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This article investigates an under-discussed provision of the European Union's (EU's) General Data Protection Regulation (GDPR) regarding genetic data, i.e., the right to be forgotten. The debate on this right came from the commercerelated side of data protection instead of the medical side. Thus, this article addresses the implications of the RTBF for the lawful processing of familial genetic data. The article develops a normative, ethically focused principles argument about interpreting genetic data's right to be forgotten. It gives due consideration to autonomy, privacy, and human dignity. It argues that the individualistic approach of genetic privacy materialised through the extreme solution of data erasure is challenging to combine with familial and scientific research interests. The article suggests an interpretation of the GDPR according to bioethical principles and the inclusion of a specific exception regarding genetic data to prevent patients from claiming the right to be forgotten. [ABSTRACT FROM AUTHOR]

Copyright of Türkiye Adalet Akademisi Dergisi is the property of Justice Academy of Turkey 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.)

A newspecies of nematode, Molinostrongylus longmenensis n.sp., parasite of the genus Molinostrongylus, is described based on specimens recovered from the small intestine of Scotophilus kuhlii Leach, 1822 (Chiroptera: Vespertilionidae) in Longmen County, Guangdong Province, China. To date, 135 species of bat-parasitic nematodes have been reported worldwide. Overall, 13 species belonging to seven genera in three families have been described in China. The new species is characterized by the presence of three ventral and three dorsal longitudinal cuticular ridges perpendicular to the body surface, which appear posterior to the cephalic vesicle and extend to the caudal bursa in males and the posterior end in females. The female tail has two medium-sized subventral conical processes of equal length, as well as one large dorsal conical process, and one thin spine, lateral alae that extend to the position of the vulva, with a fin-like ending. In addition, the new species was also characterized using molecular approaches, such as sequencing and analyzing the internal transcribed spacer 1 (ITS-1) of the ribosomal DNA. [ABSTRACT FROM AUTHOR]

Background: Understanding public attitudes to genomic data sharing is widely seen as key in shaping effective governance. However, empirical research in this area often fails to capture the contextual nuances of diverse sharing practices and regulatory concerns encountered in real-world genomic data sharing. This study aimed to investigate factors affecting public attitudes to data sharing through responses to diverse genomic data sharing scenarios. Methods: A set of seven empirically validated genomic data sharing scenarios reflecting a range of current practices in Australia was used in an open-ended survey of a diverse sample of the Australian public (n = 243). Qualitative responses were obtained for each of the scenarios. Respondents were each allocated one scenario and asked five questions on: whether (and why/not) they would share data; what sharing would depend on; benefits and risks of sharing; risks they were willing to accept if sharing was certain to result in benefits; and what could increase their comfort about sharing and any potential risk. A thematic analysis was used to examine responses, coded and validated by two blinded coders. Results: Participants indicated an overall high willingness to share genomic information, although this willingness varied considerably between different scenarios. A strong perception of benefits was reported as the foremost explanation for willingness to share across all scenarios. The high degree of convergence in the perception of benefits and the types of benefits identified by participants across all the scenarios suggests that the differentiation in intention to share may lie in perceptions of risk, which showed distinct patterns within and between the different scenarios. Some concerns were shared strongly across all scenarios, particularly benefit sharing, future use, and privacy. Conclusions: Qualitative responses provide insight into popular assumptions regarding existing protections, conceptions of privacy, and which trade-offs are generally acceptable. Our results indicate that public attitudes and concerns are heterogeneous and influenced by the context in which sharing takes place. The convergence of key themes such as benefits and future uses point to core concerns that must be centred in regulatory responses to genomic data sharing. [ABSTRACT FROM AUTHOR]

During the present study, DNA sequence and morphological data were used to delineate species boundaries in the velvet worm, Peripatopsis sedgwicki species complex. The combined mitochondrial cytochrome c oxidase subunit one (COI) and the nuclear 18S rRNA loci were phylogenetically analyzed using Bayesian inference and maximum likelihood platforms that both demonstrated the presence of four, statistically well-supported clades (A–D). In addition, five species delimitation methods (ASAP, bPTP, bGMYC, STACEY and iBPP) were used on the combined DNA sequence data to identify possible novel lineages. All five species delimitation methods supported the distinction of the Fort Fordyce Nature Reserve specimens in the Eastern Cape province, however, in the main P. sedgwicki s.l. species complex, the species delimitation methods revealed a variable number of novel operational taxonomic units. Gross morphological characters were of limited utility, with only the leg pair number in the Fort Fordyce Nature Reserve specimens and the white head-collar of the Van Stadens Wildflower Nature Reserve specimens being diagnostic. The RADseq results from the earlier study of P. sedgwicki s.l. provided highly congruent results with the four clades observed in the present study. The distribution of P. sedgwicki s.s. (clade B) is restricted to the western portions of its distribution in the Afrotemperate forested regions of the Western Cape Province, South Africa. Three novel species, P. collarium sp. nov., (clade C) P. margaritarius sp. nov., (clade A) and P. orientalis sp. nov., (clade D) are described, of which the first two species are narrow range endemics. The present study, along with several recent systematic studies of velvet worms affirms the importance of fine-scale sampling to detect and document the alpha taxonomic diversity of Onychophora. [ABSTRACT FROM AUTHOR]

