Health Impact Weekly Scan
July 28 - August 4, 2016
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
- Involving Families with Osteogenesis Imperfecta in Health Service Research: Joint Development of the OI/ECE Questionnaire.
Dogba Maman Joyce et al. PloS one 2016 11(1) e0147654 - Knowledge of genetics in familial retinoblastoma.
Soliman Sameh E et al. Ophthalmic genetics 2016 Jul 1-7
Cancer
- Quality of Life and Psychological State in Chinese Breast Cancer Patients Who Received BRCA1/2 Genetic Testing.
Qiu Jiajia et al. PloS one 2016 11(7) e0158531 - Secondary consent to biospecimen use in a prostate cancer biorepository.
Drake Bettina F et al. BMC research notes 2016 9(1) 346 - The effect of referral for genetic counseling on genetic testing and surgical prevention in women at high risk for ovarian cancer: Results from a randomized controlled trial.
Drescher Charles W et al. Cancer 2016 Jul - Clinical benefit of a precision medicine based approach for guiding treatment of refractory cancers.
Radovich Milan et al. Oncotarget 2016 Jul - NCI Launches Cancer Patient Data Repository
Abbasi J. JAMA. 2016;316(4):384. doi:10.1001/jama.2016.9494. - The Significance of Proteomic Biomarkers in Male Breast Cancer.
Zografos Eleni et al. Cancer genomics & proteomics 13(3) 183-190 - Prostate and Colon Cancer News: The 2-Hit Hypothesis Revisited
R Lewis, PLOS Blogs, July 2016 - Screening for Skin Cancer- US Preventive Services Task Force Recommendation Statement
USPSTF, JAMA, July 26, 2016 - Genetic drivers of immune response to cancer discovered through 'big data' analysis
Medical News Today, July 20, 2016 - Validation and Implementation of a Custom Next-Generation Sequencing Clinical Assay for Hematologic Malignancies.
Kluk Michael J et al. The Journal of molecular diagnostics : JMD 2016 Jul 18(4) 507-15 - Budget impact and cost-effectiveness: can we afford precision medicine in oncology?
Doble Brett et al. Scandinavian journal of clinical and laboratory investigation 2016 Jul 1-6 - What Men Should Know About BRCA Variant Testing
M Jacobs, University of Michigan, July 22, 2016 - Patient/parent perspectives on genomic tumor profiling of pediatric solid tumors: The Individualized Cancer Therapy (iCat) experience.
Marron Jonathan M et al. Pediatric blood & cancer 2016 Jul - Randomized trial finds that prostate cancer genetic risk score feedback targets prostate-specific antigen screening among at-risk men.
Turner Aubrey R et al. Cancer 2016 Jul - Skin Cancer—The Importance of Prevention
E Linos et al, JAMA Internal Medicine, July 26,2016 - Male breast cancer is not congruent with the female disease.
Fentiman Ian S et al. Critical reviews in oncology/hematology 2016 May 101119-24
Chronic Diseases
- The Clinical and Public Health Challenges of Diabetes Prevention: A Search for Sustainable Solutions
NJ Warenham et al, PLOS Medicine, July 26, 2016 - Recent progress in genetics, epigenetics and metagenomics unveils the pathophysiology of human obesity.
Pigeyre Marie et al. Clinical science (London, England : 1979) 2016 Jun 130(12) 943-86 - Precision Medicine for Ischemic Stroke.
Rostanski Sara K et al. JAMA neurology 2016 Jul 73(7) 773-4 - The ‘Ice Bucket Challenge’ Helped Scientists Discover a New Gene Tied to A.L.S.
New York Times, July 27, 2016 - NIH working group report-using genomic information to guide weight management: From universal to precision treatment.
Bray Molly S et al. Obesity (Silver Spring, Md.) 2016 Jan 24(1) 14-22 - EULAR recommendations for the management of familial Mediterranean fever.
Ozen Seza et al. Annals of the rheumatic diseases 2016 Apr 75(4) 644-51 - Development of a curriculum in molecular diagnostics, genomics and personalized medicine for dermatology trainees.
Murphy Michael J et al. Journal of cutaneous pathology 2016 Jun - An Examination of Family, Healthcare Professionals, and Peer Advice on Physical Activity Behaviors among Adolescents at High Risk for Type 2 Diabetes.
