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
- Parents' experiences with requesting carrier testing for their unaffected children.
Vears Danya F et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar - Screening for fragile X syndrome in males from specialized institutions in the northeast region of Brazil.
Viveiros M T M et al. Genetics and molecular research : GMR 2015 14(2) 6897-905 - Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China.
Wu Hong et al. PloS one 2016 11(3) e0151909 - A Genetic Test Predicts Providence Brace Success for Adolescent Idiopathic Scoliosis When Failure Is Defined as Progression to >45 Degrees.
Bohl Daniel D et al. Clinical spine surgery 2016 Apr 29(3) E146-50 - Technology Assessment at SickKids,
Reports and summaries, SickKids - A Microcosting and Cost-Consequence Analysis of Genomic Testing Strategies in Autism Spectrum Disorder[PDF 1.42 MB]
Tsiplova K, et al. The Hospital for Sick Children Technology Assessment at SickKids (Task) - Personalized medicine promises better treatment options for cystic fibrosis patients,
News-Medical.net, March 25, 2016 - Low-complexity biotechnology and everyday aspects of "care:" neonatal testing and sickle cell diagnosis in Brazil.
Calvo-González Elena et al. Historia, ciencias, saude--Manguinhos 2016 Mar 23(1) 79-94 - Highlighting the impact of cascade carrier testing in cystic fibrosis families.
Duguépéroux Ingrid et al. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2016 Mar - Clinical relevance and cost-effectiveness of HLA genotyping in children with Type 1 diabetes mellitus in screening for coeliac disease in the Netherlands.
Elias J et al. Diabetic medicine : a journal of the British Diabetic Association 2015 Jun 32(6) 834-8
Cancer
- Lynch syndrome in South America: past, present and future.
Vaccaro Carlos A et al. Familial cancer 2016 Mar - Genetic testing for Lynch syndrome in the province of Ontario.
Wang Marina et al. Cancer 2016 Mar - SMART precision cancer medicine: a FHIR-based app to provide genomic information at the point of care.
Warner Jeremy L et al. Journal of the American Medical Informatics Association : JAMIA 2016 Mar - 21-Gene Recurrence Score Assay As a Predictor of Adjuvant Chemotherapy Administration for Early-Stage Breast Cancer: An Analysis of Use, Therapeutic Implications, and Disparity Profile.
Jasem Jagar et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Mar - Prognostic Impact of 21-Gene Recurrence Score in Patients With Stage IV Breast Cancer: TBCRC 013.
King Tari A et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Mar - Prediction of Melanoma Risk in a Southern European Population Based on a Weighted Genetic Risk Score.
Kypreou Katerina P et al. The Journal of investigative dermatology 2016 Mar 136(3) 690-5 - Use of comprehensive genomic profiling to direct point-of-care management of patients with gynecologic cancers.
Rodriguez-Rodriguez Lorna et al. Gynecologic oncology 2016 Apr 141(1) 2-9 - BRCA testing, treatment patterns and survival in platinum-sensitive recurrent ovarian cancer - an observational cohort study.
Unni Sudhir K et al. Journal of ovarian research 2016 9(1) 18 - Cost-effectiveness of using a gene expression profiling test to aid in identifying the primary tumour in patients with cancer of unknown primary.
Hannouf M B et al. The pharmacogenomics journal 2016 Mar - NGS-based BRCA1/2 mutation testing of high-grade serous ovarian cancer tissue: results and conclusions of the first international round robin trial.
Endris Volker et al. Virchows Archiv : an international journal of pathology 2016 Mar - Translating genomics: cancer genetics, public health and the making of the (de)molecularised body in Cuba and Brazil.
Gibbon Sahra et al. Histo´ria, cie^ncias, sau´de--Manguinhos 2016 Mar 23(1) 95-112 - Role of Patient and Disease Factors in Adjuvant Systemic Therapy Decision Making for Early-Stage, Operable Breast Cancer: American Society of Clinical Oncology Endorsement of Cancer Care Ontario Guideline Recommendations.
Henry N Lynn et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2016 Mar
Chronic Diseases
- Survey of healthcare experiences of Australian adults living with rare diseases.
Molster Caron et al. Orphanet journal of rare diseases 2016 11(1) 30 - Implementation of personalized medicine for fracture risk assessment in osteoporosis.
Mori Seijiro et al. Geriatrics & gerontology international 2016 Mar 16 Suppl 157-65 - A Survey of Knowledge and Views Concerning Genetic and Amyloid PET Status Disclosure.
Ott B R et al. Alzheimer's & dementia : translational research & clinical interventions 2016 Jan 2(1) 23-29
Ethics, Policy and Law
- Legislation on Genetic Diagnosis: Comparison of South Korea and Germany: - With Focus on the Application and Communication Structure.
