Consent and Autonomy in the Genomics Era
AbstractPurpose of ReviewGenomic tests offer increased opportunity for diagnosis, but their outputs are often uncertain and complex; results may need to be revised and/or may not be relevant until some future time. We discuss the challenges that this presents for consent and autonomy.Recent FindingsPopular discourse around genomic testing tends to be strongly deterministic and optimistic, yet many findings from genomic tests are uncertain or unclear. Clinical conversations need to anticipate and potentially challenge unrealistic expectations of what a genomic test can deliver in order to enhance autonomy and ensure that co...
Source: Current Genetic Medicine Reports - May 1, 2019 Category: Genetics & Stem Cells Source Type: research
GWAS and Beyond: Using Omics Approaches to Interpret SNP Associations
AbstractPurpose of ReviewNeurodegenerative diseases, neuropsychiatric disorders, and related traits have highly complex etiologies but are also highly heritable; identifying the causal genes and biological pathways underlying these traits may advance the development of treatments and preventive strategies. While many genome-wide association studies (GWAS) have successfully identified variants contributing to polygenic neurodegenerative and neuropsychiatric phenotypes including Alzheimer ’s disease (AD), schizophrenia (SCZ), and bipolar disorder (BPD) among others, interpreting the biological roles of significantly associ...
Source: Current Genetic Medicine Reports - February 14, 2019 Category: Genetics & Stem Cells Source Type: research
Benefits and Challenges of Rare Genetic Variation in Alzheimer ’s Disease
AbstractPurpose of ReviewIt is well established that sporadic Alzheimer ’s disease (AD) is polygenic with common and rare genetic variation alongside environmental factors contributing to disease. Here, we review our current understanding of the genetic architecture of disease, paying specific attention to rare susceptibility variants, and explore some of the limitati ons in rare variant detection and analysis.Recent FindingsRare variation has been shown to robustly associate with disease. These include potentially damaging and loss of function mutations that are easily modelled in silico, in vitro and in vivo, and repre...
Source: Current Genetic Medicine Reports - February 1, 2019 Category: Genetics & Stem Cells Source Type: research
Recent Advances in the Genetics of Frontotemporal Dementia
AbstractPurpose of ReviewIn this review, we highlight recent advances in the human genetics of frontotemporal dementia (FTD). In addition to providing a broad survey of genes implicated in FTD in the last several years, we also discuss variation in genes implicated in both hereditary leukodystrophies and risk for FTD (e.g.,TREM2,TMEM106B,CSF1R,AARS2,NOTCH3).Recent FindingsOver the past 5 years, genetic variation in approximately 50 genes has been confirmed or suggested to cause or influence risk for FTD and FTD-spectrum disorders. We first give background and discuss recent findings related toC9ORF72,GRN, andMAPT, the ge...
Source: Current Genetic Medicine Reports - January 30, 2019 Category: Genetics & Stem Cells Source Type: research
Protective Variants in Alzheimer ’s Disease
AbstractPurpose of ReviewOver the last decade, over 40 loci have been associated with risk of Alzheimer ’s disease (AD). However, most studies have either focused on identifying risk loci or performing unbiased screens without a focus on protective variation in AD. Here, we provide a review of known protective variants in AD and their putative mechanisms of action. Additionally, we recommend strateg ies for finding new protective variants.Recent FindingsRecent Genome-Wide Association Studies have identified both common and rare protective variants associated with AD. These include variants in or nearAPP,APOE,PLCG2,MS4A,M...
Source: Current Genetic Medicine Reports - January 24, 2019 Category: Genetics & Stem Cells Source Type: research
Sex Differences in the Genetic Architecture of Alzheimer ’s Disease
AbstractPurpose of ReviewSummarize sex-specific contributors to the genetic architecture of Alzheimer ’s disease (AD).Recent FindingsThere are sex differences in the effects of apolipoprotein E (APOE), genes along theAPOE pathway, and genes along the neurotrophic signaling pathway in predicting AD. Reported sex differences are largely driven by stronger associations among females. Evidence also suggests that genetic predictors of amyloidosis are largely shared across sexes, while sex-specific genetic effects emerge downstream of amyloidosis and drive the clinical manifestation of AD.SummaryThere is a lack of comprehensiv...
