Genetic Privacy Research Articles

Genomic Insights into Drug Abuse: The Role of DNA and Protein-Coding Regions in Addiction and Genetic Mutation

Abstract This paper explores the genetic and epigenetic impacts of drug abuse, focusing on how chronic drug use can induce mutations in DNA, particularly within protein-coding regions, and alter gene expression through mechanisms such as DNA methylation. The study highlights the significant role of these genetic changes in the brain's reward pathways, which contribute to the development and persistence of addiction. Through a comprehensive literature review, the paper identifies key genetic factors associated with addiction susceptibility and the long-term effects of drug-induced epigenetic modifications. A proposed research framework is presented, emphasizing the need for longitudinal studies to track epigenetic changes over time, targeted genomic analysis to identify critical mutations, and the integration of multi-omics approaches to provide a holistic understanding of drug abuse's impact on the genome. The paper also addresses ethical considerations, including the importance of protecting genetic privacy and preventing stigmatization based on genetic findings. The study concludes that advancing our understanding of the genetic and epigenetic mechanisms underlying addiction can lead to more effective, personalized treatment strategies and inform public health policies aimed at mitigating the effects of drug abuse.

On Accountability: Genetic Tools for Justice and Injustice in Criminal Proceedings

Analysis of DNA found at crime scenes has made headlines when used to solve serial killer cold cases. The DNA Identification Act of 1994 approved the Combined DNA Index System (CODIS), a database that stores profiles of 20 genetic markers for forensic investigations. The CODIS markers were specifically chosen because they were thought to be unlinkable to personally identifiable individual traits. However, advances in genetics research have expanded the traits associated with CODIS markers and increased the tools and applications of forensic genetics, thus further increasing the information investigators could gain from a suspected person’s CODIS profile. This is also true regarding private companies, who may analyze genetic information beyond that included in a CODIS profile. These scientific developments may lead to infringements on genetic privacy rights. Additionally, in 2013, the US Supreme Court held in Maryland v King that people who have been arrested, even if they are acquitted or never indicted, can be added to CODIS databases. Due to racial biases in policing and arrests, this has led to inequity in who is represented in CODIS databases, specifically an over-representation of Black individuals’ genetic profiles. Therefore, the use of genetic tools in criminal proceedings, including but not only from CODIS databases, pose risks to privacy and also serve as a seemingly race-neutral tool that, in practice, promotes racial inequity. We suggest implementation of state-specific research and oversight boards with three charges focused on CODIS and investigations using genetic tools employed by private companies: (1) study uses of genetic tools in criminal investigations; (2) study the impact of genetic tools in criminal proceedings and interface with stakeholders and the general public; and (3) use knowledge from (1) and (2) to inform policy recommendations, for which we make several initial suggestions. These boards will provide accountability to increase accuracy, privacy, and equity when using genetic tools in criminal proceedings.

The Role of Genetics in Neurological Disorders: From Rare Diseases to Common Conditions