Amuta Ann O et al. Health communication 2016 Jul 1-7 - Costs associated with hereditary haemochromatosis in Australia: a cost-of-illness study.
de Graaff Barbara et al. Australian health review : a publication of the Australian Hospital Association 2016 Jul - From animal models to human disease: a genetic approach for personalized medicine in ALS
V Picher-Martel et al, Acta Neuropathologica CommunicationsNeuroscience of Disease20164:70 - The genetics of obesity
Genomics Education UK, July 2016 - Familial Mediterranean fever.
Padeh Shai et al. Current opinion in rheumatology 2016 May - A Comprehensive Overview of the Hereditary Periodic Fever Syndromes.
Rigante Donato et al. Clinical reviews in allergy & immunology 2016 Apr - Leveraging Genetics to Advance Type 2 Diabetes Prevention
JC Florez, PLOS Medicine, July26, 2016 - AMD and the alternative complement pathway: genetics and functional implications
PL Tan et al, BMC Human Genomics, July 2016 - Familial Mediterranean fever: current perspectives.
Sönmez Hafize Emine et al. Journal of inflammation research 2016 913-20
Ethics, Policy and Law
- What Can a Hacker Do with Your Genetic Information?
By Kaleigh Rogers, Motherboard, July 26, 2016 - 10 Things to Know about the ADA and Beyond
Disability.gov newsletter, July 2016
Genomics in Practice
- A systematic review of interventions to provide genetics education for primary care.
Paneque Milena et al. BMC family practice 2016 17(1) 89 - Epigenetics, cellular memory and gene regulation
S Henikoff et al, Current Biology, July 25, 2016 - The Sangre Por Salud Biobank: Facilitating Genetic Research in an Underrepresented Latino Community.
Shaibi Gabriel et al. Public health genomics 2016 Jul - How many genomes is enough for US Precision Medicine Initiative?
By Meredith Knight, Genetic Literacy Project, July 26, 2016 - Evaluation: A Qualitative Pilot Study of Novel Information Technology Infrastructure to Communicate Genetic Variant Updates.
Klinkenberg-Ramirez Stephanie et al. Applied clinical informatics 2016 7(2) 461-76 - Conducting Precision Medicine Research with African Americans.
Halbert Chanita Hughes et al. PloS one 2016 11(7) e0154850 - Genomics in Clinical Practice, Part 1: The Rise of Multiplex Gene Testing for Cancer,
by Kate M. O'Rourke, Medscape, July 20, 2016
Cardiovascular Diseases
- Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity.
Garcia John et al. Frontiers in cardiovascular medicine 2016 320 - Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.
Methner D Nicole Riherd et al. Genome research 2016 Jul - Knowledge and Awareness of Familial Hypercholesterolaemia among Registered Medical Practitioners in Tamil Nadu: Are They Suboptimal?
Rangarajan Nandhini et al. Journal of clinical and diagnostic research : JCDR 2016 May 10(5) OC52-6 - A Digital Health Intervention to Lower Cardiovascular Risk: A Randomized Clinical Trial.
Anand Sonia S et al. JAMA cardiology 2016 May
Reproductive Health
- Evaluation of preferences of women and healthcare professionals in Singapore for implementation of noninvasive prenatal testing for Down syndrome.
Barrett Angela Natalie et al. Singapore medical journal 2016 Jun - Uptake, outcomes, and costs of implementing non-invasive prenatal testing for Down's syndrome into NHS maternity care: prospective cohort study in eight diverse maternity units.
Chitty Lyn S et al. BMJ (Clinical research ed.) 2016 354i3426 - Is there a Role for Genetic Counselors in Prenatal Paternity Testing? - an Assessment Based on Audit of 13 years of Clinical Experience in South Australia.
Riley Kate E et al. Journal of genetic counseling 2016 Jul
Pharmacogenomics
- Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC).
Caudle Kelly E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jul
News/Reviews/Commentaries
- Public is wary of using technologies to enhance human performance, survey finds,
by Jeffrey Mervis, Science Magazine, July 26, 2016 - Chinese scientists to pioneer first human CRISPR trial
D Cyranoski, Nature News, July 21, 2016
CDC-Authored Genomics Publications
- The Cancer Epidemiology Descriptive Cohort Database: A Tool to Support Population-Based Interdisciplinary Research.
Kennedy Amy E, Khoury Muin J, Ioannidis John P A, Brotzman Michelle, Miller Amy, Lane Crystal, Lai Gabriel Y, Rogers Scott D, Harvey Chinonye, Elena Joanne W, Seminara Daniela Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2016 7 0. . - Unique Presentation of Orf Virus Infection in a Thermal Burn Patient After Receiving an Autologous Skin Graft.
