Publication Date: May 25, 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
- Genetic Testing among Children in a Complex Care Program.
Oei Krista et al. Children (Basel, Switzerland) 2017 May 4(5) - Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.
Meyer Robert et al. The Journal of pediatrics 2017 May - Parents' Attitudes toward Clinical Genetic Testing for Autism Spectrum Disorder-Data from a Norwegian Sample.
Johannessen Jarle et al. International journal of molecular sciences 2017 May 18(5) - Parental Experiences of Raising a Child With Medium Chain Acyl-CoA Dehydrogenase Deficiency.
Piercy Hilary et al. Global qualitative nursing research 42333393617707080 - Paper-Based Diagnostics: Rethinking Conventional Sickle Cell Screening to Improve Access to High-Quality Health Care in Resource-Limited Settings.
Piety Nathaniel Z et al. IEEE pulse 8(3) 42-46 - 5 Ways to Raise Awareness
Tourette Association of America - Gilles de la Tourette syndrome.
Robertson Mary M et al. Nature reviews. Disease primers 2017 Feb 316097
Cancer
- Epigenomics, Pharmacoepigenomics, and Personalized Medicine in Cervical Cancer.
Kabekkodu Shama Prasada et al. Public health genomics 2017 May - Comparison of lifestyle, hormonal and medical factors in women with sporadic and Lynch syndrome-associated endometrial cancer: A retrospective case-case study.
Aaltonen Mari H et al. Molecular and clinical oncology 2017 May 6(5) 758-764 - Precision Medicine: Genomic Profiles to Individualize Therapy.
Streeter Oscar E et al. Otolaryngologic clinics of North America 2017 May - Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.
Houlleberghs Hellen et al. PLoS genetics 2017 May 13(5) e1006765 - FDA Approves First Drug For Tumor's Biomarker Indication
Genome Web, May 24, 2017 - FDA grants accelerated approval to pembrolizumab for first tissue/site agnostic indication
FDA, May 23, 2017 - Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes.
Paulo Paula et al. The Journal of molecular diagnostics : JMD 2017 May - A multi-gene panel study in hereditary breast and ovarian cancer in Colombia.
Cock-Rada A M et al. Familial cancer 2017 May - Biological and clinical evidence for somatic mutations in BRCA1 and BRCA2 as predictive markers for olaparib response in high-grade serous ovarian cancers in the maintenance setting.
Dougherty Brian A et al. Oncotarget 2017 May - Multigene Testing for Hereditary Cancer: When, Why, and How.
Offit Kenneth et al. Journal of the National Comprehensive Cancer Network : JNCCN 2017 May 15(5S) 741-743 - Breast Cancer Genetic Testing Among African Patients With Breast Cancer: Deoxyribonucleic Acid Extraction From Tumor Tissue and International Multidisciplinary Partnerships.
Amankwaa-Frempong Emmanuel et al. JAMA surgery 2017 May - Multigene Panel Testing Provides a New Perspective on Lynch Syndrome.
Espenschied Carin R et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2017 May JCO2016719260 - Dissecting microsatellite instability in colorectal cancer: one size does not fit all
RM Samstein et al, Genome Medicine, May 24, 2017 - NGS analysis on tumor tissue and cfDNA for genotype-directed therapy in metastatic NSCLC patients. Between hope and hype?
Falk Alexander T et al. Expert review of anticancer therapy 2017 May 1-5 - Assessing the clinical utility of Wnt pathway markers in colorectal cancer.
Veloudis Georgios et al. Journal of B.U.ON. : official journal of the Balkan Union of Oncology 22(2) 431-436 - Long and short noncoding RNAs in lung cancer precision medicine: Opportunities and challenges.
Tian Haihua et al. Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2017 Apr 39(4) 1010428317697578 - Familial risk for lung cancer.
Kanwal Madiha et al. Oncology letters 2017 Feb 13(2) 535-542 - Use of the QIAGEN GeneReader NGS system for detection of KRAS mutations, validated by the QIAGEN Therascreen PCR kit and alternative NGS platform.
Darwanto Agus et al. BMC cancer 2017 May 17(1) 358 - Ability of a Genomic Classifier to Predict Metastasis and Prostate Cancer-specific Mortality after Radiation or Surgery based on Needle Biopsy Specimens.
Nguyen Paul L et al. European urology 2017 May - Clinicopathologic Characteristics of Endometrial Cancer in Lynch Syndrome: A French Multicenter Study.
