Genomics & Health Impact Weekly Scan | Public Health Genomics Knowledge Base (v1.2)

Public Health Genomics Knowledge Base (v1.2)

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
• Ethics/Policy/Law
• Practice
• Cardiovascular Diseases
• Newborn Screening
• Pharmacogenomics
• Reproductive Health
• Tools/Databases
• Diabetes

Birth Defects and Child Health

• Current strategies for the long-term assessment, monitoring, and management of cystic fibrosis patients treated with CFTR modulator therapy.
   Elborn J Stuart et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2016 Dec
• The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
   Zazo Seco Celia et al. European journal of human genetics : EJHG 2016 Dec
• From a single genetic mutation, secrets of ‘boy in the bubble’ disease revealed
   B Israel, Berkeley News, December 2016
• Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.
   Woon See-Tarn et al. Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2016 1265

Cancer

• Exploratory Analysis of TP53 Mutations in Circulating Tumour DNA as Biomarkers of Treatment Response for Patients with Relapsed High-Grade Serous Ovarian Carcinoma: A Retrospective Study
  CA Parkinson et al, PLOS Medicine, December 20, 2016
• Association of DNA Mismatch Repair and Mutations in BRAF and KRAS With Survival After Recurrence in Stage III Colon Cancers : A Secondary Analysis of 2 Randomized Clinical Trials
  FA Sinicrope et al, JAMA Oncology, December 22, 2016
• Study Finds No Safe Level of Smoking 
  NIH Director Blog, December 13, 2016
• The Angelina Effect: The Power And Perils Of Celebrity Cancer Stories
  C Goldberg, WBUR, December 16, 2016
• Circulating Tumor DNA May Serve as a Prognostic Marker in Pancreatic Cancer
  J Cavallo, ASCO Post, December 20, 2016
• Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer.
  Pearlman Rachel et al. JAMA oncology 2016 Dec
• Universal Genetic Testing for Younger Patients With Colorectal Cancer.
  Vilar Eduardo et al. JAMA oncology 2016 Dec
• When Genetic Tests Disagree About Best Option For Cancer Treatment
  NPR, December 16, 2016
• Circulating tumor DNA technology: the future of cancer management?
  L Blackburn, PHG Foundation, December 20, 2016
• Molecular Markers Beyond Microsatellite Instability for Assessing Prognosis in Early-Stage Colorectal Cancer : What Happens at Relapse?
  AS Bianchi. JAMA Oncology, December 22, 2016
• A new type of molecular medicine may be needed to halt cancers
  The Economist, December 17, 2016
• Genetic testing in a gynaecological oncology care in developing countries-knowledge, attitudes and perception of Nepalese clinicians.
  Pokharel Hanoon P et al. Gynecologic oncology research and practice 2016 312
• Cost-Effectiveness of an Individualized First-Line Treatment Strategy Offering Erlotinib Based on EGFR Mutation Testing in Advanced Lung Adenocarcinoma Patients in Germany.
  Schremser Katharina et al. PharmacoEconomics 2015 Nov 33(11) 1215-28
• Toward a Shared Vision for Cancer Genomic Data.
  Grossman Robert L et al. The New England journal of medicine 2016 Sep 375(12) 1109-12
• A Precision Medicine Approach to Clinical Trials.
  Rubin Rita et al. JAMA 2016 Nov 316(19) 1953-1955
• Comparison between CaGene 5.1 and 6.0 for BRCA1/2 mutation prediction: a retrospective study of 150 BRCA1/2 genetic tests in 517 families with breast/ovarian cancer.
  Antonucci Ivana et al. Journal of human genetics 2016 Dec
• Clinical challenges associated with universal screening for Lynch Syndrome associated endometrial cancer.
  Bruegl Amanda et al. Cancer prevention research (Philadelphia, Pa.) 2016 Dec
• Previvors' Uncertainty Management Strategies for Hereditary Breast and Ovarian Cancer.
  Dean Marleah et al. Health communication 2016 Dec 1-9

Chronic Diseases

• The Appropriateness and Cost of Thrombophilia Panel Testing: It’s Complicated
  S Bowen et al, CDC Blog Post, December 15, 2016
• Geneticists, health professionals suggest recasting requests to test children for adult-onset diseases: New study explores parents' reasons for seeking predictive genetic testing.
  et al. American journal of medical genetics. Part A 2017 Jan 173(1) 8-9
• Genotypic carriers of the obesity-associated FTO polymorphism exhibit different cardiometabolic profiles after an intervention.
  Moraes Greice G et al. Anais da Academia Brasileira de Ciencias 88(4) 2331-2339
• Genomes of healthy older Australians to accelerate genomic discovery
  R Burbidge, PHG Foundation, December 19, 2016

Ethics, Policy and Law

• Individual DNA samples and health information sold by 23andMe.
  Adam Shelin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Apr 18(4) 305-6
• Colon cancer runs in my family: Should I get a genetic test? I worry that'll affect my insurance.
  et al. Consumer reports 2017 82(1) 21

Genomics in Practice

• Precision Medicine, Genomics, and Public Health
  DK ARnett et al, Diabetes Care, December 2016
• Use of big data for drug development and for public and personal health and care
  L Leyens et al, Genetic Epidemiology, NOvember 2016
• Precision Medicine: What Does it Mean for Your Health?
• 2016: The year of precision public health
  Muin J. Khoury, Blog Post, CDC December 14, 2016
• Learning Health Systems as Facilitators of Precision Medicine.
  Ramsey Laura B et al. Clinical pharmacology and therapeutics 2016 Dec
• Bridging the Gap from Bench to Bedside--An Informatics Infrastructure for Integrating Clinical, Genomics and Environmental Data (ICGED).
  et al. Studies in health technology and informatics 2015 2161054
• The value of genetic testing: beyond clinical utility.
  Lerner Barbara et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Dec
• A systematic review and checklist presenting the main challenges for health economic modeling in personalized medicine: towards implementing patient-level models.
  Degeling K et al. Expert review of pharmacoeconomics & outcomes research 2016 Dec

Cardiovascular Diseases

• Knowing the Prevalence of Familial Hypercholesterolemia Matters.
  Goldberg Anne C et al. Circulation 2016 Mar 133(11) 1054-7
• Letter by Paton Regarding Article, "Knowing the Prevalence of Familial Hypercholesterolemia Matters".
  Paton David M et al. Circulation 2016 Jul 134(3) e17-8

Newborn Screening

• Screen and you shall find
  ML Hulbert, Science Translational Medicine, December 15, 2016
• An evaluation of pregnant women's knowledge and attitudes about newborn bloodspot screening.
  Fitzgerald Catherine et al. Midwifery 2016 Nov 4521-27

Reproductive Health

• Reproductive outcome of male carriers of chromosomal abnormalities: multidisciplinary approach for genetic counseling and its implications.
  Guo K M et al. Genetics and molecular research : GMR 2016 Dec 15(4)

Pharmacogenomics

• Clinical Pharmacogenetics Implementation Consortium (CPIC®) Guideline for CYP2C19 and Voriconazole Therapy.
  Moriyama Brad et al. Clinical pharmacology and therapeutics 2016 Dec
• The Impact of Genetic and Non-Genetic Factors on Warfarin Dose Prediction in MENA Region: A Systematic Review.
  Bader Loulia Akram et al. PloS one 2016 11(12) e0168732

Tools and Databases

• MR-Base: a platform for systematic causal inference across the phenome using billions of genetic associations
  G Hemani et al, BioXIRV preprints, December 2016

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.