Search

The modern concept of 'family' in the United States recognizes many types of social groups as families, a conceptual shift which was largely helped along by advancements in assisted reproductive technologies enabling those formerly unable to biologically reproduce to have children, as well as by social movements aimed at garnering recognition for these emergent nonbiologically related social groups spearheaded by LGBTQ+ and adoption activists. That these social groups are now recognized as types of families is unquestionably an improvement to the concept, though there are still defects in the concept that preclude these nonnuclear families from achieving the same social–ontological status as nuclear families. Drawing from the nascent philosophical field of conceptual engineering, I analyze our current conception of 'family' and argue that it is tacitly exclusionary of nonnuclear families, which can be attributed to a combination of widespread genetic essentialism and linguistic practices that unduly cast the nuclear family as a more desirable type of family by emphasizing genetic relatedness as a valuable quality. I then offer proposals to ameliorate these defects, such as educational interventions to reduce genetic essentialism and the introduction of new terminology that does not connote one type of family as being superior to another. In doing so, my hope is to reveal and begin to resolve an overlooked defect in the concept of 'family' in order to bolster the movement to view all families as equal. [ABSTRACT FROM AUTHOR]

AbstractEthical questions about confidentiality arise when patients refuse to inform relatives who are at risk of a genetic condition. Specifically, healthcare providers may struggle with the permissibility of breaching confidentiality to warn patients’ at-risk relatives. In exploring this issue, several authors have converged around the idea that genetic cases differ from non-genetic cases (e.g., involving a threat of violence or the spread of an infectious disease) along two related dimensions: (1) In genetic cases, the risk of harm is already present in an at-risk third party, whereas in non-genetic cases, it is not; and (2) In genetic cases, the patient does not create a risk of harm to a third party, whereas in non-genetic cases, the patient does. I argue that these distinctions do not exclusively differentiate genetic from non-genetic cases and should not bear on the permissibility of breaching confidentiality. Instead, such determinations should be based on other considerations. [ABSTRACT FROM AUTHOR]

In the legal context of Chinese law, genetic data are an object of complex rights. At the level of private law, genetic data contain personal information, thus being protected by the Civil Code and the Personal Information Protection Law. At the level of public law, genetic data are important genetic resource that embody both public and national interests, which should also be regulated by public laws such as the Biosecurity Law and the Data Security Law. The recently issued Regulation on the Administration of Human Genetic Resources have refined the approval and record procedure, in order to promote the utilization of genetic data in China. At present, China still lacks sufficient protection for genetic data privacy, and the "informed consent" and "anonymization" system cannot work effectively. On the path of improvement, we should break constraints of individualism and start from the following three levels to strengthen genetic data privacy protection: formulating specialized legislation and leveraging the functions of group organizations and public interest litigation systems. [ABSTRACT FROM AUTHOR]

The integration of genetic information (GI) into the electronic health record (EHR) seems inevitable as the mainstreaming of genomics continues. Such newly provided accessibility to GI could be beneficial for improving health care, as well as for supporting clinical decision‐making and health management. Notwithstanding these promising benefits, the automatic integration of GI into the EHR, allowing unrestricted access to one's GI through patient portals, carries various knowledge‐related risks for patients. This article is focused on the potential case of inadvertently revealing misattributed parentage through such practice. The article aims to identify key clinical and ethical implications of such revelation for adult patients. Clinical implications include, for example, altering the physician‐patient interaction and the need to enhance physician's genetic literacy to improve genetic‐information‐specific communication skills. Ethical implications yield arguments supporting disclosure of MP, such as autonomy, individuals' right to know medical information pertaining to them, and the right to know one's genetic origins. Arguments opposing disclosure of MP centre on the right not to know GI and concerns for post‐disclosure family relationships. Following the clinical and ethical analyses of these respective implications, we consider how such integration of GI into the EHR ought to be carried out, ethically. We therefore suggest a solution, featuring an autonomy‐based approach, built around EHR users' right not to know. Our solution of nuanced consent options (including a 'genetic ignorance option') is designed to enable patients' informed exposure to GI through the EHR, allowing them some control over their self‐ and familial narrative. [ABSTRACT FROM AUTHOR]

