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Recent breakthroughs in criminal investigations, especially of high-profile cold cases, have helped to consolidate the role of DNA analysis in investigative contexts. Consequently, some jurisdictions are looking to expand DNA collection and analysis methods. In Canada, legislation has been proposed to expand the National DNA Databank (NDDB) and to allow familial searching in criminal and forensic investigations. This article outlines the ethical implications of the proposed legislation and, more broadly, of genealogical methods already in use that operate outside the NDDB and rely heavily on for-profit and consumer DNA services. Current DNA analysis within the criminal justice system is heavily regulated and provides important protections not only for individuals but also for genetic relatives whose biometric data is indirectly implicated. In contrast, familial searching poses risks for offender privacy as well as for their relatives. Additionally, the expanding practice of genetic genealogical searching relies on unregulated commercial products that use different technology to expose highly detailed genetic information. This technology falls short of rigorous investigational standards and poses significant problems for informed consent. We conclude that expanding DNA collection within the NDDB to include familial searching risks exacerbating existing systemic bias and that genetic genealogical searching outside of the NDDB is incompatible with existing Canadian legislation that safeguards privacy, genetic non-discrimination, and fundamental rights and freedoms., Les récentes avancées en matière d’enquêtes criminelles, en particulier dans les affaires non résolues très médiatisées, ont contribué à consolider le rôle de l’analyse d’ADN dans les contextes d’enquête. Par conséquent, certaines juridictions cherchent à étendre les méthodes de collecte et d’analyse de l’ADN. Au Canada, une loi a été proposée pour élargir la Banque nationale de données génétiques (BNDG) et autoriser les recherches familiales dans les enquêtes criminelles et médico-légales. Cet article présente les implications éthiques de la législation proposée et, plus largement, des méthodes généalogiques déjà utilisées qui fonctionnent en dehors de la BNDG et reposent largement sur des services d’ADN à but lucratif et grand public. Les analyses d’ADN effectuées actuellement dans le cadre du système de justice pénale sont fortement réglementées et offrent d’importantes protections non seulement aux individus, mais aussi à leurs parents génétiques, dont les données biométriques sont indirectement impliquées. En revanche, les recherches familiales présentent des risques pour la vie privée des délinquants et de leurs proches. En outre, la pratique de plus en plus répandue de la recherche généalogique repose sur des produits commerciaux non réglementés qui utilisent une technologie différente pour exposer des informations génétiques très détaillées. Cette technologie ne répond pas à des normes d’investigation rigoureuses et pose des problèmes importants en matière de consentement éclairé. Nous concluons que l’élargissement de la collecte d’ADN dans la BNDG pour y inclure la recherche familiale risque d’exacerber les préjugés systémiques existants et que la recherche généalogique génétique à l’extérieur de la BNDG est incompatible avec la législation canadienne actuelle qui protège la vie privée, la non-discrimination génétique et les droits et libertés fondamentaux.

The General Data Protection Regulation aims to protect data subjects by granting them control over their data. The shared nature of genetic data causes significant challenges in this framework by posing the question of whether the donor's biological family members can also be considered data subjects or not. In this respect, we have examined both scenarios and concluded that biological family members could indeed be considered in the scope of the data protection framework. However, we highlighted certain shortcomings attached to this interpretation, especially when biological family members exercise their data subject rights. Hence, we explored potential conflicts that might arise when biological family members exercise their right to information, right to access, right to erasure and right to restriction of processing. As a practical solution to this pressing problem, we called on the European Data Protection Board to revisit the 2004 Working Document on Genetic Data in order to develop principles to be applied when solving such conflicts and thus provide certainty and clarity to genetic data processing.

