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Summary Genetic information is increasingly used at US border entry points, but the use of DNA in immigration contexts is not new. DNA testing for verification of identity or relationships for visa and asylum petitions began in the 1980s. Long-standing applications demonstrate both the utility and pitfalls of DNA testing in immigration contexts. Some of these pitfalls are shared with health-related contexts of DNA testing, but the power of government officials to deny immigration benefits, separate families, or make accusations of fraud among a vulnerable population elevates the potential harms, including stigmatization, discrimination, and coerced consent. We conducted semi-structured interviews with professional stakeholders on their understandings of the process of DNA testing, opinions on the role of DNA testing in immigration, and experiences with DNA applications in immigration. From the 22 interviews, we sourced 21 case examples involving DNA testing and supplemented these with 10 case examples provided by the study team. The 31 case examples capture instances of DNA testing for relationship or identity across five immigration contexts. Using the case examples, we developed three overarching utilities and six overarching pitfalls of DNA testing that apply across these immigration contexts. Our framework allows long-standing applications of DNA testing in immigration to inform stakeholders’ approaches to applications in new contexts. As the use of DNA data in immigration contexts expands, its implementation should recognize the utility of DNA data to both migrants and government while guarding against pitfalls that could undermine the human rights and dignity of a vulnerable population., The United States is expanding its use of relationship DNA testing in immigration contexts in volume and scope. Drawing on known case examples from interviews with professional stakeholders, we present a framework for understanding the utilities and pitfalls of relationship DNA testing across emergent use contexts.

Perceived lack of tools, and fears of the sensitivity of DNA data, should not be obstacles

With decreasing cost of biomedical technologies, the scale of the genetic and healthcare data have exponentially increased and become available to wider audiences. Hence, privacy of patients and study participants has garnered the attention of researchers and regulators alike. Availability of genetic and health care information for uses not anticipated at the time of collection gives rise to privacy concerns such that people suffer dignitary harm when their data is used in ways they did not desire or intend, even if no concrete economic damage results. In this workshop, we explore the issues surrounding data use to advance human health from a privacy perspective. Broadly this field can be considered in two encompassing areas: (1) Ethics and regulation of privacy: The ethical and regulatory frames through which we can consider privacy, the existing regulations regarding privacy and what is on the horizon, and implementation of such ethical considerations for data with the new Common Rule. (2) Approaches to ensuring privacy using technology: The technologies that allow responsible use and sharing of data such as encryption and the quantification of privacy leakages in publicly available data through privacy attacks for better risk-assessment tools.

Facial recognition from DNA refers to the identification or verification of unidentified biological material against facial images with known identity. One approach to establish the identity of unidentified biological material is to predict the face from DNA, and subsequently to match against facial images. However, DNA phenotyping of the human face remains challenging. Here, another proof of concept to biometric authentication is established by using multiple face-to-DNA classifiers, each classifying given faces by a DNA-encoded aspect (sex, genomic background, individual genetic loci), or by a DNA-inferred aspect (BMI, age). Face-to-DNA classifiers on distinct DNA aspects are fused into one matching score for any given face against DNA. In a globally diverse, and subsequently in a homogeneous cohort, we demonstrate preliminary, but substantial true (83%, 80%) over false (17%, 20%) matching in verification mode. Consequences of future efforts include forensic applications, necessitating careful consideration of ethical and legal implications for privacy in genomic databases., Prediction of face from DNA followed by matching to facial images has been proposed for forensic applications. Here, Sero et al. present a different approach that can establish facial identity from DNA without directly predicting the face but is based on classifying given faces by individual DNA-encoded traits.

