Publication Date: Aug 9, 2018
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. View Data Selection Criteria
Human Genomics across the Lifespan
Birth Defects and Child Health
- Information needs in genetic testing: A needs assessment survey among Taiwanese parents of children with autism spectrum disorders.
Chen Lei-Shih et al. Autism : the international journal of research and practice 2018 Aug 1362361318778903 - Identifying the educational needs of physicians in pediatric epilepsy in order to improve care: results from a needs assessment in Germany, Spain, and the United States.
Murray Suzanne et al. Epileptic disorders : international epilepsy journal with videotape 2018 Aug - She had a lot of rashes, but don’t all kids?
SG Boodman, Washington Post, July 2018 - High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia.
Kang Ce et al. Cerebellum (London, England) 2018 Aug - Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Yan et al. Scientific reports 2018 Aug 8(1) 11646 - Peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomic technology.
Wojcik Monica H et al. Journal of perinatology : official journal of the California Perinatal Association 2018 Aug
Cancer
- Broad-Based Molecular Testing for Lung Cancer: Precisely the Time for Precision.
Bunn Paul A et al. JAMA 2018 Aug 320(5) 445-446 - Triple-Negative Breast Cancer Risk Genes Identified by Multigene Hereditary Cancer Panel Testing
H Shimelis et al, JNCI, August 2018 - Accuracy of Risk Prediction Models for Breast Cancer and BRCA1/BRCA2 Mutation Carrier Probabilities in Israel.
Kenan Efrat Schwarz et al. Anticancer research 2018 Aug 38(8) 4557-4563 - Association of Broad-Based Genomic Sequencing With Survival Among Patients With Advanced Non-Small Cell Lung Cancer in the Community Oncology Setting.
Presley Carolyn J et al. JAMA 2018 Aug 320(5) 469-477 - Identification and characterization of TP53 gene Allele Dropout in Li-Fraumeni syndrome and Oral cancer cohorts.
Haque Mohammed Moquitul et al. Scientific reports 2018 Aug 8(1) 11705 - Male Breast Cancer in the Age of Genetic Testing: An Opportunity for Early Detection, Tailored Therapy, and Surveillance.
Gao Yiming et al. Radiographics : a review publication of the Radiological Society of North America, Inc 2018 Aug 180013 - Impact of Genomic Assay Testing and Clinical Factors on Chemotherapy Use After Implementation of Standardized Testing Criteria.
Natsuhara Kelsey H et al. The oncologist 2018 Aug - Uncertainty in consultations about genetic testing for cancer: an explorative observational study.
Medendorp Niki M et al. Patient education and counseling 2018 Aug - Tumor Molecular Testing Guides Anti-PD-1 Therapy and Provides Evidence for Pathogenicity of Mismatch Repair Variants.
Patel Shyam A et al. The oncologist 2018 Aug - MicroRNA in diagnosis and therapy monitoring of early-stage triple-negative breast cancer.
Kahraman Mustafa et al. Scientific reports 2018 Aug 8(1) 11584 - CLINICAL UTILITY OF PROSPECTIVE MOLECULAR CHARACTERIZATION IN ADVANCED ENDOMETRIAL CANCER.
Soumerai Tara E et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 Aug - Missed opportunities: Genetic counseling and testing among an ethnically diverse cohort of women with endometrial cancer.
Lee Jessica et al. Gynecologic oncology 2018 Aug - Management guidelines for paediatric patients receiving chimeric antigen receptor T cell therapy.
Mahadeo Kris M et al. Nature reviews. Clinical oncology 2018 Aug - Researchers discover gene mutations linked with aggressive breast cancer
A Scher, NBC News, August 6, 2018 - Plan to replicate 50 high-impact cancer papers shrinks to just 18
J Kaiser, Science, July 31, 2018 - BRCA mutation in breast cancer patients: Prognostic impact and implications on clinical management.
Loi Mauro et al. The breast journal 2018 Jul - Integrated genomic analysis for prediction of survival for patients with liver cancer using The Cancer Genome Atlas.
Song Yan-Zhou et al. World journal of gastroenterology 2018 Jul 24(28) 3145-3154 - Advances in molecular, genetic and immune signatures of gastric cancer: Are we ready to apply them in our patients' decision making?