Neurological disorders result from neurological diseases affecting the brain, spinal cord and peripheral nerves and include rare genetic diseases like Huntington’s disease and spinal muscular atrophy, as well as common diseases such as Alzheimer’s, Parkinson’s disease and epilepsy. These conditions are strongly influenced by genetics, and genetics contribute to the onset, the progression of the disease, the severity of symptoms and treatment responsiveness. Genetics is relevant not only to inheritance, but also to de novo mutations, polygenic risk factors and gene environment interactions that contribute to the clinical phenotype of these disorders. Although the many mutations and heredity patterns of neurological conditions have not been worked out completely, genetic research has come a long way to help us learn more about these conditions. Single gene mutations are invaluable particularly for rare disorders for early diagnosis and targeted interventions. For instance, predictive gene testing such as checking for the HTT gene mutation linked to Huntington's disease allows people to learn if they are at risk of the disease early on — before their symptoms develop. On the other hand, most common neurological disorders involve genetic landscapes much more complicated, with small increases in risk due to more than one gene. Since epigenetic factors and certain environmental factors can further influence these risks, prevention is always in order. For example, people with APOE ε4 allele are more likely to develop Alzheimer’s disease but lifestyle factors such as dietary and exercise may reduce this risk. Such complexity emphasizes the necessity for complete studies, including genome wide association studies (GWAS), epigenetics, and transcriptomics to define molecular mechanisms of these multifactorial disorders. Genetic testing has recently become one of the most important tools in neurology, allowing us to make early diagnosis with great precision and to offer a comprehensive and personalized treatment plan, based on patients' genetic profile. For instance, these genetic mutations can help physicians choose the best medicines for patients with epilepsy. Gene based therapies, including gene replacement, antisense oligonucleotides (ASOs), and gene editing (e.g., CRISPR-Cas9) are newly emerging as potential treatments for human disease and as a therapeutic for spinal muscular atrophy and Duchenne muscular dystrophy. Indeed, as these therapies become more common, these must be addressed as ethical concerns, such as issues of genetic privacy, risk of genetic discrimination, and unintended consequences of genetic manipulation. The focus of this review is to give a brief but detailed account of the genetic components of neurological disorders, ranging from rare monogenic diseases to common multifactorial disorders. It describes key genetic discoveries and discusses developing genetic diagnostic and therapeutic strategies and the ethical implications related to these developments. The integration of genetic insights directly into clinical practice has the potential to provide a personal roadmap that could lead to individualizing the diagnostic, treatment and prevention approaches for neurological disorders and enhance patient outcomes.

The Legal Status and Improvement Path of Human Genetic Data in Gene Therapy in China.

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.

Critical examination of ethical dimensions in prenatal and neonatal screening

Increasingly technologized face of reproductive medicine, in which artificial reproductive technology is thriving, and whole genome sequencing is accessible, faces a plethora of new ethical issues. Prenatal tests raise concerns about selective abortions, eugenics and privacy of genetic information, as well as equity and access, while neonatal screening programs are faced with issues concerning the diseases and conditions they cover, disclosure of carrier status and involvement of employers and insurance companies. Even if more and more conditions are identified through genetic screening and testing, many of them have no treatment and diagnosing such a disease has no apparent benefits. False positive results and the incidental discovery of other health issues during genetic testing can cause parental distress and lack of trust in the medical system. Education programs addressed to medical professionals and the public are needed regarding the benefits and the limits of genetic testing and screening.

Attitudes, knowledge, and risk perceptions of patients who received elective genomic testing as a clinical service

PurposeElective genomic testing (EGT) is increasingly available clinically. Limited real-world evidence exists about attitudes and knowledge of EGT recipients. MethodsAfter web-based education, patients who enrolled in an EGT program at a rural nonprofit health care system completed a survey that assessed attitudes, knowledge, and risk perceptions. ResultsFrom August 2020 to April 2022, 5920 patients completed the survey and received testing. Patients most frequently cited interest in learning their personal disease risks as their primary motivation. Patients most often expected results to guide medication management (74.0%), prevent future disease (70.4%), and provide information about risks to offspring (65.4%). Patients were “very concerned” most frequently about the privacy of genetic information (19.8%) and how well testing predicted disease risks (18.0%). On average, patients answered 6.7 of 11 knowledge items correctly (61.3%). They more often rated their risks for colon and breast cancers as lower rather than higher than the average person but more often rated their risk for a heart attack as higher rather than lower than the average person (all P < .001). ConclusionPatients pursued EGT because of the utility expectations but often misunderstood the test’s capabilities.