This article sheds a light on how the data protection requirements enshrined in the General Data Protection Regulation (GDPR) relate to shaping genetic privacy in the context of a complex and integrated genetic testing enterprise. It suggests that the informational dimension of genetic privacy in the era of data protection could be described as a sphere of controlled access. Given that the GDPR does not prescribe quantitative or contextual limitations relating to access once the applicable requirements are met, one could argue that there are good preconditions for the field to head in the direction of genetic transparency. This puts on the agenda the questions of what challenges this could bring and whether adequate mechanisms exist to deal with them., Vetenskapsrådet, id 2017-02992, “Beslutsfattande för barn vid medicinsk behandling med ovissa resultat”

PurposeClear and accurate genetic information should be available to health-care consumers at an individualized level of comprehension. The objective of this study is to evaluate the complexity of common online resources and to simplify text content using automated text processing tools.MethodsWe extracted all text from Genetics Home Reference and MedlinePlus in bulk and analyzed content using natural language processing. We applied custom tools to improve the readability and compared readability before and after text optimization.ResultsCommonly used educational materials were more complex than the recommended reading level for the general public. Genetic health information entries from Genetics Home Reference (n = 1279) were written at a median 13.0 grade level. MedlinePlus entries, which are not exclusively genetic (n = 1030), had a median grade level of 7.7. When we optimized text for the 59 actionable conditions by prioritizing medical details using a standard structure, the average reading grade level improved.ConclusionFactors that increase complexity are long sentences and difficult words. Future strategies to reduce complexity include prioritizing relevant details and using more illustrations. Simplifying and providing standardized online health resources would benefit diverse consumers and promote inclusivity.

Direct-to-consumer (DTC) genetics services are increasingly popular, with tens of millions of customers. Several DTC genealogy services allow users to upload genetic data to search for relatives, identified as people with genomes that share identical by state (IBS) regions. Here, we describe methods by which an adversary can learn database genotypes by uploading multiple datasets. For example, an adversary who uploads approximately 900 genomes could recover at least one allele at SNP sites across up to 82% of the genome of a median person of European ancestries. In databases that detect IBS segments using unphased genotypes, approximately 100 falsified uploads can reveal enough genetic information to allow genome-wide genetic imputation. We provide a proof-of-concept demonstration in the GEDmatch database, and we suggest countermeasures that will prevent the exploits we describe.

The Global Alliance for Genomics and Health (GA4GH) created the Beacon Project as a means of testing the willingness of data holders to share genetic data in the simplest technical context-a query for the presence of a specified nucleotide at a given position within a chromosome. Each participating site (or "beacon") is responsible for assuring that genomic data are exposed through the Beacon service only with the permission of the individual to whom the data pertains and in accordance with the GA4GH policy and standards.While recognizing the inference risks associated with large-scale data aggregation, and the fact that some beacons contain sensitive phenotypic associations that increase privacy risk, the GA4GH adjudged the risk of re-identification based on the binary yes/no allele-presence query responses as acceptable. However, recent work demonstrated that, given a beacon with specific characteristics (including relatively small sample size and an adversary who possesses an individual's whole genome sequence), the individual's membership in a beacon can be inferred through repeated queries for variants present in the individual's genome.In this paper, we propose three practical strategies for reducing re-identification risks in beacons. The first two strategies manipulate the beacon such that the presence of rare alleles is obscured; the third strategy budgets the number of accesses per user for each individual genome. Using a beacon containing data from the 1000 Genomes Project, we demonstrate that the proposed strategies can effectively reduce re-identification risk in beacon-like datasets.

