Read by QxMD icon Read


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)...
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...
July 12, 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 Although logistic and economic limitations to clinical pharmacogenomics are being superseded by external measures such as preemptive genotyping, implementation by clinicians has met resistance, partly due to a lack of education.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...
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
Rajeswari Swaminathan, Yungui Huang, Soheil Moosavinasab, Ronald Buckley, Christopher W Bartlett, Simon M Lin
The constant improvement and falling prices of whole human genome Next Generation Sequencing (NGS) has resulted in rapid adoption of genomic information at both clinics and research institutions. Considered together, the complexity of genomics data, due to its large volume and diversity along with the need for genomic data sharing, has resulted in the creation of Application Programming Interface (API) for secure, modular, interoperable access to genomic data from different applications, platforms, and even organizations...
2016: Computational and Structural Biotechnology Journal
Laura DeFrancesco
No abstract text is available yet for this article.
December 9, 2015: Nature Biotechnology
Deanna Alexis Carere, Tyler VanderWeele, Tanya A Moreno, Joanna L Mountain, J Scott Roberts, Peter Kraft, Robert C Green
BACKGROUND: Direct access to genomic information has the potential to transform cancer risk counseling. We measured the impact of direct-to-consumer genomic risk information on changes to perceived risk (ΔPR) of breast, prostate, colorectal and lung cancer among personal genomic testing (PGT) customers. We hypothesized that ΔPR would reflect directionality of risk estimates, attenuate with time, and be modified by participant characteristics. METHODS: Pathway Genomics and 23andMe customers were surveyed prior to receiving PGT results, and 2 weeks and 6 months post-results...
October 15, 2015: BMC Medical Genomics
Mike A Nalls, Cory Y McLean, Jacqueline Rick, Shirley Eberly, Samantha J Hutten, Katrina Gwinn, Margaret Sutherland, Maria Martinez, Peter Heutink, Nigel M Williams, John Hardy, Thomas Gasser, Alexis Brice, T Ryan Price, Aude Nicolas, Margaux F Keller, Cliona Molony, J Raphael Gibbs, Alice Chen-Plotkin, Eunran Suh, Christopher Letson, Massimo S Fiandaca, Mark Mapstone, Howard J Federoff, Alastair J Noyce, Huw Morris, Vivianna M Van Deerlin, Daniel Weintraub, Cyrus Zabetian, Dena G Hernandez, Suzanne Lesage, Meghan Mullins, Emily Drabant Conley, Carrie A M Northover, Mark Frasier, Ken Marek, Aaron G Day-Williams, David J Stone, John P A Ioannidis, Andrew B Singleton
BACKGROUND: Accurate diagnosis and early detection of complex diseases, such as Parkinson's disease, has the potential to be of great benefit for researchers and clinical practice. We aimed to create a non-invasive, accurate classification model for the diagnosis of Parkinson's disease, which could serve as a basis for future disease prediction studies in longitudinal cohorts. METHODS: We developed a model for disease classification using data from the Parkinson's Progression Marker Initiative (PPMI) study for 367 patients with Parkinson's disease and phenotypically typical imaging data and 165 controls without neurological disease...
October 2015: Lancet Neurology
Shelin Adam, Jan M Friedman
No abstract text is available yet for this article.
April 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Manal Almalki, Kathleen Gray, Fernando Martin Sanchez
BACKGROUND: Self-quantification is seen as an emerging paradigm for health care self-management. Self-quantification systems (SQS) can be used for tracking, monitoring, and quantifying health aspects including mental, emotional, physical, and social aspects in order to gain self-knowledge. However, there has been a lack of a systematic approach for conceptualising and mapping the essential activities that are undertaken by individuals who are using SQS in order to improve health outcomes...
2015: Health Information Science and Systems
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"