Gkolfinopoulos Stavros et al. World journal of gastrointestinal oncology 2018 Jul 10(7) 172-183 - Knowledge of Genetic Counseling Among Patients With Breast Cancer and Their Relatives at a Nigerian Teaching Hospital.
Adejumo Prisca et al. Journal of global oncology 2018 Jul (4) 1-8 - Genomic biomarkers in prostate cancer.
Kornberg Zachary et al. Translational andrology and urology 2018 Jun 7(3) 459-471 - Liquid biopsy approach in the management of prostate cancer.
Riaz Irbaz Bin et al. Translational research : the journal of laboratory and clinical medicine 2018 May - Breast cancer and men: Gene mutations that contribute to risk can also signal prostate, pancreatic cancers
M Erickson, Star News Online, August 6, 2018 - Identification of nine new susceptibility loci for endometrial cancer
TA O'Mara et al, Nature COmm, AUgust 9, 2018 - Host genetic profiling to increase drug safety in colorectal cancer from discovery to implementation.
Cecchin Erika et al. Drug resistance updates : reviews and commentaries in antimicrobial and anticancer chemotherapy 2018 Jul 3918-40 - Genetic molecular subtypes in optimizing personalized adjuvant therapy in metastatic colorectal cancer.
Wlodarczyk Marcin et al. Current drug targets 2018 Aug - Prospective Study of Germline Genetic Testing in Incident Cases of Pancreatic Adenocarcinoma.
Brand Randall et al. Cancer 2018 Aug - THYROSEQ ® V2.0 MOLECULAR TESTING: A COST-EFFECTIVE APPROACH FOR THE EVALUATION OF INDETERMINATE THYROID NODULES.
Rivas Ana Marcella et al. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2018 Aug - A Phase II Clinical Trial of Molecular Profiled Neoadjuvant Therapy for Localized Pancreatic Ductal Adenocarcinoma.
Tsai Susan et al. Annals of surgery 2018 Aug
Chronic Disease
- How the evidence stacks up for preventing Alzheimer’s disease
E Sohn, Nature Outlook, July 2018 - An Appalachian odyssey: Hunting for ALS genes along a sprawling family tree
E Boodman, Stat News, August 5, 2018 - Genetics, Genomics, and Precision Medicine in End-Stage Kidney Disease.
Kopp Jeffrey B et al. Seminars in nephrology 2018 Jul 38(4) 317-324 - Personalized Management of Bone and Mineral Disorders and Precision Medicine in End-Stage Kidney Disease.
Jovanovich Anna et al. Seminars in nephrology 2018 Jul 38(4) 397-409 - Precision Medicine and Personalized Management of Lipoprotein and Lipid Disorders in Chronic and End-Stage Kidney Disease.
Streja Elani et al. Seminars in nephrology 2018 Jul 38(4) 369-382 - Precision Medicine for Nutritional Management in End-Stage Kidney Disease and Transition to Dialysis.
Wang Angela Yee-Moon et al. Seminars in nephrology 2018 Jul 38(4) 383-396
Ethical, Legal and Social Issues (ELSI)
- Concerns Mount over Data Privacy Guidelines Set by Genetic-Testing Companies,
by Kristen V. Brown, Insurance Journal, August 3, 2018 - Machine learning and genomics: precision medicine versus patient privacy.
Azencott C-A et al. Philosophical transactions. Series A, Mathematical, physical, and engineering sciences 2018 Sep 376(2128) - Genetic research and consent: On the crossroads of human and data research.
Pormeister Kärt et al. Bioethics 2018 Aug - Behind at-home DNA testing companies sharing genetic data with third parties
CBS This Morning, August 2, 2018 - United States: law and policy concerning transfer of genomic data to third countries.
Majumder Mary Anderlik et al. Human genetics 2018 Aug - Registered access: authorizing data access.
Dyke Stephanie O M et al. European journal of human genetics : EJHG 2018 Aug - Genetic Tests Can Hurt Your Chances Of Getting Some Types Of Insurance
M Andrews, NPR, August 7, 2018 - Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: a systematic review.
Zhong Adrina et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Aug - United Kingdom: transfers of genomic data to third countries.
Taylor M J et al. Human genetics 2018 Aug
General Practice
- Is Getting Your Genome Screened at a Doctor's Appointment a Good Idea?
