Publication Date: Sep 14, 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. View Data Selection Criteria
Human Genomics across the Lifespan
Birth Defects and Child Health
- Major Contribution of Genomic Copy Number Variation in Syndromic Congenital Heart Disease: The Use of MLPA as the First Genetic Test.
Monteiro Rejane A C et al. Molecular syndromology 2017 Aug 8(5) 227-235 - Ethical Challenges in Hematopoietic Cell Transplantation for Sickle Cell Disease: a Review.
Nickel Robert Sheppard et al. Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2017 Sep - Feasibility of Coping Effectiveness Training for Caregivers of Children with Autism Spectrum Disorder: a Genetic Counseling Intervention.
Haakonsen Smith Christy et al. Journal of genetic counseling 2017 Sep - Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
Harris Elizabeth et al. Orphanet journal of rare diseases 2017 Sep 12(1) 151 - Genetic Testing in a Cohort of Complex Esophageal Atresia.
Beauregard-Lacroix Eliane et al. Molecular syndromology 2017 Aug 8(5) 236-243 - Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues.
Aartsma-Rus Annemieke et al. Nucleic acid therapeutics 2017 Aug
Cancer
- Accuracy of screening women at familial risk of breast cancer without a known gene mutation: Individual patient data meta-analysis.
Phi Xuan-Anh et al. European journal of cancer (Oxford, England : 1990) 2017 Sep 8531-38 - Effect of Physician Notification Regarding Nonadherence to Colorectal Cancer Screening on Patient Participation in Fecal Immunochemical Test Cancer Screening: A Randomized Clinical Trial.
Rat Cédric et al. JAMA 2017 Sep 318(9) 816-824 - A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.
Rossi Benedito Mauro et al. BMC cancer 2017 Sep 17(1) 623 - BRCA Genetic Testing and Receipt of Preventive Interventions Among Women Aged 18-64 Years with Employer-Sponsored Health Insurance in Nonmetropolitan and Metropolitan Areas - United States, 2009-2014.
Kolor Katherine et al. Morbidity and mortality weekly report. Surveillance summaries (Washington, D.C. : 2002) 2017 Sep 66(15) 1-11 - Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing.
Mandelker Diana et al. JAMA 2017 Sep 318(9) 825-835 - CADD score has limited clinical validity for the identification of pathogenic variants in noncoding regions in a hereditary cancer panel.
Mather Cheryl A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Dec 18(12) 1269-1275 - Myriad launches hereditary cancer detection tool,
BioSpectrum India, September 7, 2017 - Current Cancer Genetic Testing Guidelines May Miss Actionable Heritable Mutations,
Genome Web, September 5, 2017 - Geographic Gaps in BRCA Testing Rates Have Narrowed,
by Christina Mattina, AJMC, September 10, 2017 - Functional precision cancer medicine-moving beyond pure genomics.
Letai Anthony et al. Nature medicine 2017 Sep 23(9) 1028-1035 - Implementing an Oncology Precision Medicine Clinic in a Large Community Health System
MJ Thompson et al. AJMC, August 2017 - The Potential and Challenges of Expanded Germline Testing in Clinical Oncology.
Van Allen Eliezer M et al. JAMA 2017 Sep 318(9) 801-803 - Are online prediction tools a valid alternative to genomic profiling in the context of systemic treatment of ER-positive breast cancer?
Wazir Umar et al. Cellular & molecular biology letters 2017 2220 - Qualitative Radiogenomics: Association between Oncotype DX Test Recurrence Score and BI-RADS Mammographic and Breast MR Imaging Features.
Woodard Genevieve A et al. Radiology 2017 Sep 162333 - Molecular testing for Lynch syndrome in people with colorectal cancer: systematic reviews and economic evaluation.
Snowsill Tristan et al. Health technology assessment (Winchester, England) 2017 Sep 21(51) 1-238 - APPLICATION OF GENE PROFILING IN SELECTION OF ADJUVANT THERAPY IN BREAST CANCER IN A DEVELOPING COUNTRY.
Baitchu Y et al. South African journal of surgery. Suid-Afrikaanse tydskrif vir chirurgie 2017 Sep 55(3) 71-72 - BRCA Genetic Testing and Receipt of Preventive Interventions Among Women Aged 18-64 Years with Employer-Sponsored Health Insurance in Nonmetropolitan and Metropolitan Areas - United States, 2009-2014
K Kolor, MMWR Surveillance Summaries, Sep 7, 2017 - Chimeric Antigen Receptor (CAR) T-Cell Therapy- Patient Page
JM Pagel et al, JAMA Oncology, Sep 7, 2017 - Cancer: A precision approach to tumour treatment.