Genomic data is generated, processed and analysed at an increasingly rapid pace. This data is not limited to the medical context, but plays an important role in other contexts in society, such as commercial DNA testing, the forensic setting, archaeological research, and genetic surveillance. Genomic information also crosses the borders of these domains, e.g. forensic use of medical genetic information, insurance use of medical genomic information, or research use of commercial genomic data. This paper (1) argues that an informed consent approach for genomic information has limitations in many societal contexts, and (2) seeks to broaden the bioethical debate on genomic information by suggesting an approach that is applicable across multiple societal contexts. I argue that the contextual integrity framework, a theory rooted in information technology and big data ethics, is an effective tool to explore ethical challenges that arise from genomic information within a variety of different contexts. Rather than focusing on individual control over information, the contextual integrity approach holds that information should be shared and protected according to the norms that govern certain distinct social contexts. Several advantages of this contextual integrity approach will be discussed. The paper concludes that the contextual integrity framework helps to articulate and address a broad spectrum of ethical, social, and political factors in a variety of different societal contexts, while giving consideration to the interests of individuals, groups, and society at large. [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]

Mendelian randomization (MR) leverages genetic information to examine the causal relationship between phenotypes allowing for the presence of unmeasured confounders. MR has been widely applied to unresolved questions in epidemiology, making use of summary statistics from genome-wide association studies on an increasing number of human traits. However, an understanding of essential concepts is necessary for the appropriate application and interpretation of MR. This review aims to provide a non-technical overview of MR and demonstrate its relevance to psychiatric research. We begin with the origins of MR and the reasons for its recent expansion, followed by an overview of its statistical methodology. We then describe the limitations of MR, and how these are being addressed by recent methodological advances. We showcase the practical use of MR in psychiatry through three illustrative examples – the connection between cannabis use and psychosis, the link between intelligence and schizophrenia, and the search for modifiable risk factors for depression. The review concludes with a discussion of the prospects of MR, focusing on the integration of multi-omics data and its extension to delineating complex causal networks. [ABSTRACT FROM AUTHOR]

In this work is addressed the need for international judicial cooperation and especially the forensic cooperation by using forensic databases. It also describes how forensic data is exchanged within the European Union by detailing the AFIS data systems, IBIS and the National Judicial Genetic Data System. [ABSTRACT FROM AUTHOR]

INTRODUCTION: The Dementias Platform UK (DPUK) Data Portal is a data repository bringing together a wide range of cohorts. Neurodegenerative dementias are a group of diseases with highly heterogeneous pathology and an overlapping genetic component that is poorly understood. The DPUK collection of independent cohorts can facilitate research in neurodegeneration by combining their genetic and phenotypic data. METHODS: For genetic data processing, pipelines were generated to perform quality control analysis, genetic imputation, and polygenic risk score (PRS) derivation with six genome‐wide association studies of neurodegenerative diseases. Pipelines were applied to five cohorts. DISCUSSION: The data processing pipelines, research‐ready imputed genetic data, and PRS scores are now available on the DPUK platform and can be accessed upon request though the DPUK application process. Harmonizing genome‐wide data for multiple datasets increases scientific opportunity and allows the wider research community to access and process data at scale and pace. [ABSTRACT FROM AUTHOR]

Copyright of Revista Brasileira de Direito Processual Penal is the property of Instituto Brasileiro de Direito Processual Penal 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.)

Case C‑205/21 VS v Ministerstvo na vatreshnite raboti, Glavna direktsia za borba s organiziranata prestapnost, Judgment of the Court of Justice of the European Union of 26 January 2023 The Court of Justice of the European Union (CJEU) decided that the systematic collection of biometric and genetic data of any accused individual in order for them to be entered in police records in an indiscriminate and generalised manner is not in compliance with the Union law. After summarising the judgment, this case note first questions whether the CJEU misclassified the personal data in question as genetic data. Then, it points out that the condition enshrined in Article 10 of the Law Enforcement Directive that allows sensitive data processing by law enforcement authorities only where strictly necessary is considered by the CJEU as a specific manifestation of lato sensu proportionality assessment. Considering that law enforcement authorities in the EU rely more and more on (biometric) technologies to prevent and fight against crimes, it concludes by speculating on some of the potential implications of this interpretation. [ABSTRACT FROM AUTHOR]

Species of Baylisascaris (Nematoda: Ascarididae) are of great veterinary and zoonotic significance, owing to cause Baylisascariosis or Baylisascariasis in wildlife, captive animals and humans. However, the phylogenetic relationships of the current 10 Baylisascaris species remain unclear. Moreover, our current knowledge of the detailed morphology and morphometrics of the important zoonotic species B. procyonis is still insufficient. The taxonomical status of B. procyonis and B. columnaris remains under debate. In the present study, the detailed morphology of B. procyonis was studied using light and scanning electron microscopy based on newly collected specimens from the raccoon Procyon lotor (Linnaeus) in China. The results of the ASAP analysis and Bayesian inference (BI) using the 28S, ITS, cox1 and cox2 genetic markers did not support that B. procyonis and B. columnaris represent two distinct species. Integrative morphological and molecular assessment challenged the validity of B. procyonis, and suggested that B. procyonis seems to represent a synonym of B. columnaris. Molecular phylogenetic results indicated that the species of Baylisascaris were grouped into 4 clades according to their host specificity. The present study provided new insights into the taxonomic status of B. procyonis and preliminarily clarified the phylogenetic relationships of Baylisascaris species.