Rossi Léa et al. International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2017 Jun 27(5) 953-960 - Use of the 4Kscore test to predict the risk of aggressive prostate cancer prior to prostate biopsy: Overall cost savings and improved quality of care to the us healthcare system.
Voigt Jeffrey D et al. Reviews in urology 2017 19(1) 1-10 - Treatment inferred from mutations identified using massive parallel sequencing leads to clinical benefit in some heavily pretreated cancer patients.
Zick Aviad et al. Medicine 2017 May 96(20) e6931 - 'Big data' approaches for novel anti-cancer drug discovery.
Benstead-Hume Graeme et al. Expert opinion on drug discovery 2017 Jun 12(6) 599-609 - Aiming to Prevent Hereditary Cancers, Researchers Focus on Lynch Syndrome
NCI, May 2017
Chronic Diseases
- A Systematic Review of the Huntington Disease-Like 2 Phenotype.
Anderson David G et al. Journal of Huntington's disease 2017 6(1) 37-46 - Huntington's Disease-Update on Treatments.
Wyant Kara J et al. Current neurology and neuroscience reports 2017 Apr 17(4) 33 - Inflammatory Bowel Disease (IBD): What Is It?
- "I don't believe it." Acceptance and skepticism of genetic health information among African-American and White smokers.
Waters Erika A et al. Social science & medicine (1982) 2017 May 184153-160 - Nomenclature of genetic movement disorders: Recommendations of the International Parkinson and Movement Disorder Society task force.
Marras Connie et al. Movement disorders : official journal of the Movement Disorder Society 2017 May 32(5) 724-725 - Palliative Care in Huntington Disease: Personal Reflections and a Review of the Literature.
Tarolli Christopher G et al. Tremor and other hyperkinetic movements (New York, N.Y.) 2017 7454 - Genetics of inflammatory bowel disease: beyond NOD2.
Mirkov Maša Umicevic et al. The lancet. Gastroenterology & hepatology 2017 Mar 2(3) 224-234
Ethics, Policy and Law
- Public-Private Partnerships in Cloud-Computing Services in the Context of Genomic Research.
Granados Moreno Palmira et al. Frontiers in medicine 2017 43 - Huntington's case raises questions about passing gene test results to relatives
C Dyer, BMJ 2017; 357 - Undermining Genetic Privacy? Employee Wellness Programs and the Law
KL Hudson et al, NEJM, May 25, 2017 - Anticipating the Ethical Challenges of Psychiatric Genetic Testing.
Appelbaum Paul S et al. Current psychiatry reports 2017 Jul 19(7) 39 - Sharing Clinical and Genomic Data on Cancer — The Need for Global Solutions
The Clinical Cancer Genome Task Team of the Global Alliance for Genomics and Health, N Engl J Med May 25, 2017 - Sharing data under the 21st Century Cures Act
MA Majumder et al, Genetics in Medicine, May 25, 2017
Genomics in Practice
- Equity and Value in 'Precision Medicine'.
Gray Muir et al. The New bioethics : a multidisciplinary journal of biotechnology and the body 2017 Apr 23(1) 87-94 - New Developments in Human Genome Editing[PDF 285 KB] -
A Guide for Patients and Families Affected by Inherited Diseases and Disabilities - 1 million patient cohort being prepared to fuel precision medicine knowledge base
G Venditto, Healthcare ITNews, May 17, 2017 - Risk and Benefit in Personalised Medicine: An End User View.
Kent Alastair et al. The New bioethics : a multidisciplinary journal of biotechnology and the body 2017 Apr 23(1) 49-54 - From Rosalind Franklin to Barack Obama: Data Sharing Challenges and Solutions in Genomics and Personalised Medicine.
Lawler Mark et al. The New bioethics : a multidisciplinary journal of biotechnology and the body 2017 Apr 23(1) 64-73 - Personalised Medicine Approaches to Screening and Prevention.
Gaitskell Kezia et al. The New bioethics : a multidisciplinary journal of biotechnology and the body 2017 Apr 23(1) 21-29 - The perceived impact of the European registration system for genetic counsellors and nurses.
Paneque Milena et al. European journal of human genetics : EJHG 2017 May - Reporting practices for unsolicited and secondary findings from next generation sequencing technologies: Perspectives of laboratory personnel.