Forensic genomics now enables law enforcement agencies to undertake rapid and detailed analysis of suspect samples using a technique known as massively parallel sequencing (MPS), including information such as physical traits, biological ancestry, and medical conditions. This article discusses the implications of MPS and provides ethical analysis, drawing on the concept of joint rights applicable to genomic data, and the concept of collective moral responsibility (understood as joint moral responsibility) that are applicable to law enforcement investigations that utilize genomic data. The widespread and unconstrained use of this technology without appropriate legal protections of individual moral rights and associated accountability mechanisms, could potentially not only involve violations of individual moral rights but also lead to an unacceptable shift in the balance of power between governments and the citizenry. We argue that in light of the rights of victims and the security benefits for society, there is a collective moral responsibility for individuals to submit their DNA to law enforcement and for MPS to be used where other, less invasive techniques are not effective. However, this application should be limited by legislation, including that any data obtained should be directly relevant to the investigation and should be destroyed at the conclusion of the investigation. [ABSTRACT FROM AUTHOR]

The paper aims to present a critical analysis of the phenomenon and notion of exceptionalism in bioethics. The authors demonstrate that exceptionalism pertains to phenomena that are not (yet) entirely familiar to us and could potentially bear risks regarding their regulation. After an overview of the state of the art, we briefly describe the origins and evolution of the concept, compared to exception and exclusion. In the second step, they look at the overall development debates on genetic exceptionalism, compared to other bioethical debates on exceptionalism, before presenting a detailed analysis of a specific case of early regulation of genetic screening. In the last part, the authors explain the historical background behind the connection between exceptionalism and exclusion in these debates. Their main conclusion is that while the initial stage of the discussion is shaped by the concept of exceptionalism and awareness of risks of exclusion, the later development centers around exceptions that are needed in detailed regulatory procedures. [ABSTRACT FROM AUTHOR]

This paper addresses the intricate challenges of genetic privacy in criminal investigations, particularly within the Croatian context. Conducted by the Croatian Innocence Project, workshops emphasized key issues like DNA material handling, databasing, and the need for legal framework improvements and further research on this topic. The findings of several cases of the ECtHR underscored the risk of miscarriages of justice when genetic privacy is neglected. The paper explores genetic privacy through three elements: treatment of genetic materials, forensic errors, and DNA databasing. Analyzing European Court of Human Rights cases and trends in the U.K., U.S., and E.U., it provides insights to enhance Croatia's legal framework. The study aims to demonstrate the delicate balance between genetic privacy in handling genetic data and effective criminal prosecutions. [ABSTRACT FROM AUTHOR]

Worldwide, there is increasing acknowledgment of the importance of getting access to ancestry information. More and more countries facilitate access to this information through law changes and voluntary contact-services. In the Netherlands, the state-funded Fiom KID-DNA database was established in 2010 to facilitate information and/or contact exchange between those people who are genetically related as a result of donor-assisted conception. By the end of 2021, 846 donors and 2355 donor-conceived people are registered in the database. For 25% of the donors a link was found with one or more donor-conceived people, and 39% of the donor-conceived people were linked to a donor-profile. Fiom offers support by professionally qualified staff throughout the entire process from registration to contact to donor-conceived people, donors and their relatives. During the period of more than 10 years several challenges emerged; how does a state-funded DNA database function in the area of commercial DNA databases?; what can be learned from the continuous growing donor-conceived half-siblings networks?; how to deal with malpractices from the past and how to cope with ageing donors? [ABSTRACT FROM AUTHOR]

To protect genetic privacy, state legislatures have begun to invoke the language of property rights, declaring the information derived from DNA, and even genetic material itself, the "exclusive property" of its source. A few recent judicial decisions also recognize an individual's property interest in the information derived from genetic material, with one state court denying a motion to dismiss a plaintiff's conversion claim. The use of property rights to protect genetic privacy is due in part to the rise of direct-to-consumer genetic testing (DTC-GT), which has decoupled the receipt of genetic information from medical care, allowing third parties to access and use private genetic information without consent. Notwithstanding their invocation of the language of property rights, however, legislatures and courts are circumspect in their application of property law principles to genetic data. Even those state genetic privacy statutes that designate genetic materials and information as property either lack a private right of action; impose criminal law penalties that establish a high burden of proof; and/or set forth statutory damages that are quite small in comparison with the profits earned by DTC-GT companies. Courts hearing cases regarding the misuse of DTC-GT have denied plaintiffs' requests for class action certification, even as they acknowledge the challenges of determining the appropriate measure of actual damages given that genetic material and information are more valuable in the aggregate than severally. This article offers a perspective on how to enhance state legislation regulating DTC-GT. Part I of this article discusses the rise in the U.S. of DTCGT and its associated risks of privacy loss and discrimination. Part II examines the seminal judicial decisions from two to three decades ago holding that individuals lack property rights in their genetic material and the data derived from it. Part III considers U.S federal laws enacted in the last two decades relating to medical and genetic privacy, which are inadequate to protect consumers from the risks of genetic privacy violations associated with DTC-GT. Part IV explores the increase in state legislation relating to genetic data privacy, with a specific focus on state legislation referring to property rights. Part V analyzes two recent judicial decisions that demonstrate courts' willingness to uphold plaintiffs' rights under statutes that recognize their ownership of their genetic material and/or the information derived from it, even as these courts struggle to establish clear and effective redress of violations. Part VI concludes by suggesting methods to enhance state genetic privacy statutes, which reflect the continuing impact of normative views denying property rights in genetic material and its associated data. [ABSTRACT FROM AUTHOR]

