Public Health Genomics Knowledge Base (v1.2)
Recent Additions to the Genomics and Health Impact Scan Database
About the Genomics & Health Impact Weekly Scan
This weekly update features emerging roles of human genomics, testing and interventions in a wide variety of noncommunicable diseases across the life span, including, birth defects, newborn screening, reproductive health, childhood diseases, cancer, chronic diseases, pharmacogenomics, family health history, guidelines and recommendations. The weekly sweep also includes news, reviews, commentaries, tools and databases.
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Human Genomics across the Lifespan
Birth Defects/Child Health
Cancer
Chronic Disease
Practice
Cardiovascular Diseases
Newborn Screening
Pharmacogenomics
Reproductive Health
Funding
Event
Birth Defects and Child Health
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
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 Diseases
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
Genomics in Practice
Has big data changed what it means to be a scientist?
Nature JObs, November 1, 2016
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
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
Cardiovascular Diseases
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
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
Reproductive Health
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)
Pharmacogenomics
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
Funding Opportunities
NICHD Genomic Clinical Variant Expert Curation Panels (U24)
Events
Improving the Lives of People with Sickle Cell Disease
CDC Public Health Grand Rounds, November 15, 1-2 pm
Disclaimer: Articles listed in Health Impact Weekly Scan are selected by the CDC Office of Public Health Genomics to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.