En el ámbito del derecho a la intimidad es donde se manifiesta más claramente la tensión entre los derechos individuales y el interés general en el ámbito de la investigación penal a través de marcadores de ADN, pues todo contacto físico supone inevitablemente traspasar los límites de la personalidad humana. La intimidad lato sensu no es un bien jurídico de fácil definición porque engloba, no sólo el concepto de la esfera íntima en la que se incluyen las facultades clásicas de exclusión de terceros, sino que afecta a todos los derechos de la personalidad. Debemos distinguir a su vez entre la intimidad corporal y la intimidad personal, incluyendo, dentro de esta última, la llamada intimidad genética, que es la más vulnerable en este tipo de diligencias de investigación penal y que por ello necesita de una protección reforzada, In the area of the right to privacy is where the tension between individual rights and the general interest in the field of criminal investigation through DNA markers is most clearly manifested, as physical contact means inevitably overstep the limits of human personality. Lato sensu privacy is not an easy legal definition because it encompasses not only the concept of the private sphere in which the classical powers of exclusion of third parties are included, but affects all personality rights. We must distinguish also between the physical intimacy and personal privacy, including, within the latter, the so-called genetic privacy, which is the most vulnerable in this type of criminal investigations and therefore needs an increased protection

Background and objectiveThe potential application of whole-genome sequencing (WGS) to state-mandated standard newborn screening (NBS) challenges the traditional public health approach to NBS and raises ethical, policy, and clinical practice issues. This article examines the perspectives and values of diverse healthy pregnant women and parents of children diagnosed with a primary immunodeficiency disorder about traditional NBS and expanded NBS with the use of WGS.MethodsWe conducted 4 focus groups (3 in English and 1 in Spanish) with socioeconomically and ethnically diverse pregnant women (n = 26), and a comparison group with parents of children diagnosed with a primary immunodeficiency disorder (n = 5).ResultsPediatric policy-relevant themes that emerged from our analysis of the focus group data are presented within 4 categories: (1) perspectives on traditional NBS, (2) informed consent, (3) return of results, and (4) storage and retrieval of results. Analyses indicate that study participants desired greater inclusion in the NBS process. Despite an optimistic orientation to the potential benefits and limited harms likely to result from genomic applications of NBS, parents voiced concerns about privacy and control over test results. Limited trust in the medical system and the state-run NBS program informed these concerns.ConclusionsExpanded NBS with WGS for pediatricians may require management of more genetic conditions, including mutations that convey risk to both the child and parents for adult-onset disorders, and an informed-consent process to manage the genomic data and storage of blood spots. Attention to how these technologies are understood in diverse populations is needed for effective implementation.

MotivationHigh-throughput sequencing technologies have impacted many areas of genetic research. One such area is the identification of relatives from genetic data. The standard approach for the identification of genetic relatives collects the genomic data of all individuals and stores it in a database. Then, each pair of individuals is compared to detect the set of genetic relatives, and the matched individuals are informed. The main drawback of this approach is the requirement of sharing your genetic data with a trusted third party to perform the relatedness test.ResultsIn this work, we propose a secure protocol to detect the genetic relatives from sequencing data while not exposing any information about their genomes. We assume that individuals have access to their genome sequences but do not want to share their genomes with anyone else. Unlike previous approaches, our approach uses both common and rare variants which provide the ability to detect much more distant relationships securely. We use a simulated data generated from the 1000 genomes data and illustrate that we can easily detect up to fifth degree cousins which was not possible using the existing methods. We also show in the 1000 genomes data with cryptic relationships that our method can detect these individuals.AvailabilityThe software is freely available for download at http://genetics.cs.ucla.edu/crypto/.

The development of high-throughput genomic technologies has impacted many areas of genetic research. While many applications of these technologies focus on the discovery of genes involved in disease from population samples, applications of genomic technologies to an individual's genome or personal genomics have recently gained much interest. One such application is the identification of relatives from genetic data. In this application, genetic information from a set of individuals is collected in a database, and each pair of individuals is compared in order to identify genetic relatives. An inherent issue that arises in the identification of relatives is privacy. In this article, we propose a method for identifying genetic relatives without compromising privacy by taking advantage of novel cryptographic techniques customized for secure and private comparison of genetic information. We demonstrate the utility of these techniques by allowing a pair of individuals to discover whether or not they are related without compromising their genetic information or revealing it to a third party. The idea is that individuals only share enough special-purpose cryptographically protected information with each other to identify whether or not they are relatives, but not enough to expose any information about their genomes. We show in HapMap and 1000 Genomes data that our method can recover first- and second-order genetic relationships and, through simulations, show that our method can identify relationships as distant as third cousins while preserving privacy.