How does concern about genetic data privacy compare with other concerns? We conduct behavioral experiments to compare risk attitudes towards sharing genetic data with a healthcare provider with risk attitudes towards sharing financial data with a money manager. Both scenarios involve identical decisions and monetary stakes, permitting us to focus on how the framing of data sharing influences attitudes. To delve deeper into individual motivations to share data, we provide treatments that study how data sharers' altruism and trust affect their decisions. Our findings (with 162 subjects) indicate that individuals are more willing to risk a loss to privacy of genetic data (for an anticipated return framed as health benefits) than they are to risk loss of financial data (for an anticipated return in financial benefits). We also find that 50%–60% of data recipients choose to protect another person's data, with no significant differences between frames. [ABSTRACT FROM AUTHOR]

Emerged in the early 2000s, direct-to-consumer (DTC) genetic testing has helped consumers access and understand their genetic information without the involvement of a healthcare provider. Unlike traditional clinical-based testing, in which a healthcare provider is responsible for ordering, testing, interpreting, and communicating the results, DTC testing provides valuable insights directly to individuals about their genetic information. It empowers consumers and their families to be proactive about their health and lifestyle. The online testing format has become increasingly popular due to its accessibility and affordability. However, it raises concerns about the accuracy and reliability of the results, data security and how to ensure privacy for consumers and regulators. A hybrid model combining elements from both DTC and clinical-based genetic testing has surfaced in the market recently. In the US, current health-related DTC genetic tests are not recognized for diagnostic purposes; instead, these tests are intended to provide genetic information that is associated with certain conditions, which may encourage consumers to take the opportunity to discuss the results and their implications with a healthcare provider. This DTC genetic testing review focuses on the fundamental concepts, applications, benefits, limitations, risks, and consumer concerns, as well as the state of the DTC framework compared with the clinical-based and hybrid models. Additionally, the regulatory oversight, data protection, and healthcare professional perspective on DTC genetic testing in the US will be discussed, including current policies and regulations. [ABSTRACT FROM AUTHOR]

Applications of generative models for genomic data have gained significant momentum in the past few years, with scopes ranging from data characterization to generation of genomic segments and functional sequences. In our previous study, we demonstrated that generative adversarial networks (GANs) and restricted Boltzmann machines (RBMs) can be used to create novel high-quality artificial genomes (AGs) which can preserve the complex characteristics of real genomes such as population structure, linkage disequilibrium and selection signals. However, a major drawback of these models is scalability, since the large feature space of genome-wide data increases computational complexity vastly. To address this issue, we implemented a novel convolutional Wasserstein GAN (WGAN) model along with a novel conditional RBM (CRBM) framework for generating AGs with high SNP number. These networks implicitly learn the varying landscape of haplotypic structure in order to capture complex correlation patterns along the genome and generate a wide diversity of plausible haplotypes. We performed comparative analyses to assess both the quality of these generated haplotypes and the amount of possible privacy leakage from the training data. As the importance of genetic privacy becomes more prevalent, the need for effective privacy protection measures for genomic data increases. We used generative neural networks to create large artificial genome segments which possess many characteristics of real genomes without substantial privacy leakage from the training dataset. In the near future, with further improvements in haplotype quality and privacy preservation, large-scale artificial genome databases can be assembled to provide easily accessible surrogates of real databases, allowing researchers to conduct studies with diverse genomic data within a safe ethical framework in terms of donor privacy. Author summary: Generative modelling has recently become a prominent research field in genomics, with applications ranging from functional sequence design to characterization of population structure. We previously used generative neural networks to create artificial genome segments which possess many characteristics of real genomes but these segments were short in size due to computational requirements. In this work, we present novel generative models for generating artificial genomes with larger sequence size. We test the generated artificial genomes with multiple summary statistics to assess the haplotype quality, overfitting and privacy leakage from the training dataset. Our findings suggest that although there is still room for improvement both in terms of genome quality and privacy preservation, convolutional architectures and conditional generation can be utilised for generating good quality, large-scale genomic data. In the near future with additional improvements, large-scale artificial genomes can be used for assembling surrogate biobanks as alternatives to real biobanks with access restrictions, increasing data accessibility to researchers around the globe. [ABSTRACT FROM AUTHOR]

