Privacy Concerns regarding Open Medical Data (Preprint)

2021 ◽  
Author(s):  
Jingquan Li
Keyword(s):  
Ethical Issues ◽  
Association Studies ◽  
Medical Data ◽  
Genome Project ◽  
Future Research ◽  
Personal Genome ◽  
Genome Wide Association Studies ◽  
Medical Database ◽  
Individual Genome ◽  
Privacy Concerns

UNSTRUCTURED With next-generation sequencing (NGS), it is now feasible to sequence large amounts of DNA and publish comprehensive individual genome-phenome data sets for genome-wide association studies. The Personal Genome Project (PGP) is a collaborative research initiative that aims to sequence and publicize the complete genomes and medical records of 100,000 volunteers, in order to enable NGS into personal genomics and personalized medicine. The PGP puts genome data in an open medical database on the Internet to promote studies by many researchers and citizen scientists. However, open medical data pose significant privacy and ethical issues because it can convey identifiable and predictive information concerning particular individuals and their family members and relatives. The purpose of this paper is to identify the most important privacy and security risks of open medical data and explain how to use data protection and privacy policies to handle the risks. This paper begins by detailing the growth of genetic testing and the characteristics of genomic data. We then present the case study of the PGP’s open medical data and open consent model and highlight how open medical data could raise important questions regarding privacy and confidentiality of genomic and personal data. We further propose privacy policy considerations to resolve these challenging privacy concerns. We conclude with a discussion of the implications of the study and directions of future research.

scholarly journals Genetic Basis of Mastitis Resistance in Dairy Cattle – A Review / Podstawy Genetyczne Odporności Krów Mlecznych Na Zapalenie Wymienia – Artykuł Przeglądowy

2013 ◽  
Vol 13 (4) ◽  
pp. 663-673 ◽  
Author(s):  
Grażyna Sender ◽  
Agnieszka Korwin-Kossakowska ◽  
Adrianna Pawlik ◽  
Karima Galal Abdel Hameed ◽  
Jolanta Oprządek
Keyword(s):  
Dairy Cattle ◽  
Association Studies ◽  
Genetic Resistance ◽  
Clinical Mastitis ◽  
Future Research ◽  
Complex Nature ◽  
Candidate Gene Approach ◽  
Genome Wide Association Studies ◽  
Polygenic Control ◽  
Breeding Programmes

Abstract Mastitis is one of the most important mammary gland diseases impacting lactating animals. Resistance to this disease could be improved by breeding. There are several selection methods for mastitis resistance. To improve the natural genetic resistance of cows in succeeding generations, current breeding programmes use somatic cell count and clinical mastitis cases as resistance traits. However, these methods of selection have met with limited success. This is partly due to the complex nature of the disease. The limited progress in improving udder health by conventional selection procedures requires applying information on molecular markers of mastitis susceptibility in marker-assisted selection schemes. Mastitis is under polygenic control, so there are many genes that control this trait in many loci. This review briefly describes genome-wide association studies which have been carried out to identify quantitative trait loci associated with mastitis resistance in dairy cattle worldwide. It also characterizes the candidate gene approach focus on identifying genes that are strong candidates for the mastitis resistance trait. In the conclusion of the paper we focus our attention on future research which should be conducted in the field of the resistance to mastitis.

scholarly journals Host Genetics and Gut Microbiome: Perspectives for Multiple Sclerosis

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1181
Author(s):  
Alessandro Maglione ◽  
Miriam Zuccalà ◽  
Martina Tosi ◽  
Marinella Clerico ◽  
Simona Rolla
Keyword(s):  
Multiple Sclerosis ◽  
Environmental Factors ◽  
Lupus Erythematosus ◽  
Gut Microbiome ◽  
Complex Disease ◽  
Current Knowledge ◽  
Association Studies ◽  
Future Research ◽  
Genome Wide Association Studies ◽  
Host Genetics

