Published on 06/15/2017
Human Genomics across the Lifespan
Birth Defects and Child Health
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A Guideline for the Diagnosis of Pediatric Mitochondrial Disease: The Value of Muscle and Skin Biopsies in the Genetics Era.
Wortmann Saskia B et al. Neuropediatrics 2017 Jun -
Precision Dentistry in Early Childhood: The Central Role of Genomics.
Divaris Kimon et al. Dental clinics of North America 2017 Jul 61(3) 619-625 -
Salivary protein polymorphisms and risk of dental caries: a systematic review.
Lips Andrea et al. Brazilian oral research 2017 Jun 31e41 -
Factors associated with changes in health-related quality of life in children with cystic fibrosis during 1-year follow-up.
van Horck Marieke et al. European journal of pediatrics 2017 Jun -
Genetic diagnostic profiling in axial spondyloarthritis: a real world study.
Thomas Gothic P et al. Clinical and experimental rheumatology 35(2) 229-233 -
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies Dorota et al. Human genetics 2017 Jun -
Why we don't know what causes most birth defects
The Conversation, June 2017 -
Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders.
G C C L Cardenas Raony et al. PLoS computational biology 2017 Jun 13(6) e1005520 -
Molecular diagnostics for hereditary hearing loss in children.
Sommen Manou et al. Expert review of molecular diagnostics 2017 Jun -
Science didn't understand my kids' rare disease until I decided to study it
S Terry, TedMed Talk, 2017 -
Family experience with osteogenesis imperfecta type 1: the most distressing situations.
Santos Margarida Custódio Dos et al. Disability and rehabilitation 2017 Jun 1-7 -
Design, Validation, and Clinical Implementation of a Gap-Polymerase Chain Reaction Method for α-Thalassemia Genotyping Using Capillary Electrophoresis.
Basha Basma et al. Hemoglobin 2017 Jun 1-7 -
Whole exome sequencing in patients with white matter abnormalities.
Vanderver Adeline et al. Annals of neurology 2016 Jun 79(6) 1031-7
Cancer
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Cancer Precision Medicine: Why More Is More and DNA Is Not Enough.
Schütte Moritz et al. Public health genomics 2017 Jun -
Assessing Breast Cancer Risk Estimates Based on the Gail Model and Its Predictors in Qatari Women.
Bener Abdulbari et al. Journal of primary care & community health 2017 Jul 8(3) 180-187 -
Cancer Drug Proves to Be Effective Against Multiple Tumors
G Kolata, New York Times, June 8, 2017 -
Disparities in compliance with the Oncotype DX breast cancer test in the United States: A National Cancer Data Base assessment.
Kozick Zachary et al. American journal of surgery 2017 Jun -
Genetic mutations predict patient response to immunotherapy
Science Mag, June 8, 2017 -
All in the Family: The Importance of Talking About Hereditary Cancer
K Kosko, Cure magazine, June 2017 -
Quantifying the Benefits of Genome-Driven Oncology.
Schram Alison M et al. Cancer discovery 2017 Jun 7(6) 552-554 -
A single visit multidisciplinary model for managing patients with mutations in moderate and high-risk genes in a community practice setting.
O'Leary Michael P et al. Familial cancer 2017 Jun -
Colonoscopic surveillance - a cost-effective method to prevent hereditary and familial colorectal cancer.
Sjöström Olle et al. Scandinavian journal of gastroenterology 2017 Jun 1-6 -
An update on genomic-guided therapies for pediatric solid tumors.
Tsui Pui Chi et al. Future oncology (London, England) 2017 Jun -
Combined immune checkpoint blockade as a therapeutic strategy for BRCA1-mutated breast cancer.
Nolan Emma et al. Science translational medicine 2017 Jun 9(393) -
Genomic Study Seeks Clues to Help Explain Breast Cancer Disparities
NCI, June 13, 2017 -
Clinical Impact of Mismatch Repair Protein Testing on Outcome of Early Staged Colorectal Carcinomas.
Gandhi Jatin Sundersham et al. Journal of gastrointestinal cancer 2017 Jun -
Genetic status determines (18) F-FDG uptake in pheochromocytoma/paraganglioma.
Tiwari Ankita et al. Journal of medical imaging and radiation oncology 2017 Jun -
A prospective pilot study of genome-wide exome and transcriptome profiling in patients with small cell lung cancer progressing after first-line therapy.
Weiss Glen J et al. PloS one 2017 12(6) e0179170 -
Genetic predisposition to hematologic malignancies: management and surveillance.
Godley Lucy A et al. Blood 2017 Jun -
Biomarker Test Could Reduce Unnecessary Biopsies to Detect Prostate Cancer
NCI, June 9, 2017 -
Regarding the Clinical Practice Guidelines for the Surgical Treatment of Patients With Lynch Syndrome.