Vears Danya F et al. Human mutation 2017 May - Utilization of Genetic Counseling after Direct-to-Consumer Genetic Testing: Findings from the Impact of Personal Genomics (PGen) Study.
Koeller Diane R et al. Journal of genetic counseling 2017 May - How are Direct-to-Consumer and Medical-Grade Genetic Tests Different?
D Babu, Ambry Genetics, May 18, 2017 - Clinical exome sequencing reports: current informatics practice and future opportunities.
Swaminathan Rajeswari et al. Journal of the American Medical Informatics Association : JAMIA 2017 May - Challenges and strategies for implementing genomic services in diverse settings: experiences from the Implementing GeNomics In pracTicE (IGNITE) network.
Sperber Nina R et al. BMC medical genomics 2017 May 10(1) 35 - The Promise and the Hype of 'Personalised Medicine'.
Maughan Tim et al. The New bioethics : a multidisciplinary journal of biotechnology and the body 2017 Apr 23(1) 13-20 - 5 Things You Need To Know Before Taking an At-Home Genetic Test,
by Parminder Deo and Jacqueline Paulis, M.D., NBC News, May 17, 2017 - What You May Learn by At-Home Genetic Testing - Some consumers bypass the medical system to obtain this personal information. But it has limits.
L Esposito, US News, May 19, 2017
Cardiovascular Diseases
- PCSK9 monoclonal antibodies for the primary and secondary prevention of cardiovascular disease.
Schmidt Amand F et al. The Cochrane database of systematic reviews 2017 Apr 4CD011748 - PCSK9 Inhibition to Reduce Cardiovascular Risk: Tempering Expectations.
Waters David D et al. Circulation research 2017 May 120(10) 1537-1539 - How many familial hypercholesterolemia patients are eligible for PCSK9 inhibition?
Masana Luis et al. Atherosclerosis 2017 May 262107-112 - National Lipid Association Releases Updated Recommendations on the Use of PCSK9 Inhibitors at the 15th Annual Scientific Session
National Lipid Association, May 2017 - Recent advances in genetic testing for familial hypercholesterolemia.
Iacocca Michael A et al. Expert review of molecular diagnostics 2017 May - 2017 Position Paper of the Italian Society for Cardiovascular Prevention (SIPREC) for an Updated Clinical Management of Hypercholesterolemia and Cardiovascular Risk: Executive Document.
Volpe Massimo et al. High blood pressure & cardiovascular prevention : the official journal of the Italian Society of Hypertension 2017 May - NLA Expert Panel on Treatment with PCSK9 Inhibitors: 2017 recommendations[PDF 84.3 KB]
National Lipid Association, May 2017 - Hypertrophic Cardiomyopathy in Childhood: Risk Management Through Family Screening.
Munk Kim et al. The Journal of pediatrics 2017 May - Genotype Positive Long QT Syndrome in Patients With Coexisting Congenital Heart Disease.
Ebrahim Mohammed A et al. The American journal of cardiology 2017 Apr - Genetics of sudden cardiac death - An epidemiologic perspective.
Kääb Stefan et al. International journal of cardiology 2017 Jun 23742-44 - Update on the use of PCSK9 inhibitors in adults: Recommendations from an Expert Panel of the National Lipid Association
CE Orringer et al, J Clin Lipidology, May 2017 - Scientists make strides in hunt for genetic causes of heart disease,
by Tracie White, Scope Blog, May 22, 2017
Reproductive Health
- Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy.
Hui Lisa et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 May - Genetic testing and reproductive choice in neurological disorders.
Lee Omay et al. Practical neurology 2017 May - Cell-Free DNA Analysis of Targeted Genomic Regions in Maternal Plasma for Non-Invasive Prenatal Testing of Trisomy 21, Trisomy 18, Trisomy 13, and Fetal Sex.
Koumbaris George et al. Clinical chemistry 2016 Jun 62(6) 848-55 - Preconception and prenatal genetic counselling.
Ioannides Adonis S et al. Best practice & research. Clinical obstetrics & gynaecology 2017 Apr
Pharmacogenomics
- Pharmacogenomic Testing for Psychotropic Medication Selection: A Systematic Review of the Assurex GeneSight Psychotropic Test.
et al. Ontario health technology assessment series 2017 17(4) 1-39 - Impact of genetic polymorphisms determining leukocyte/neutrophil count on chemotherapy toxicity.
Glisovic S J et al. The pharmacogenomics journal 2017 May
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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