Discrimination Based on Genetic Information in South Asia: An Exploratory Study of Constitutions and Relevant Laws

Abstract The progress in precision medicine has resulted in genomic technology spreading worldwide. This has raised concerns about the ethics of genetic data sharing and privacy. This article focuses on South Asia and first aims to identify, analyze, and understand the laws, regulations, and policies related to genetic data privacy and discrimination in that region. This is accomplished through a qualitative examination of existing laws and policies on privacy rights and a doctrinal analysis of legislation gathered from seven jurisdictions, viz. Bangladesh, Bhutan, India, the Maldives, Nepal, Pakistan, and Sri Lanka. Following the presentation of the country-specific study, the article turns to discussing the study's results, which suggest that the area lacks both national norms and a regional policy specific to the protection of personal genetic data. The article then offers possible reasons for this outcome and suggests that the countries must formulate culturally sensitive regulations and universally applicable legal principles for genetic privacy notwithstanding the existing challenges of poverty, non-uniform demographics, and an absence of political will.

Ethics and Best Practices of Studying Contemporary Human Populations

At the 2021 meeting of the American Association of Biological Anthropologists, the “Ethics and Best Practices of Studying Contemporary Human Populations” symposium brought together a diverse panel of scientists to address the growing concerns related to consent, communication, and ethical practices in biological anthropology research. Drawing from historical parallels and current practices, the panel underscored the responsibilities of researchers to engage transparently and respectfully with the subjects of their studies. This article summarizes some of the topics raised and debated at that meeting, including the specific challenges posed by the COVID-19 pandemic and the resulting surge in studies utilizing biological data from diverse populations, and the meaning of informed consent, genetic privacy, and data justice. The authors emphasize the importance of diversity and inclusion within research teams and leadership roles, and the role this can play in reshaping research approaches and fostering innovation in our field. They challenge the traditional notions of informed consent and encourage a more nuanced understanding that acknowledges the historical context and respects refusals as a form of knowledge production. The diverse perspectives shared at the symposium offer a glimpse into the ongoing efforts of biological anthropologists to navigate ethical challenges in contemporary human population studies. The collective aim is to spark sustained conversations and collaborative endeavors within biological anthropology and to promote continuous improvement in ethical standards and best practices.

Gene-Centric Laws in the Postgenomic Era: The Need for Protection of Epigenetic Information

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.

Forensic DNA database: balancing genetic privacy and crime prevention

Forensic DNA database: balancing genetic privacy and crime prevention

Do Your Genes Fit: How Life Insurance Companies Discriminate Based on Genetic Test Results

Abstract The Genetic Information Nondiscrimination Act of 2008 (GINA) represents a significant legislative step in protecting U.S. citizens from genetic discrimination in health insurance and employment. However, despite its broad preventive measures, GINA has limitations in scope and enforcement. Notably, it does not extend protections to life insurance, disability, and long-term care insurance, leaving U.S. citizens susceptible to genetic discrimination. State-level legislative efforts have tried to reconcile these vulnerabilities. Many state-level legislative efforts vary in effectiveness, with some states like Florida and Illinois enacting more robust laws. The future of genetic information protection requires an amendment to GINA or new federal legislation, drawing from successful state models to ensure adequate protections. This paper advocates for such national legislation, highlighting the minimal impact on the life insurance market and the importance of safeguarding genetic privacy to foster trust in genetic testing and scientific progress.

GAPBAS: Genetic algorithm-based privacy budget allocation strategy in differential privacy K-means clustering algorithm

