implicates numerous state laws that may affect participants' rights and protections and are not preempted by federal law. The choice of which state's laws apply, and under what circumstances, can have significant impact on research design and oversight. But neither of the traditional approaches to choice of law issues-contractual agreement or determination by a court after a dispute arises-fit the research context well. We hosted a series of workshops with choice of law experts and research law and ethics experts to identify factors that are most crucial to account for in a future choice of law precision medicine research framework. Our workshops focused on precision medicine 'places' and choice of law factors; there was consensus that 'place where the harm occurred' was relevant and best represented by where the participant resides and/or where the research/institution is located. Our experts identified factors that need to be accounted for in a future choice of law framework. They also identified potential approaches, including a federal law or model state law as ways of achieving more uniformity of protections and a comprehensive database of laws, which merit further consideration to provide IRBs and researchers the guidance they require.

Direct-to-consumer genetic testing: Prospective users' attitudes toward information about ancestry and biological relationships.

Direct-to-consumer genetic testing is marketed as a tool to uncover ancestry and kin. Recent studies of actual and potential users have demonstrated that individuals' responses to the use of these tests for these purposes are complex, with privacy, disruptive consequences, potential for misuse, and secondary use by law enforcement cited as potential concerns. We conducted six focus groups with a diverse sample of participants (n = 62) who were aware of but had not used direct-to-consumer genetic tests, in an effort to understand more about what people considering these tests think about the potential value, risks, and benefits of such testing, taking into account use by third parties, such as potential kin and law enforcement. Participants differed widely in the perceived value of direct-to-consumer genetic tests for ancestry and kinship information for their own lives, including the desirability of contact with previously unknown relatives. Some perceived ancestry testing as mere curiosity or entertainment, while others, particularly those who had gaps in their family history, few living relatives, or who were adopted, saw greater value. Concerns about intrusion into one's life by purported kin and control of data were widespread, with many participants expressing concern about secondary uses of data that could harm users or their families. The use of direct-to-consumer genetic tests data for forensic genealogy elicited a particularly wide array of reactions, both spontaneously and in response to specific discussion prompts, mirroring the current public debate about law enforcement access to such data. The themes uncovered through our investigation warrant specific attention in the continued development of the science, policy, and practice of commercial direct-to-consumer genetic testing.

The law of genetic privacy: applications, implications, and limitations.

Recent advances in technology have significantly improved the accuracy of genetic testing and analysis, and substantially reduced its cost, resulting in a dramatic increase in the amount of genetic information generated, analysed, shared, and stored by diverse individuals and entities. Given the diversity of actors and their interests, coupled with the wide variety of ways genetic data are held, it has been difficult to develop broadly applicable legal principles for genetic privacy. This article examines the current landscape of genetic privacy to identify the roles that the law does or should play, with a focus on federal statutes and regulations, including the Health Insurance Portability and Accountability Act (HIPAA) and the Genetic Information Nondiscrimination Act (GINA). After considering the many contexts in which issues of genetic privacy arise, the article concludes that few, if any, applicable legal doctrines or enactments provide adequate protection or meaningful control to individuals over disclosures that may affect them. The article describes why it may be time to shift attention from attempting to control access to genetic information to considering the more challenging question of how these data can be used and under what conditions, explicitly addressing trade-offs between individual and social goods in numerous applications.

Public Attitudes Toward Direct to Consumer Genetic Testing.

Direct to consumer genetic testing (DTC-GT) is an emerging service that allows individuals to have their DNA tested without having to consult a healthcare provider. DTC-GT can provide insight into various aspects about an individual, including their health and ancestry. However, testing may pose privacy risks and yield distressing results. Despite the growing popularity of DTC-GT, public attitudes toward such services remain largely ill-defined. Using Amazon Mechanical Turk, we administered a web-based survey to over 1,000 individuals to obtain intuition into public attitudes about DTC-GT. S urvey questions were grounded in a literature review of people's views about DTC-GT. The results of the survey indicated that respondents were interested in DTC-GT as a possible way to gain insight about health, ancestry, and family relationships, as well as advance research. Despite this, respondents were concerned that DTC-GT companies and other users of their DTC-GT data would infringe upon their privacy.

Isolation and Demembranation of Xenopus Sperm Nuclei.

The inherent experimental advantages of intact amphibian eggs have been exploited for several decades to advance our understanding of fundamental developmental processes and the cell cycle. Characterization of these processes at the molecular level has been greatly advanced by the use of cell-free extracts, which permit the development of biochemically tractable approaches. Demembranated Xenopus laevis sperm nuclei have been used with cell-free extracts to recapitulate cell cycle progression and to control the cell cycle state of the egg extract. This system has become an invaluable and widely used tool for studies of cell cycle regulation and many downstream events. Here, we describe a protocol, derived in part from other published protocols and modified over time, for the preparation of Xenopus sperm nuclei that can be used in a variety of in vitro assays.

Who Knows What, and When?: A Survey of the Privacy Policies Proffered by U.S. Direct-to-Consumer Genetic Testing Companies.

Direct-to-consumer genetic testing (DTC-GT) companies have proliferated in the past several years. Based on an analysis of genetic material submitted by consumers, these companies offer a wide array of services, ranging from providing information about health and ancestry to identification of surreptitiously-gathered biological material sent in by suspicious spouses. Federal and state laws are ambiguous about the types of disclosures these companies must make about how the genetic information they obtain is collected, used, and shared. In an effort to assist in developing such laws, this Article reports a survey of the privacy policies these companies purport to follow. It canvasses ninety DTC-GT companies operating in the United States and provides a detailed analysis of whether and to what extent those policies inform consumers about how their genetic information will be used and secured, with whom it will be shared, and a host of other issues. Using the Federal Trade Commission's articulation of the Fair Information Practice Principles and the agency's proposed Privacy Framework as the baseline, we conclude that most policies fall well short of the ideal.

A regulatory module controlling pharyngeal development and function in Caenorhabditis elegans.

In Caenorhabditis elegans, the differentiation and morphogenesis of the foregut are controlled by several transcriptional regulators and cell signaling events, and by PHA-1, an essential cytoplasmic protein of unknown function. Previously we have shown that LIN-35 and UBC-18-ARI-1 contribute to the regulation of pha-1 and pharyngeal development through the Zn-finger protein SUP-35/ZTF-21. Here we characterize SUP-37/ZTF-12 as an additional component of the PHA-1 network regulating pharyngeal development. SUP-37 is encoded by four distinct splice isoforms, which contain up to seven C2H2 Zn-finger domains, and is localized to the nucleus, suggesting a role in transcription. Similar to sup-35, sup-37 loss-of-function mutations can suppress both LOF mutations in pha-1 as well as synthetic-lethal double mutants, including lin-35; ubc-18, which are defective in pharyngeal development. Genetic, molecular, and expression data further indicate that SUP-37 and SUP-35 may act at a common step to control pharyngeal morphogenesis, in part through the transcriptional regulation of pha-1. Moreover, we find that SUP-35 and SUP-37 effect pharyngeal development through a mechanism that can genetically bypass the requirement for pha-1 activity. Unlike SUP-35, SUP-37 expression is not regulated by either the LIN-35 or UBC-18-ARI-1 pathways. In addition, SUP-37 carries out two essential functions that are distinct from its role in regulating pharyngeal development with SUP-35. SUP-37 is required within a subset of pharyngeal muscle cells to facilitate coordinated rhythmic pumping and in the somatic gonad to promote ovulation. These latter observations suggest that SUP-37 may be required for the orchestrated contraction of muscle cells within several tissues.