Kim Na-Kyoung et al. Development & reproduction 2015 Jun 19(2) 111-8 - Direct to consumer genetic testing and the libertarian right to test.
Loi Michele et al. Journal of medical ethics 2016 Mar - Shedding Privacy Along With our Genetic Material: What Constitutes Adequate Legal Protection against Surreptitious Genetic Testing?
Strand Nicolle K et al. AMA journal of ethics 2016 18(3) 264-71 - RESEARCH ETHICS. Ethics review for international data-intensive research.
Dove Edward S et al. Science (New York, N.Y.) 2016 Mar 351(6280) 1399-400 - Ethical qualms about genetic prognosis.
Dickenson Donna et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2016 Mar - CMAJ Podcasts: Ethical qualms about genetic prognosis
Interview with Donna Dickenson, emeritus professor of medical ethics and humanities at the University of London. - Public Attitudes toward an Epidemiological Study with Genomic Analysis in the Great East Japan Earthquake Disaster Area.
Ishikuro Mami et al. Prehospital and disaster medicine 2016 Mar 1-5
Genomics in Practice
- SMART Health IT,
An App Platform for Healthcare - Patient safety in genomic medicine: an exploratory study.
Korngiebel Diane M et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Mar - Patients' perceived utility of whole-genome sequencing for their healthcare: findings from the MedSeq project.
Lupo Philip J et al. Personalized medicine 2016 Jan 13(1) 13-20 - Personal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq Consortium.
Linderman Michael D et al. Journal of personalized medicine 6(2) - Emerging Genetic Counselor Roles within the Biotechnology and Pharmaceutical Industries: as Industry Interest Grows in Rare Genetic Disorders, How are Genetic Counselors Joining the Discussion?
Field Tessa et al. Journal of genetic counseling 2016 Mar
Cardiovascular Diseases
- Treatment Gaps in Adults with Heterozygous Familial Hypercholesterolemia in the United States: Data from the CASCADE-FH Registry.
deGoma Emil M et al. Circulation. Cardiovascular genetics 2016 Mar
Newborn Screening
- Challenges for Worldwide Harmonization of Newborn Screening Programs.
Martínez-Morillo Eduardo et al. Clinical chemistry 2016 Mar
Reproductive Health
- Obstetric and neonatal outcomes in blastocyst-stage biopsy with frozen embryo transfer and cleavage-stage biopsy with fresh embryo transfer after preimplantation genetic diagnosis/screening.
Jing Shuang et al. Fertility and sterility 2016 Mar - Next generation sequencing for preimplantation genetic testing of blastocysts aneuploidies in women of different ages.
Lukaszuk Krzysztof et al. Annals of agricultural and environmental medicine : AAEM 2016 Mar 23(1) 163-6 - A pilot proof-of-principle study to compare fresh and vitrified cycle preimplantation genetic screening by chromosome microarray and next generation sequencing.
Ma Gwo-Chin et al. Molecular cytogenetics 2016 925
Pharmacogenomics
- A Bayesian Estimation Framework for Pharmacogenomics Driven Warfarin Dosing: A Comparative Study.
Öztaner Serdar Murat et al. IEEE journal of biomedical and health informatics 2015 Sep 19(5) 1724-33
Tools and Databases
- Operating on Genomic Ranges Using BEDOPS.
Neph Shane et al. Methods in molecular biology (Clifton, N.J.) 2016 1418267-81 - BEDOPS: the fast, highly scalable and easily-parallelizable genome analysis toolkit
- DNAdigest and Repositive: Connecting the World of Genomic Data.
Kovalevskaya Nadezda V et al. PLoS biology 2016 Mar 14(3) e1002418 - Repositive,
Find genomic data relevant to your work, collaborate on data projects and make your datasets discoverable and accessible.
News/Reviews/Commentaries
- Top Ten Tech Trends: EHRs Must Evolve in the Age of Genomic Data,
by David Raths, Healthcare Informatics, March 25, 2016 - New calculations expose racial differences for inherited high cholesterol,
American Heart Association, March 25, 2016 - If we don’t own our genes, what protects study subjects in genetic research?
By Leslie E. Wolf, Erin Fuse Brown & Laura Beskow, The Conversation, March 28, 2016 - A twist on the genetic link between Alzheimer’s and heart disease,
by Julie Corliss, Harvard Health Blog, March 25, 2016 - Genetic changes that cause autism are more diverse than previously thought,
EurekAlert, March 24, 2016
CDC-Authored Genomics Publications
- Changes in the expression of calcitonin gene-related peptide after exposure to injurious stretch-shortening contractions.