As a complex disease, Multiple Sclerosis (MS)’s etiology is determined by both genetic and environmental factors. In the last decade, the gut microbiome has emerged as an important environmental factor, but its interaction with host genetics is still unknown. In this review, we focus on these dual aspects of MS pathogenesis: we describe the current knowledge on genetic factors related to MS, based on genome-wide association studies, and then illustrate the interactions between the immune system, gut microbiome and central nervous system in MS, summarizing the evidence available from Experimental Autoimmune Encephalomyelitis mouse models and studies in patients. Finally, as the understanding of influence of host genetics on the gut microbiome composition in MS is in its infancy, we explore this issue based on the evidence currently available from other autoimmune diseases that share with MS the interplay of genetic with environmental factors (Inflammatory Bowel Disease, Rheumatoid Arthritis and Systemic Lupus Erythematosus), and discuss avenues for future research.

scholarly journals Four Loci Are Associated with Cardiorespiratory Fitness and Endurance Performance in Young Chinese Females

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Ying Zhao ◽  
Guoyuan Huang ◽  
Zuosong Chen ◽  
Xiang Fan ◽  
Tao Huang ◽  
...  
Keyword(s):  
Cardiorespiratory Fitness ◽  
Association Studies ◽  
Endurance Performance ◽  
Young Female ◽  
Future Research ◽  
Genome Wide Association Studies ◽  
Genetic Trait ◽  
Young Females ◽  
Genome Wide ◽  
Fixed Model

AbstractCardiorespiratory fitness (CRF) and endurance performance are characterized by a complex genetic trait with high heritability. Although research has identified many physiological and environmental correlates with CRF, the genetic architecture contributing to CRF remains unclear, especially in non-athlete population. A total of 762 Chinese young female participants were recruited and an endurance run test was used to determine CRF. We used a fixed model of genome-wide association studies (GWAS) for CRF. Genotyping was performed using the Affymetrix Axiom and illumina 1 M arrays. After quality control and imputation, a linear regression-based association analysis was conducted using a total of 5,149,327 variants. Four loci associated with CRF were identified to reach genome-wide significance (P < 5.0 × 10-8), which located in 15q21.3 (rs17240160, P = 1.73 × 10-9, GCOM1), 3q25.31 (rs819865, P = 8.56 × 10-9, GMPS), 21q22.3 (rs117828698, P = 9.59 × 10-9, COL18A1), and 17q24.2 (rs79806428, P = 3.85 × 10-8, PRKCA). These loci (GCOM1, GMPS, COL18A1 and PRKCA) associated with cardiorespiratory fitness and endurance performance in Chinese non-athlete young females. Our results suggest that these gene polymorphisms provide further genetic evidence for the polygenetic nature of cardiorespiratory endurance and be used as genetic biomarkers for future research.

Making the Case

2020 ◽  
pp. 29-56
Author(s):  
Richard McCarty
Keyword(s):  
Mental Disorders ◽  
Stressful Life Events ◽  
Association Studies ◽  
Genome Wide Association Studies ◽  
Psychiatric Genetics ◽  
Nucleotide Polymorphisms ◽  
Individual Genome ◽  
Diagnostic Categories ◽  
Genome Wide ◽  
Research Findings

Genome-wide association studies (GWAS) have revolutionized the field of psychiatric genetics by examining genetic variation at millions of single-nucleotide polymorphisms (SNPs) in many thousands of individual genome using microarrays. The sample sizes for these studies range from tens of thousands on up. Results to date from GWAS have called into question the validity of current diagnostic categories in psychiatry. For example, there may be some level of genetic risk that is shared across many psychiatric disorders, with the final symptom clusters of a given disorder being shaped by other genetic, epigenetic, and environmental variables. Research findings on three mental disorders are evaluated to make the case that stressful life events play a crucial role in the etiology of mental disorders. The mental disorders discussed include schizophrenia, bipolar disorder, and depression. These findings set the stage for the remainder of the book.