During the present study, DNA sequence and morphological data were used to delineate species boundaries in the velvet worm, Peripatopsis sedgwicki species complex. The combined mitochondrial cytochrome c oxidase subunit one (COI) and the nuclear 18S rRNA loci were phylogenetically analyzed using Bayesian inference and maximum likelihood platforms that both demonstrated the presence of four, statistically well-supported clades (A–D). In addition, five species delimitation methods (ASAP, bPTP, bGMYC, STACEY and iBPP) were used on the combined DNA sequence data to identify possible novel lineages. All five species delimitation methods supported the distinction of the Fort Fordyce Nature Reserve specimens in the Eastern Cape province, however, in the main P. sedgwicki s.l. species complex, the species delimitation methods revealed a variable number of novel operational taxonomic units. Gross morphological characters were of limited utility, with only the leg pair number in the Fort Fordyce Nature Reserve specimens and the white head-collar of the Van Stadens Wildflower Nature Reserve specimens being diagnostic. The RADseq results from the earlier study of P. sedgwicki s.l. provided highly congruent results with the four clades observed in the present study. The distribution of P. sedgwicki s.s. (clade B) is restricted to the western portions of its distribution in the Afrotemperate forested regions of the Western Cape Province, South Africa. Three novel species, P. collarium sp. nov., (clade C) P. margaritarius sp. nov., (clade A) and P. orientalis sp. nov., (clade D) are described, of which the first two species are narrow range endemics. The present study, along with several recent systematic studies of velvet worms affirms the importance of fine-scale sampling to detect and document the alpha taxonomic diversity of Onychophora.

Chronic obstructive pulmonary disease (COPD) is a major public health concern, affecting estimated 164 million people worldwide. Early detection and intervention strategies are essential to reduce the burden of COPD, but current screening approaches are limited in their ability to accurately predict risk. Machine learning (ML) models offer promise for improved accuracy of COPD risk prediction by combining genetic and electronic medical record data. In this study, we developed and evaluated eight ML models for primary screening of COPD utilizing routine screening data, polygenic risk scores (PRS), additional clinical data, or a combination of all three. To assess our models, we conducted a retrospective analysis of approximately 329,396 patients in the UK Biobank database. Incorporating personal information and blood biochemical test results significantly improved the model's accuracy for predicting COPD risk, achieving a best performance of 0.8505 AUC, a specificity of 0.8539 and a sensitivity of 0.7584. These results indicate that ML models can be effectively utilized for accurate prediction of COPD risk in individuals aged 20 to 50 years, providing a valuable tool for early detection and intervention. [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]

The rising cost of private health insurance and constraints within public health systems are global concerns. Genetic testing presents a transformative opportunity for health care to enhance health outcomes and optimise resource allocation through personalised medicine, early diagnosis, targeted treatments, managed care, and improved drug development. However, ethical and policy issues arise, including privacy, discrimination and equitable access to testing. Balancing these against potential health benefits poses a complex challenge. While some advocate for restricting health insurers from using genetic data, others argue that well-regulated private insurance can ensure affordability, improved health outcomes, and innovative care adoption. This article explores examples of improved health outcomes through genetic testing, identifies areas of risk related to insurers' use of genetic data, evaluates the adequacy of New Zealand's legal framework, and emphasises the need for ethical and equitable policy solutions. The broader issues of data governance, biases in algorithms, and implications of artificial intelligence and machine learning warrant separate exploration. [ABSTRACT FROM AUTHOR]

Abstract Background Precision healthcare has entered a new era because of the developments in personalized medicine, especially in the diagnosis and treatment of head and neck squamous cell carcinoma (HNSCC). This paper explores the dynamic landscape of personalized medicine as applied to HNSCC, encompassing both current developments and future prospects. Recent Findings The integration of personalized medicine strategies into HNSCC diagnosis is driven by the utilization of genetic data and biomarkers. Epigenetic biomarkers, which reflect modifications to DNA that can influence gene expression, have emerged as valuable indicators for early detection and risk assessment. Treatment approaches within the personalized medicine framework are equally promising. Immunotherapy, gene silencing, and editing techniques, including RNA interference and CRISPR/Cas9, offer innovative means to modulate gene expression and correct genetic aberrations driving HNSCC. The integration of stem cell research with personalized medicine presents opportunities for tailored regenerative approaches. The synergy between personalized medicine and technological advancements is exemplified by artificial intelligence (AI) and machine learning (ML) applications. These tools empower clinicians to analyze vast datasets, predict patient responses, and optimize treatment strategies with unprecedented accuracy. Conclusion The developments and prospects of personalized medicine in HNSCC diagnosis and treatment offer a transformative approach to managing this complex malignancy. By harnessing genetic insights, biomarkers, immunotherapy, gene editing, stem cell therapies, and advanced technologies like AI and ML, personalized medicine holds the key to enhancing patient outcomes and ushering in a new era of precision oncology.

Abstract Background Processing raw genomic data for downstream applications such as imputation, association studies, and modeling requires numerous third-party bioinformatics software tools. It is highly time-consuming and resource-intensive with computational demands and storage limitations that pose significant challenges that increase cost. The use of software tools independent of one another, in a disjointed stepwise fashion, increases the difficulty and sets forth higher error rates because of fragmented job executions in alignment, variant calling, and/or build conversion complications. As sequencing data availability grows, the ability for biologists to process it using stable, automated, and reproducible workflows is paramount as it significantly reduces the time to generate clean and reliable data. Results The Iliad suite of genomic data workflows was developed to provide users with seamless file transitions from raw genomic data to a quality-controlled variant call format (VCF) file for downstream applications. Iliad benefits from the efficiency of the Snakemake best practices framework coupled with Singularity and Docker containers for repeatability, portability, and ease of installation. This feat is accomplished from the onset with download acquisitions of any raw data type (FASTQ, CRAM, IDAT) straight through to the generation of a clean merged data file that can combine any user-preferred datasets using robust programs such as BWA, Samtools, and BCFtools. Users can customize and direct their workflow with one straightforward configuration file. Iliad is compatible with Linux, MacOS, and Windows platforms and scalable from a local machine to a high-performance computing cluster. Conclusion Iliad offers automated workflows with optimized time and resource management that are comparable to other workflows available but generates analysis-ready VCF files from the most common datatypes using a single command. The storage footprint challenge of genomic data is overcome by utilizing temporary intermediate files before the final VCF is generated. This file is ready for use in imputation, genome-wide association study (GWAS) pipelines, high-throughput population genetics studies, select gene candidate studies, and more. Iliad was developed to be portable, compatible, scalable, robust, and repeatable with a simplistic setup, so biologists that are less familiar with programming can manage their own big data with this open-source suite of workflows.