The safeguarding of genetic information is essential, particularly within the domain of sports genetics testing. This research delves into the nuanced definition of genetic privacy under the backdrop of genetic testing in sports. While many scholars regard genetic information as an inherent component of the right to privacy, it is crucial to recognize that not all genetic information falls squarely within the realm of privacy. Due to the distinctive nature of genetic data, only specific segments can be considered under the umbrella of privacy rights. Additionally, genetic information that pertains to family or group dynamics transcends the boundaries of individual privacy rights. In cases where genetic information is shared among multiple parties, the owners do not possess unilateral control over these shared genetic segments. As a novel facet of privacy rights, gene privacy introduces unique dimensions that differ from conventional privacy rights. It encompasses the fifth right--the right not to know specific genetic information. To establish a robust framework for judicial protection of genetic privacy, it is imperative to undertake comprehensive research on the right to genetic information privacy. Such research forms the bedrock upon which a scientifically informed path to judicial protection of genetic privacy in the sports context can be developed [ABSTRACT FROM AUTHOR]

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.

Background: In Australia, national policy prioritises the integration of clinical genetic data with networked electronic medical records (EMRs) for enhanced coordination of care and clinical decision-making. Objective: To examine the needs, privacy expectations and concerns of patients, family members, patient advocates and clinicians in relation to the use of networked EMRs for clinical genetic information. Method: Purposive sampling was used to recruit 27 participants for a semi-structured qualitative interview, primarily over Zoom. The interviews were audio and video-recorded and externally transcribed. Interview transcripts were then coded and analysed in NVivo, using an inductive thematic approach. Results: Thematic analysis revealed diverse preferences regarding genetic information access and handling across participants, with five core themes being identified: degree of access and control; central role of genetic professionals as information gatekeepers; complexities of familial implications; external risks; and law, governance and policy; all strong themes that emerged across numerous participants. Conclusion: This project yielded unprecedented and significant insights into the views, needs and concerns of key stakeholders in Australia regarding the inclusion of health-related genetic test results in networked EMRs. Implications: These findings provide a critical reference point for much-needed law reform and policy-making around genetic test results in Australia. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

The document titled "JUVENILE GENETIC PRIVACY IN NEW YORK: DNA COLLECTION AND MAINTENANCE POST-FRANCIS O." was published in the Cardozo Journal of Equal Rights & Social Justice in September 2023. [Extracted from the article]

There is an increasing demand for the return of raw genomic data by research participants in translational genomic research. This article discusses the scope and application of privacy and freedom of information legislative provisions in Australia. Whether there is a right to access a copy of such data under Australian privacy legislation is contingent on whether raw genomic data can identify an individual and this article explores the opportunities for genomic data to be linked to individuals. We conclude that despite the complexity and overlapping nature of privacy laws in Australia, there is a clear right on the part of research participants to access their raw genomic data. [ABSTRACT FROM AUTHOR]

In recent decades, special attention has been given to the privacy and discrimination risks associated with genetic information. Federal, state, and international laws all contain specific protections for the use of genetic information in a variety of contexts, including insurance and employment. Yet the very considerations motivating special protections for genetic information extend beyond mere genetics. Epigenetics involves the study of heritable changes in gene function that do not involve changes in the DNA sequence. Epigenetic data shares a number of normative similarities and policy concerns with genetic data, and in some ways, presents an even greater privacy and nondiscrimination risk than genetic data. However, epigenetic information remains unprotected by existing genetic privacy and nondiscrimination laws, which are based on an outdated conception of health and disease, focused narrowly on genes and genetic information. This Note argues that epigenetic information warrants the same protections as genetic information and calls for an amendment of existing genetic privacy and nondiscrimination laws to broaden the definitions of the data at stake to encompass epigenetic and other postgenomic information. [ABSTRACT FROM AUTHOR]

