Publication Date: Aug 3, 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
- High-Throughput Sequencing as First-Tier Diagnostics in Congenital and Early-Onset Disorders
Lemke Johannes R et al. JAMA pediatrics 2017 Jul - Brazilian guidelines for the diagnosis and treatment of cystic fibrosis.
Athanazio Rodrigo Abensur et al. Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia 43(3) 219-245 - Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
AC Lionel et al, Genetics in Medicine, August 3, 2017 - Early-Life Epilepsies and the Emerging Role of Genetic Testing
Berg Anne T et al. JAMA pediatrics 2017 Jul - Hepatorenal Tyrosinemia in Mexico: A Call to Action.
Ibarra-González Isabel et al. Advances in experimental medicine and biology 2017 959147-156 - Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.
Leinøe Eva et al. British journal of haematology 2017 Jul - Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency.
Luk Anderson Dik Wai et al. Frontiers in immunology 2017 8808 - Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions
Tan Tiong Yang et al. JAMA pediatrics 2017 Jul - Remaining Challenges in the Treatment of Tyrosinemia from the Clinician's Viewpoint.
Mitchell Grant A et al. Advances in experimental medicine and biology 2017 959205-213 - Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death.
Oshima Yuki et al. Journal of human genetics 2017 Jul - Assessing the Clinical Utility of SNP Microarray for Prader-Willi Syndrome due to Uniparental Disomy.
Santoro Stephanie L et al. Cytogenetic and genome research 2017 Jul - Treatable Genetic Metabolic Epilepsies.
Assi Lama et al. Current treatment options in neurology 2017 Sep 19(9) 30 - The role of genetic testing in epilepsy diagnosis and management.
Weber Yvonne G et al. Expert review of molecular diagnostics 2017 Aug 17(8) 739-750
Cancer
- NCI-COG Pediatric MATCH trial to test targeted drugs in childhood cancers
NCI, July 2017 - Clinical Management and Tumor Surveillance Recommendations of Inherited Mismatch Repair Deficiency in Childhood.
Tabori Uri et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(11) e32-e37 - Using Genomic Information to Guide Ibrutinib Treatment Decisions in Chronic Lymphocytic Leukaemia: A Cost-Effectiveness Analysis.
Buchanan James et al. PharmacoEconomics 2017 Jul - Personalized and precision medicine in cancer : a theragnostic approach.
Choudhury Partha S et al. Current radiopharmaceuticals 2017 Jul - Genetic biomarker for cancer immunotherapy
S Goswami et al, Science, July 28, 2017 - FDA Approval Summary: Rucaparib for the treatment of patients with deleterious BRCA mutation-associated advanced ovarian cancer.
Balasubramaniam Sanjeeve et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jul - Racial/ethnic differences in multiple-gene sequencing results for hereditary cancer risk.
Caswell-Jin Jennifer L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jul - A comparative study of germline BRCA1 and BRCA2 mutation screening methods in use in 20 European clinical diagnostic laboratories.
Ellison Gillian et al. British journal of cancer 2017 Jul - Breast cancer family history leads to early breast cancer detection and optimal management.
Jannot Anne-Sophie et al. Cancer causes & control : CCC 2017 Jul - Review of the current medical literature and assessment of current utilization patterns regarding mismatch repair protein immunohistochemistry in cutaneous Muir-Torre syndrome-associated neoplasms.
Lee Jason B et al. Journal of cutaneous pathology 2017 Jul - BRCA population screening for predicting breast cancer: for or against?
Lippi Giuseppe et al. Annals of translational medicine 2017 Jul 5(13) 275 - "I've just never gotten around to doing it": Men's approaches to managing BRCA-related cancer risks.
Rauscher Emily A et al. Patient education and counseling 2017 Jul - Impact of tissue-based genomic profiling on clinical decision making in the management of patients with metastatic breast cancer at academic centers.
Santa-Maria Cesar A et al. Breast cancer research and treatment 2017 Jul - A functional BRCA1 coding sequence genetic variant contributes to prognosis of triple-negative breast cancer, especially after radiotherapy.
Shi Meng et al. Breast cancer research and treatment 2017 Jul - The science of precision prevention of cancer.
Vineis Paolo et al. The Lancet. Oncology 2017 Aug 18(8) 997-998 - Mismatch-repair deficiency predicts response of solid tumors to PD-1 blockade.
Le Dung T et al. Science (New York, N.Y.) 2017 Jun - Recognition of Lynch Syndrome Amongst Newly Diagnosed Colorectal Cancers at St. Paul's Hospital.
Pi Steven et al. Canadian journal of gastroenterology & hepatology 2017 20179625638 - Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database
Møller Pål et al. Gut 2017 Jul - Classifying Gastric Cancers by Subtype May Provide Tailored Treatment Options
J Cavallo, ASCP POst, July 27, 2017 - Genetic variants in gastric cancer: Risks and clinical implications.
Gigek Carolina Oliveira et al. Experimental and molecular pathology 2017 Jul
Chronic Disease
- Systems and precision medicine approaches to diabetes heterogeneity: a Big Data perspective.
