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David A Kalmbach, Logan D Schneider, Joseph Cheung, Sarah J Bertrand, Thiruchelvam Kariharan, Allan I Pack, Philip R Gehrman
Study Objectives: Chronotype, or diurnal preference, refers to behavioral manifestations of the endogenous circadian system that governs preferred timing of sleep and wake. As variations in circadian timing and system perturbations are linked to disease development, the fundamental biology of chronotype has received attention for its role in the regulation and dysregulation of sleep and related illnesses. Family studies indicate that chronotype is a heritable trait, thus directing attention toward its genetic basis...
February 1, 2017: Sleep
Katherine J Ransohoff, Wenting Wu, Hyunje G Cho, Harvind C Chahal, Yuan Lin, Hong-Ji Dai, Christopher I Amos, Jeffrey E Lee, Jean Y Tang, David A Hinds, Jiali Han, Qingyi Wei, Kavita Y Sarin
Genome-wide association studies have identified 21 susceptibility loci associated with melanoma. These loci implicate genes affecting pigmentation, nevus count, telomere maintenance, and DNA repair in melanoma risk. Here, we report the results of a two-stage genome-wide association study of melanoma. The stage 1 discovery phase consisted of 4,842 self-reported melanoma cases and 286,565 controls of European ancestry from the 23andMe research cohort and the stage 2 replication phase consisted of 1,804 melanoma cases and 1,026 controls from the University of Texas M...
March 14, 2017: Oncotarget
Jennifer Abbasi
No abstract text is available yet for this article.
January 3, 2017: JAMA: the Journal of the American Medical Association
Stacy W Gray, Sarah E Gollust, Deanna Alexis Carere, Clara A Chen, Angel Cronin, Sarah S Kalia, Huma Q Rana, Mack T Ruffin, Catharine Wang, J Scott Roberts, Robert C Green
Purpose Significant concerns exist regarding the potential for unwarranted behavior changes and the overuse of health care resources in response to direct-to-consumer personal genomic testing (PGT). However, little is known about customers' behaviors after PGT. Methods Longitudinal surveys were given to new customers of 23andMe (Mountain View, CA) and Pathway Genomics (San Diego, CA). Survey data were linked to individual-level PGT results through a secure data transfer process. Results Of the 1,042 customers who completed baseline and 6-month surveys (response rate, 71...
February 20, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
David A Kalmbach, Logan D Schneider, Joseph Cheung, Sarah J Bertrand, Thiruchelvam Kariharan, Allan I Pack, Philip R Gehrman
Chronotype, or diurnal preference, refers to behavioral manifestations of the endogenous circadian system that governs preferred timing of sleep and wake. As variations in circadian timing and system perturbations are linked to disease development, the fundamental biology of chronotype has received attention for its role in the regulation and dysregulation of sleep and related medical and psychiatric illnesses. Twin and family studies have shown that chronotype is a heritable trait, thus directing attention toward its genetic basis...
October 28, 2016: Sleep
Ashley L Silvia, Nathan Shugarts, Jenifer Smith
The ForenSeq™ FGx System (Illumina, San Diego, CA) was initially evaluated in concordance with SWGDAM guidelines for internal validation to determine the quality of the system's components: the ForenSeq™ DNA Signature Prep Kit reagents, the MiSeq FGx™ instrument, and the ForenSeq™ Universal Analysis Software, for the analysis of targeted, forensically informative single nucleotide polymorphisms (SNPs) and short tandem repeats (STRs). This multiplex consisted of STRs (autosomal, X, and Y) and SNPs (identity, ancestry, and phenotypic) that were run using one preparation process...
January 2017: International Journal of Legal Medicine
Q S Li, C Tian, G R Seabrook, W C Drevets, V A Narayan
Genetic predisposition may contribute to the differences in drug-specific, class-specific or antidepressant-wide treatment resistance. Clinical studies with the genetic data are often limited in sample sizes. Drug response obtained from self-reports may offer an alternative approach to conduct a study with much larger sample size. Using the phenotype data collected from 23andMe 'Antidepressant Efficacy and Side Effects' survey and genotype data from 23andMe's research participants, we conducted genome-wide association study (GWAS) on subjects of European ancestry using four groups of phenotypes (a) non-treatment-resistant depression (n=7795) vs treatment-resistant depression (TRD, n=1311), (b) selective serotonin reuptake inhibitors (SSRI) responders (n=6348) vs non-responders (n=3340), (c) citalopram/escitalopram responders (n=2963) vs non-responders (n=2005), and (d) norepinephrine-dopamine reuptake inhibitor (NDRI, bupropion) responders (n=2675) vs non-responders (n=1861)...
September 13, 2016: Translational Psychiatry
Emily Olfson, Sarah Hartz, Deanna Alexis Carere, Robert C Green, J Scott Roberts, Laura J Bierut
INTRODUCTION: Direct-to-consumer personal genomic testing has the potential to influence health behaviors, including smoking. Critics of this testing highlight limited evidence to support positive behavioral benefits and caution that genomic results may provide false reassurance, leading to unhealthy behaviors. This study investigates interest in genetic risks of smoking-related diseases and changes in smoking behaviors among genomic testing consumers. METHODS: From 2012 to 2013, a longitudinal series of web surveys was conducted...