BACKGROUND: The use of direct-to-consumer genomic testing (DTCGT) is increasing, but this testing may not be comprehensive and may lack clinical validity and utility. The ethical constructs of beneficence, nonmaleficence, justice, and autonomy provide a framework for coordinating the care of patients and their families. OBJECTIVES: This article provides an overview of the DTCGT process and reviews the ethical implications that affect clinical care. METHODS: A review of the literature was conducted using the following key words: genetics/ genomics and direct-to-consumer testing. Common themes were identified, including test types, regulatory standards, marketing practices, ethics, privacy, and nursing implications. FINDINGS: An increased awareness of the clinical and ethical consequences of DTCGT is needed among healthcare providers and the general population. Oncology nurses can assist patients in navigating the field of genomics through consistent and comprehensive risk assessment, patient education about the risks and benefits of DTCGT, and referral to genomics professionals when appropriate. [ABSTRACT FROM AUTHOR]

BackgroundPrivacy-related concerns can prevent equitable participation in health research by US Indigenous communities. However, studies focused on these communities' views regarding health data privacy, including systematic reviews, are lacking.MethodsWe conducted a systematic literature review analyzing empirical, US-based studies involving American Indian/Alaska Native (AI/AN) and Native Hawaiian or other Pacific Islander (NHPI) perspectives on health data privacy, which we define as the practice of maintaining the security and confidentiality of an individual's personal health records and/or biological samples (including data derived from biological specimens, such as personal genetic information), as well as the secure and approved use of those data.ResultsTwenty-one studies involving 3234 AI/AN and NHPI participants were eligible for review. The results of this review suggest that concerns about the privacy of health data are both prevalent and complex in AI/AN and NHPI communities. Many respondents raised concerns about the potential for misuse of their health data, including discrimination or stigma, confidentiality breaches, and undesirable or unknown uses of biological specimens.ConclusionsParticipants cited a variety of individual and community-level concerns about the privacy of their health data, and indicated that these deter their willingness to participate in health research. Future investigations should explore in more depth which health data privacy concerns are most salient to specific AI/AN and NHPI communities, and identify the practices that will make the collection and use of health data more trustworthy and transparent for participants.

Numerous studies over the last decade have demonstrated the utility of machine learning methods when applied to population genetic tasks. More recent studies show the potential of deep-learning methods in particular, which allow researchers to approach problems without making prior assumptions about how the data should be summarized or manipulated, instead learning their own internal representation of the data in an attempt to maximize inferential accuracy. One type of deep neural network, called Generative Adversarial Networks (GANs), can even be used to generate new data, and this approach has been used to create individual artificial human genomes free from privacy concerns. In this study, we further explore the application of GANs in population genetics by designing and training a network to learn the statistical distribution of population genetic alignments (i.e. data sets consisting of sequences from an entire population sample) under several diverse evolutionary histories--the first GAN capable of performing this task. After testing multiple different neural network architectures, we report the results of a fully differentiable Deep-Convolutional Wasserstein GAN with gradient penalty that is capable of generating artificial examples of population genetic alignments that successfully mimic key aspects of the training data, including the site-frequency spectrum, differentiation between populations, and patterns of linkage disequilibrium. We demonstrate consistent training success across various evolutionary models, including models of panmictic and subdivided populations, populations at equilibrium and experiencing changes in size, and populations experiencing either no selection or positive selection of various strengths, all without the need for extensive hyperparameter tuning. Overall, our findings highlight the ability of GANs to learn and mimic population genetic data and suggest future areas where this work can be applied in population genetics research that we discuss herein. [ABSTRACT FROM AUTHOR]

This article explores the privacy implications of the changing status of genomic data and the consequences for genomic data-sharing. It sets out the theoretical framework for privacy protection in Australia and the centrality of the concept of "personal information" -- information from which an individual is "reasonably identifiable". It examines the applicability of this legal framework to genomic data and the challenge from the ever-growing risk of identifiability of such data and implications for research participation and researchers' willingness to share genomic data. The article critiques the binary approach underpinning Australian privacy law based on whether data are "identified" or "de-identified" and highlights the difficulty of applying this distinction to genomic data given their changing status over time. It concludes by examining necessary reforms to provide individuals with more effective privacy protection over their genomic data and which would support data-sharing for genomic research. [ABSTRACT FROM AUTHOR]