Summary As genomic medicine expands, interest in how medical malpractice law will apply to such questions as whether and when to return new or updated genomic results has grown. Given that access to some genomic results (such as those pertaining to minors or those for which scientific interpretations are unsettled) is delayed for years, the “loss of chance” (LOC) doctrine is of particular potential relevance. Yet it has received relatively little attention among scholars of law and genomics. We performed legal research to determine the status of this malpractice doctrine across the United States and consider its potential applicability to genomic medicine. We further examined known genomic medicine malpractices to assess whether this doctrine had yet been invoked in that context. We identified a trend toward adoption of the LOC doctrine, finding 29 states (58%) have adopted, 15 states (30%) have rejected, and six states (12%) have deferred or not yet addressed the doctrine. Attempts to invoke or apply the doctrine in the known genomic medical malpractice cases were also found. While our findings do not provide cause for substantial concern, the availability of the LOC medical malpractice doctrine is a potentially important factor to consider when making programmatic decisions for genomic medicine. Future research examining whether liability risks posed by this doctrine prompt defensive medicine practices would be useful.

The verdict is in, so to speak. The Department of Health and Human Services (HHS) has issued the 2018 Common Rule, which purportedly “allows more flexibility in keeping with today's dynamic researc...

Forensic DNA methodologies have potential applications in the investigation of human trafficking cases. DNA and relationship testing may be useful for confirmation of biological relationship claims in immigration, identification of trafficked individuals who are missing persons, and family reunification of displaced individuals after mass disasters and conflicts. As these applications rely on the collection of DNA from non-criminals and potentially vulnerable individuals, questions arise as to how to address the ethical challenges of collection, security, and privacy of collected samples and DNA profiles. We administered a survey targeted to victims' advocates to gain preliminary understanding of perspectives regarding human trafficking definitions, DNA and sex workers, and perceived trust of authorities potentially involved in DNA collection. We asked respondents to consider the use of DNA for investigating adoption fraud, sex trafficking, and post-conflict child soldier cases. We found some key differences in perspectives on defining what qualifies as "trafficking." When we varied terminology between "sex worker" and "sex trafficking victim" we detected differences in perception on which authorities can be trusted. Respondents were supportive of the hypothetical models proposed to collect DNA. Most were favorable of DNA specimens being controlled by an authority outside of law enforcement. Participants voiced concerns focused on privacy, misuse of DNA samples and data, unintentional harms, data security, and infrastructure. These preliminary data indicate that while there is perceived value in programs to use DNA for investigating cases of human trafficking, these programs may need to consider levels of trust in authorities as their logistics are developed and implemented. Keywords: Human trafficking Language: en

Over the past decade, the proliferation of genetic studies on human health and disease has reinvigorated debates about the appropriate role of race and ancestry in research and clinical care. Here we report on the responses of genetics professionals to a survey about their views on race, genetics, and ancestry across the domains of science, medicine, and society. Through a qualitative content analysis of free-text comments from 515 survey respondents, we identified key themes pertaining to multiple meanings of race, the use of race as a proxy for genetic ancestry, and the relevance of race and ancestry to health. Our findings suggest that for many genetics professionals the questions of what race is and what race means remain both professionally and personally contentious. Looking ahead as genomics is translated into the practice of precision medicine and as learning health care systems offer continued improvements in care through integrated research, we argue for nuanced considerations of both race and genetic ancestry across research and care settings.

Patients with newly-described or rare genetic findings are turning to social media to find and connect with others. Blogs, Facebook groups, and Twitter have all been reported as tools for patients to connect with one another. However, the preferences for social media use and privacy among patients, their families, and these communities have not been well characterized. To explore preferences about privacy and membership guidelines, an online survey was administered to two web-based patient registries, Simons Variation in Individuals Project ( www.simonsvipconnect.org ) and GenomeConnect ( www.genomeconnect.org ). Over a three-month period, invitations were sent to 2524 individuals and 103 responses (4%) were received and analyzed. Responses indicate that Facebook is the most popular resource accessed within this sample population (99%). Participants used social media to look for information about their diagnosis or test results (83%), read posts from rare disease groups or organizations (73%), participate in conversations about their diagnosis (67%), and connect with others to find support (58%). Focusing on privacy issues in social media, respondents indicate that membership and access impact the level of comfort in sharing personal or medical information. Nearly 60% of respondents felt uncomfortable sharing photos or medical information within a public Facebook group, whereas only 12% of respondents felt uncomfortable sharing in private group targeted to families alone. Using this preliminary data concerning social media use and privacy, we developed points for genetic counselors to incorporate when discussing available support resources for patients with a new, or rare, genetic diagnosis or genetic test result. Genetic counselors are trained to provide anticipatory guidance to families adapting to new genetic information, and are well-equipped to help patients consider their preferences about using social media as a source of information and support.

