Published on 08/09/2018
Human Genomics across the Lifespan
Birth Defects and Child Health
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Information needs in genetic testing: A needs assessment survey among Taiwanese parents of children with autism spectrum disorders.
Chen Lei-Shih et al. Autism : the international journal of research and practice 2018 Aug 1362361318778903 -
Identifying the educational needs of physicians in pediatric epilepsy in order to improve care: results from a needs assessment in Germany, Spain, and the United States.
Murray Suzanne et al. Epileptic disorders : international epilepsy journal with videotape 2018 Aug -
She had a lot of rashes, but dont all kids?
SG Boodman, Washington Post, July 2018 -
High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia.
Kang Ce et al. Cerebellum (London, England) 2018 Aug -
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Yan et al. Scientific reports 2018 Aug 8(1) 11646 -
Peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomic technology.
Wojcik Monica H et al. Journal of perinatology : official journal of the California Perinatal Association 2018 Aug
Cancer
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Broad-Based Molecular Testing for Lung Cancer: Precisely the Time for Precision.
Bunn Paul A et al. JAMA 2018 Aug 320(5) 445-446 -
The Genetic Test Some Men Dont Know They Need- Women are far more likely to get tested for inherited BRCA and other gene mutations, even though they also pose a cancer risk for men and their children
AD MArcus, WSJ, August 7, 2018 -
Accuracy of Risk Prediction Models for Breast Cancer and BRCA1/BRCA2 Mutation Carrier Probabilities in Israel.
Kenan Efrat Schwarz et al. Anticancer research 2018 Aug 38(8) 4557-4563 -
Association of Broad-Based Genomic Sequencing With Survival Among Patients With Advanced Non-Small Cell Lung Cancer in the Community Oncology Setting.
Presley Carolyn J et al. JAMA 2018 Aug 320(5) 469-477 -
Identification and characterization of TP53 gene Allele Dropout in Li-Fraumeni syndrome and Oral cancer cohorts.
Haque Mohammed Moquitul et al. Scientific reports 2018 Aug 8(1) 11705 -
Male Breast Cancer in the Age of Genetic Testing: An Opportunity for Early Detection, Tailored Therapy, and Surveillance.
Gao Yiming et al. Radiographics : a review publication of the Radiological Society of North America, Inc 2018 Aug 180013 -
Impact of Genomic Assay Testing and Clinical Factors on Chemotherapy Use After Implementation of Standardized Testing Criteria.
Natsuhara Kelsey H et al. The oncologist 2018 Aug -
Uncertainty in consultations about genetic testing for cancer: an explorative observational study.
Medendorp Niki M et al. Patient education and counseling 2018 Aug -
Tumor Molecular Testing Guides Anti-PD-1 Therapy and Provides Evidence for Pathogenicity of Mismatch Repair Variants.
Patel Shyam A et al. The oncologist 2018 Aug -
MicroRNA in diagnosis and therapy monitoring of early-stage triple-negative breast cancer.
Kahraman Mustafa et al. Scientific reports 2018 Aug 8(1) 11584 -
CLINICAL UTILITY OF PROSPECTIVE MOLECULAR CHARACTERIZATION IN ADVANCED ENDOMETRIAL CANCER.
Soumerai Tara E et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 Aug -
Immunotherapy and Hereditary Cancer
FORCE, August 2018 -
Missed opportunities: Genetic counseling and testing among an ethnically diverse cohort of women with endometrial cancer.
Lee Jessica et al. Gynecologic oncology 2018 Aug -
Management guidelines for paediatric patients receiving chimeric antigen receptor T cell therapy.
Mahadeo Kris M et al. Nature reviews. Clinical oncology 2018 Aug -
Researchers discover gene mutations linked with aggressive breast cancer
A Scher, NBC News, August 6, 2018 -
Plan to replicate 50 high-impact cancer papers shrinks to just 18
J Kaiser, Science, July 31, 2018 -
BRCA mutation in breast cancer patients: Prognostic impact and implications on clinical management.
Loi Mauro et al. The breast journal 2018 Jul -
Integrated genomic analysis for prediction of survival for patients with liver cancer using The Cancer Genome Atlas.
Song Yan-Zhou et al. World journal of gastroenterology 2018 Jul 24(28) 3145-3154 -
Advances in molecular, genetic and immune signatures of gastric cancer: Are we ready to apply them in our patients' decision making?