The differential privacy k-means (DP k-means) clustering algorithm emerged to address the privacy protection challenges in the field of data mining. However, the algorithm encounters difficulties in achieving clustering usability and convergence. Privacy budget (ε), a critical parameter determining the noise addition in differential privacy algorithms, garners significant attention. Consequently, researchers have shifted their focus to studying privacy budget allocation strategies within the DP k-means clustering algorithm. However, the selection of a privacy budget allocation strategy in the DP k-means algorithm is an NP-hard problem. Our initial intuition is that genetic algorithms can efficiently discover relatively optimal privacy budget sequences. In this context, we propose a genetic algorithm-based privacy budget allocation strategy (GAPBAS) to ensure the convergence and usability of the DP k-means algorithm. Firstly, convergence is ensured by selecting improved initial centroids and rigorously controlling the minimum privacy budget for the DP k-means algorithm. Additionally, the privacy budget allocation strategy of the DP k-means algorithm is reformulated as a combinatorial optimization problem. This entails merging privacy budgets from multiple iterative rounds into a sequential sequence and utilizing a genetic algorithm to select the optimal privacy budget allocation strategy, thereby significantly enhancing the usability of the DP k-means algorithm. Comparative experiments against the other four privacy budget allocation strategies in the DP k-means algorithm demonstrate the superior performance of the genetic algorithm-based privacy budget allocation strategy at the same level of privacy protection.

Advances in molecular diagnostics for cardiovascular diseases: Techniques and applications

This review explores the cutting-edge advancements in molecular diagnostics for cardiovascular diseases (CVDs), emphasizing the transformative potential of genomic, proteomic, transcriptomic, and metabolomic technologies. The study highlights how these molecular diagnostics offer unprecedented precision in the early detection, risk assessment, and treatment personalization for complex cardiovascular conditions, such as coronary artery disease and heart failure. By utilizing advanced diagnostic tools like next-generation sequencing (NGS), artificial intelligence (AI), and multi-omics approaches, this paper reveals the potential of molecular diagnostics in reshaping cardiovascular healthcare. The key findings demonstrate that molecular diagnostics enable the identification of specific biomarkers and genetic mutations that drive CVD pathogenesis, leading to earlier and more accurate diagnoses. The review also acknowledges significant challenges, including the high cost of these technologies, the complexity of data interpretation, and ethical concerns regarding genetic privacy. Despite these barriers, the future of molecular diagnostics in CVD care is promising, with ongoing advancements in AI integration, real-time monitoring, and liquid biopsies providing exciting prospects for enhanced precision medicine. The study concludes by recommending increased research investments, clinical trials for tool validation, and the development of standardized protocols. It also suggests educational programs for clinicians to bridge the gap between diagnostics and practical clinical application, advocating for the comprehensive integration of molecular diagnostics into routine care to optimize cardiovascular health outcomes. Keywords: Molecular Diagnostics, Cardiovascular Diseases, Genomics, Multi-omics, Artificial Intelligence, Precision Medicine.

Solving Crimes While Protecting Genetic Privacy

Solving Crimes While Protecting Genetic Privacy

The Genetic Information Privacy Act

This Viewpoint discusses proposed and enacted state legislation to protect genetic privacy for those participating in direct-to-consumer genetic testing and ensuring genetic antidiscrimination for life, health, long-term care, and disability insurance.

Deep convolutional and conditional neural networks for large-scale genomic data generation.

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.

EXPLORING THE BUILDING BLOCKS OF LIFE: THE HUMAN GENOME PROJECT, ITS IMPACT IN TODAYS WORLD

The Human Genome Projects (HGP) conclusion altered a number of disciplines, including biotechnology, genetics, medicine, and forensics. Key outcomes included personalised medicine, gene therapy, and enhanced DNA profiling. The HGP increased our knowledge of hereditary illnesses and shed light on human evolution. The privacy of genetic information and the ethical application of knowledge were raised. The management and analysis of genomic data require the use of bioinformatics. The future of genetics and biology will be shaped by the HGPs substantial effects on healthcare, innovation, and the economy. In vitro fertilisation and preimplantation genetic diagnosis are two reproductive technology developments made possible by the HGP. Also, it sparked the creation of focused treatments for genetic diseases, completely altering the range of patient treatment options. These advancements have led to a new era of precision medicine and personalised healthcare, in addition to improving patient outcomes.

Somatic profiling guides germline genetic testing in patients with mutations in cancer predisposition genes.