Adolescent Idiopathic Scoliosis – Future Molecular-Based Diagnostic and Prognostic Testing

2019 ◽  
Vol 21 (4) ◽  
pp. 253-260
Author(s):  
Radoslav Zamborský ◽  
Boris Liščák ◽  
Martin Trepáč ◽  
Andrey Švec ◽  
Ľuboš Danisovič
Keyword(s):  
Adolescent Idiopathic Scoliosis ◽  
Idiopathic Scoliosis ◽  
Association Studies ◽  
Three Dimensional ◽  
Reliability And Validity ◽  
Genome Project ◽  
Genome Wide Association Studies ◽  
Appropriate Treatment ◽  
Surgical Treatments ◽  
The Human Genome Project

Adolescent idiopathic scoliosis (AIS) is a three-dimensional deformity of the spine mainly affecting the younger population. Earlier detection of the disorder leads to appropriate treatment and better outcomes, thus avoiding highly invasive surgical treatments. The currently available tests for the disease identification have lost their reliability and validity with time. In the past few decades, efforts have been directed towards developing a highly reliable prognostic test for AIS. Towards this end, several strategies have been employed including biochemical, biomechanical and gene-based tests. Among the three, the gene-based technology has received much attention in recent past. Notably, this is due to the fact that the human genome project, followed by genome-wide association studies (GWAS), facilitated the identification of candidate genes for disorders like AIS. Several promising biomarker genes have been identified. However, their global validations were disappointing as these genes were shown to be limited to a particular group of people/ethnicities. Such observations limit the development of a reliable global molecular/biochemical test for AIS. The currently used AIS ScoliScoreTM also has several limitations. With continued disappointments in the identification of biomarkers for AIS and lack of appropriate tests, researchers have diverted their efforts towards several alternative avenues. A ray of hope is emerging from recent observations on the association of non-coding microRNAs and epigenetic factors that might arise as future reliable markers for AIS, thus paving the way for appropriate clinical management of this disorder.

Pathophysiology and genetic factors in moyamoya disease

2009 ◽  
Vol 26 (4) ◽  
pp. E4 ◽  
Author(s):  
Achal S. Achrol ◽  
Raphael Guzman ◽  
Marco Lee ◽  
Gary K. Steinberg
Keyword(s):  
Moyamoya Disease ◽  
Genetic Factors ◽  
Association Studies ◽  
Vascular Anomalies ◽  
Future Research ◽  
Incomplete Penetrance ◽  
Genome Wide Association Studies ◽  
Research Directions ◽  
Genome Wide ◽  
Future Research Directions

Moyamoya disease is an uncommon cerebrovascular condition characterized by progressive stenosis of the bilateral internal carotid arteries with compensatory formation of an abnormal network of perforating blood vessels providing collateral circulation. The etiology and pathogenesis of moyamoya disease remain unclear. Evidence from histological studies, proteomics, and endothelial progenitor cell analyses suggests new theories underlying the cause of vascular anomalies, including moyamoya disease. Familial moyamoya disease has been noted in as many as 15% of patients, indicating an autosomal dominant inheritance pattern with incomplete penetrance. Genetic analyses in familial moyamoya disease and genome-wide association studies represent promising strategies for elucidating the pathophysiology of this condition. In this review, the authors discuss recent studies that have investigated possible mechanisms underlying the etiology of moyamoya disease, including stem cell involvement and genetic factors. They also discuss future research directions that promise not only to offer new insights into the origin of moyamoya disease but to enhance our understanding of new vessel formation in the CNS as it relates to stroke, vascular anomalies, and tumor growth.

scholarly journals Genetic Markers of Differential Vulnerability to Sleep Loss in Adults

Genes ◽  
2021 ◽  
Vol 12 (9) ◽  
pp. 1317
Author(s):  
Courtney E. Casale ◽  
Namni Goel
Keyword(s):  
Sleep Deprivation ◽  
Genetic Markers ◽  
Clock Genes ◽  
Association Studies ◽  
Sleep Loss ◽  
Future Research ◽  
Candidate Gene Approach ◽  
Genome Wide Association Studies ◽  
Recovery Sleep ◽  
Differential Vulnerability