December 2016: Nicotine & Tobacco Research: Official Journal of the Society for Research on Nicotine and Tobacco
Amber Frick, Cristina S Benton, Kelly L Scolaro, Jacqueline E McLaughlin, Courtney L Bradley, Oscar T Suzuki, Nan Wang, Tim Wiltshire
Pharmacogenomics, once hailed as a futuristic approach to pharmacotherapy, has transitioned to clinical implementation. Although logistic and economic limitations to clinical pharmacogenomics are being superseded by external measures such as preemptive genotyping, implementation by clinicians has met resistance, partly due to a lack of education. Pharmacists, with extensive training in pharmacology and pharmacotherapy and accessibility to patients, are ideally suited to champion clinical pharmacogenomics. This study aimed to analyze the outcomes of an innovative pharmacogenomic teaching approach...
2016: Frontiers in Pharmacology
Eran Elhaik
The debate as to whether Jewishness is a biological trait inherent from an "authentic" "Jewish type" (jüdische Typus) ancestor or a system of beliefs has been raging for over two centuries. While the accumulated biological and anthropological evidence support the latter argument, recent genetic findings, bolstered by the direct-to-consumer genetic industry, purport to identify Jews or quantify one's Jewishness from genomic data. To test the merit of claims that Jews and non-Jews are genetically distinguishable, we propose a benchmark where genomic data of Jews and non-Jews are hybridized over two generations and the observed and predicted Jewishness of the terminal offspring according to either the Orthodox religious law (Halacha) or the Israeli Law of Return are compared...
2016: Frontiers in Genetics
Samuel E Jones, Jessica Tyrrell, Andrew R Wood, Robin N Beaumont, Katherine S Ruth, Marcus A Tuke, Hanieh Yaghootkar, Youna Hu, Maris Teder-Laving, Caroline Hayward, Till Roenneberg, James F Wilson, Fabiola Del Greco, Andrew A Hicks, Chol Shin, Chang-Ho Yun, Seung Ku Lee, Andres Metspalu, Enda M Byrne, Philip R Gehrman, Henning Tiemeier, Karla V Allebrandt, Rachel M Freathy, Anna Murray, David A Hinds, Timothy M Frayling, Michael N Weedon
Disrupted circadian rhythms and reduced sleep duration are associated with several human diseases, particularly obesity and type 2 diabetes, but until recently, little was known about the genetic factors influencing these heritable traits. We performed genome-wide association studies of self-reported chronotype (morning/evening person) and self-reported sleep duration in 128,266 white British individuals from the UK Biobank study. Sixteen variants were associated with chronotype (P<5x10-8), including variants near the known circadian rhythm genes RGS16 (1...
August 2016: PLoS Genetics
Craig L Hyde, Michael W Nagle, Chao Tian, Xing Chen, Sara A Paciga, Jens R Wendland, Joyce Y Tung, David A Hinds, Roy H Perlis, Ashley R Winslow
Despite strong evidence supporting the heritability of major depressive disorder (MDD), previous genome-wide studies were unable to identify risk loci among individuals of European descent. We used self-report data from 75,607 individuals reporting clinical diagnosis of depression and 231,747 individuals reporting no history of depression through 23andMe and carried out meta-analysis of these results with published MDD genome-wide association study results. We identified five independent variants from four regions associated with self-report of clinical diagnosis or treatment for depression...
September 2016: Nature Genetics
Kayte Spector-Bagdady
PURPOSE: 23andMe is back on the market as the first direct-to-consumer genetic testing company that "includes reports that meet Food and Drug Administration (FDA) standards…." But, whereas its front-end product is selling individual genetic tests online, its back-end business model is amassing one of the largest privately owned genetic databases in the world. What is the effect, however, of the private control of bio/databases on genetic epidemiology and public health research? METHODS: The recent federal government notices of proposed rulemaking for: (1) revisions to regulations governing human subjects research and (2) whether certain direct-to-consumer genetic tests should require premarket FDA review, were reviewed and related to the 23andMe product, business model, and consumer agreements...
July 2016: Annals of Epidemiology
Bertrand Jordan
A Genome Wide Association Study on propensity to motion sickness published by 23andMe gives interesting results, shows validity for self-reported phenotypic information and underlines the value of the model developed by the company for customer participation in genetic studies.
May 2016: Médecine Sciences: M/S
Henri-Corto Stoeklé, Marie-France Mamzer-Bruneel, Guillaume Vogt, Christian Hervé
BACKGROUND: Since 2006, the genetic testing company 23andMe has collected biological samples, self-reported information, and consent documents for biobanking and research from more than 1,000,000 individuals (90% participating in research), through a direct-to-consumer (DTC) online genetic-testing service providing a genetic ancestry report and a genetic health report. However, on November 22, 2013, the Food and Drug Administration (FDA) halted the sale of genetic health testing, on the grounds that 23andMe was not acting in accordance with federal law, by selling tests of undemonstrated reliability as predictive tests for medical risk factors...