Background: Hereditary breast and ovarian cancer and Lynch syndrome are associated with increased lifetime risk for common cancers. Offering cascade genetic testing to cancer-free relatives of individuals with HBOC or LS is a public health intervention for cancer prevention. Yet, little is known about the utility and value of information gained from cascade testing. This paper discusses ELSI encountered during the implementation of cascade testing in three countries with national healthcare systems: Switzerland, Korea, and Israel. Methods: A workshop presented at the 5th International ELSI Congress discussed implementation of cascade testing in the three countries based on exchange of data and experiences from the international CASCADE cohort. Results: Analyses focused on models of accessing genetic services (clinicbased versus population-based screening), and models of initiating cascade testing (patient-mediated dissemination versus provider-mediated dissemination of testing results to relatives). The legal framework of each country, organization of the healthcare system, and socio-cultural norms determined the utility and value of genetic information gained from cascade testing. Conclusion: The juxtaposition of individual versus public health interests generates significant ELSI controversies associated with cascade testing, which compromise access to genetic services and the utility and value of genetic information, despite national healthcare/universal coverage. [ABSTRACT FROM AUTHOR]

As biobanks become increasingly popular, access to genotypic and phenotypic data continues to increase in the form of precomputed summary statistics (PCSS). Widespread accessibility of PCSS alleviates many issues related to biobank data, including that of data privacy and confidentiality, as well as high computational costs. However, questions remain about how to maximally leverage PCSS for downstream statistical analyses. Here we present a novel method for testing the association of an arbitrary number of single nucleotide variants (SNVs) on a linear combination of phenotypes after adjusting for covariates for common multimarker tests (e.g., SKAT, SKAT‐O) without access to individual patient‐level data (IPD). We validate exact formulas for each method, and demonstrate their accuracy through simulation studies and an application to fatty acid phenotypic data from the Framingham Heart Study. [ABSTRACT FROM AUTHOR]

Genetic information is intimate and telling data warranting privacy in public and private realms. The privacy protections offered in the United States and Canada vastly differ when it comes to genetic privacy. Search and seizure law mirrors the privacy gap in the countries, as well as their treatment of DNA database information. [ABSTRACT FROM AUTHOR]

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.

Biological samples containing DNA that is attributed to deceased relatives, can now undergo genetic testing at a reasonable cost due to revolutionary improvements in sampling, sequencing, and analytical techniques. This artifact DNA testing, or 'artDNA', includes genetic analysis of hair locks, stamps, envelopes with saliva traces or teeth. ArtDNA can reveal valuable information about a deceased relative or one's genetic background, but it also presents novel ethical dilemmas and legal uncertainties for genetic researchers and commercial testing services. In this paper, we provide an analysis of some of the unique ethical and legal risks of such testing and provide needed recommendations for practitioners of private family artDNA testing. ArtDNA testing generates ethical and legal risks regarding the privacy and autonomy of deceased individuals, the rights of living relatives over their ancestor's genetic information, and the rights of living persons to control their own genetic information. To mitigate these risks, practitioners can conduct certain preliminary testing to ascertain the identity of a DNA donor and estimate the time that has elapsed postmortem. Generally, the ethical and legal concerns will be higher when a shorter period has passed between the death of the DNA donor and the time of artifact DNA testing. Regardless, all artDNA testing present some risks, and practitioners should exercise professional judgement as necessary. [ABSTRACT FROM AUTHOR]

A personal narrative is presented which explores the author's experience of dealing with a 50 percent risk of developing cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), an inherited genetic condition with no known treatment.

Objectives: As genetic testing is increasingly used in non-medical fields, the judgment of people's potential conditions based on predictive genetic information inevitably causes genetic discrimination (henceforth GD). This article aimed to systematically investigate the disparity in attitudes and worrying scenarios concerning GD in China. Methods: A questionnaire survey of 555 respondents was conducted. Statistical tests were used to examine disparity in attitudes between gender, age, and education. A descriptive analysis was also conducted to explore other worrying scenarios. Results: It shows that (1) men are more tolerant of GD compared to women, and (2) participants aged between 18 and 30 years old possess the highest objection to GD. However, (3) no indication can attest to the relationship between educational level and perspective on GD. In addition, (4) the acceptance of gene testing in the three most common scenarios is ranked in descending order as follows: partner choice, insurance services, and recruitment. Moreover, (5) worrying scenarios relating to GD include: education, social occasions, medical services, fertility, shopping, and so on. Conclusions: Based on the results, suggestions proposed include developing a blacklist mechanism in the field of genetic data application and strengthening the security regulations for the commercial use of genetic data. [ABSTRACT FROM AUTHOR]

Copyright of Revista de Derecho y Genoma Humano is the property of Dykinson SL and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The article focuses on the perceived value of genetic information and the psychological motives that drive people to seek out genetic screening. Topics include the distinction between perceived utility and personal utility of genetic screening, the role of curiosity and the desire to resolve uncertainty in seeking information, and the ethical implications of framing the perceived value of genetic information.