Abstract Background Nematodes of the family Physalopteridae (Spirurida: Physalopteroidea) commonly parasitize the alimentary canal of all major vertebrate groups. However, many physalopterid species are not adequately described, especially regarding the detailed morphology of the cephalic end. The current genetic database for Physaloptera species is still very limited, which seriously hampers molecular-based species identification. Additionally, the systematic status of some genera and the evolutionary relationships of the subfamilies in the Physalopteridae remain under debate. Methods New morphological data for Physaloptera sibirica was gathered using light and scanning electron microscopy based on newly collected specimens from the hog badger Arctonyx collaris Cuvier (Carnivora: Mustelidae) in China. Six different genetic markers, including nuclear small ribosomal DNA (18S), large ribosomal DNA (28S) and internal transcribed spacer (ITS), mitochondrial cytochrome c oxidase subunit 1 (cox1) and subunit 2 (cox2), and the 12S small subunit ribosomal RNA gene of P. sibirica were sequenced and analyzed for the first time to our knowledge. Additionally, to construct a basic molecular phylogenetic framework for the Physalopteridae, phylogenetic analyses were performed based on the cox1 and 18S + cox1 genes using maximum likelihood (ML) and Bayesian inference (BI) methods. Results Scanning electron microscopy (SEM) observation displayed the details of the cephalic structures, deirids, excretory pore, caudal papillae, vulva, phasmids and egg of P. sibirica for the first time to our knowledge. Pairwise comparison of the sequences obtained for P. sibirica did not reveal intraspecific divergence regarding the 18S, 28S, cox1 and 12S genetic markers and a low level of divergence in the ITS (0.16%) and cox2 (2.39%) regions. Maximum likelihood and Bayesian inference analyses showed that the representatives of Physalopteridae formed two major clades (species of Physalopterinae + Thubunaeinae parasitic in terrestrial vertebrates and Proleptinae only occurring in marine or freshwater fishes). Turgida turgida was found nested among representatives of Physaloptera. Physaloptera sibirica clustered together with P. rara. Physalopteroides sp. (Thubunaeinae) formed a sister relationship to the physalopterine Abbreviata caucasica. Conclusions Physaloptera sibirica was redescribed, which is the fourth nematode parasite reported from the hog badger A. collaris, and A. collaris represents a new host for P. sibirica. The phylogenetic results challenged the validity of the subfamily Thubunaeinae and of the genus Turgida and supported dividing the family Physalopteridae into two subfamilies, Physalopterinae and Proleptinae. However, we do not make any immediate systematic changes in the Physalopteridae, because a more rigorous study with broader representation of the Physalopteridae is required. These present findings contribute to morphologically identifying P. sibirica more accurately and provide new insights into the systematics of the Physalopteridae. Graphical Abstract

Abstract The oligochaete Dero lutzi follows a life strategy that alternates between free-living periods in aquatic environments and endoparasitic phases. Most occurrences of D. lutzi in anurans are reported in species with arboreal habits, with studies limited to the recording of the oligochaete’s presence in the host. Our study recovered specimens of D. lutzi from the tree frogs Scinax fuscovarius and Scinax. nasicus. We performed a morphological assessment of the parasite using light microscopy, for the first time, scanning electron microscopy. Molecular characterization of D. lutzi was carried out using the mitochondrial gene 16S rRNA and the nuclear gene 28S rRNA. Additionally, a phylogenetic tree was constructed to assess the species´position in relation to other group members. In our results, we confirmed the phenotypic morphological characteristics of the endoparasitic phase of D. lutzi. We also presented its phylogenetic position with other oligochaetes in the group, demonstrating the proximity between the endoparasite D. lutzi and the free-living oligochaete D. superterrenus.

Background: Processing raw genomic data for downstream applications such as imputation, association studies, and modeling requires numerous third-party bioinformatics software tools. It is highly time-consuming and resource-intensive with computational demands and storage limitations that pose significant challenges that increase cost. The use of software tools independent of one another, in a disjointed stepwise fashion, increases the difficulty and sets forth higher error rates because of fragmented job executions in alignment, variant calling, and/or build conversion complications. As sequencing data availability grows, the ability for biologists to process it using stable, automated, and reproducible workflows is paramount as it significantly reduces the time to generate clean and reliable data. Results: The Iliad suite of genomic data workflows was developed to provide users with seamless file transitions from raw genomic data to a quality-controlled variant call format (VCF) file for downstream applications. Iliad benefits from the efficiency of the Snakemake best practices framework coupled with Singularity and Docker containers for repeatability, portability, and ease of installation. This feat is accomplished from the onset with download acquisitions of any raw data type (FASTQ, CRAM, IDAT) straight through to the generation of a clean merged data file that can combine any user-preferred datasets using robust programs such as BWA, Samtools, and BCFtools. Users can customize and direct their workflow with one straightforward configuration file. Iliad is compatible with Linux, MacOS, and Windows platforms and scalable from a local machine to a high-performance computing cluster. Conclusion: Iliad offers automated workflows with optimized time and resource management that are comparable to other workflows available but generates analysis-ready VCF files from the most common datatypes using a single command. The storage footprint challenge of genomic data is overcome by utilizing temporary intermediate files before the final VCF is generated. This file is ready for use in imputation, genome-wide association study (GWAS) pipelines, high-throughput population genetics studies, select gene candidate studies, and more. Iliad was developed to be portable, compatible, scalable, robust, and repeatable with a simplistic setup, so biologists that are less familiar with programming can manage their own big data with this open-source suite of workflows. [ABSTRACT FROM AUTHOR]