March 31, 2016: BMC Medical Ethics
Scott P McGrath, Jason Coleman, Lotfollah Najjar, Ann Fruhling, Dhundy R Bastola
AIM: The aim of this study was to evaluate current direct-to-consumer (DTC) genetic customers' ability to interpret and comprehend test results and to determine if honest brokers are needed. METHOD: One hundred and twenty-two customers of the DTC genetic testing company 23andMe were polled in an online survey. The subjects were asked about their personal test results and to interpret the results of two mock test cases (type 2 diabetes and multiple sclerosis), where results were translated into disease probability for an individual compared to the public...
2016: Public Health Genomics
David A Hinds, Alfonso Buil, Daniel Ziemek, Angel Martinez-Perez, Rainer Malik, Lasse Folkersen, Marine Germain, Anders Mälarstig, Andrew Brown, Jose Manuel Soria, Martin Dichgans, Nan Bing, Anders Franco-Cereceda, Juan Carlos Souto, Emmanouil T Dermitzakis, Anders Hamsten, Bradford B Worrall, Joyce Y Tung, Maria Sabater-Lleal
Thrombotic diseases are among the leading causes of morbidity and mortality in the world. To add insights into the genetic regulation of thrombotic disease, we conducted a genome-wide association study (GWAS) of 6135 self-reported blood clots events and 252 827 controls of European ancestry belonging to the 23andMe cohort of research participants. Eight loci exceeded genome-wide significance. Among the genome-wide significant results, our study replicated previously known venous thromboembolism (VTE) loci near the F5, FGA-FGG, F11, F2, PROCR and ABO genes, and the more recently discovered locus near SLC44A2 In addition, our study reports for the first time a genome-wide significant association between rs114209171, located upstream of the F8 structural gene, and thrombosis risk...
May 1, 2016: Human Molecular Genetics
Natalie M Baptista, Kurt D Christensen, Deanna Alexis Carere, Simon A Broadley, J Scott Roberts, Robert C Green
PURPOSE: American adult adoptees may possess limited information about their biological families and turn to direct-to-consumer personal genomic testing (PGT) for genealogical and medical information. We investigated the motivations and outcomes of adoptees undergoing PGT using data from the Impact of Personal Genomics (PGen) Study. METHODS: The PGen Study surveyed new 23andMe and Pathway Genomics customers before and 6 months after receiving PGT results. Exploratory analyses compared adoptees' and nonadoptees' PGT attitudes, expectations, and experiences...
September 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Deborah Levenson
No abstract text is available yet for this article.
February 2016: American Journal of Medical Genetics. Part A
Eric Vallabh Minikel, Sonia M Vallabh, Monkol Lek, Karol Estrada, Kaitlin E Samocha, J Fah Sathirapongsasuti, Cory Y McLean, Joyce Y Tung, Linda P C Yu, Pierluigi Gambetti, Janis Blevins, Shulin Zhang, Yvonne Cohen, Wei Chen, Masahito Yamada, Tsuyoshi Hamaguchi, Nobuo Sanjo, Hidehiro Mizusawa, Yosikazu Nakamura, Tetsuyuki Kitamoto, Steven J Collins, Alison Boyd, Robert G Will, Richard Knight, Claudia Ponto, Inga Zerr, Theo F J Kraus, Sabina Eigenbrod, Armin Giese, Miguel Calero, Jesús de Pedro-Cuesta, Stéphane Haïk, Jean-Louis Laplanche, Elodie Bouaziz-Amar, Jean-Philippe Brandel, Sabina Capellari, Piero Parchi, Anna Poleggi, Anna Ladogana, Anne H O'Donnell-Luria, Konrad J Karczewski, Jamie L Marshall, Michael Boehnke, Markku Laakso, Karen L Mohlke, Anna Kähler, Kimberly Chambert, Steven McCarroll, Patrick F Sullivan, Christina M Hultman, Shaun M Purcell, Pamela Sklar, Sven J van der Lee, Annemieke Rozemuller, Casper Jansen, Albert Hofman, Robert Kraaij, Jeroen G J van Rooij, M Arfan Ikram, André G Uitterlinden, Cornelia M van Duijn, Mark J Daly, Daniel G MacArthur
More than 100,000 genetic variants are reported to cause Mendelian disease in humans, but the penetrance-the probability that a carrier of the purported disease-causing genotype will indeed develop the disease-is generally unknown. We assess the impact of variants in the prion protein gene (PRNP) on the risk of prion disease by analyzing 16,025 prion disease cases, 60,706 population control exomes, and 531,575 individuals genotyped by 23andMe Inc. We show that missense variants in PRNP previously reported to be pathogenic are at least 30 times more common in the population than expected on the basis of genetic prion disease prevalence...
January 20, 2016: Science Translational Medicine
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