Hsu Christopher H, Rokni Ghasem Rahmatpour, Aghazadeh Nessa, Brinster Nooshin, Li Yu, Muehlenbachs Atis, Goldsmith Cynthia S, Zhao Hui, Petersen Brett, McCollum Andrea M, Reynolds Mary G The Journal of infectious diseases 2016 7 0. . - Antiretroviral Therapy for the Prevention of HIV-1 Transmission.
Cohen Myron S, Chen Ying Q, McCauley Marybeth, Gamble Theresa, Hosseinipour Mina C, Kumarasamy Nagalingeswaran, Hakim James G, Kumwenda Johnstone, Grinsztejn Beatriz, Pilotto Jose H S, Godbole Sheela V, Chariyalertsak Suwat, Santos Breno R, Mayer Kenneth H, Hoffman Irving F, Eshleman Susan H, Piwowar-Manning Estelle, Cottle Leslie, Zhang Xinyi C, Makhema Joseph, Mills Lisa A, Panchia Ravindre, Faesen Sharlaa, Eron Joseph, Gallant Joel, Havlir Diane, Swindells Susan, Elharrar Vanessa, Burns David, Taha Taha E, Nielsen-Saines Karin, Celentano David D, Essex Max, Hudelson Sarah E, Redd Andrew D, Fleming Thomas R, The New England journal of medicine 2016 7 0. . - Consensus Report of the 2015 Weinman International Conference on Mesothelioma.
Carbone Michele, Kanodia Shreya, Chao Ann, Miller Aubrey, Wali Anil, Weissman David, Adjei Alex, Baumann Francine, Boffetta Paolo, Buck Brenda, de Perrot Marc, Dogan A Umran, Gavett Steve, Gualtieri Alessandro, Hassan Raffit, Hesdorffer Mary, Hirsch Fred R, Larson David, Mao Weimin, Masten Scott, Pass Harvey I, Peto Julian, Pira Enrico, Steele Ian, Tsao Anne, Woodard Gavitt Alida, Yang Haining, Malik Shakun Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2016 8 0. (8) 1246-62. - An integrated genomic and transcriptomic survey of mucormycosis-causing fungi.
Chibucos Marcus C, Soliman Sameh, Gebremariam Teclegiorgis, Lee Hongkyu, Daugherty Sean, Orvis Joshua, Shetty Amol C, Crabtree Jonathan, Hazen Tracy H, Etienne Kizee A, Kumari Priti, O'Connor Timothy D, Rasko David A, Filler Scott G, Fraser Claire M, Lockhart Shawn R, Skory Christopher D, Ibrahim Ashraf S, Bruno Vincent M Nature communications 2016 0 0. 12218. - Antiretroviral Therapy for the Prevention of HIV-1 Transmission.
Cohen Myron S, Chen Ying Q, McCauley Marybeth, Gamble Theresa, Hosseinipour Mina C, Kumarasamy Nagalingeswaran, Hakim James G, Kumwenda Johnstone, Grinsztejn Beatriz, Pilotto Jose H S, Godbole Sheela V, Chariyalertsak Suwat, Santos Breno R, Mayer Kenneth H, Hoffman Irving F, Eshleman Susan H, Piwowar-Manning Estelle, Cottle Leslie, Zhang Xinyi C, Makhema Joseph, Mills Lisa A, Panchia Ravindre, Faesen Sharlaa, Eron Joseph, Gallant Joel, Havlir Diane, Swindells Susan, Elharrar Vanessa, Burns David, Taha Taha E, Nielsen-Saines Karin, Celentano David D, Essex Max, Hudelson Sarah E, Redd Andrew D, Fleming Thomas R, The New England journal of medicine 2016 7 0. . - Tick-Borne Relapsing Fever Outbreak Among a High School Football Team at an Outdoor Education Camping Trip, Arizona, 2014.
Jones Jefferson M, Hranac Carter R, Schumacher Mare, Horn Kim, Lee Darlene M, Terriquez Joel, Engelthaler David M, Peoples Marie, Corrigan Jennifer, Replogle Adam, Souders Nina, Komatsu Kenneth K, Nieto Nathan C The American journal of tropical medicine and hygiene 2016 7 0. . - Plasmodium falciparum Drug-Resistant Haplotypes and Population Structure in Postearthquake Haiti, 2010.
Morton Lindsay Carol, Huber Curtis, Okoth Sheila Akinyi, Griffing Sean, Lucchi Naomi, Ljolje Dragan, Boncy Jacques, Oscar Roland, Townes David, McMorrow Meredith, Chang Michelle A, Udhayakumar Venkatachalam, Barnwell John W The American journal of tropical medicine and hygiene 2016 7 0. .
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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