R Letzter, Live Science, July 30, 2018 - Keep calm and edit on.
et al. Nature biotechnology 2018 Aug 36(8) 667 - Keep off-target effects in focus.
et al. Nature medicine 2018 Aug - Laying Anchor: Inserting Precision Health into a Public Health Genetics Policy Course.
Modell Stephen M et al. Healthcare (Basel, Switzerland) 2018 Aug 6(3) - Response: how PGS/PGT-a laboratories succeeded in losing all credibility.
Munné Santiago et al. Reproductive biomedicine online 2018 Aug 37(2) 247-249 - A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health.
Khoury Muin J et al. PLoS medicine 2018 Aug 15(8) e1002631 - Clinical exome sequencing in France and Quebec: what are the challenges? What does the future hold?
Bertier Gabrielle et al. Life sciences, society and policy 2018 Aug 14(1) 17 - Understanding Disparities in Access to Genomic Medicine: A Workshop
NASEM workshop from the roundtable on genomics and precision health: Workshop slides and videos, August 2018 - Data Enclaves for Sharing Information Derived From Clinical and Administrative Data.
Platt Richard et al. JAMA 2018 Aug - A Road Map for Evaluation and Appropriate Implementation of Genome Sequencing to Improve Population Health
MJ Khoury, CDC Blog, August 2, 2018 - Genome-wide association study meta-analysis of the Alcohol Use Disorder Identification Test (AUDIT) in two population-based cohorts (N=141,932)
S Sanchez-Roige et al, BIORxIV, August 2, 2018 - Review of applications of high-throughput sequencing in personalized medicine: barriers and facilitators of future progress in research and clinical application.
Lightbody Gaye et al. Briefings in bioinformatics 2018 Jul - The Path to Routine Genomic Screening in Health Care.
Murray Michael F et al. Annals of internal medicine 2018 Jul - Circulating Cell Free DNA: Applications in the Clinical and Toxicology Setting
NIEHS, Workshop, September 24-25, 2018 - Examining the Cascade of Participant Attrition in a Genomic Medicine Research Study: Barriers and Facilitators to Achieving Diversity.
Moore Elizabeth G et al. Public health genomics 2018 Aug 20(6) 332-342
Heart, Lung, Blood and Sleep Diseases
- Pulmonary Hypertension Fact Sheet
CDC Information, 2018 - Impact of Self-Reported Family History of Premature Cardiovascular Disease on the Outcomes of Patients Hospitalized for Acute Coronary Syndrome (from the Acute Coronary Syndrome Israel Survey [ACSIS] 2000 to 2013).
Levi Amos et al. The American journal of cardiology 2018 Jun - Glucose-6-Phosphate Dehydrogenase Deficiency is Associated with Cardiovascular Disease in U.S. Military Centers.
Thomas John E et al. Texas Heart Institute journal 2018 Jun 45(3) 144-150 - Current approaches to diagnostic testing in von Willebrand Disease.
Rao Emily Southard et al. Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis 2018 Jul - Outcomes of Cardiac Screening in Adolescent Soccer Players.
Malhotra Aneil et al. The New England journal of medicine 2018 Aug 379(6) 524-534 - Precision medicine in COPD: where are we and where do we need to go?
Sidhaye Venkataramana K et al. European respiratory review : an official journal of the European Respiratory Society 2018 Sep 27(149) - Outcomes of Cardiac Screening in Adolescent Soccer Players.
Malhotra Aneil et al. The New England journal of medicine 2018 Aug 379(6) 524-534 - Whole-gene duplication of PCSK9 as a novel genetic mechanism for severe familial hypercholesterolemia
MA Iacocca et al, CJC, August 2018 - Screening for Atrial Fibrillation Comes With Many Snags.
Mandrola John et al. JAMA internal medicine 2018 Aug - Screening for Atrial Fibrillation With Electrocardiography: US Preventive Services Task Force Recommendation Statement.
et al. JAMA 2018 Aug 320(5) 478-484 - Screening for Atrial Fibrillation With Electrocardiography: Evidence Report and Systematic Review for the US Preventive Services Task Force.
Jonas Daniel E et al. JAMA 2018 Aug 320(5) 485-498 - Recent advances in pulmonary arterial hypertension.
Wilkins Martin R et al. F1000Research 2018 7 - Genetics in pulmonary arterial hypertension in a large homogeneous Japanese population.