Capobianco Enrico et al. Clinical and translational medicine 2017 Dec 6(1) 23 - Routine use of clinical exome-based next-generation sequencing for evaluation of patients with thrombotic microangiopathies.
Gaut Joseph P et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2017 Jul - The biobank for the molecular classification of kidney disease: research translation and precision medicine in nephrology.
Muruve Daniel A et al. BMC nephrology 2017 Jul 18(1) 252
Ethics/Policy/Law
- The risk of unjustified BRCA testing after the "Angelina Jolie effect": how can we save (laboratory) medicine from the Internet?
Lippi Giuseppe et al. Clinical chemistry and laboratory medicine 2017 Jul - Genomic Justice and Imagined Communities.
Schwartz-Marin Ernesto et al. The Hastings Center report 2017 Jul 47(4) 30-31
Practice
- Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.
Gall Timothy et al. Frontiers in medicine 2017 462 - Will Healthcare Inequality Cause Genetic Diseases to Disproportionately Impact the Poor?
KV Brown, Gizmodo, July 31, 2017 - Inclusion of diverse populations in genomic research and health services: Genomix workshop report.
Mathew Savio S et al. Journal of community genetics 2017 Jul - Leveraging community-based participatory research capacity to recruit Pacific Islanders into a genetics study.
McElfish Pearl A et al. Journal of community genetics 2017 Jul - Interacting with Genomic Data: Clinician Requirements and Prototype Structure.
Bradford Dana et al. Studies in health technology and informatics 2017 2391-7 - Participants' Understanding of Informed Consent for Biobanking: A Systematic Review.
Eisenhauer Elizabeth R et al. Clinical nursing research 2017 Jul 1054773817722690 - Genetics Education in Nurse Residency Programs: A Natural Fit.
Hamilton Nalo M et al. Journal of continuing education in nursing 2017 Aug 48(8) 379-384 - Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
Parikh Sumit et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jul - The Precision Medicine Nation.
Sabatello Maya et al. The Hastings Center report 2017 Jul 47(4) 19-29 - Building consensus on genomic data sharing
PHG Foundation, August 2, 2017 - Human Genetic Variation May Complicate CRISPR
A Yeager, the Scientist, July 31, 2017
Cardiovascular Diseases
- Kathiresan and Topol on Genomics of Heart Disease
Focusing on Heart Attacks Among the Young, Medscape, August 2, 2017 - Deadly gene mutations removed from human embryos in landmark study
The Guardian, August 2, 2017 - Early health technology assessments in pharmacogenomics: a case example in cardiovascular drugs.
Geenen Joost W et al. Pharmacogenomics 2017 Jul - Xanthomas in Familial Hypercholesterolemia
Poonia Amitabh et al. The New England journal of medicine 2017 Aug 377(5) e7 - Family Screening for FH and the Use of Genetic Testing
The FH Foundation, July 27, 2017
Newborn Screening
- The Québec NTBC Study.
et al. Advances in experimental medicine and biology 2017 959187-195 - Contamination of dried blood spots - an underestimated risk in newborn screening.
Winter Theresa et al. Clinical chemistry and laboratory medicine 2017 Aug - Diagnosing Hepatorenal Tyrosinaemia in Europe: Newborn Mass Screening Versus Selective Screening.
Das Anibh M et al. Advances in experimental medicine and biology 2017 959125-132 - Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.
Merinero B et al. JIMD reports 2017 Jul - Clinical features and genotyping of patients with primary carnitine deficiency identified by newborn screening.
Sun Yun et al. Journal of pediatric endocrinology & metabolism : JPEM 2017 Jul
Pharmacogenomics
- Evidence for Treatment-by-Biomarker interaction for FDA-approved Oncology Drugs with Required Pharmacogenomic Biomarker Testing.
Vivot Alexandre et al. Scientific reports 2017 Jul 7(1) 6882 - Institutional profile of pharmacogenetics within University of Michigan College of Pharmacy.
Hertz Daniel L et al. Pharmacogenomics 2017 Jul - Patient Decisions to Receive Secondary Pharmacogenomic Findings and Development of a Multidisciplinary Practice Model to Integrate Results Into Patient Care.
Hicks J Kevin et al. Clinical and translational science 2017 Jul - Challenges in Ordering and Interpreting Pharmacogenomic Tests in Clinical Practice.
Moyer Ann M et al. The American journal of medicine 2017 Jul
Reproductive Health
- Cost-effectiveness of preimplantation genetic screening for women older than 37 undergoing in vitro fertilization.
Collins Stephen C et al. Journal of assisted reproduction and genetics 2017 Jul - Correction of a pathogenic gene mutation in human embryos
Nature, August 3, 2017 - Breaking: First US gene-edited human embryo received healthy replacement DNA copy
R Lewis, Genetic Literacy Project - CRISPR fixes disease gene in viable human embryos
Genome editing experiment pushes scientific and ethical boundaries, H Ledford, Nature, August 2, 2017
News/ Reviews/Comments
- Genetic data from half a million released for research
Medical research Council, UK, July 28, 2017
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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