Dienstmann Rodrigo et al. Nature 2017 548(7665) 40-41 - OncoKB: A Precision Oncology Knowledge Base.
Chakravarty Debyani et al. JCO precision oncology 2017 Jul 2017 - Validation of the 18-gene classifier as a prognostic biomarker of distant metastasis in breast cancer.
Cheng Skye Hung-Chun et al. PloS one 2017 12(9) e0184372 - SURVEILLANCE COLONOSCOPY FOR LYNCH SYNDROME IN THE NORTHERN CAPE: DOES DIRECT CONTACT IMPROVE COMPLIANCE?
Coccia A C et al. South African journal of surgery. Suid-Afrikaanse tydskrif vir chirurgie 2017 Jun 55(2) 55 - Pancreatic Cancer Screening.
Das Koushik K et al. Current treatment options in gastroenterology 2017 Sep - Clinical application of a cancer genomic profiling assay to guide precision medicine decisions.
Eifert Cheryl et al. Personalized medicine 2017 Jul 14(4) 309-325 - Tragedy, Perseverance, and Chance - The Story of CAR-T Therapy.
Rosenbaum Lisa et al. The New England journal of medicine 2017 Sep - Going With the Flow: The Promise and Challenge of Liquid Biopsies
Friedrich M J et al. JAMA 2017 Sep - New Gene-Therapy Treatments Will Carry Whopping Price Tags
G Kolata, NY Times, Sep 11, 2017 - Targeting Immune Checkpoints in Cancer Therapy.
Topalian Suzanne L et al. JAMA 2017 Sep - Genomic Health Presents Data Demonstrating Importance of Oncotype DX Breast Recurrence Score® Test in Predicting Outcomes Across Patient Populations at ESMO 2017,
PR Newswire, September 11, 2017
Chronic Disease
- Genetic approaches for the study of PTSD: Advances and challenges.
Banerjee Sunayana B et al. Neuroscience letters 2017 May 649139-146 - Heritable pulmonary hypertension: from bench to bedside.
Girerd Barbara et al. European respiratory review : an official journal of the European Respiratory Society 2017 Sep 26(145) - Does genetic testing for ERα gene polymorphisms provide new possibilities of treatment for cognitive function disorders in postmenopausal women?
Gujski Mariusz et al. Archives of medical science : AMS 2017 Aug 13(5) 1224-1232 - From FH to Mental Illness: The Evolving Role of Genetic Counseling
ME Freivogel, NSGC Blog Post, Sep 14, 2017 - Pretreatment biomarkers predicting PTSD psychotherapy outcomes: A systematic review.
Colvonen Peter J et al. Neuroscience and biobehavioral reviews 2017 Apr 75140-156 - Pharmacogenetics and Pharmacotherapy of Military Personnel Suffering from Post-traumatic Stress Disorder.
Naß Janine et al. Current neuropharmacology 2017 15(6) 831-860 - Identification of Delivery Models for the Provision of Predictive Genetic Testing in Europe: Protocol for a Multicentre Qualitative Study and a Systematic Review of the Literature.
Unim Brigid et al. Frontiers in public health 2017 5223 - What is Post-Traumatic Stress Disorder
National Institute for Mental Health - Type 2 diabetes is being misdiagnosed in African Americans, genetic study suggests
Sanger Institute, Sep 12, 2017 - The impact of genetic polymorphisms on liver diseases: entering the era of personalized medicine.
Boccuto Luigi et al. European journal of gastroenterology & hepatology 2017 29(9) 1102-1103 - The genetics and epigenetics of PTSD: overview, recent advances, and future directions.
Sheerin Christina M et al. Current opinion in psychology 2017 Apr 145-11 - Massive genetic study shows how humans are evolving Analysis of 215,000 people's DNA suggests variants that shorten life are being selected against.
B Martin, Nature News, Sep 7, 2017 - A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci.
Chang Diana et al. Nature genetics 2017 Sep - Translating GWAS Findings Into Therapies For Depression And Anxiety Disorders: Drug Repositioning Using Gene-Set Analyses Reveals Enrichment Of Psychiatric Drug Classes
BioRxiV, Sep 8,, 2017 - Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis
E Wheeler et al, PLOS MEdicine, Sep 2017 - Past, present, and future of Parkinson's disease: A special essay on the 200th Anniversary of the Shaking Palsy.
