Health Impact Weekly Scan
About the 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
- "Prader-Willi Syndrome: Clinical Genetics and Diagnostic Aspects with Treatment Approaches".
Butler Merlin G et al. Current pediatric reviews 2015 Nov
- Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision).
et al. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2015 Jul 24(3) 77-105
- High cost effectiveness of newborn screening for sickle cell disease in resource-limited Angola.
Long Sarah S et al. The Journal of pediatrics 2015 Dec 167(6) 1179-82
- Molecular analysis of patients suspected of Fragile X Syndrome.
Amancio A P et al. Genetics and molecular research : GMR 2015 14(4) 14660-9
- Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management, and follow-up of the syndrome.
Mussa Alessandro et al. European journal of medical genetics 2015 Nov
- Finding Motivation: Online Information Seeking Following Newborn Screening for Cystic Fibrosis.
Strekalova Yulia A et al. Qualitative health research 2015 Nov
- Oncologists Encouraged to Learn More About Lesser-Known Heritable Gastrointestinal Cancers,
by Caroline Helwick, November 25, 2015
- Liquid Biopsies,
by Jeffry S. Buguliskik, Clinical OMICs, December 2015
- Understanding of BRCA VUS genetic results by breast cancer specialists.
Eccles B K et al. BMC cancer 2015 15(1) 936
- Adjuvant Chemotherapy Use and Health Care Costs After Introduction of Genomic Testing in Breast Cancer.
Epstein Andrew J et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2015 Nov
- Longer term effects of the Angelina Jolie effect: increased risk-reducing mastectomy rates in BRCA carriers and other high-risk women.
Evans D Gareth et al. Breast cancer research : BCR 2015 17(1) 143
- Management of Thyroid Nodular Disease: Current Cytopathology Classifications and Genetic Testing.
Kuo Lindsay E et al. Surgical oncology clinics of North America 2016 Jan 25(1) 1-16
- Prospective Evaluation of the 21-Gene Recurrence Score Assay for Breast Cancer Decision-Making in Ontario.
Levine Mark N et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2015 Nov
- Journey through the clinics - The experience of a woman with BRCA2.
Abernethy Kathy et al. Post reproductive health 2015 Dec 21(4) 158-60
- Comparison of Oncotype DX Recurrence Score by Histologic Types of Breast Carcinoma.
Bomeisl Philip E et al. Archives of pathology & laboratory medicine 2015 Dec 139(12) 1546-9
- Effect of Gene Expression Classifier Molecular Testing on the Surgical Decision-Making Process for Patients With Thyroid Nodules.
Noureldine Salem I et al. JAMA otolaryngology-- head & neck surgery 2015 Nov 1082-1088
- Experience with targeted next generation sequencing for the care of lung cancer: insights into promises and limitations of genomic oncology in day-to-day practice.
Rangachari Deepa et al. Cancer treatment communications 4174-181
- Maternal Malignancies Detected With Noninvasive Prenatal Testing.
Sistermans Erik et al. JAMA 2015 Nov 314(20) 2192
- Universal Screening of Colorectal Cancers for Lynch Syndrome: Challenges and Opportunities.
Vindigni Stephen M et al. Digestive diseases and sciences 2015 Nov
- Germline Findings in Tumor-Only Sequencing: Points to Consider for Clinicians and Laboratories.
Raymond Victoria M et al. Journal of the National Cancer Institute 2016 Apr 108(4)
- Genetic Risk Score Distinguishes Between Diabetes Types,
by Miriam E Tucker, Medscape, November 23, 2015
Ethics, Policy and Law
- Attitudes towards the sharing of genetic information with at-risk relatives: results of a quantitative survey.
Heaton Timothy J et al. Human genetics 2015 Nov
- Germ line genome editing in clinics: the approaches, objectives and global society.
Ishii Tetsuya et al. Briefings in functional genomics 2015 Nov
- The Privacy Challenges We All Face With Our Personal Genomes,
by Manuel Corpas, Front Line Genomics, November 30, 2015
- The Public Health Evidence for FDA Oversight of Laboratory Developed Tests: 20 Case Studies,
FDA, November 18, 2015
- The Legal Environment for Precision Medicine.