I Understanding DNA Ancestry i is his latest book, in which many of the topics he studied are integrated and illustrated using the example of DNA ancestry. What DNA ancestry testing can and cannot tell us: Sheldon Krimksy: Understanding DNA ancestry. However, while reading, I was pleasantly surprised, and even mesmerized, by the way the author presented the different aspects of DNA ancestry testing. [Extracted from the article]

Background Estimation of genetic relatedness, or kinship, is used occasionally for recreational purposes and in forensic applications. While numerous methods were developed to estimate kinship, they suffer from high computational requirements and often make an untenable assumption of homogeneous population ancestry of the samples. Moreover, genetic privacy is generally overlooked in the usage of kinship estimation methods. There can be ethical concerns about finding unknown familial relationships in third-party databases. Similar ethical concerns may arise while estimating and reporting sensitive population-level statistics such as inbreeding coefficients for the concerns around marginalization and stigmatization. Results Here, we present SIGFRIED, which makes use of existing reference panels with a projection-based approach that simplifies kinship estimation in the admixed populations. We use simulated and real datasets to demonstrate the accuracy and efficiency of kinship estimation. We present a secure federated kinship estimation framework and implement a secure kinship estimator using homomorphic encryption-based primitives for computing relatedness between samples in two different sites while genotype data are kept confidential. Source code and documentation for our methods can be found at https://doi.org/10.5281/zenodo.7053352. Conclusions Analysis of relatedness is fundamentally important for identifying relatives, in association studies, and for estimation of population-level estimates of inbreeding. As the awareness of individual and group genomic privacy is growing, privacy-preserving methods for the estimation of relatedness are needed. Presented methods alleviate the ethical and privacy concerns in the analysis of relatedness in admixed, historically isolated and underrepresented populations. Short Abstract Genetic relatedness is a central quantity used for finding relatives in databases, correcting biases in genome wide association studies and for estimating population-level statistics. Methods for estimating genetic relatedness have high computational requirements, and occasionally do not consider individuals from admixed ancestries. Furthermore, the ethical concerns around using genetic data and calculating relatedness are not considered. We present a projection-based approach that can efficiently and accurately estimate kinship. We implement our method using encryption-based techniques that provide provable security guarantees to protect genetic data while kinship statistics are computed among multiple sites. [ABSTRACT FROM AUTHOR]

In the context of life sciences, the rapid biotechnical development leads to the creation of huge amounts of biological data. The use of such data naturally brings concerns on human genetic privacy breaches, which also discourage biological data sharing. Prior studies have investigated the possibility of the privacy issues associated with individuals' trait data. However, there are few studies on quantitatively analyzing the probability of the privacy risk. In this paper, we fill this void by proposing a scheme for systematically breaching genomic privacy, which is centered on quantifying the probability of the privacy risk of continuous trait data. With well-designed synthetic datasets, our theoretical analysis and experiments lead to several important findings, such as: (i) The size of genetic signatures and the sensitivity (true positive rate) significantly affect the accuracy of re-identification attack. (ii) Both the size of genetic signatures and the minor allele frequency have a significant impact on distinguishing true positive and false positive matching between traits and genetic profiles. (iii) The size of the matching quantitative trait locus dataset has a large impact on the confidence of the privacy risk assessment. Validation with a real dataset shows that our findings can effectively estimate the privacy risks of the continuous trait dataset. [ABSTRACT FROM AUTHOR]

Background: Sequencing of thousands of samples provides genetic variants with allele frequencies spanning a very large spectrum and gives invaluable insight into genetic determinants of diseases. Protecting the genetic privacy of participants is challenging as only a few rare variants can easily re-identify an individual among millions. In certain cases, there are policy barriers against sharing genetic data from indigenous populations and stigmatizing conditions. Results: We present SVAT, a method for secure outsourcing of variant annotation and aggregation, which are two basic steps in variant interpretation and detection of causal variants. SVAT uses homomorphic encryption to encrypt the data at the client-side. The data always stays encrypted while it is stored, in-transit, and most importantly while it is analyzed. SVAT makes use of a vectorized data representation to convert annotation and aggregation into efficient vectorized operations in a single framework. Also, SVAT utilizes a secure re-encryption approach so that multiple disparate genotype datasets can be combined for federated aggregation and secure computation of allele frequencies on the aggregated dataset. Conclusions: Overall, SVAT provides a secure, flexible, and practical framework for privacy-aware outsourcing of annotation, filtering, and aggregation of genetic variants. SVAT is publicly available for download from https://github.com/harmancilab/SVAT. [ABSTRACT FROM AUTHOR]