Church James Michael et al. Diseases of the colon and rectum 2017 Jul 60(7) e595-e596 -
Evaluation of the "Angelina Jolie Effect" on Screening Mammography Utilization in an Academic Center.
Huesch Marco D et al. Journal of the American College of Radiology : JACR 2017 Jun -
Performance of BRCA1/2 mutation prediction models in male breast cancer patients.
Moghadasi Setareh et al. Clinical genetics 2017 Jun -
Clinical outcomes of female breast cancer according to BRCA mutation status.
Cronin-Fenton Deirdre P et al. Cancer epidemiology 2017 Jun 49128-137 -
Familial Adenomatous Polyposis Registry in Czech Republic - History, Present and Future.
Cyrany Jirí et al. Acta medica (Hradec Kralove) 2017 60(1) 55-57 -
Multi-disciplinary summit on genetics services for women with gynecologic cancers: A Society of Gynecologic Oncology White Paper.
Randall Leslie M et al. Gynecologic oncology 2017 Jun -
Epigenetic Signature: A New Player as Predictor of Clinically Significant Prostate Cancer (PCa) in Patients on Active Surveillance (AS).
Ferro Matteo et al. International journal of molecular sciences 2017 May 18(6) -
New blood test uses nanotechnology to predict aggressive prostate cancer accurately
Science Mag, June 9, 2017 -
Genomic Analysis of Plasma Cell-Free DNA in Patients With Cancer.
Oxnard Geoffrey R, et al. JAMA oncology 2017 6 0. (6) 740-741 -
FDA Approves First Cancer Drug Based on GeneticsÂ… Not Tumor Location
R Stoller, National Foundation for Cancer Research. June 9, 2017 -
The NCI Genomic Data Commons as an engine for precision medicine.
Jensen Mark A et al. Blood 2017 Jun -
[Making better use of the clinical geneticist's expertise; treating physician could request a DNA test for most cancer patients].
Aalfs C M et al. Nederlands tijdschrift voor geneeskunde 2017 161(0) D1525 -
Evaluating the NCCN Clinical Criteria for Recommending BRCA1 and BRCA2 Genetic Testing in Patients With Breast Cancer.
Cropper Caiqian et al. Journal of the National Comprehensive Cancer Network : JNCCN 2017 Jun 15(6) 797-803 -
Precision Oncology Based on Omics Data: The NCT Heidelberg Experience.
Horak Peter et al. International journal of cancer 2017 Jun
Chronic Disease
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It's Loud Out There: Hearing Health across the Lifespan
CDC Public Health Grand Rounds, June 20, 2017 -
Scientists Map DNA Damage Caused by Smoking
Science Magazine, June 13, 2017
Ethics/Policy/Law
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Ethical considerations in genomic testing for hematologic disorders.
Marron Jonathan M et al. Blood 2017 Jun -
'Not everyone wants to know': Warnings over genetic tests,
by Andrea Nierhoff, SBS, June 12, 2017
Practice
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Direct-to-consumer genetic testing: One size doesnÂ’t fit all,
by Joel Diamond, MedCity News, June 12, 2017 -
Ethics, big data and computing in epidemiology and public health.
Salerno Jennifer et al. Annals of epidemiology 2017 May 27(5) 297-301 -
Medical genetics and genomics education: how do we define success? Where do we focus our resources?
Bennett Robin L, et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 0 0. (7) 751-753 -
Primer in Genetics and Genomics, Article 2-Advancing Nursing Research With Genomic Approaches.
Lee Hyunhwa et al. Biological research for nursing 2017 Mar 19(2) 229-239 -
NIH Launches Personalized Medicine Initiative Beta Phase,
by Marcia Frellick, Medscape, June 7, 2017 -
The dangers of mail-in genetic testing
D Munroe, Macleans, June 2017 -
Collaborative Research: An Advanced Practice Nurse's Experience in Genome Research and Treatment.
Barnby Elizabeth et al. Clinical nurse specialist CNS 31(4) 191-194 -
The African American Sequencing Project
23andme research blog, June 12, 2017 -
A CRISPR New World: Attitudes in the Public toward Innovations in Human Genetic Modification.
Weisberg Steven M et al. Frontiers in public health 2017 5117 -
Beliefs about Genetically Targeted Care in African Americans.
Halbert Chanita Hughes et al. Journal of the National Medical Association 109(2) 98-106 -
Young people's awareness on biobanking and DNA profiling: results of a questionnaire administered to Italian university students.
Tozzo Pamela et al. Life sciences, society and policy 2017 Dec 13(1) 9 -
Consumer Perspectives on Access to Direct-to-Consumer Genetic Testing: Role of Demographic Factors and the Testing Experience.