Purpose: Food choices profoundly affect one's dietary, nutritional and health outcomes. Using alcoholic beverages as a case study, the authors assess the potential of genetic data in predicting consumers' food choices combined with conventional socio-demographic data. Design/methodology/approach: A discrete choice experiment was conducted to elicit the underlying preferences of 484 participants from seven provinces in China. By linking three types of data (—data from the choice experiment, socio-demographic information and individual genotyping data) of the participants, the authors employed four machine learning-based classification (MLC) models to assess the performance of genetic information in predicting individuals' food choices. Findings: The authors found that the XGBoost algorithm incorporating both genetic and socio-demographic data achieves the highest prediction accuracy (77.36%), significantly outperforming those using only socio-demographic data (permutation test p-value = 0.033). Polygenic scores of several behavioral traits (e.g. depression and height) and genetic variants associated with bitter taste perceptions (e.g. TAS2R5 rs2227264 and TAS2R38 rs713598) offer contributions comparable to that of standard socio-demographic factors (e.g. gender, age and income). Originality/value: This study is among the first in the economic literature to empirically demonstrate genetic factors' important role in predicting consumer behavior. The findings contribute fresh insights to the realm of random utility theory and warrant further consumer behavior studies integrating genetic data to facilitate developments in precision nutrition and precision marketing. [ABSTRACT FROM AUTHOR]

The aim to this study was to assess preferences for sharing of electronic health record (EHR) and genetic information separately and to examine whether there are different preferences for sharing these 2 types of information. Using a population-based, nationally representative survey of the United States, we conducted a discrete choice experiment in which half of the subjects (N = 790) responded to questions about sharing of genetic information and the other half (N = 751) to questions about sharing of EHR information. Conditional logistic regression models assessed relative preferences across attribute levels of where patients learn about health information sharing, whether shared data are deidentified, whether data are commercialized, how long biospecimens are kept, and what the purpose of sharing the information is. Individuals had strong preferences to share deidentified (vs identified) data (odds ratio [OR] 3.26, 95% confidence interval 2.68-3.96) and to be able to opt out of sharing information with commercial companies (OR 4.26, 95% confidence interval 3.42-5.30). There were no significant differences regarding how long biospecimens are kept or why the data are being shared. Individuals had a stronger preference for opting out of sharing genetic (OR 4.26) versus EHR information (OR 2.64) (P =.002). Hospital systems and regulatory bodies should consider patient preferences for sharing of personal medical records or genetic information. For both genetic and EHR information, patients strongly prefer their data to be deidentified and to have the choice to opt out of sharing information with commercial companies. • There has been a rapid increase in the use of electronic health records, but regulatory bodies and hospital systems do not consider patient preferences in how these data can be shared. • In a survey of US adults, there was a strong preference to allow hospitals to share electronic health record data and genetic data only after deidentification and to let patients opt out of sharing information with commercial companies. • In terms of communicating to patients how their information is shared, the use of a patient portal may be more effective and preferred to other modes of communication. [ABSTRACT FROM AUTHOR]

On Sept 1, 2023, Partners in Digital Health, publisher of Blockchain in Healthcare Today (BHTY,) conducted the 4th Annual ConVerge2Xcelerate (ConV2X) Ignition Pitch Competition. The competition was recorded for journal and On Demand broadcast viewing. Seven competitors in the digital health and DLT markets presented to eight decerning judges. Entrants were asked to demonstrate how products and services directly impact the telehealth and blockchain in healthcare technology fields from around the globe. Product solution catgories included, but were not limited to: AI & Tech in Telehealth and Medicine • Smart home care design, AI, sensors, robotics, chronic care condition(s) using RPM, reducing cost for health systems or patients, enhancing the physician-patient relationship, mixed reality to enhance outcomes in patient care, etc. Advancing the Business of Health with Blockchain Technology • Monetization of data, interoperability, improving population health, precision medicine, public health & equity, digital twins, secure identity, DeFi, medical metaverse, supply chain, clinical trials, etc. Scores were rated from 1-5, with 5 being the highest/best. Criteria appears below. Scores were taillied, and winners selected for each category. • Impact: • How likely is the solution to improve outcomes for the problem identified? • Innovation: • Does the team provide a convincing rationale for why their solution may work? • Does the solution provide a creative approach and address specific user needs? • Scalability: • How easy would it be to develop and implement this solution? • Could this solution scale across different markets and therapeutic areas? • Presentation: • How effective was the presentation overall? • Was the solution they are proposing convincingly articulated, presented or visualized?