Discussions about direct-to-consumer (DTC) DNA ancestry tests have to date been based primarily on conjectures, speculation, and anecdotes, despite the industry being more than a decade old. Representative, empirical data on consumer characteristics; motivations and expectations for testing; intended uses for the information; understanding of results; and behavioral and psychological reactions to the tests are absent. Although the 2010 American Society of Human Genetics white paper clarifies the number and some general characteristics of companies marketing and selling DNA ancestry tests, additional data about the industry’s practices have been unavailable. To promote a data-driven discussion of the DNA ancestry testing industry, we conducted a systematic investigation to identify companies selling DNA ancestry tests and conducted an empirical study of the industry’s practices using data collected from each company’s website. Here, we present a wealth of data, including an updated directory of companies, marketing slogans, product types and names, range of prices, diversity of reporting and representing results, noted benefits and limitations of testing, and a host of website practices. The tremendous diversity of tests, information, and practices of companies in the DNA ancestry sector should be considered when policies for best practice guidelines or regulatory oversight are being developed. Genet Med 2012:14(6):586–593

Scholars have spent considerable time discussing the challenges and importance of protecting privacy in the context of genomic medicine [see, e.g., 1]. There is a great deal of research and clinical potential to be gained from storing massive amounts of genotypic data but this must be weighed against the possible risks to individual privacy, a quandary some have described as “privacy versus the gold-mine” [2]. DNA is a unique identifier and has the potential to reveal medical (and non-medical) information about individuals and by consequence their family members. For instance, genomic data could reveal undesired pre-symptomatic health information, non-paternity, or even be used to frame a suspect at a crime scene [3]. Access to, or disclosure of, this information, whether authorized or not, could lead to various forms of misuse and discrimination (e.g. employment, insurance, and financial). The advent of whole genome sequencing has compounded privacy concerns because it could reveal entirely unanticipated information particularly as our ability to (re)interpret genomic sequence data is continually improving [1; see also 4-6]. In addition, genomic information could have consequences beyond the individual from whom it was derived, including both lineal relatives (e.g., children and grandchildren) and collateral relatives (e.g., siblings, cousins, nieces, and nephews) who may be unaware that the individual is undergoing sequencing. Intra-familial privacy issues are complex and vary from one family to another; however, in the clinical context physicians typically give precedence to individual patient privacy and autonomy over the interests of a patient’s relatives. For example, one patient who is found to carry a mutation in the BRCA1 or 2 genes, which increases the risk of breast and/or ovarian cancer, may not want this information revealed to family members for a variety of reasons whereas another patient receiving the same may choose to share this with all of his/her family members, only specific family members he/she worries may be at heightened risk, or even complete strangers to advance biomedical research [see, e.g., 7]. A patient’s care might be improved if the health care provider were able to ascertain genetic information of the relatives as well as that limited information on family medical history known to and shared by a specific patient; however, the idea of linking genomic records between family members or creating joint accounts containing certain genetic data to which multiple patients’ records have access has not yet garnered strong support. A frequent if not ubiquitous assumption in these discussions has been that the integration of whole genome sequencing (WGS)1 in health care would consist of a one-time sequencing of the patient’s genome and subsequent storage of the WGS data in the patient’s electronic health record (EHR) [e.g. 8-10]. Those WGS data could then be interpreted and reinterpreted by health care providers over the patient’s lifetime (or collaboratively “managed” by patients and clinicians [11]) as knowledge about the clinical relevance of genomic variants increases. One of the biggest clinical challenges to interpretation of an individual’s genome currently is the uncertain significance of many DNA variants, although this will likely improve over time. This ongoing need for reinterpretation of an individual’s genome has raised additional clinical concerns such as who is responsible for re-contacting patients when and if new information emerges, and how patients can be expected to give informed consent when the potential implications of WGS are unknown currently [12]. With such access to WGS data alongside scientific and technological capabilities for health care providers to mine those WGS data (sometimes for information that exceeds the scope of patient expectations or immediate health concerns), policy discussions have focused on risk management of “the incidentalome” [e.g., 13-14]. Discovering multiple abnormal incidental findings, including the dreaded variants of unknown significance (VUS), could place many undue burdens on clinicians and patients alike. Discussions that center on incorporating all genomic data into the EHR have the effect of medicalizing the genome [see also 16] by assuming all genomic information is relevant for determining medical risk when some portions of the genome have no known medical relevance whatsoever, despite being useful for non-healthcare purposes (such as ancestral or forensic information). Here, in contemplating patient privacy in personalized medicine, we question the medicalization of genomes in a broad sense, not only questioning the restriction of an individual’s access to genomic information by requiring such data to be obtained only through a health care provider, but also questioning the a priori medical relevance of all genomic sequence data. While genomic data can, and do, provide clinically relevant information, the entire genomic sequence will not be relevant or necessary in most contexts. Each locus in the genome has its own evolutionary story and an anthropological (not just medical) genetics perspective is necessary. Some specific loci in the genome may be medically relevant for some individuals, in some contexts, and during some stages of development while irrelevant for other individuals, in other contexts, or during other stages of development. Assessing the medical relevance of genomic data is limited by our present understanding of normal human genomic variation, reporting biases of positive results in the literature, and the under-representation of genomic research involving individuals from racial and ethnic minorities. Thus, the determination of medical relevance of genomic data is appropriately a locus-by-locus, patient-by-patient, visit-by-visit, case-by-case decision. We further question the assumption that WGS data should be incorporated into the EHR without deliberate consideration given to privacy and standard of care problems that may accompany the “hoarding” of genomic data in clinical systems. We emphasize that our suggestion relates to the storage of clinical data as opposed to research data, where storage of the entire genome may indeed be necessary.