Thompson Bradley et al. Clinical pharmacology and therapeutics 2015 Nov
Genomics in Practice
- Family history intake: a challenge to personalized approaches in health promotion and disease prevention.
Endevelt Ronit et al. Israel journal of health policy research 460
- PART of the WHOLE: A Case Study in Wellness-Oriented Personalized Medicine.
Gibson Greg et al. The Yale journal of biology and medicine 2015 Dec 88(4) 397-406
- Practical considerations in genomic decision support: The eMERGE experience.
Herr Timothy M et al. Journal of pathology informatics 650
- Practical Advice for Developing a Genetic Testing Program,
by Theodore Bosworth, Medscape, November 30, 2015
- Statement of principles on the return of research results and incidental findings in paediatric research: a multi-site consultative process.
Sénécal Karine et al. Genome / National Research Council Canada = Genome / Conseil national de recherches Canada 2015 Nov 1-8
- Protocol for the "Implementation, adoption, and utility of family history in diverse care settings" study.
Wu R Ryanne et al. Implementation science : IS 2015 10(1) 163
- PCSK9 Inhibitors for Treating High Cholesterol.
Jin J. JAMA. 2015 Dec 1;314(21):2320.
- Improving detection of familial hypercholesterolaemia in primary care using electronic audit and nurse-led clinics.
Green Peter et al. Journal of evaluation in clinical practice 2015 Nov
- CardioGenBase: A Literature Based Multi-Omics Database for Major Cardiovascular Diseases.
V Alexandar et al. PloS one 10(12) e0143188
- Reliability and Validity of the March of Dimes Preconception/Prenatal Family Health History Questionnaire: the Persian Version.
Mashhadi Abdolahi Hossein et al. Congenital anomalies 2015 Nov
- The use of pharmacogenetics in clinical practice for the treatment of individuals with HIV infection in Thailand.
Bushyakanist Asalaysa et al. Pharmacogenomics and personalized medicine 8163-170
- The 3-I framework: a framework for developing public policies regarding pharmacogenomics (PGx) testing in Canada.
Bashir Naazish S et al. Genome / National Research Council Canada = Genome / Conseil national de recherches Canada 2015 Nov 1-14
- Cost-effectiveness of CYP2B6 genotyping to optimize efavirenz dosing in HIV clinical practice.
Schackman Bruce R et al. Pharmacogenomics 2015 Nov
- The role of ADME pharmacogenomics in early clinical trials: perspective of the Industry Pharmacogenomics Working Group (I-PWG).
Tremaine Larry et al. Pharmacogenomics 2015 Nov
- EHR based Genetic Testing Knowledge Base (iGTKB) Development.
Zhu Qian et al. BMC medical informatics and decision making 2015 Nov 15(Suppl 4) S3
Tools and Databases
- Database resources of the National Center for Biotechnology Information.
et al. Nucleic acids research 2015 Nov
- Charting a course for genomic sequencing in patient care,
NHGRI, November 25, 2015
- Parents May Pass Down More Than Just Genes, Study Suggests,
by Carl Zimmer, New York Times, December 3, 2015
- Genes Fit? Genetic Testing Joins Wellness Options,
by Rita Pyrillis, Workforce, November 23, 2015
- A debate: Should we edit the human germline?
By Patrick Skerrett , Stat News, November 30, 2015
- No longer invisible: the faces of rare disease,
by Melissa Bailey, Stat News, November 30, 2015
- Epigenetics the real key to everything?
Genomics Education Programme, November 26, 2015
- San Diego Blood Donors Get Free Genome Sequencing,
by David Wagner, KBPS, November 24, 2015
- DNA repair factor linked to breast cancer may also play a role in Alzheimers disease,
NIH News, November 30, 2015
- Genetic Risk Information for Coronary Heart Disease Leads to Lower Bad Cholesterol,
Mayo Clinic, December 1, 2015
- The Angelina Jolie effect,
by Sarah Theissen, BioMed Central Blog, November 25, 2015
- Precision Medicine: Who Will Own the Data?