In this review, we discuss reports of genotype-dependent interindividual differences in phenotypic neurobehavioral responses to total sleep deprivation or sleep restriction. We highlight the importance of using the candidate gene approach to further elucidate differential resilience and vulnerability to sleep deprivation in humans, although we acknowledge that other omics techniques and genome-wide association studies can also offer insights into biomarkers of such vulnerability. Specifically, we discuss polymorphisms in adenosinergic genes (ADA and ADORA2A), core circadian clock genes (BHLHE41/DEC2 and PER3), genes related to cognitive development and functioning (BDNF and COMT), dopaminergic genes (DRD2 and DAT), and immune and clearance genes (AQP4, DQB1*0602, and TNFα) as potential genetic indicators of differential vulnerability to deficits induced by sleep loss. Additionally, we review the efficacy of several countermeasures for the neurobehavioral impairments induced by sleep loss, including banking sleep, recovery sleep, caffeine, and naps. The discovery of reliable, novel genetic markers of differential vulnerability to sleep loss has critical implications for future research involving predictors, countermeasures, and treatments in the field of sleep and circadian science.

Polymorphisms Affecting Trace Element Bioavailability

2010 ◽  
Vol 80 (45) ◽  
pp. 314-318 ◽  
Author(s):  
John C. Mathers ◽  
Catherine Méplan ◽  
John E. Hesketh
Keyword(s):  
Trace Element ◽  
Individual Variation ◽  
Association Studies ◽  
Copy Number Variants ◽  
Micro Rna ◽  
Future Research ◽  
Genome Wide Association Studies ◽  
Complex Interactions ◽  
Genome Wide ◽  
Genes Encoding

This review outlines the nature of inter-individual variation in trace element bioavailability, focusing on genetic and epigenetic determinants. We note that pathogenic mutations responsible for dangerously high (or low) status for the micronutrient are unlikely to make large contributions to variability in bioavailability among the general population. Prospective genotyping (for variants in genes encoding selenoproteins) of participants in human studies illustrate one approach to understanding the complex interactions between genotype and trace element supply, which determine the functional bioavailability of selenium. Rapid advances in technological and bioinformatics tools; e. g., as used in Genome-Wide Association Studies, are opening new avenues for research on the genetic determinants of inter-individual variation in trace element bioavailability. This may include copy number variants in addition to the more widely studied polymorphisms. Future research on trace element bioavailability should encompass studies of epigenetic variants, including the role of non-coding (micro) RNA.

Brain imaging genomics: influences of genomic variability on the structure and function of the human brain

2020 ◽  
Vol 32 (1) ◽  
pp. 47-56
Author(s):  
Thomas W. Mühleisen ◽  
Andreas J. Forstner ◽  
Per Hoffmann ◽  
Sven Cichon
Keyword(s):  
Brain Imaging ◽  
Complex Traits ◽  
Molecular Mechanisms ◽  
Association Studies ◽  
Phenotypic Variability ◽  
Effect Sizes ◽  
Future Research ◽  
Environment Interaction ◽  
Genome Wide Association Studies ◽  
Imaging Genomics

Abstract Brain imaging genomics is an emerging discipline in which genomic and brain imaging data are integrated in order to elucidate the molecular mechanisms that underly brain phenotypes and diseases, including neuropsychiatric disorders. As with all genetic analyses of complex traits and diseases, brain imaging genomics has evolved from small, individual candidate gene investigations towards large, collaborative genome-wide association studies. Recent investigations, mostly population-based, have studied well-powered cohorts comprising tens of thousands of individuals and identified multiple robust associations of single-nucleotide polymorphisms and copy number variants with structural and functional brain phenotypes. Such systematic genomic screens of millions of genetic variants have generated initial insights into the genetic architecture of brain phenotypes and demonstrated that their etiology is polygenic in nature, involving multiple common variants with small effect sizes and rare variants with larger effect sizes. Ongoing international collaborative initiatives are now working to obtain a more complete picture of the underlying biology. As in other complex phenotypes, novel approaches – such as gene–gene interaction, gene–environment interaction, and epigenetic analyses – are being implemented in order to investigate their contribution to the observed phenotypic variability. An important consideration for future research will be the translation of brain imaging genomics findings into clinical practice.

Sign in / Sign up

Export Citation Format

Share Document