Gkolfinopoulos Stavros et al. World journal of gastrointestinal oncology 2018 Jul 10(7) 172-183 -
Knowledge of Genetic Counseling Among Patients With Breast Cancer and Their Relatives at a Nigerian Teaching Hospital.
Adejumo Prisca et al. Journal of global oncology 2018 Jul (4) 1-8 -
Genotype-targeted local therapy of glioma.
Shankar Ganesh M et al. Proceedings of the National Academy of Sciences of the United States of America 2018 Aug -
Genomic biomarkers in prostate cancer.
Kornberg Zachary et al. Translational andrology and urology 2018 Jun 7(3) 459-471 -
Liquid biopsy approach in the management of prostate cancer.
Riaz Irbaz Bin et al. Translational research : the journal of laboratory and clinical medicine 2018 May -
Breast cancer and men: Gene mutations that contribute to risk can also signal prostate, pancreatic cancers
M Erickson, Star News Online, August 6, 2018 -
Identification of nine new susceptibility loci for endometrial cancer.
O'Mara Tracy A, et al. Nature communications 2018 0 0. (1) 3166 -
Researchers identify genes linked to aggressive breast cancer
B Molina, USA Today, August 7, 2018 -
Host genetic profiling to increase drug safety in colorectal cancer from discovery to implementation.
Cecchin Erika et al. Drug resistance updates : reviews and commentaries in antimicrobial and anticancer chemotherapy 2018 Jul 3918-40 -
Genetic molecular subtypes in optimizing personalized adjuvant therapy in metastatic colorectal cancer.
Wlodarczyk Marcin et al. Current drug targets 2018 Aug -
Prospective Study of Germline Genetic Testing in Incident Cases of Pancreatic Adenocarcinoma.
Brand Randall et al. Cancer 2018 Aug -
THYROSEQ ® V2.0 MOLECULAR TESTING: A COST-EFFECTIVE APPROACH FOR THE EVALUATION OF INDETERMINATE THYROID NODULES.
Rivas Ana Marcella et al. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2018 Aug -
A Phase II Clinical Trial of Molecular Profiled Neoadjuvant Therapy for Localized Pancreatic Ductal Adenocarcinoma.
Tsai Susan et al. Annals of surgery 2018 Aug
Chronic Disease
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How the evidence stacks up for preventing Alzheimer's disease.
Sohn Emily, et al. Nature 2018 0 0. (7715) S18-S20 -
An Appalachian odyssey: Hunting for ALS genes along a sprawling family tree
E Boodman, Stat News, August 5, 2018 -
Genetics, Genomics, and Precision Medicine in End-Stage Kidney Disease.
Kopp Jeffrey B et al. Seminars in nephrology 2018 Jul 38(4) 317-324 -
Personalized Management of Bone and Mineral Disorders and Precision Medicine in End-Stage Kidney Disease.
Jovanovich Anna et al. Seminars in nephrology 2018 Jul 38(4) 397-409 -
Precision Medicine and Personalized Management of Lipoprotein and Lipid Disorders in Chronic and End-Stage Kidney Disease.
Streja Elani et al. Seminars in nephrology 2018 Jul 38(4) 369-382 -
Precision Medicine for Nutritional Management in End-Stage Kidney Disease and Transition to Dialysis.
Wang Angela Yee-Moon et al. Seminars in nephrology 2018 Jul 38(4) 383-396
Ethics/Policy/Law
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Concerns Mount over Data Privacy Guidelines Set by Genetic-Testing Companies,
by Kristen V. Brown, Insurance Journal, August 3, 2018 -
Machine learning and genomics: precision medicine versus patient privacy.
Azencott C-A et al. Philosophical transactions. Series A, Mathematical, physical, and engineering sciences 2018 Sep 376(2128) -
Genetic research and consent: On the crossroads of human and data research.
Pormeister Kärt et al. Bioethics 2018 Aug -
Behind at-home DNA testing companies sharing genetic data with third parties
CBS This Morning, August 2, 2018 -
United States: law and policy concerning transfer of genomic data to third countries.
Majumder Mary Anderlik et al. Human genetics 2018 Aug -
Registered access: authorizing data access.
Dyke Stephanie O M et al. European journal of human genetics : EJHG 2018 Aug -
Genetic Tests Can Hurt Your Chances Of Getting Some Types Of Insurance
M Andrews, NPR, August 7, 2018 -
Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: a systematic review.
