June 23-30, 2016
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.
Human Genomics across the Lifespan
Birth Defects and Child Health
- Developing a Unified Approach for Sickle Cell Disease
Am J Prev Pemd, July 2016 - Utility of Clinical High-Depth Next Generation Sequencing for Somatic Variant Detection in the PIK3CA Related Overgrowth Spectrum.
Hucthagowder Vishwanathan et al. Clinical genetics 2016 Jun - Sickle-cell disease: managing comorbidities
Lancet, June 2016 - Sickle Cell Disease: A Continued Call to Action
AJPM supplement, July 2016
Cancer
- A pilot study of clinical targeted next generation sequencing for prostate cancer: Consequences for treatment and genetic counseling.
Cheng Heather H et al. The Prostate 2016 Jun - Randomized Noninferiority Trial of Telephone Delivery of BRCA1/2 Genetic Counseling Compared With In-Person Counseling: 1-Year Follow-Up.
Kinney Anita Y et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Jun - The role of microRNAs in bladder cancer.
Enokida Hideki et al. Investigative and clinical urology 2016 Jun 57 Suppl 1S60-76 - Cancer Incidence in First- and Second-Degree Relatives of BRCA1 and BRCA2 Mutation Carriers.
Streff Haley et al. The oncologist 2016 Jun - Identification of familial colorectal cancer and hereditary colorectal cancer syndromes through the Dutch population-screening program: results ofa pilot study.
van Erp Sanne J H et al. Scandinavian journal of gastroenterology 2016 Jun 1-6 - Health Behaviors and their Relationship with Disease Control in People Attending Genetic Clinics with a Family History of Breast or Colorectal Cancer.
Anderson Annie S et al. Journal of genetic counseling 2016 Jun - Health Care Disparities in Hereditary Ovarian Cancer: Are We Reaching the Underserved Population?
Randall Thomas C et al. Current treatment options in oncology 2016 Aug 17(8) 39 - Usefulness of Canadian Public Health Insurance Administrative Databases to Assess Breast and Ovarian Cancer Screening Imaging Technologies for BRCA1/2 Mutation Carriers.
Larouche Geneviève et al. Canadian Association of Radiologists journal = Journal l'Association canadienne des radiologistes 2016 Jun - Roles of telomeres and telomerase in cancer, and advances in telomerase-targeted therapies
M Jafri et al, Genome Medicine, June 20, 2016 - Telomere and Telomerase Therapeutics in Cancer.
Xu Yucheng et al. Genes 2016 7(6) - Telomere-associated aging disorders.
Opresko Patricia L et al. Ageing research reviews 2016 May - NICE Breast Cancer quality standard, June 2016
- The Role of microRNAs in the Diagnosis and Treatment of Pancreatic Adenocarcinoma.
Diab Maria et al. Journal of clinical medicine 2016 5(6) - Biomarkers for the Clinical Use of PD-1/PD-L1 Inhibitors in Non–Small-Cell Lung Cancer: A Review
JAMA Oncology, June 16, 2016 - Telephone counseling can help make cancer genetic services more accessible to rural women
Medical News, June 21, 2016
Chronic Diseases
- Introducing Genetic Tests With Uncertain Implications in Living Donor Kidney Transplantation: ApoL1 as a Case Study.
Ross Lainie Friedman et al. Progress in transplantation (Aliso Viejo, Calif.) 2016 Jun - Putting the Genome in Context: Gene-Environment Interactions in Type 2 Diabetes.
Franks Paul W et al. Current diabetes reports 2016 Jul 16(7) 57
Ethics, Policy and Law
- Ethics committee gives nod for CRISPR trials on humans
R Bazeley, PHG Foundation, June 23, 2016 - Legal approaches regarding health-care decisions involving minors: implications for next-generation sequencing.
Sénécal Karine et al. European journal of human genetics : EJHG 2016 Jun
Genomics in Practice
- Pre-Examination Factors Affecting Molecular Diagnostic Test Results and Interpretation: a Case-Based Approach.
Payne Deborah A et al. Clinica chimica acta; international journal of clinical chemistry 2016 Jun - Thirteen Years of an International External Quality Assessment Scheme for Genotyping: Results and Recommendations.