Background: Nematodes of the family Physalopteridae (Spirurida: Physalopteroidea) commonly parasitize the alimentary canal of all major vertebrate groups. However, many physalopterid species are not adequately described, especially regarding the detailed morphology of the cephalic end. The current genetic database for Physaloptera species is still very limited, which seriously hampers molecular-based species identification. Additionally, the systematic status of some genera and the evolutionary relationships of the subfamilies in the Physalopteridae remain under debate. Methods: New morphological data for Physaloptera sibirica was gathered using light and scanning electron microscopy based on newly collected specimens from the hog badger Arctonyx collaris Cuvier (Carnivora: Mustelidae) in China. Six different genetic markers, including nuclear small ribosomal DNA (18S), large ribosomal DNA (28S) and internal transcribed spacer (ITS), mitochondrial cytochrome c oxidase subunit 1 (cox1) and subunit 2 (cox2), and the 12S small subunit ribosomal RNA gene of P. sibirica were sequenced and analyzed for the first time to our knowledge. Additionally, to construct a basic molecular phylogenetic framework for the Physalopteridae, phylogenetic analyses were performed based on the cox1 and 18S + cox1 genes using maximum likelihood (ML) and Bayesian inference (BI) methods. Results: Scanning electron microscopy (SEM) observation displayed the details of the cephalic structures, deirids, excretory pore, caudal papillae, vulva, phasmids and egg of P. sibirica for the first time to our knowledge. Pairwise comparison of the sequences obtained for P. sibirica did not reveal intraspecific divergence regarding the 18S, 28S, cox1 and 12S genetic markers and a low level of divergence in the ITS (0.16%) and cox2 (2.39%) regions. Maximum likelihood and Bayesian inference analyses showed that the representatives of Physalopteridae formed two major clades (species of Physalopterinae + Thubunaeinae parasitic in terrestrial vertebrates and Proleptinae only occurring in marine or freshwater fishes). Turgida turgida was found nested among representatives of Physaloptera. Physaloptera sibirica clustered together with P. rara. Physalopteroides sp. (Thubunaeinae) formed a sister relationship to the physalopterine Abbreviata caucasica. Conclusions: Physaloptera sibirica was redescribed, which is the fourth nematode parasite reported from the hog badger A. collaris, and A. collaris represents a new host for P. sibirica. The phylogenetic results challenged the validity of the subfamily Thubunaeinae and of the genus Turgida and supported dividing the family Physalopteridae into two subfamilies, Physalopterinae and Proleptinae. However, we do not make any immediate systematic changes in the Physalopteridae, because a more rigorous study with broader representation of the Physalopteridae is required. These present findings contribute to morphologically identifying P. sibirica more accurately and provide new insights into the systematics of the Physalopteridae. [ABSTRACT FROM AUTHOR]

Abstract Background The infraorder Rhigonematomorpha comprises a group of obligate parasitic nematodes of millipedes (Arthropoda: Diplopoda). The current species identification of Rhigonematomorpha nematodes remains mainly based on morphological features, with molecular-based identification still in its infancy. Also, current knowledge of the phylogeny of Rhigonematomorpha is far from comprehensive. Methods The morphology of Rhigonematomorpha nematodes belonging to the genus Rhigonema, collected from the millipede Spirobolus bungii Brandt (Diplopoda: Spirobolida) in China, was studied in detail using light and scanning electron microscopy. Five different genetic markers, including the nuclear small ribosomal subunit (18S), internal transcribed spacer (ITS) and large ribosomal subunit (28S) regions and the mitochondrial cox1 and cox2 genes of these Rhigonematomorpha nematodes collected from China and Rhigonema naylae collected from Japan were sequenced and analyzed using Bayesian inference (BI) and Assemble Species by Automatic Partitioning (ASAP) methods. Phylogenetic analyses that included the most comprehensive taxa sampling of Rhigonematomorpha to date were also performed based on the 18S + 28S genes using maximum likelihood (ML) and BI methods. Results The specimens of Rhigonema collected from S. bungii in China were identified as a new species, Rhigonema sinense n. sp. Striking variability in tail morphology was observed among individuals of R. sinense n. sp. ASAP analyses based on the 28S, ITS, cox1 and cox2 sequences supported the species partition of R. sinense n. sp. and R. naylae, but showed no evidence that the different morphotypes of R. sinense n. sp. represent distinct genetic lineages. BI analyses also indicated that R. sinense n. sp. represents a separated species from R. naylae based on the cox1 and cox2 genes, but showed that R. naylae nested in samples of R. sinense n. sp. based on the ITS and 28S data. Phylogenetic results showed that the representatives of Rhigonematomorpha formed two large clades. The monophyly of the families Carnoyidae and Ichthyocephalidae and the genus Rhigonema was rejected. The representatives of the family Ransomnematidae clustered together with the family Hethidae with strong support. Conclusions A new species of Rhigonematomorpha, R. sinense n. sp. is described based on morphological and molecular evidence. ASAP analyses using 28S, ITS, cox1 and cox2 data indicate the striking variability in tail morphology of R. sinense n. sp. as intraspecific variation, and also suggest that partial 28S, ITS, cox1 and cox2 markers are effective for molecular identification of Rhigonematomorpha nematodes. The phylogenetic results support the traditional classification of Rhigonematomorpha into the two superfamilies Rhigonematoidea and Ransomnematoidea, and indicate that the families Carnoyidae and Ichthyocephalidae and the genus Rhigonema are non-monophyletic. The present phylogeny strongly supports resurrection of the family Brumptaemiliidae, and also indicates that the family Ransomnematidae is sister to the family Hethidae. Graphical Abstract

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Ongoing health challenges, such as the increased global burden of chronic disease, are increasingly answered by calls for personalized approaches to healthcare. Genomic medicine, a vital component of these personalization strategies, is applied in risk assessment, prevention, prognostication, and therapeutic targeting. However, several practical, ethical, and technological challenges remain. Across Europe, Personal Health Data Space (PHDS) projects are under development aiming to establish patient-centered, interoperable data ecosystems balancing data access, control, and use for individual citizens to complement the research and commercial focus of the European Health Data Space provisions. The current study explores healthcare users' and health care professionals' perspectives on personalized genomic medicine and PHDS solutions, in casu the Personal Genetic Locker (PGL). A mixed-methods design was used, including surveys, interviews, and focus groups. Several meta-themes were generated from the data: (i) participants were interested in genomic information; (ii) participants valued data control, robust infrastructure, and sharing data with non-commercial stakeholders; (iii) autonomy was a central concern for all participants; (iv) institutional and interpersonal trust were highly significant for genomic medicine; and (v) participants encouraged the implementation of PHDSs since PHDSs were thought to promote the use of genomic data and enhance patients' control over their data. To conclude, we formulated several facilitators to implement genomic medicine in healthcare based on the perspectives of a diverse set of stakeholders. [ABSTRACT FROM AUTHOR]