10608 Background: 15% of patients with advanced cancer have an inherited predisposition to cancer. Over a third of patients carrying a pathogenic germline variant would not qualify for genetic testing based on current National Comprehensive Cancer Network genetic testing guidelines. Supplementing the current practice of somatic sequencing with germline testing would improve treatment decisions and be informative of the risk of developing subsequent cancers in the individual. It may also extend the benefits of high-risk screening programs to family members. Offering genetic testing to patients with the highest likelihood of carrying a germline mutation is preferable to unselected sequencing given the current environment. Methods: We developed a list of genes to help identify patients whose somatic mutations were more likely to be found in the germline as well. We classified these genes into 3 tiers based on the likelihood of germline pathogenicity. All somatic sequencing panel results were reviewed based on the IRB-approved protocol for our designated Tier One genes ( ATM, BAP1, BMPR1A, BRCA1, BRCA2, BRIP1, MSH2, MSH6, MUTYH, MYH11, PALB2, RUNX1, SDHAF2, SDHB, SDHC, and known founder mutations in additional genes). Treating physicians for patients whose tumors harbored a mutation in one of these genes were contacted and, if they agreed, patients were offered participation in this ongoing study. Enrolled patients had genetic counseling and testing for a multi-gene panel at no cost to them. Results: We reviewed 3621 somatic test results, and 339 (9.4%) patients were eligible for the study. 34 (10.03%) eligible patients were enrolled, and 33 (9.73%) completed testing. Of these, 16 had positive germline results (48.5%, though they may not all be in the originally identified genes), 8 had a variant of uncertain significance (24.2%), and 9 had negative testing (27.3%). Some patients were not referred by their treating physicians based on their own clinical assessment. Others were hesitant to enroll due to concerns about the privacy of genetic information. Other confounding factors may have affected our accrual, including the pandemic. Conclusions: Implementing a somatic profiling-based screening program to identify inherited cancer predisposition syndromes is feasible in patients who may not meet current germline genetic testing guidelines. Our study showed 9.73% of eligible patients underwent genetic counseling and testing, and an inherited predisposition to cancer was confirmed in almost 50% of these patients. In addition, family members were offered cascade testing. Germline genetic evaluation remains underutilized even when payor constraints are removed as a barrier. To increase the identification of patients with inherited predispositions to cancer other barriers such as a lack of referrals by treating oncologists need to be overcome.

An Analysis of Legal Doctrines and Regulations for Genetic Privacy

This paper explores the current state of genetic privacy, including the legal regimes of different countries, technological advances, and the scope of genetic privacy protection. The article also examines the judicial protection of genetic privacy, including legal means for data leakage and misuse. The study concludes that there are currently few legal doctrines or regulations that provide adequate protection for individuals and that it may be time to shift attention towards considering how and under what conditions to use genetic data while addressing the trade-offs between individual and societal interests.

Ethical principles of the scientific researcher: state of the art and updates

The ethical principles of the scientific researcher are fundamental to ensuring the integrity, transparency, and reliability of scientific research results. The current state of the art in ethics in scientific research involves a set of guidelines aimed at ensuring that research is conducted fairly, transparently, and with respect for human and animal rights. Among the most important ethical principles for the scientific researcher are respect for the autonomy and privacy of research participants, ensuring benefits and minimizing risks for participants, honesty in disclosing results, social and environmental responsibility, and respect for animal rights. In recent years, the ethical debate surrounding scientific research has intensified due to technological advances that present new ethical challenges, such as genetic manipulation, artificial intelligence, and data privacy. Additionally, the COVID-19 pandemic has brought important ethical issues to light, such as conducting research quickly in the midst of a public health emergency. We envision three other fundamental pillars related to the moment following the completion of scientific research, namely the definition of authorship of the scientific article, the choice of the scientific journal to which the article will be submitted for publication, and finally, the authors need to disseminate their results to society. Faced with these challenges, it is necessary for researchers to always be attentive to the ethical principles that govern scientific research and to be able to apply them consciously and responsibly in their research.