Gamou S et al. Clinical genetics 2018 Jul 94(1) 70-80 - Telomere Length as Cardiovascular Aging Biomarker
T De Meyer et al, JACC Review Topic of the Week, August 7, 2018 - Age at puberty and risk of asthma: A Mendelian randomisation study.
Minelli Cosetta et al. PLoS medicine 2018 Aug 15(8) e1002634 - Familial Hypercholesterolemia: Shining Light on a Serious Genetic Condition
K Wilemon, US News, August 7, 2018 - Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.
Renard Marjolijn et al. Journal of the American College of Cardiology 2018 Aug 72(6) 605-615 - Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel.
Sturm Amy C et al. Journal of the American College of Cardiology 2018 Aug 72(6) 662-680
Pharmacogenomics
- Combinatorial pharmacogenomics and improved patient outcomes in depression: Treatment by primary care physicians or psychiatrists.
Tanner Julie-Anne et al. Journal of psychiatric research 2018 Jul 104157-162 - HLA-B*5801 Testing to Prevent Allopurinol Hypersensitivity Syndrome: A Teachable Moment.
Quach Cuong et al. JAMA internal medicine 2018 Aug - [An evaluation of the clinical usefulness of amifostine (YM-08310), radioprotective agent. A double-blind placebo-controlled study. 2. Abdominal and pelvic tumors].
Niibe H et al. Nihon Gan Chiryo Gakkai shi 1985 Jun 20(5) 994-1001 - Preface to Special Issue on 'Cytochrome P450 Variation in Pharmacogenomics'.
Rettie Allan E et al. Journal of personalized medicine 2018 Jul 8(3) - Host genetic profiling to increase drug safety in colorectal cancer from discovery to implementation.
Cecchin Erika et al. Drug resistance updates : reviews and commentaries in antimicrobial and anticancer chemotherapy 2018 Jul 3918-40 - Biomarkers of drug-induced liver injury: progress and utility in research, medicine, and regulation.
McGill Mitchell R et al. Expert review of molecular diagnostics 2018 Aug
Reproductive Health
- Did CRISPR really fix a genetic mutation in these human embryos?
E Callaway, Nature, August 8, 2018 - Clinical experience with sex chromosomes aneuploidies detected by non-invasive prenatal testing (NIPT): accuracy and patient decision making.
Ramdaney Aarti et al. Prenatal diagnosis 2018 Aug - Expanded carrier screening: a current survey of physician utilization and attitudes.
Briggs Allison et al. Journal of assisted reproduction and genetics 2018 Aug - Measuring the impact of genetic knowledge on intentions and attitudes of the community towards expanded preconception carrier screening.
Ong Royston et al. Journal of medical genetics 2018 Aug - Pregnancy and child developmental outcomes after preimplantation genetic screening: a meta-analytic and systematic review.
Natsuaki Misaki N et al. World journal of pediatrics : WJP 2018 Jul - The cost of a euploid embryo identified from preimplantation genetic testing for aneuploidy (PGT-A): a counseling tool.
Goldman Randi H et al. Journal of assisted reproduction and genetics 2018 Jul - Noninvasive Prenatal Genetic Screening Using Cell-free DNA.
Allyse Megan A et al. JAMA 2018 Jul - Preimplantation genetic testing for aneuploidy by microarray analysis of polar bodies in advanced maternal age: a randomized clinical trial.
Verpoest Willem et al. Human reproduction (Oxford, England) 2018 Aug - Noninvasive prenatal testing for congenital heart disease - cell-free nucleic acid and protein biomarkers in maternal blood.
Biró Orsolya et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2018 Aug 1-11 - Pregnancy outcome of autosomal aneuploidies other than common trisomies detected by noninvasive prenatal testing in routine clinical practice.
Wan Junhui et al. Prenatal diagnosis 2018 Aug - Pre-implantation genetic testing: decisional factors to accept or decline among in vitro fertilization patients.
Lamb Brandy et al. Journal of assisted reproduction and genetics 2018 Aug
Funding
- Genomic Innovator Award (R35 Clinical Trial Optional),
NIH Funding, July 31, 2018 - Traceback Testing: Increasing Identification and Genetic Counseling of Mutation Carriers through Family-based Outreach (U01 Clinical Trial Optional
HIH funding announcement, August 2018
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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