Since the 1970s and more rigorously since the 1990s, many countries have regulated data protection and privacy laws in order to ensure the safety and privacy of personal data. First, a comparison is made of different acts regarding genetic information that are in force in the EU, the USA, and China. In Turkey, changes were adopted only recently following intense debates. This study aims to explore the experts' opinions on the regulations of the health information systems, data security, privacy, and confidentiality in Turkey, with a particular focus on genetic data, which is more sensitive than other health data as it is a permanent identifier that is inherited to next of kin and shared with other family members. Two focus groups with 18 experts and stakeholders were conducted, discussing topics such as central data collection, legalized data sharing, and the management of genetic information in health information systems. The article concludes that the new Turkish personal data protection law is problematic as the frame of collectible data is wide-ranging, and the exceptions are extensive. Specific laws or articles dedicated to genetic data that also overlook the dimension of discrimination based on genetic differences in Turkey should be taken into consideration. In broader terms, it is intended to put up for discussion that in addition to ethical aspects, economic aspects and legal aspects of health should be included in the discussion to be carried out within the framework of socio-political analyses with culture-specific approaches and cross-culture boundaries simultaneously. [ABSTRACT FROM AUTHOR]

Integrative taxonomic reviews of highly charismatic carnivores such as the neotropical olingos (Bassaricyon) is limited by the scarcity of specimens for morphological and associated material, such as fresh tissues for molecular analyses. Although Colombia harbors three olingo species (Bassaricyon alleni, B. medius, and B. neblina), only sequences of a single individual are available. Here, we present records that fill gaps in areas with sampling bias and extend the information on the current and potential distribution of olingos from Colombia. Furthermore, we generated new cytochrome-b and Cholinergic Receptor Nicotinic Alpha Polypeptide 1 precursor sequences from three additional specimens from Colombia. B. medius shows the widest distribution from northern Panama, crossing the Pacific Forest, the Magdalena basin, the Caribbean, and the Andean slopes in Colombia to Tumbes in Peru. For B. neblina, the potential distribution extends over the northern Andes, including the Occidental and the Central cordilleras of Colombia, and the Occidental and Oriental Andes of Ecuador. Despite B. alleni has the largest potential distribution in Colombia, we only found seven records from the montane forests of the Cordillera Oriental. The area of occupancy (AOO) and the extent of occurrence (EOO) in Colombia is 84 km2 and 141,970 km2 for B. medius, 116 km2 and 126,530 km2 for B. neblina. Although B. alleni has a larger potential distribution, there is a scarcity of records for this species in Colombia, and its AOO is only 28 km2. This information could be useful to assess research priorities and threats for olingos in Colombia. [ABSTRACT FROM AUTHOR]

First, I appreciate the contribution by M. S. Mani to gall-midge studies in Japan. He described two Japanese pestiferous Cecidomyiidae in response to the request from Japanese entomologists. His book Ecology of Plant Galls encouraged young Japanese students, who just started to study gall-inducing insects. Secondly, the importance of genetic data is emphasized in this paper to support morphological identification of the Cecidomyiidae of the Oriental region. Species identification is essential to establish methods of control measures against invasive Cecidomyiidae. Thirdly, I expect young Indian entomologists to challenge via ecological investigations benefiting from the convenience of plentifully available Cecidomyiidae and the galls they induce in the Indian subcontinent. Ecological data on tropical and subtropical Cecidomyiidae is highly necessary. [ABSTRACT FROM AUTHOR]