Haselmann Verena et al. Clinical chemistry 2016 Jun - Alternative RNA splicing: contribution to pain and potential therapeutic strategy.
Donaldson Lucy F et al. Drug discovery today 2016 Jun - The Healthy Aging Data Portal
- Effect of Public Deliberation on Attitudes toward Return of Secondary Results in Genomic Sequencing.
Gornick Michele C et al. Journal of genetic counseling 2016 Jun - Responding to the increased genetic risk associated with customary consanguineous marriage among minority ethnic populations: lessons from local innovations in England.
Salway Sarah et al. Journal of community genetics 2016 Jun - Personalizing Medicine: Disease Prevention in Silico and in Socio
S Green et al HM Journal Philos Studies, June 2016 - Stopping Listeria required an arsenal of tools and an army of experts
APHL, June 22, 2016 - Taming the genome: towards better genetic test interpretation
Caleshu C, et al. Genome Medicine 20168:70 - From the RNA world to the clinic.
Sullenger Bruce A et al. Science (New York, N.Y.) 2016 Jun 352(6292) 1417-20 - Blazing paths in genetic counseling
E Pain, Science Magazine, June 23, 2016
Cardiovascular Diseases
- Long Noncoding RNA: Recent Updates in Atherosclerosis.
Li Hao et al. International journal of biological sciences 2016 12(7) 898-910 - Who Pays? Coverage Challenges for Cardiovascular Genetic Testing in U.S. Patients.
Spoonamore Katherine G et al. Frontiers in cardiovascular medicine 2016 314 - From the RNA world to the clinic.
Sullenger Bruce A et al. Science (New York, N.Y.) 2016 Jun 352(6292) 1417-20 - The “Double” Paradox of Atrial Fibrillation in Black Individuals
TS Stamos et al, JAMA Cardiology, June 22, 2016
Newborn Screening
- Consent for newborn screening: parents' and health-care professionals' experiences of consent in practice.
Etchegary Holly et al. European journal of human genetics : EJHG 2016 Jun - Variants of uncertain significance in newborn screening disorders: implications for large-scale genomic sequencing.
Narravula Alekhya et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jun - Newborn genetic screening for hearing impairment: a population-based longitudinal study.
Wu Chen-Chi et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jun - Newborn Screening Programs and Sickle Cell Disease: A Public Health Services and Systems Approach.
Minkovitz Cynthia S et al. American journal of preventive medicine 2016 Jul 51(1 Suppl 1) S39-47 - Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation
AR Kemper et al, Genetics in Medicine, June 23, 2016
Reproductive Health
- Patient Decision Aids for Prenatal Genetic Testing: Probability, Embodiment, and Problematic Integration.
Kirkscey Russell et al. Health communication 2016 Jun 1-10 - Prenatal testing in Huntington disease: after the test, choices recommence.
Bouchghoul Hanane et al. European journal of human genetics : EJHG 2016 Jun - Background of couples undergoing non-invasive prenatal testing in Japan.
Takeda Eri et al. The journal of obstetrics and gynaecology research 2016 Jun - Second-generation non-invasive high-throughput DNA sequencing technology in the screening of Down's syndrome in advanced maternal age women.
Zhang Jiao et al. Biomedical reports 2016 Jun 4(6) 715-718 - The impact of prenatally diagnosed Klinefelter Syndrome on obstetric and neonatal outcomes.
Dotters-Katz Sarah K et al. European journal of obstetrics, gynecology, and reproductive biology 2016 Jun 203173-176
Pharmacogenomics
- EMR Documentation of Physician-Patient Communication Following Genomic Counseling for Actionable Complex Disease and Pharmacogenomic Results.
Sweet Kevin et al. Clinical genetics 2016 Jun - Comparison of genome sequencing and clinical genotyping for pharmacogenes.
Yang Wenjian et al. Clinical pharmacology and therapeutics 2016 Jun - Implementation of Clinical Pharmacogenomics within a Large Health System: From Electronic Health Record Decision Support to Consultation Services.
Hicks J Kevin et al. Pharmacotherapy 2016 Jun - FDA drug labeling: rich resources to facilitate precision medicine, drug safety, and regulatory science.