Zhong Adrina et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Aug -
United Kingdom: transfers of genomic data to third countries.
Taylor M J et al. Human genetics 2018 Aug
Practice
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Is Getting Your Genome Screened at a Doctor's Appointment a Good Idea?
R Letzter, Live Science, July 30, 2018 -
Keep calm and edit on.
et al. Nature biotechnology 2018 Aug 36(8) 667 -
Keep off-target effects in focus.
et al. Nature medicine 2018 Aug -
Laying Anchor: Inserting Precision Health into a Public Health Genetics Policy Course.
Modell Stephen M et al. Healthcare (Basel, Switzerland) 2018 Aug 6(3) -
Response: how PGS/PGT-a laboratories succeeded in losing all credibility.
Munné Santiago et al. Reproductive biomedicine online 2018 Aug 37(2) 247-249 -
A big step forward for PGT-M?
Stock-Myer Sharyn et al. Reproductive biomedicine online 2018 Aug 37(2) 126-127 -
Clinical exome sequencing in France and Quebec: what are the challenges? What does the future hold?
Bertier Gabrielle et al. Life sciences, society and policy 2018 Aug 14(1) 17 -
Data Enclaves for Sharing Information Derived From Clinical and Administrative Data.
Platt Richard et al. JAMA 2018 Aug -
A Road Map for Evaluation and Appropriate Implementation of Genome Sequencing to Improve Population Health
MJ Khoury, CDC Blog, August 2, 2018 -
Genome-wide association study meta-analysis of the Alcohol Use Disorder Identification Test (AUDIT) in two population-based cohorts (N=141,932)
S Sanchez-Roige et al, BIORxIV, August 2, 2018 -
DNA and mRNA vaccination against allergies.
Scheiblhofer Sandra et al. Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology 2018 Jul -
Review of applications of high-throughput sequencing in personalized medicine: barriers and facilitators of future progress in research and clinical application.
Lightbody Gaye et al. Briefings in bioinformatics 2018 Jul -
The Path to Routine Genomic Screening in Health Care.
Murray Michael F et al. Annals of internal medicine 2018 Jul -
Circulating Cell Free DNA: Applications in the Clinical and Toxicology Setting
NIEHS, Workshop, September 24-25, 2018 -
Examining the Cascade of Participant Attrition in a Genomic Medicine Research Study: Barriers and Facilitators to Achieving Diversity.
Moore Elizabeth G et al. Public health genomics 2018 Aug 20(6) 332-342 -
Precision medicine in the clouds.
Vogt Henrik et al. Nature biotechnology 2018 Aug 36(8) 678-680 -
How PGS/PGT-A laboratories succeeded in losing all credibility.
Gleicher Norbert et al. Reproductive biomedicine online 2018 Aug 37(2) 242-245 -
Reply to "Precision medicine in the clouds".
Magis Andrew T et al. Nature biotechnology 2018 Aug 36(8) 680-682
Heart, Lung, Blood and Sleep Diseases
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Pulmonary Hypertension Fact Sheet
CDC Information, 2018 -
Impact of Self-Reported Family History of Premature Cardiovascular Disease on the Outcomes of Patients Hospitalized for Acute Coronary Syndrome (from the Acute Coronary Syndrome Israel Survey [ACSIS] 2000 to 2013).
Levi Amos et al. The American journal of cardiology 2018 Jun -
Glucose-6-Phosphate Dehydrogenase Deficiency is Associated with Cardiovascular Disease in U.S. Military Centers.
Thomas John E et al. Texas Heart Institute journal 2018 Jun 45(3) 144-150 -
Current approaches to diagnostic testing in von Willebrand Disease.
Rao Emily Southard et al. Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2018 Jul -
Outcomes of Cardiac Screening in Adolescent Soccer Players.
Malhotra Aneil et al. The New England journal of medicine 2018 Aug 379(6) 524-534 -
Precision medicine in COPD: where are we and where do we need to go?
Sidhaye Venkataramana K et al. European respiratory review : an official journal of the European Respiratory Society 2018 Sep 27(149) -
Whole-Gene Duplication of PCSK9 as a Novel Genetic Mechanism for Severe Familial Hypercholesterolemia.