Obeso J A et al. Movement disorders : official journal of the Movement Disorder Society 2017 Sep 32(9) 1264-1310 - Alterations in blood-based miRNA in veterans affected with combat-related PTSD
Science Mag, Sep 7, 2017 - Treatable inherited rare movement disorders.
Jinnah H A et al. Movement disorders : official journal of the Movement Disorder Society 2017 Sep - The genetics and epigenetics of PTSD: overview, recent advances, and future directions.
Sheerin Christina M et al. Current opinion in psychology 2017 Apr 145-11
Ethics/Policy/Law
- "That is why I have trust": unpacking what 'trust' means to participants in international genetic research in Pakistan and Denmark.
Sheikh Zainab et al. Medicine, health care, and philosophy 2017 Sep - Call to Share Genomic Data,
Genome Web, September 7, 2017
Practice
- How often should you keep in touch with your genetic counselor?
R Moore, NSGC Blog, August 2017 - Implementing and Evaluating Genomic Screening Programs in Health Care Systems: A Workshop
National Academy Medicine Rountable on Genomics and Precision Health, November 1. 2017 - Future DNA Sequencing Techniques,
by Catherine Shaffer, M.Sc., News Medical.net, September 11, 2017 - I Am a Genetic Counselor
National Society of Genetic Counselors, Sep 13, 2017 - Genome Editing
NHGRI, August 3, 2017 - Clinical genomic sequencing as a routine technology for case finding and diagnosis in unselected patient populations should not proceed without formal comparative evaluation of health outcomes and system impacts.
Wilson Brenda J et al. Journal of clinical epidemiology 2017 Sep - HbA1c for type 2 diabetes diagnosis in Africans and African Americans: Personalized medicine NOW!
Paterson Andrew D et al. PLoS medicine 2017 Sep 14(9) e1002384 - Relieving the Bottleneck: An Investigation of Barriers to Expansion of Supervision Networks at Genetic Counseling Training Programs.
Berg Jordan et al. Journal of genetic counseling 2017 Sep - Public health expertise needed to bring genomics into practice
H Burton, PHG Foundation, Sep 13, 2017 - Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review
A Bonaldi, et al. Epigenomes, Sep 2017 - The hope that epigenetics could launch a health-care revolution
T Spears, Ottawa Citizwen, Sep 8, 2017 - NIH's massive health study is off to a slow start
J Kaiser, Science Sep 7, 2017
Cardiovascular Diseases
- Use of next-generation sequencing to detect LDLR gene copy number variation in familial hypercholesterolemia.
Iacocca Michael A et al. Journal of lipid research 2017 Sep - Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia
JC Defesches et al, J Clin Lipid Sep 2017
Pharmacogenomics
- Germline Genetic Variants with Implications for Disease Risk and Therapeutic Outcomes.
Pasternak Amy L et al. Physiological genomics 2017 Sep physiolgenomics.00035.2017 - Review of the Reported Measures of Clinical Validity and Clinical Utility as Arguments for the Implementation of Pharmacogenetic Testing: A Case Study of Statin-Induced Muscle Toxicity.
Jansen Marleen E et al. Frontiers in pharmacology 2017 8555 - Role of pharmacogenomics in antiepileptic drug therapy: current status and future perspectives.
Gambardella Antonio et al. Current pharmaceutical design 2017 Sep
Reproductive Health
- Obstetric professionals' perceptions of non-invasive prenatal testing for Down syndrome: clinical usefulness compared with existing tests and ethical implications.
Ngan Olivia Miu Yung et al. BMC pregnancy and childbirth 2017 Sep 17(1) 285 - Validation of Next-Generation Sequencer for 24-Chromosome Aneuploidy Screening in Human Embryos.
Sachdeva Kabir et al. Genetic testing and molecular biomarkers 2017 Sep - Non-Invasive Prenatal Testing for Sex Chromosome Aneuploidy in Routine Clinical Practice.
Kornman Louise et al. Fetal diagnosis and therapy 2017 Sep - Non-invasive prenatal testing (NIPT): Europe's first multicenter post-market clinical follow-up study validating the quality in clinical routine.
Flöck Anne et al. Archives of gynecology and obstetrics 2017 Sep - Group genetic counseling: an alternate service delivery model in a high risk prenatal screening population.
Cloutier Mireille et al. Prenatal diagnosis 2017 Sep - Preimplantation Genetic Diagnosis for Mendelian Conditions.
Dolan Siobhan M et al. JAMA 2017 Sep 318(9) 859-860
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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