Gollust Sarah E et al. The Milbank quarterly 2017 Jun 95(2) 291-318
Heart, Lung, Blood and Sleep Diseases
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Pulmonary arterial hypertension: Specialists' knowledge, practices, and attitudes of genetic counseling and genetic testing in the USA.
Jacher Joseph E et al. Pulmonary circulation 7(2) 372-383 -
Genetic Testing in the Evaluation of Unexplained Cardiac Arrest: From the CASPER (Cardiac Arrest Survivors With Preserved Ejection Fraction Registry).
Mellor Greg et al. Circulation. Cardiovascular genetics 2017 Jun 10(3) -
Issues and Challenges in Diagnostic Sequencing for Inherited Cardiac Conditions.
Walsh Roddy et al. Clinical chemistry 2017 Jan 63(1) 116-128 -
Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.
Wang Jian et al. Arteriosclerosis, thrombosis, and vascular biology 2016 Dec 36(12) 2439-2445 -
Attitudes, knowledge and consequences of uncertain genetic findings in hypertrophic cardiomyopathy.
Burns Charlotte et al. European journal of human genetics : EJHG 2017 Jun 25(7) 809-815
Newborn Screening
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Policy brief: Improve coverage of newborn genetic screening to include the Recommended Uniform Screening Panel and newborn screening registry.
Starkweather Angela et al. Nursing outlook 2017 May
Pharmacogenomics
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Availability of CYP2D6 genotyping results in general practitioner and community pharmacy medical records.
Simoons Mirjam et al. Pharmacogenomics 2017 Jun -
On the readiness of physicians for pharmacogenomics testing: an empirical assessment.
Amara N et al. The pharmacogenomics journal 2017 Jun -
Cost-effectiveness of pharmacogenetic-guided treatment: are we there yet?
Verbelen M et al. The pharmacogenomics journal 2017 Jun -
Introduction to Pharmacogenetics 2.0
YouTube video, M Ensinger 2017 -
Development and Initial Assessment of a Patient Education Video about Pharmacogenetics.
Mills Rachel et al. Journal of personalized medicine 2017 May 7(2) -
Clinical and educational impact of pharmacogenomics testing: a case series from the INGENIOUS trial.
Pierson Rebecca C et al. Pharmacogenomics 2017 Jun -
Tailoring of recommendations to reduce serious cutaneous adverse drug reactions: a pharmacogenomics approach.
Tan-Koi Wei Chuen et al. Pharmacogenomics 2017 Jun -
Clinical Trial Designs to Support Clinical Utility of Pharmacogenomic Testing.
Drozda Katarzyna et al. Pharmacotherapy 2017 Jun -
Pharmacogenomics in Asia: a systematic review on current trends and novel discoveries.
Ang Hazel Xiaohui et al. Pharmacogenomics 2017 Jun -
Pharmacogenetics in cancer therapy - 8 years of experience at the Institute for Oncology and Radiology of Serbia.
Cavic Milena et al. Journal of B.U.ON. : official journal of the Balkan Union of Oncology 21(5) 1287-1295 -
The experience of physicians in pharmacogenomic clinical decision support within eight German university hospitals.
Hinderer Marc et al. Pharmacogenomics 2017 Jun -
Integrating clinical decision support systems for pharmacogenomic testing into clinical routine - a scoping review of designs of user-system interactions in recent system development.
Hinderer Marc et al. BMC medical informatics and decision making 2017 Jun 17(1) 81
Reproductive Health
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Chromosomal microarray as a primary diagnostic genomic tool for pregnancies defined as being at increased risk within a population based combined first-trimester screening program.
Vogel Ida et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2017 Jun -
ACOG Clinical Guidelines at a Glance: Prenatal diagnostic testing for genetic disorder,
by Joe Leigh Simpson, MD, Modern Medicine Network, June 15, 2017 -
Educational needs of nurses to provide genetic services in prenatal care: A cross-sectional study from Turkey.
Seven Memnun et al. Nursing & health sciences 2017 Jun -
Reproductive outcome following pre-implantation genetic diagnosis (PGD) in the UK.
Sharpe Abigail et al. Human fertility (Cambridge, England) 2017 Jun 1-8 -
Parents' perceptions of counselling following prenatal diagnosis of congenital anomalies of the kidney and urinary tract: a qualitative study.
Marokakis Sarah et al. BJU international 2017 Mar 119(3) 474-481 -
Expanded carrier screening: what determines intended participation and can this be influenced by message framing and narrative information?
Voorwinden Jan S et al. European journal of human genetics : EJHG 2017 Jun 25(7) 793-800