Public Health Genomics Knowledge Base (v1.0)
Health Impact Weekly Scan
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
Pharmacogenomics
Reproductive Health
Tools/Databases
News/ Reviews/Comments
Event
CDC-Authored Genomics Publications
Birth Defects and Child Health
Health literacy and disease-specific knowledge of caregivers for children with sickle cell disease.
Carden Marcus A et al. Pediatric hematology and oncology 2016 Mar 1-13
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
Stark Zornitza et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar
Cancer
Polygenic susceptibility to testicular cancer: implications for personalised health care.
Litchfield Kevin et al. British journal of cancer 2015 Nov 113(10) 1512-8
Predicting Barrett's esophagus in Families: An Esophagus Translational Research Network (BETRNet) Model Fitting Clinical Data to a Familial Paradigm.
Sun Xiangqing et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2016 Feb
Eligibility Criteria and Genetic Testing Results from a High-Risk Cohort for Hereditary Breast and Ovarian Cancer Syndrome in Southeastern Ontario.
Vidal Ricardo Dos Santos et al. The Journal of molecular diagnostics : JMD 2016 Feb
Chronic Diseases
HLA-Incompatible Kidney Transplantation — Worth the Risk?
Rostaing LPE, et al. N Engl J Med 2016; 374:982-984 March 10
Illness representations, knowledge and motivation to perform presymptomatic testing for late-onset genetic diseases.
Leite Ângela et al. Psychology, health & medicine 2016 Mar 1-6
Survival Benefit with Kidney Transplants from HLA-Incompatible Live Donors
BJ, et al. N Engl J Med 2016; 374:940-950 March 10, 2016
Current landscape of direct-to-consumer genetic testing and its role in ophthalmology: a review.
Sanfilippo Paul G et al. Clinical & experimental ophthalmology 2015 Aug 43(6) 578-90
A pilot randomized clinical trial evaluating the impact of genetic counseling for serious mental illnesses.
Hippman Catriona et al. The Journal of clinical psychiatry 2016 Feb 77(2) e190-8
Ethics, Policy and Law
Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research.
Souzeau Emmanuelle et al. Translational vision science & technology 2016 Feb 5(1) 3
Genomics in Practice
Incidental Findings: The Importance of Pretest Counseling.
Buchtel Kathryn M et al. Pediatric neurology briefs 2015 Dec 29(12) 91
Genomic research in Zambia: confronting the ethics, policy and regulatory frontiers in the 21st Century.
Chanda-Kapata Pascalina et al. Health research policy and systems / BioMed Central 2015 1360
Patients' views on incidental findings from clinical exome sequencing.
Clift Kristin E et al. Applied & translational genomics 2015 Mar 438-43
Improving Decision Making about Genetic Testing in the Clinic: An Overview of Effective Knowledge Translation Interventions.
Légaré France et al. PloS one 2016 11(3) e0150123
Comprehension and Data-Sharing Behavior of Direct-To-Consumer Genetic Test Customers.
McGrath Scott P et al. Public health genomics 2016 Mar
A community survey on knowledge of the impact of environmental and epigenetic factors on health and disease.
Miller Marian et al. Perspectives in public health 2016 Mar
Clinical utility of a Web-enabled risk-assessment and clinical decision support program.
Orlando Lori A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar
Consumer Perceptions of Interactions With Primary Care Providers After Direct-to-Consumer Personal Genomic Testing.
van der Wouden Cathelijne H et al. Annals of internal medicine 2016 Mar
Medical implications of technical accuracy in genome sequencing.
Goldfeder Rachel L et al. Genome medicine 2016 8(1) 24
Cardiovascular Diseases
Comprehensive Versus Targeted Genetic Testing in Children with Hypertrophic Cardiomyopathy.
Bales Nathan D et al. Pediatric cardiology 2016 Mar
The UK Paediatric Familial Hypercholesterolaemia Register: preliminary data.
Ramaswami Uma et al. Archives of disease in childhood 2016 Mar
Reproductive Health
Practice Bulletin No. 163: Screening for Fetal Aneuploidy.
et al. Obstetrics and gynecology 2016 Mar
Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders.
et al. Obstetrics and gynecology 2016 Mar
Ethical and practical challenges in providing noninvasive prenatal testing for chromosome abnormalities: an update.
Benn Peter et al. Current opinion in obstetrics & gynecology 2016 Apr 28(2) 119-24
Canadian women's attitudes toward noninvasive prenatal testing of fetal DNA in maternal plasma.
Pariente Gali 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 2016 Mar 1-7
Patient Choice and Clinical Outcomes Following Positive Noninvasive Prenatal Screening for Aneuploidy with Cell-free DNA (cfDNA).
Dobson Lori et al. Prenatal diagnosis 2016 Mar
Expanded carrier screening in an infertile population: how often is clinical decision making affected?
