Published on 11/10/2016
Human Genomics across the Lifespan
Birth Defects and Child Health
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Snapshots of Life: Lighting up the Promise of Retinal Gene Therapy
Francis Collins, NIH Director, November 10, 2016 -
Gene therapy for blistering skin disease appears to enhance healing in clinical trial
Stanford Medicine, November 1, 2016 -
The management and treatment of children with Fabry disease: A United States-based perspective.
Hopkin Robert J et al. Molecular genetics and metabolism 2016 Feb 117(2) 104-13 -
How Suitable Are Registry Data for Recurrence Risk Calculations? Validation of Diagnoses on 1,593 Families With Congenital Heart Disease.
Ellesøe Sabrina Gade et al. World journal for pediatric & congenital heart surgery 2016 Mar 7(2) 169-77 -
National registry of hemoglobinopathies in Spain (REPHem).
Cela Elena et al. Pediatric blood & cancer 2016 Nov -
Genomic diagnosis for children with intellectual disability and/or developmental delay
KM Bowling et al, BioXRV, November 2016 -
Implementing evidence-driven individualized treatment plans within Morquio A Syndrome.
Clarke Lorne A et al. Molecular genetics and metabolism 2016 Feb 117(2) 217
Cancer
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DNA study lays bare devastating damage caused by smoking
The Guardian, November 3, 2016 -
The cancer bloodhounds.
Webb Sarah et al. Nature biotechnology 2016 Nov 34(11) 1090-1094 -
Technological considerations for genome-guided diagnosis and management of cancer.
Lennon Niall J et al. Genome medicine 2016 Oct 8(1) 112 -
Every year of smoking causes DNA mutations that make cancer more likely
LA Times, November 3, 2016 -
Association of Polymorphisms in FCGR2A and FCGR3A With Degree of Trastuzumab Benefit in the Adjuvant Treatment of ERBB2/HER2-Positive Breast Cancer: Analysis of the NSABP B-31 Trial.
Gavin Patrick G et al. JAMA oncology 2016 Nov -
Extended RAS Gene Mutation Testing in Metastatic Colorectal Carcinoma to Predict Response to Anti-Epidermal Growth Factor Receptor Monoclonal Antibody Therapy: American Society of Clinical Oncology Provisional Clinical Opinion Update 2015 Summary.
Allegra Carmen J et al. Journal of oncology practice 2016 Feb 12(2) 180-1 -
Differences in survival for patients with familial and sporadic cancer.
Lee Myeongjee et al. International journal of cancer 2016 Oct -
Development of a Tool to Guide Parents Carrying a BRCA1/2 Mutation Share Genetic Results with Underage Children.
Santerre-Theil Ariane et al. Journal of cancer education : the official journal of the American Association for Cancer Education 2016 Nov -
Uptake of genetic counseling, genetic testing and surveillance in hereditary malignant melanoma (CDKN2A) in Norway.
Levin Trine et al. Familial cancer 2016 Nov -
Somatic cancer variant curation and harmonization through consensus minimum variant level data.
Ritter Deborah I et al. Genome medicine 2016 Nov 8(1) 117 -
ACR Appropriateness Criteria Breast Cancer Screening.
Mainiero Martha B et al. Journal of the American College of Radiology : JACR 2016 Nov 13(11S) R45-R49 -
Methodologic Considerations in the Application of Next-Generation Sequencing of Human TRB Repertoires for Clinical Use.
Xu Liwen et al. The Journal of molecular diagnostics : JMD 2016 Nov -
Translating a Prognostic DNA Genomic Classifier into the Clinic: Retrospective Validation in 563 Localized Prostate Tumors.
Lalonde Emilie et al. European urology 2016 Nov -
Triple-Negative versus Non-Triple-Negative Breast Cancers in High-Risk Women: Phenotype Features and Survival from the HIBCRIT-1 MRI-Including Screening Study.