Medscape, November 24, 2015
- FDA approves rosuvastatin for use in youth aged 8 to 17 with HeFH,
Healio, November 30, 2015
- ASCO: Expanded genetic testing should be standard for metastatic colorectal cancer,
Healio, November 25, 2015
- The promise of gene editing,
by Fergus Walsh, BBC News, December 1, 2015
- Genetic Testing: What It Means for You and Your Family,
Everyday Health, December 2, 2015
- Gene Editing Gets Easier as Experts Discuss Fears,
by Maggie Fox, NBC News, December 1, 2015
CDC-Authored Genomics Publications
- Suppression of basal and carbon nanotube-induced oxidative stress, inflammation and fibrosis in mouse lungs by Nrf2.
Dong Jie, Ma Qiang Nanotoxicology 2015 11 0. 1-11.
- Molecular, serological and in vitro culture-based characterization of Bourbon virus, a newly described human pathogen of the genus Thogotovirus.
Lambert Amy J, Velez Jason O, Brault Aaron C, Calvert Amanda E, Bell-Sakyi Lesley, Bosco-Lauth Angela M, Staples J Erin, Kosoy Olga I Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology 2015 10 0. 127-132.
- Coexistence of Bartonella henselae and B. clarridgeiae in populations of cats and their fleas in Guatemala.
Bai Ying, Rizzo Maria Fernanda, Alvarez Danilo, Moran David, Peruski Leonard F, Kosoy Michael Journal of vector ecology : journal of the Society for Vector Ecology 2015 12 0. (2) 327-32.
- Peginterferon plus Ribavirin for HIV-infected Patients with Treatment-Naïve Acute or Chronic HCV Infection in Taiwan: A Prospective Cohort Study.
Liu Chen-Hua, Sheng Wang-Hui, Sun Hsin-Yun, Hsieh Szu-Min, Lo Yi-Chun, Liu Chun-Jen, Su Tung-Hung, Yang Hung-Chih, Liu Wen-Chun, Chen Pei-Jer, Chen Ding-Shinn, Hung Chien-Ching, Kao Jia-Horng Scientific reports 2015 0 0. 17410.
- A Field-Validated Approach Using Surveillance and Genotyping Data to Estimate Tuberculosis Attributable to Recent Transmission in the United States.
France Anne Marie, Grant Juliana, Kammerer J Steve, Navin Thomas R American journal of epidemiology 2015 11 0. (9) 799-807.
- Using Molecular HIV Surveillance Data to Understand Transmission Between Subpopulations in the United States.
Oster Alexandra M, Wertheim Joel O, Hernandez Angela L, Ocfemia Marie Cheryl Bañez, Saduvala Neeraja, Hall H Irene Journal of acquired immune deficiency syndromes (1999) 2015 12 0. (4) 444-51.
- Representativeness of Tuberculosis Genotyping Surveillance in the United States, 2009-2010.
Shak Emma B, France Anne Marie, Cowan Lauren, Starks Angela M, Grant Juliana Public health reports (Washington, D.C. : 1974) 0 0 0. (6) 596-601.
- Molecular genotyping and quantitation assay for rotavirus surveillance.
Liu Jie, Lurain Kate, Sobuz Shihab U, Begum Sharmin, Kumburu Happiness, Gratz Jean, Kibiki Gibson, Toney Denise, Gautam Rashi, Bowen Michael D, Petri William A, Haque Rashidul, Houpt Eric R Journal of virological methods 2015 3 0. 157-63.
- Outcomes of in vitro fertilization with preimplantation genetic diagnosis: an analysis of the Unites States Assisted Reproductive Technology Surveillance Data, 2011-2012.
Chang Jeani, Boulet Sheree L, Jeng Gary, Flowers Lisa, Kissin Dmitry M Fertility and sterility 2015 11 0. .
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