Johnson C, Miller G R, Baker B A, Hollander M, Kashon M L, Waugh S, Krajnak K Experimental gerontology 2016 3 0. 1-7. - A cationic liposome-DNA complexes adjuvant (JVRS-100) enhances the immunogenicity and cross-protective efficacy of pre-pandemic influenza A (H5N1) vaccine in ferrets.
Liu Feng, Sun Xiangjie, Fairman Jeffery, Lewis David B, Katz Jacqueline M, Levine Min, Tumpey Terrence M, Lu Xiuhua Virology 2016 3 0. 197-203. - Multistate Outbreak of Respiratory Infections among Unaccompanied Children, June-July 2014.
Tomczyk Sara, Arriola Carmen S, Beall Bernard, Benitez Alvaro, Benoit Stephen R, Berman LaShondra, Bresee Joseph, da Gloria Carvalho Maria, Cohn Amanda, Cross Kristen, Diaz Maureen H, Francois Watkins Louise K, Gierke Ryan, Hagan Jose E, Harris Aaron, Jain Seema, Kim Lindsay, Kobayashi Miwako, Lindstrom Stephen, McGee Lesley, McMorrow Meredith, Metcalf Benjamin L, Moore Matthew R, Moura Iaci, Nix W Allan, Nyangoma Edith, Oberste M Steven, Olsen Sonja J, Pimenta Fabiana, Socias Christina, Thurman Kathleen, Waller Jessica, Waterman Stephen H, Westercamp Matthew, Wharton Melinda, Whitney Cynthia G, Winchell Jonas M, Wolff Bernard, Kim Curi Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2016 3 0. . - Advanced molecular detection of malarone resistance.
Talundzic Eldin, Plucinski Mateusz M, Biliya Shweta, Silva-Flannery Luciana M, Arguin Paul M, Halsey Eric S, Barnwell John W, Vannberg Fredrik, Udhayakumar Venkatachalam Antimicrobial agents and chemotherapy 2016 3 0. . - Genome-wide siRNA Screening at Biosafety Level 4 Reveals a Crucial Role for Fibrillarin in Henipavirus Infection.
Deffrasnes Celine, Marsh Glenn A, Foo Chwan Hong, Rootes Christina L, Gould Cathryn M, Grusovin Julian, Monaghan Paul, Lo Michael K, Tompkins S Mark, Adams Timothy E, Lowenthal John W, Simpson Kaylene J, Stewart Cameron R, Bean Andrew G D, Wang Lin-Fa PLoS pathogens 2016 3 0. (3) e1005478. - Genetically Diverse Low Pathogenicity Avian Influenza A Virus Subtypes Co-Circulate among Poultry in Bangladesh.
Gerloff Nancy A, Khan Salah Uddin, Zanders Natosha, Balish Amanda, Haider Najmul, Islam Ausraful, Chowdhury Sukanta, Rahman Mahmudur Ziaur, Haque Ainul, Hosseini Parviez, Gurley Emily S, Luby Stephen P, Wentworth David E, Donis Ruben O, Sturm-Ramirez Katharine, Davis C Todd PloS one 2016 0 0. (3) e0152131. - Molecular and Phenotypic Characterization of a Highly Evolved Type 2 Vaccine-Derived Poliovirus Isolated from Seawater in Brazil, 2014.
Cassemiro Klécia Marília S de Melo, Burlandy Fernanda M, Barbosa Mikaela R F, Chen Qi, Jorba Jaume, Hachich Elayse M, Sato Maria I Z, Burns Cara C, da Silva Edson E PloS one 2016 0 0. (3) e0152251. - The Evolution of Advanced Molecular Diagnostics for the Detection and Characterization of Mycoplasma pneumoniae.
Diaz Maureen H, Winchell Jonas M Frontiers in microbiology 2016 0 0. 232. - Maternal phthalate exposure during pregnancy is associated with DNA methylation of LINE-1 and Alu repetitive elements in Mexican-American children.
Huen Karen, Calafat Antonia M, Bradman Asa, Yousefi Paul, Eskenazi Brenda, Holland Nina Environmental research 2016 3 0. 55-62. - Adherence of Primary Care Physicians to Evidence-Based Recommendations to Reduce Ovarian Cancer Mortality.
Stewart Sherri L, Townsend Julie S, Puckett Mary C, Rim Sun Hee Journal of women's health (2002) 2016 3 0. (3) 235-41. - Incidence of Hepatocellular Carcinoma According to Hepatitis B Virus Genotype in Alaska Native People.
Ching Lance K, Gounder Prabhu P, Bulkow Lisa, Spradling Philip R, Bruce Michael, Negus Susan, Snowball Mary, McMahon Brian J Liver international : official journal of the International Association for the Study of the Liver 2016 3 0. .
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