Franasiak Jason M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar
Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.
Hussein Norita et al. The Cochrane database of systematic reviews 2015 8CD010849
Pharmacogenomics
Advancing Pharmacogenomics Education in the Core PharmD Curriculum through Student Personal Genomic Testing.
Adams Solomon M et al. American journal of pharmaceutical education 2016 Feb 80(1) 3
Disease-Drug Database for Pharmacogenomic-Based Prescribing.
Hussain Sheena et al. Clinical pharmacology and therapeutics 2016 Mar
Preemptive Pharmacogenomic Testing for Precision Medicine: A Comprehensive Analysis of Five Actionable Pharmacogenomic Genes Using Next-Generation DNA Sequencing and a Customized CYP2D6 Genotyping Cascade.
Ji Yuan et al. The Journal of molecular diagnostics : JMD 2016 Mar
Tools and Databases
Genomic Prescribing System (GPS)
The University of Chicago
OCDB: a database collecting genes, miRNAs and drugs for obsessive-compulsive disorder.
Privitera Anna P et al. Database : the journal of biological databases and curation 2015 2015bav069
OCDB: the first overall database collecting genes, miRNAs and drugs for Obsessive-Compulsive Disorder
News/Reviews/Commentaries
Genetic Test Firm to Put Customers’ Data in Public Domain,
by Andrew Pollack, International New York Times, March 8, 2016
Next Generation Sequencing: The Basics,
by Sally Roberts, News-Medical.net, March 6, 2016
Discovery of a gene associated with a set of poorly understood rare diseases,
IRB Barcelona, March 2, 2016
Price of sequencing your genome falls to $999,
by Gary Robbins, the San Diego Union-Tribune, March 4, 2016
Genetic Counselors Can Weed Out Errors, Ensure Patients Get Needed Tests, Larsen Haidle Says,
by Andrew Smith, AJMC, March 2, 2016
Bringing Genomics to High School Students: A Survival Guide,
by Sergio Pistoi, DNA Science Blog, March 4, 2016
Look At Me: Why Genetic Test Results Don't Tell The Full Story,
by Caitlin Bawn, WGBH, March 7, 2016
Two Ways of Knowing: Big Data and Evidence-Based Medicine.
Sim Ida Annals of internal medicine 2016 1 0. .
‘Essential’ genes may not be so essential after all,
by Eric Boodman, STAT, March 3, 2016
There’s No Guarantee That Genetic Tests Are Accurate,
By Alexandra Ossola, Popular Science, March 7, 2016
DNA Barcodes Could Streamline Search for New Drugs to Combat Cancer,
by Dr. Francis Collins, NIH Director?s Blog, March 8, 2016
Here’s Why Twin Studies Are So Important To Science And NASA,
by Claire Maldarelli, Popular Science, March 1, 2016
Screening for Alzheimer’s Gene Tests the Desire to Know,
by Gina Kolata, International New York Times, March 7, 2016
Precision medicine requires reliable genome sequencing,
by Rachel Goldfeder, BioMed Central, March 7, 2016
Events
Curating the Clinical Genome - ClinGen/DECIPHER 2016
June 22-24, 2016 ~ Cambridge, UK
CDC-Authored Genomics Publications
Kroppenstedtia pulmonis sp. nov. and Kroppenstedtia sanguinis sp. nov., isolated from human patients.
Bell Melissa E, Lasker Brent A, Klenk Hans-Peter, Hoyles Lesley, Spröer Catherine, Schumann Peter, Brown June M Antonie van Leeuwenhoek 2016 2 0. .
A Multicountry Molecular Analysis of Salmonella enterica Serovar Typhi With Reduced Susceptibility to Ciprofloxacin in Sub-Saharan Africa.
Al-Emran Hassan M, Eibach Daniel, Krumkamp Ralf, Ali Mohammad, Baker Stephen, Biggs Holly M, Bjerregaard-Andersen Morten, Breiman Robert F, Clemens John D, Crump John A, Cruz Espinoza Ligia Maria, Deerin Jessica, Dekker Denise Myriam, Gassama Sow Amy, Hertz Julian T, Im Justin, Ibrango Samuel, von Kalckreuth Vera, Kabore Leon Parfait, Konings Frank, Løfberg Sandra Valborg, Meyer Christian G, Mintz Eric D, Montgomery Joel M, Olack Beatrice, Pak Gi Deok, Panzner Ursula, Park Se Eun, Razafindrabe Jean Luco Tsiriniaina, Rabezanahary Henintsoa, Rakotondrainiarivelo Jean Philibert, Rakotozandrindrainy Raphaël, Raminosoa Tiana Mirana, Schütt-Gerowitt Heidi, Sampo Emmanuel, Soura Abdramane Bassiahi, Tall Adama, Warren Michelle, Wierzba Thomas F, May Jürgen, Marks Florian Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2016 3 0. S42-6.