Publication Date: Feb 16, 2017
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
- Collaboration matters when looking for answers to undiagnosed diseases
Lab Blog, Baylor Medicine, February 10, 2017 - Parents' Attitudes toward Genetic Testing of Children for Health Conditions: A Systematic Review.
Lim Qishan et al. Clinical genetics 2017 Feb - FDA approves drug to treat Duchenne muscular dystrophy
Reuters Health, February 9, 2017 - Researchers find genetic cause of new type of muscular dystrophy
Medical Xpress, February 9, 2017
Cancer
- Telomere Length and Breast Cancer Prognosis: A Systematic Review.
Ennour-Idrissi Kaoutar et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2017 Jan 26(1) 3-10 - Six Serum-Based miRNAs as Potential Diagnostic Biomarkers for Gastric Cancer.
Huang Zebo et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2017 Feb 26(2) 188-196 - Racial disparities in BRCA testing and cancer risk management across a population-based sample of young breast cancer survivors.
Cragun Deborah et al. Cancer 2017 Feb - Implementing Genome-Driven Oncology.
Hyman David M et al. Cell 2017 Feb 168(4) 584-599 - Primary, Adaptive, and Acquired Resistance to Cancer Immunotherapy.
Sharma Padmanee et al. Cell 2017 Feb 168(4) 707-723 - Family History in Colonoscopy Patients: Feasibility and Performance of Electronic and Paper-based Surveys for Colorectal Cancer Risk Assessment in the Outpatient Setting.
Guivatchian Tannaz et al. Gastrointestinal endoscopy 2017 Feb - Universal screening for Lynch syndrome among patients with colorectal cancer: patient perspectives on screening and sharing results with at-risk relatives.
Hunter Jessica Ezzell et al. Familial cancer 2017 Feb - The association between prognosis of breast cancer and first-degree family history of breast or ovarian cancer: a systematic review and meta-analysis.
Song Jun-Long et al. Familial cancer 2017 Feb - Change in Breast Cancer Screening Intervals Since the 2009 USPSTF Guideline.
Wernli Karen J et al. Journal of women's health (2002) 2017 Feb - Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2.
Ahmadloo Somayeh et al. Journal of human genetics 2017 Feb - Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology.
Sepulveda Antonia R et al. The Journal of molecular diagnostics : JMD 2017 Mar 19(2) 187-225 - Impact of country of birth on genetic testing of metastatic lung adenocarcinomas in France: African women exhibit a mutational spectrum more similar to Asians than to Caucasians.
Saffroy Raphael et al. Oncotarget 2017 Feb - Use of multigene-panel identifies pathogenic variants in several CRC-predisposing genes in patients previously tested for Lynch Syndrome.
Hansen Maren F et al. Clinical genetics 2017 Feb - Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.
Hamblin Angela et al. PLoS medicine 2017 Feb 14(2) e1002230 - Telomeres in cancer: tumour suppression and genome instability.
Maciejowski John et al. Nature reviews. Molecular cell biology 2017 - New ‘blood biopsies’ with experimental device may improve cancer diagnosis and follow-up
Science Magazine, February 13, 2017 - What happens when a man gets breast cancer
The Star, February 11, 2017
Chronic Diseases
- The genetic background of inflammatory bowel disease: from correlation to causality.
Uniken Venema Werna Tc et al. The Journal of pathology 2017 Jan 241(2) 146-158 - Gene discovery in amyotrophic lateral sclerosis: implications for clinical management.
Al-Chalabi Ammar et al. Nature reviews. Neurology 2017 Feb 13(2) 96-104 - Genetics insight into the amyotrophic lateral sclerosis/frontotemporal dementia spectrum.
Ji Ai-Ling et al. Journal of medical genetics 2017 Jan - Screening of female family members of von Willebrand disease patients: utility of a modified screening tool in a high-risk population.
Faiz A S et al. Haemophilia : the official journal of the World Federation of Hemophilia 2017 Feb - An observational study of the impact of genetic testing for pain perception in the clinical management of chronic non-cancer pain.
Sharma Maneesh et al. Journal of psychiatric research 2017 Jan 8965-72 - ATSDR’s ALS Registry Launches the ALS Biorepository
Genomics in Practice
- In the Clinic: Hospitals Break Down Silos to Combine Clinical and Genomic Data in the EHR
CLinical Omics, February 2017 - Ethicists advise caution in applying CRISPR gene editing to humans
J Achenbach, Washington Post, February 14, 2017 - Are evidence standards different for genomic- vs. clinical-based precision medicine? - A quantitative analysis of individualized warfarin therapy.
Dhanda Devender S et al. Clinical pharmacology and therapeutics 2017 Feb - How Genome Editing Could Enter Mainstream Medicine
Genomics Education Program, UK, February 13, 2017 - Acknowledging and Overcoming Nonreproducibility in Basic and Preclinical Research.
Ioannidis John P A et al. JAMA 2017 Feb - Overcoming hurdles in CRISPR gene editing to improve treatment
Science Magazine, February 7, 2017 - US science advisers outline path to genetically modified babies
Sara Reardon, Nature News, February 14, 2017 - Human Genome Editing: Science, Ethics, and Governance
National Academies Report, February 2017
Cardiovascular Diseases
- Inherited Thrombophilia
S Collins, Genome Magazine, January 2017 - The role of registries and genetic databases in familial hypercholesterolemia.
Kindt Iris et al. Current opinion in lipidology 2017 Feb - Cost-effectiveness of a cascade screening program for the early detection of familial hypercholesterolemia
P Lazaro et al., J Clin Lipidology, February 2017. - Big Data, Health Informatics, and the Future of Cardiovascular Medicine
J Kim et al, JACC, February 2017 - A Valentine for You, from Cardiovascular Genetic Counselors
My Gene Counsel, February 9, 2017
Reproductive Health
- "I think we've got too many tests!": Prenatal providers' reflections on ethical and clinical challenges in the practice integration of cell-free DNA screening.
Gammon B L et al. Ethics, medicine, and public health 2(3) 334-342
Pharmacogenomics
- Pharmacogenomics in epilepsy.
Balestrini Simona et al. Neuroscience letters 2017 Jan - Epilepsy-associated genes.
Wang Jie et al. Seizure 2017 Jan 4411-20
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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