Abstract Background The genus Cissophyllus (Cosmocercoidea: Kathlaniidae) is a rare group of nematodes parasitic in turtles and lizards. To date, only four species have been reported in Asia and North America. However, most of them are inadequately described. The species Cissophyllus leytensis has never been reported since it was originally described by Tubangui and Villaamil in 1933 from the Philippine sailfin lizard Hydrosaurus pustulatus (Eschscholtz, 1829) (Reptilia: Squamata). Furthermore, the systematic status of Cissophyllus/Cissophyllinae in the family Kathlaniidae of the superfamily Cosmocercoidea remains under debate. Methods The detailed morphology of C. leytensis was studied using light microscopy (LM) and, for the first time, scanning electron microscopy (SEM), based on newly collected specimens from the type host H. pustulatus. Six different genetic markers, including nuclear sequences [small ribosomal subunit (18S), internal transcribed spacer (ITS) and large ribosomal subunit (28S)], plus mitochondrial genes [cytochrome c oxidase subunit 1 (cox1), cytochrome c oxidase subunit 2 (cox2) and 12S small subunit ribosomal RNA gene] of C. leytensis were sequenced. Additionally, in order to test the validity of the subfamily Cissophyllinae and clarify the phylogenetic relationships of Cissophyllus and the other genera in the family Kathlaniidae, phylogenetic analyses based on 18S + 28S and ITS sequence data were performed using maximum likelihood (ML) and Bayesian inference (BI) analyses, respectively. Results Our observations using LM and SEM revealed some previously unreported morphological features, necessitating the redescription of this poorly known species. The presence of remarkable morphological variation in the isthmus and the position of excretory pore among different individuals was found. Molecular analysis showed no intraspecific nucleotide divergence detected in the 18S, ITS, 28S, cox2 and 12S regions among different individuals of C. leytensis, but a low level of intraspecific genetic variation was found in the cox1 (0.52%). Our phylogenetic results showed the representatives of the Cosmocercoidea divided into four large clades (Cosmocerca + Aplectana + Cosmocercoides representing the family Cosmocercidae, Cruzia representing the subfamily Cruzinae of Kathlaniidae, Falcaustra + Cissophyllus + Megalobatrachonema representing the subfamily Kathlaniinae of Kathlaniidae, and Orientatractis + Rondonia representing the family Atractidae). The genus Cissophyllus clustered together with the genus Megalobatrachonema in both the ML and BI trees using ITS sequence data, but displayed a sister relationship to the genus Falcaustra in the ML tree and to the genera Falcaustra + Megalobatrachonema in the BI tree using 18S + 28S sequence data. Conclusions Molecular phylogenetic results further confirmed that the family Kathlaniidae is not a monophyletic group. The subfamily Cruziinae should be moved from the hitherto-defined family Kathlaniidae and elevated as a separate family Cruziidae. The present phylogenetic results also negated the validity of the subfamily Cissophyllinae and supported the genus Cissophyllus assigned in the subfamily Kathlaniinae. Molecular analysis indicated that the morphological variation in the isthmus and position of excretory pore among different individuals should be considered as intraspecific variation. Moreover, some characters important for the specific diagnosis of C. leytensis are reported for the first time: the number of acuminate denticles (lamellae) on each lip, the chitinized pharynx with three flabellate pharyngeal plates, the presence of single medioventral precloacal papilla and the detailed morphology of caudal papillae. The present study is only the second record of C. leytensis. Graphical Abstract

Genetic counseling is a field of high-tech medicine, and its development gives rise to many ethical and legal problems associated primarily with the specifics of genetic data. The purpose of this article is to map the problems of bioethical regulation in genetic counseling, as well as approaches to their solution. To structure the problem field, a principlist approach was chosen. Main results: It is shown that bioethical problems of genetic counseling arise not only in connection with adherence to separate bioethical principles, but also in connection with the conflict between the principles of autonomy and beneficence. It is proposed to distinguish two dimensions of this conflict: 1. Individual, associated primarily with the exercise by a person of the right not to know about his/her hereditary risks; 2. Family, associated with the contradiction between the observance of medical secrecy (as part of autonomy) and the potential benefit from informing the patient's relatives about their possible hereditary risks. Conclusions: The models for resolving bioethical collisions highlight new aspects of meaning of autonomy. In the context of genetic counseling, it is possible to understand autonomy not as non-interference, but as an opportunity to control the disposal of genetic data. At the same time, in the context of regulating this disposal, the autonomy of the patient's family members can also be taken into account.

Background: The infraorder Rhigonematomorpha comprises a group of obligate parasitic nematodes of millipedes (Arthropoda: Diplopoda). The current species identification of Rhigonematomorpha nematodes remains mainly based on morphological features, with molecular-based identification still in its infancy. Also, current knowledge of the phylogeny of Rhigonematomorpha is far from comprehensive. Methods: The morphology of Rhigonematomorpha nematodes belonging to the genus Rhigonema, collected from the millipede Spirobolus bungii Brandt (Diplopoda: Spirobolida) in China, was studied in detail using light and scanning electron microscopy. Five different genetic markers, including the nuclear small ribosomal subunit (18S), internal transcribed spacer (ITS) and large ribosomal subunit (28S) regions and the mitochondrial cox1 and cox2 genes of these Rhigonematomorpha nematodes collected from China and Rhigonema naylae collected from Japan were sequenced and analyzed using Bayesian inference (BI) and Assemble Species by Automatic Partitioning (ASAP) methods. Phylogenetic analyses that included the most comprehensive taxa sampling of Rhigonematomorpha to date were also performed based on the 18S + 28S genes using maximum likelihood (ML) and BI methods. Results: The specimens of Rhigonema collected from S. bungii in China were identified as a new species, Rhigonema sinense n. sp. Striking variability in tail morphology was observed among individuals of R. sinense n. sp. ASAP analyses based on the 28S, ITS, cox1 and cox2 sequences supported the species partition of R. sinense n. sp. and R. naylae, but showed no evidence that the different morphotypes of R. sinense n. sp. represent distinct genetic lineages. BI analyses also indicated that R. sinense n. sp. represents a separated species from R. naylae based on the cox1 and cox2 genes, but showed that R. naylae nested in samples of R. sinense n. sp. based on the ITS and 28S data. Phylogenetic results showed that the representatives of Rhigonematomorpha formed two large clades. The monophyly of the families Carnoyidae and Ichthyocephalidae and the genus Rhigonema was rejected. The representatives of the family Ransomnematidae clustered together with the family Hethidae with strong support. Conclusions: A new species of Rhigonematomorpha, R. sinense n. sp. is described based on morphological and molecular evidence. ASAP analyses using 28S, ITS, cox1 and cox2 data indicate the striking variability in tail morphology of R. sinense n. sp. as intraspecific variation, and also suggest that partial 28S, ITS, cox1 and cox2 markers are effective for molecular identification of Rhigonematomorpha nematodes. The phylogenetic results support the traditional classification of Rhigonematomorpha into the two superfamilies Rhigonematoidea and Ransomnematoidea, and indicate that the families Carnoyidae and Ichthyocephalidae and the genus Rhigonema are non-monophyletic. The present phylogeny strongly supports resurrection of the family Brumptaemiliidae, and also indicates that the family Ransomnematidae is sister to the family Hethidae. [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]