Fang Hong et al. Drug discovery today 2016 Jun - Guideline on good pharmacogenomic practice,
European Medicine Agency, Science Medicines Health, April 28, 2016 - Creating a scalable clinical pharmacogenomics service with automated interpretation and medical record result integration - experience from a pediatric tertiary care facility.
Manzi Shannon F et al. Journal of the American Medical Informatics Association : JAMIA 2016 Jun
News/Reviews/Commentaries
- Hilary Burton: Get on board with genomics—a call to all clinicians
BMJ, June 21, 2016 - First Human Test of CRISPR Proposed,
by Antonio Regalado , MIT Technology Review, June 16, 2016 - Updated NICE quality standard recommends Oncotype DX® in early-stage breast cancer,
Response Source, June 20, 2016
Events
- Tracking Environmental Health Data for Public Health Decision Making
CDC Grand Rounds, June 21, 2016
CDC-Authored Genomics Publications
- Complete Genome Sequences of Four Strains from the 2015-2016 Elizabethkingia anophelis Outbreak.
Nicholson Ainsley C, Whitney Anne M, Emery Brian D, Bell Melissa E, Gartin Jarrett T, Humrighouse Ben W, Loparev Vladimir N, Batra Dhwani, Sheth Mili, Rowe Lori A, Juieng Phalasy, Knipe Kristen, Gulvik Christopher, McQuiston John R Genome announcements 2016 0 0. (3) . - Use of Whole Genome Sequencing and Patient Interviews To Link a Case of Sporadic Listeriosis to Consumption of Prepackaged Lettuce.
Jackson K A, Stroika S, Katz L S, Beal J, Brandt E, Nadon C, Reimer A, Major B, Conrad A, Tarr C, Jackson B R, Mody R K Journal of food protection 2016 5 0. (5) 806-9. - Epidemiology of a Novel Recombinant MERS-CoV in Humans in Saudi Arabia.
Assiri Abdullah M, Midgley Claire M, Abedi Glen R, Bin Saeed Abdulaziz, Almasri Malak M, Lu Xiaoyan, Al-Abdely Hail M, Abdalla Osman, Mohammed Mutaz, Algarni Homoud S, Alhakeem Rafaat F, Sakthivel Senthilkumar K, Nooh Randa, Alshayab Zainab, Alessa Mohammad, Srinivasamoorthy Ganesh, AlQahtani Saeed Yahya, Kheyami Ali, HajOmar Waleed Husein, Banaser Talib M, Esmaeel Ahmad, Hall Aron J, Curns Aaron T, Tamin Azaibi, Alsharef Ali Abraheem, Erdman Dean, Watson John T, Gerber Susan I The Journal of infectious diseases 2016 6 0. . - Genotyping and Axenic Growth of Coxiella burnetii Isolates Found in the United States Environment.
Kersh Gilbert J, Priestley Rachael A, Hornstra Heidie M, Self Joshua S, Fitzpatrick Kelly A, Biggerstaff Brad J, Keim Paul, Pearson Talima, Massung Robert F Vector borne and zoonotic diseases (Larchmont, N.Y.) 2016 6 0. . - Penicillin-Binding Protein Transpeptidase Signatures for Tracking and Predicting β-Lactam Resistance Levels in Streptococcus pneumoniae.
Li Yuan, Metcalf Benjamin J, Chochua Sopio, Li Zhongya, Gertz Robert E, Walker Hollis, Hawkins Paulina A, Tran Theresa, Whitney Cynthia G, McGee Lesley, Beall Bernard W mBio 2016 0 0. (3) . - SSTAR, a Stand-Alone Easy-To-Use Antimicrobial Resistance Gene Predictor.
de Man Tom J B, Limbago Brandi M mSphere 0 0 0. (1) . - Genome Structural Diversity among 31 Bordetella pertussis Isolates from Two Recent U.S. Whooping Cough Statewide Epidemics.
Bowden Katherine E, Weigand Michael R, Peng Yanhui, Cassiday Pamela K, Sammons Scott, Knipe Kristen, Rowe Lori A, Loparev Vladimir, Sheth Mili, Weening Keeley, Tondella M Lucia, Williams Margaret M mSphere 0 0 0. (3) .
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.
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