Die Verwendung der DNA-Analyse als gerichtliches Beweismittel im Strafprozess und die anschließende Aufnahme dieser Daten in genetische Datenbanken berühren sowohl das Recht auf Privatsphäre als auch das Recht auf informationelle Selbstbestimmung. In der vorliegenen Arbeit werden die Vorbedingungen untersucht, die diese Praktiken erfüllen sollten, damit die Verletzung dieser Grundrechte als verhältnismässig zu den verfolgten Zwecken angesehen und folglich vom verfassungsrechtlichen Standpunkt aus als legitim betrachtet werden kann., The use of DNA analysis as expert evidence in a criminal trial and the later incorporation of this information into genetic databases affect both the right to privacy and the right to informational self-determination. In the present work the requirements that these practices must have so that the violation of these fundamental rights is considered proportional to the purposes being pursued and, therefore, legitimate from the constitutional point of view, will be analyzed., La utilización de análisis de ADN como prueba pericial en el proceso penal y la posterior incorporación de esta información en bases de datos genéticas afectan tanto al derecho a la intimidad como al derecho a la autodeterminación informativa. En el presente trabajo se analizarán los requisitos que deberán reunir estas prácticas para que la conculcación de estos derechos fundamentales sea considerada proporcionada a los fines perseguidos y, por tanto, legítima desde un punto de vista constitucional.

Genetic information is information about a person’s genes. That is to say, it is information about the biological material, not the biological material itself.[ Unfortunately, access to genetic information about a person on the part of other people or institutions may affect that person negatively. First, genetic information is relevant to a person’s health now and in the future, which means that a person with a genetic condition has reason to fear that he will meet with negative reactions from employers, insurance companies, the government, and others. Second, if, as seems to be the case, genetic information is also relevant to a person’s behavior, we have reason to fear that criminals with a genetic condition may be acquitted on the ground that they were thought not to be responsible for what they had done, and that individuals with a genetic make-up that would likely make them criminals will be rounded up and treated before they have committed any crime. Third, it is likely that the result of one person’s genetic test will be of interest to other people (his siblings, for example), and that therefore there will be disputes about who is entitled to know the results of the test. The question I want to consider in this article is whether the idea of a right to genetic privacy can be a useful analytical tool in the analysis of moral or legal problems that concern genetic information. For example, is an employer or an insurance company or a researcher who gains access to genetic information about a person from a DNA data bank guilty of violating his right to privacy? Is an employer who requires that his employees undergo genetic testing guilty of violating their right to privacy? Does a law that interferes with a person’s decision-making regarding personal, genetic issues violate his right to privacy? Etc. Some authors seem to think so, arguing as they do that our access to genetic information about other people ought to be circumscribed with the help of specific gene

Translational research is frequently used in the bioscience literature to refer to the translation of basic science into practical applications at the point of patient care. With the introduction of theragnostics, a new medical subspecialty that fuses therapeutics and diagnostic medicine with the goal of providing individualized pharmacotherapy, we suggest that the focus of translational research is shifting. We identify two bottlenecks or gaps in translational research for theragnostics: GAP1 translation from basic science to first-in-human proof-of-concept; and GAP2 translation from clinical proof-of-concept to development of evidence-based personalized treatment guidelines. GAP1 translational research in theragnostics is usually performed in traditional craft-based studies with small sample sizes and led by independent academic or industry researchers. In contrast, GAP2 translational investigations typically rely on large research consortiums and population-based biobanks that couple biomarker information with longitudinal 'real-life' observational data on a broad range of pharmacological phenotypes. Despite an abundance of research on the use of biobanks in disease gene discovery, there has been little conceptual work on whether and to what extent population biobanks can be utilized for translating genomics discoveries to practical treatment guidelines for theragnostic tests.