Podo Franca et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2016 Feb 22(4) 895-904 -
Predictive Value of FcR Polymorphisms: A Further Step on the Long and Winding Road to Application.
Dolcetti Riccardo et al. JAMA oncology 2016 Nov
Chronic Disease
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The DNA-based diet
R. Collier, November 9, 2016 -
Evaluation of a Web-based decision aid for people considering the APOE genetic test for Alzheimer risk.
Ekstract Michael et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Nov
Ethics/Policy/Law
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Clinical integration of next generation sequencing: coverage and reimbursement challenges.
Deverka Patricia A et al. The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics 2014 42 Suppl 122-41
Practice
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Text Mining for Precision Medicine: Bringing Structure to EHRs and Biomedical Literature to Understand Genes and Health.
Simmons Michael et al. Advances in experimental medicine and biology 2016 939139-166 -
Becoming partners, retaining autonomy: ethical considerations on the development of precision medicine.
Blasimme Alessandro et al. BMC medical ethics 2016 Nov 17(1) 67 -
The new frontier in health services research: a behavioural paradigm guided by genetics.
Fluegge Kyle et al. Journal of health services research & policy 2016 Nov -
Participation in Genetic Research: Amazon's Mechanical Turk Workforce in the United States and India.
Groth Susan W et al. Public health genomics 2016 Nov -
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
O'Daniel Julianne M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Nov -
Do Genetic Tests Make Sense for You?
By Hallie Levine, Consumer Reports, November 6, 2016 -
Establishing and managing a periodontal biobank for research: the sharing of experience.
Vaithilingam R D et al. Oral diseases 2015 Jan 21(1) e62-9 -
Harmonizing the interpretation of genetic variants across the world: the Malaysian experience.
Hassan Nik Norliza Nik et al. BMC research notes 2016 Feb 9125 -
The challenge of comprehensive and consistent sequence variant interpretation between clinical laboratories.
Pepin Melanie G et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jan 18(1) 20-4
Heart, Lung, Blood and Sleep Diseases
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Testing toddlers for inherited heart disease
Genomics Education UK, October 31, 2016 -
What Gets Measured Gets Done: Public Health Progress in Familial Hypercholesterolemia
J Knowles and MJ Khoury, CDC Blog Post, November 9, 2016
Newborn Screening
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Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening.
de Pagter Anne P J et al. European journal of pediatrics 2015 Sep 174(9) 1183-8
Pharmacogenomics
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Comorbidities and pharmacotherapies in patients with Gaucher disease type 1: The potential for drug-drug interactions.
Utz Jeanine et al. Molecular genetics and metabolism 2016 Feb 117(2) 172-8 -
Pharmacogenomics of heart failure: a systematic review.
Mottet Fannie et al. Pharmacogenomics 2016 Nov 17(16) 1817-1858 -
Pharmacogenetics and Predictive Testing of Drug Hypersensitivity Reactions.
Böhm Ruwen et al. Frontiers in pharmacology 2016 7396 -
Pharmacogenomics competencies in pharmacy practice: A blueprint for change.
Roederer Mary W et al. Journal of the American Pharmacists Association : JAPhA 2016 Nov
Reproductive Health
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Couple's Narratives of Communion and Isolation Following Abnormal Prenatal Microarray Testing Results.
Werner-Lin Allison et al. Qualitative health research 2016 Dec 26(14) 1975-1987 -
Fetal genome profiling at 5 weeks of gestation after noninvasive isolation of trophoblast cells from the endocervical canal.
Jain Chandni V et al. Science translational medicine 2016 Nov 8(363) 363re4 -
Translocation breakpoints of chromosome 1 in male carriers: clinical features and implications for genetic counseling.
Wang R X et al. Genetics and molecular research : GMR 2016 Oct 15(4) -
Chromosome 7 translocation breakpoints in male carriers: clinical features and implications for genetic counseling.
Wang R X et al. Genetics and molecular research : GMR 2016 Oct 15(4)