Sports-related genetic testing is a sector of the diverse direct-to-consumer (DTC) industry that has not yet been examined thoroughly by academic scholars. A systematic search was used to identify companies in this sector and content analysis of online information was performed. More than a dozen companies were identified. Marketing practices observed generally did not target parents for child testing, and marketing images were mild compared to images used in popular media. Information was provided at a high reading level (industry-wide Flesh-Kincaid Grade Levels > 11). While ~75% of companies provide privacy policies and terms of service prior to purchase and ~40% provide scientific citations for their tests

As U.S. courts grapple with constitutional challenges to DNA identification applications, judges are resting legal decisions on the fingerprint analogy, questioning whether the information from a DNA profile could, in light of scientific advances, reveal biomedically relevant information. While CODIS loci were selected largely because they lack phenotypic associations, how this criterion was assessed is unclear. To clarify their phenotypic relevance, we describe the standard and recommended CODIS markers within the context of what is known currently about the genome. We characterize the genomic regions and phenotypic associations of the 24 standard and suggested CODIS markers. None of the markers are within exons, although 12 are intragenic. No CODIS genotypes are associated with known phenotypes. This study provides clarification of the genomic significance of the key identification markers and supports--independent of the forensic scientific community--that the CODIS profiles provide identification but not sensitive or biomedically relevant information.

How cells maintain their ploidy is relevant to cellular development and disease. Here, we investigate the mechanism by which the bacterium Bacillus subtilis enforces diploidy as it differentiates into a dormant spore. We demonstrate that a sporulation-induced protein SirA (originally annotated YneE) blocks new rounds of replication by targeting the highly conserved replication initiation factor DnaA. We show that SirA interacts with DnaA and displaces it from the replication origin. As a result, expression of SirA during growth rapidly blocks replication and causes cell death in a DnaA-dependent manner. Finally, cells lacking SirA over-replicate during sporulation. These results support a model in which induction of SirA enforces diploidy by inhibiting replication initiation as B. subtilis cells develop into spores.