Source: Current Genetic Medicine Reports - January 21, 2019 Category: Genetics & Stem Cells Source Type: research
Polygenic Risk Scores in Neurodegenerative Diseases: a Review
AbstractPurpose of the ReviewThis review summarizes the current state of the art of polygenic risk scores (PRSs) in the assessment of risk for neurodegenerative diseases.Recent FindingsPolygenic risk scores have been used to identify the shared genetic architecture between comorbid complex traits, disease presentations, and disease endophenotypes.SummaryThe pathological and symptomatologic overlap between neurodegenerative diseases is strikingly high. In some cases, the diagnostic decision is arbitrary depending on the first appearance of symptomatology. Genetic studies have demonstrated that the genetic architecture of ea...
Source: Current Genetic Medicine Reports - January 17, 2019 Category: Genetics & Stem Cells Source Type: research
A Brief Synopsis on the Genetics of Alzheimer ’s Disease
(Source: Current Genetic Medicine Reports)
Source: Current Genetic Medicine Reports - October 30, 2018 Category: Genetics & Stem Cells Source Type: research
Tipping the Scale Towards Gastric Disease: a Host-Pathogen Genomic Mismatch?
AbstractPurpose of ReviewChronic infection withHelicobacter pylori infection is necessary but not sufficient to initiate development of intestinal-type gastric adenocarcinoma. It is not clear what additional factors tip the scale from commensal bacteria towards a pathogen that facilitates development of gastric cancer. Genetic variants in both the pathogen and host have been implicated, but neither alone explains a substantial portion of disease risk.Recent FindingsIn this review, we consider studies that address the important role of human and bacterial genetics and ancestry and their interactions in determining gastric d...
Source: Current Genetic Medicine Reports - October 10, 2018 Category: Genetics & Stem Cells Source Type: research
Admixture, Genetics and Complex Diseases in Latin Americans and US Hispanics
AbstractPurpose of the ReviewWe review population and epidemiological genetics studies in Latin Americans and US Hispanics/Latinos, who are product of admixture between Europeans, Africans, and Native Americans.Recent FindingsAdmixture studies identified a Southeastern-Africa/Bantu ancestry component more prevalent in Brazil. Contrasting dynamics of Native American introgression into admixed populations were inferred:> 400 years ago in Brazil, where Native American populations were decimated afterwards, and concentrated on the last 300 years in Peru, a predominantly indigenous country. Associations have been report...
Source: Current Genetic Medicine Reports - September 29, 2018 Category: Genetics & Stem Cells Source Type: research
Micronuclei and What They Can Tell Us in Cytogenetic Diagnostics
AbstractPurpose of ReviewThe micronucleus (MN) assay is a validated method of genetic toxicology, widely used for human biomonitoring studies. This review summarizes and discusses current data regarding involvement of MN in pathogenesis of different diseases, potential of MN assay to be used as cytogenetic diagnostic technique, as well as highlights current achievements in studies concerning clinically relevant chromosomal instability using MN assay.Recent FindingsRecent studies suggested that MN are indicator of pathological events in affected as well as not affected “target” tissues of an organism. They can be effect...
Source: Current Genetic Medicine Reports - September 27, 2018 Category: Genetics & Stem Cells Source Type: research
Towards Cultural Competence in the Genomic Age: a Review of Current Health Care Provider Educational Trainings and Interventions
This article reviews the impact of cultural influences on the medical genomics and genetic counseling processes, as well as educational and interventional strategies available for health care professionals.Recent FindingsWhile cultural competence training and educational opportunities are available to most health care providers, there is limited published literature on the utilization and effectiveness of these interventions. Recent reviews acknowledge the equal importance of awareness, knowledge, and skills within cultural competence training and interventions; however, there is a lack of understanding of how a cultural c...
Source: Current Genetic Medicine Reports - September 26, 2018 Category: Genetics & Stem Cells Source Type: research