Iacocca Michael A, et al. The Canadian journal of cardiology 2018 10 0. (10) 1316-1324 -
Screening for Atrial Fibrillation Comes With Many Snags.
Mandrola John et al. JAMA internal medicine 2018 Aug -
Screening for Atrial Fibrillation With Electrocardiography: US Preventive Services Task Force Recommendation Statement.
et al. JAMA 2018 Aug 320(5) 478-484 -
Screening for Atrial Fibrillation With Electrocardiography: Evidence Report and Systematic Review for the US Preventive Services Task Force.
Jonas Daniel E et al. JAMA 2018 Aug 320(5) 485-498 -
Recent advances in pulmonary arterial hypertension.
Wilkins Martin R et al. F1000Research 2018 7 -
Genetics in pulmonary arterial hypertension in a large homogeneous Japanese population.
Gamou S et al. Clinical genetics 2018 Jul 94(1) 70-80 -
Telomere Length as Cardiovascular Aging Biomarker: JACC Review Topic of the Week.
De Meyer Tim, et al. Journal of the American College of Cardiology 2018 8 0. (7) 805-813 -
Age at puberty and risk of asthma: A Mendelian randomisation study.
Minelli Cosetta et al. PLoS medicine 2018 Aug 15(8) e1002634 -
Familial Hypercholesterolemia: Shining Light on a Serious Genetic Condition
K Wilemon, US News, August 7, 2018 -
Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.
Renard Marjolijn et al. Journal of the American College of Cardiology 2018 Aug 72(6) 605-615 -
Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.
Sturm Amy C et al. Journal of the American College of Cardiology 2018 Aug 72(6) 662-680
Pharmacogenomics
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Combinatorial pharmacogenomics and improved patient outcomes in depression: Treatment by primary care physicians or psychiatrists.
Tanner Julie-Anne et al. Journal of psychiatric research 2018 Jul 104157-162 -
HLA-B*5801 Testing to Prevent Allopurinol Hypersensitivity Syndrome: A Teachable Moment.
Quach Cuong et al. JAMA internal medicine 2018 Aug -
Preface to Special Issue on 'Cytochrome P450 Variation in Pharmacogenomics'.
Rettie Allan E et al. Journal of personalized medicine 2018 Jul 8(3) -
Biomarkers of drug-induced liver injury: progress and utility in research, medicine, and regulation.
McGill Mitchell R et al. Expert review of molecular diagnostics 2018 Aug
Reproductive Health
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Did CRISPR really fix a genetic mutation in these human embryos?
E Callaway, Nature, August 8, 2018 -
Clinical experience with sex chromosomes aneuploidies detected by non-invasive prenatal testing (NIPT): accuracy and patient decision making.
Ramdaney Aarti et al. Prenatal diagnosis 2018 Aug -
Expanded carrier screening: a current survey of physician utilization and attitudes.
Briggs Allison et al. Journal of assisted reproduction and genetics 2018 Aug -
Measuring the impact of genetic knowledge on intentions and attitudes of the community towards expanded preconception carrier screening.
Ong Royston et al. Journal of medical genetics 2018 Aug -
Pregnancy and child developmental outcomes after preimplantation genetic screening: a meta-analytic and systematic review.
Natsuaki Misaki N et al. World journal of pediatrics : WJP 2018 Jul -
The cost of a euploid embryo identified from preimplantation genetic testing for aneuploidy (PGT-A): a counseling tool.
Goldman Randi H et al. Journal of assisted reproduction and genetics 2018 Jul -
Noninvasive Prenatal Genetic Screening Using Cell-free DNA.
Allyse Megan A et al. JAMA 2018 Jul -
Preimplantation genetic testing for aneuploidy by microarray analysis of polar bodies in advanced maternal age: a randomized clinical trial.
Verpoest Willem et al. Human reproduction (Oxford, England) 2018 Aug -
Noninvasive prenatal testing for congenital heart disease - cell-free nucleic acid and protein biomarkers in maternal blood.
Biró Orsolya et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2018 Aug 1-11 -
Pregnancy outcome of autosomal aneuploidies other than common trisomies detected by noninvasive prenatal testing in routine clinical practice.
Wan Junhui et al. Prenatal diagnosis 2018 Aug -
Pre-implantation genetic testing: decisional factors to accept or decline among in vitro fertilization patients.
Lamb Brandy et al. Journal of assisted reproduction and genetics 2018 Aug