In the context of heavy investments in life sciences, one consequence of rapid biotechnical developments is the generation of very large amounts of biological data that not only support bioinformatics research used in medical and health services by data analysis but also cause genetic privacy breaches for the data originators, limiting biomedical data sharing. However, the original intention of medical informatization is to improve medical efficiency and break the information barriers between medical institutions, which is also limited by genetic privacy risks from growing bioinformatics data. To share biomedical data correlated with genes usefully under the premise of ensuring genetic privacy, with the concept of medical reference interval, we design a query strategy based on a flexible differential privacy algorithm that setting weights for noise added according to the purpose of the inquirer. We generate a series of biomedical data to test the effectiveness of our query system, the test results show that our algorithm ensures data's utility with acceptable privacy breaches that addresses the problem of biomedical data sharing to a certain extent. [ABSTRACT FROM AUTHOR]

The Genetic Information Nondiscrimination Act (GINA) was enacted to prevent discrimination based on an employee's genetic information. Although GINA undoubtedly provides employees protection from unjust genetic discrimination by employers, varying interpretations of what constitutes "genetic information" has raised legal uncertainties in how GINA is applied. Consequently, the genetic information of an employee's family may be unduly placed at risk as a result of misinterpreting the statutory language and legislative intent of GINA. It is of the utmost importance that the definition of "genetic information" be construed with respect to the Act's legislative history, which supports a broad interpretation and application of the term "genetic information." By improperly narrowing the scope of what constitutes "genetic information," the genetic privacy of an employee's family is unnecessarily jeopardized. Furthermore, employers are offered a safe harbor when committing discriminatory acts based on genetic information that are difficult, if not impossible, to prove. [ABSTRACT FROM AUTHOR]

DNA databases have significant commercial value. Direct-to-consumer genetic testing companies have built databanks using samples and information voluntarily provided by customers. As the price of genetic analysis falls, there is growing interest in building such databases by paying individuals for their DNA and personal data. This paper maps the ethical issues associated with private companies paying for DNA. We outline the benefits of building better genomic databases and describe possible concerns about crowding out, undue inducement, exploitation, and commodification. While certain objections deserve more empirical and philosophical investigation, we argue that none currently provide decisive reasons against using financial incentives to secure DNA samples. [ABSTRACT FROM AUTHOR]

Genetic exceptionalism refers to a concept that genetic information is distinct from other health data and therefore should have additional safety guards in place. The objective of this study was to establish perceptions of pharmacogenetic (PGx) exceptionalism and genetic information privacy and management within the electronic health record (EHR) from individuals who attended a PGx‐focused conference. A 47‐question survey was distributed to 370 attendees at a PGx conference in September 2020. The survey assessed demographics, professional characteristics, perceptions of PGx exceptionalism, knowledge of genetic laws and regulations, and EHR management of PGx information. Of the 370 participants invited to take the survey, 30% (n = 110) responded. Most respondents were pharmacists with postgraduate training (76.2%, n = 48). When asked whether PGx information was exceptional, 44% of respondents agreed while 32% disagreed. Agreement with PGx exceptionalism was associated most with respondents' lack of familiarity or knowledge with PGx. Over two‐thirds (67%) felt that all members of the healthcare team should be able to access their patients' PGx information without restriction in the EHR. This study identified a lack of unanimity in the perception of PGx exceptionalism and the management of PGx information within the EHR across attendees of a PGx conference. Describing the perception of accessibility of PGx information within the EHR is important to ascertain for designing privacy‐related technology, institutional management policies, and legal regulations as this area in genetics is increasingly being implemented into clinical care and clinical standards of care need to be established. [ABSTRACT FROM AUTHOR]

In result of adopting the Regulation (EU) 2016/679 of the European Parliament and of the Council, the catalog of sensitive data has been broadened by genetic data. In such a way is has been demonstrated that genetic data are one of autonomous subcategory of sensitive data. Although the Regulation contains a legal definition of genetic data, it does not provide special rules related to protection of genetic data. Member states are however allowed to maintain or introduce further conditions, including limitations, with regard to the processing of genetic data, biometric data or data concerning. Adoption these conditions in turn implies a necessity to determine a scope of protection of genetic data in order to comply with the principles relating to processing of personal data. [ABSTRACT FROM AUTHOR]