Publication Date: Jul 5, 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
- Impacts of Variants of Uncertain Significance on Parental Perceptions of Children After Prenatal Chromosome Microarray Testing.
Desai Preeya et al. Prenatal diagnosis 2018 Jun - Canadian Physician Survey on the Medical Management of Hereditary Angioedema.
Fu Lisa et al. Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology 2018 Jun - Clinical Application of Chromosome Microarray Analysis in Han Chinese Children with Neurodevelopmental Disorders.
Xu Mingyu et al. Neuroscience bulletin 2018 Jun - Whole-exome sequencing in intellectual disability; cost before and after a diagnosis.
Vrijenhoek Terry et al. European journal of human genetics : EJHG 2018 Jun - Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
Szabó Tamás et al. Pediatric nephrology (Berlin, Germany) 2018 Jun
Cancer
- Liquid biopsy: still early days for early detection
G Watts, Lancet, June 30, 2018 - The rise of a novel classification system for endometrial carcinoma; integration of molecular subclasses.
McAlpine Jessica et al. The Journal of pathology 2018 Apr 244(5) 538-549 - Is Age Trumping Genetic Profiling in Clinical Practice? Relationship of Chemotherapy Recommendation and Oncotype DX Recurrence Score in Patients Aged < 50 Years versus ≥ 50 Years, and Trends Over Time.
Williams Austin D et al. Annals of surgical oncology 2018 Jun - Methylation of the hsa-miR-124, SOX1, TERT, and LMX1A genes as biomarkers for precursor lesions in cervical cancer.
Rogeri Caroline Domingues et al. Gynecologic oncology 2018 Jun - Utilization of Genetic Testing for RET Mutations in Patients with Medullary Thyroid Carcinoma: a Single-Center Experience.
Parkhurst Emily et al. Journal of genetic counseling 2018 Jun - Association Between the Oligomeric Status of p53 and Clinical Outcomes in Li-Fraumeni Syndrome.
Fischer Nicholas W et al. Journal of the National Cancer Institute 2018 Jun - Clinicopathologic Characterization of Breast Carcinomas in Patients with Non-BRCA Germline Mutations: Results from a Single Institution's High Risk Population.
Meiss Alice E et al. Human pathology 2018 Jun - Cancer Susceptibility Genetic Testing in a High-Risk Cohort of Urban Ashkenazi Jewish Individuals.
Nielsen Sarah M et al. Journal of genetic counseling 2018 Jun - Online self-test added to CRC screening can increase effectiveness of familial cancer risk assessment without increasing distress.
van Erkelens Arjen et al. Colorectal disease : the official journal of the Association of Coloproctology of Great Britain and Ireland 2018 Jun - Validation of a targeted next-generation sequencing approach to detect mismatch repair deficiency in colorectal adenocarcinoma.
Papke David J et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2018 Jun - Assessing colorectal cancer mismatch repair status in the modern era: a survey of current practices and re-evaluation of the role of microsatellite instability testing.
Hissong Erika et al. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2018 Jun - Establishment of the Alabama Hereditary Cancer Cohort - strategies for the inclusion of underrepresented populations in cancer genetics research.
Bishop Madison R et al. Molecular genetics & genomic medicine 2018 Jul - Is genome-guided cancer treatment hyped?
Kaiser Jocelyn et al. Science (New York, N.Y.) 2018 Apr 360(6387) 365 - Surveillance Screening in Li-Fraumeni Syndrome: Raising Awareness of False Positives.
Kumar Prerna et al. Cureus 2018 Apr 10(4) e2527 - Determination of CEBPA mutations by next generation sequencing in pediatric acute leukemia.
Akin D F et al. Bratislavske lekarske listy 2018 119(6) 366-372 - Consideration of Population-Based BRCA Testing as a Strategy to Reduce Disparities in Genetic Counseling Referrals: The Importance of Stating (and Proving) the Obvious.
Newman Lisa A et al. JAMA surgery 2018 Jul - Association of Attending Surgeon With Variation in the Receipt of Genetic Testing After Diagnosis of Breast Cancer.
Katz Steven J et al. JAMA surgery 2018 Jul - Evolving Roles of Histologic Evaluation and Molecular/Genomic Profiling in the Management of Endometrial Cancer.
Murali Rajmohan et al. Journal of the National Comprehensive Cancer Network : JNCCN 2018 Feb 16(2) 201-209 - Early stage NSCLC - challenges to implementing ctDNA-based screening and MRD detection.
Abbosh Christopher et al. Nature reviews. Clinical oncology 2018 Jul - Ohio State is detecting cancer-causing genes with the help of a new test.
Ohio State University, June 2018 - Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer.
Yurgelun Matthew B et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul - The development of a template for psychological assessment of women considering risk-reducing or contralateral prophylactic mastectomy: A national Delphi consensus study.
Braude Lucy et al. Psycho-oncology 2018 Jul - Cost-effectiveness and Benefit-to-Harm Ratio of Risk-Stratified Screening for Breast Cancer A Life-Table Model
N Pashayan et al, JAMA Oncology, Juy 5, 2018 - Implementation Challenges for Risk-Stratified Screening in the Era of Precision Medicine
MC Roberts, JAMA Oncology, July 5, 2018 - Causal inference in cancer epidemiology: what is the role of Mendelian randomization?
Yarmolinsky James et al. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2018 Jun - Uncovering Hereditary Tumor Syndromes: Emerging Role of Surgical Pathology.
Agaimy Abbas et al. Seminars in diagnostic pathology 2018 May 35(3) 154-160 - Bone loss in women with BRCA1 and BRCA2 mutations.
Powell C Bethan et al. Gynecologic oncology 2018 148(3) 535-539 - Molecularly-driven precision medicine for advanced bladder cancer.
Krabbe Laura-Maria et al. World journal of urology 2018 Jun - Clinical and Biological Implications of Mutational Spectrum in Acute Myeloid Leukemia of FAB Subtypes M0 and M1.
Cheng Zhiheng et al. Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2018 Jun 47(5) 1853-1861 - Development of Breast Cancer Choices: a decision support tool for young women with breast cancer deciding whether to have genetic testing for BRCA1/2 mutations.
Grimmett Chloe et al. Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer 2018 Jun - Development of an isotoxic decision support system integrating genetic markers of toxicity for the implantation of a rectum spacer.
van Wijk Yvonka et al. Acta oncologica (Stockholm, Sweden) 2018 Jun 1-7 - Mutational screening of newly diagnosed multiple myeloma patients by deep targeted sequencing.
Ruiz-Heredia Yanira et al. Haematologica 2018 Jun - Molecular Profiling of Pancreatic Cancer Patients: Initial Results from the Know Your Tumor Initiative.
Pishvaian Michael J et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2018 Jun - Management of KRAS-Mutant Non-Small Cell Lung Cancer in the Era of Precision Medicine.
Aredo Jacqueline V et al. Current treatment options in oncology 2018 Jun 19(8) 43 - Pancreatic cancer as a sentinel for hereditary cancer predisposition.
Young Erin L et al. BMC cancer 2018 Jun 18(1) 697 - A randomized controlled trial of a Supportive Expressive Group intervention for Women with a Family History of breast Cancer.
Esplen Mary Jane et al. Psycho-oncology 2018 Jun - Multi-center evaluation of the Idylla™ NRAS-BRAF Mutation Test in metastatic colorectal cancer.
Prieto-Potin Iván et al. The Journal of molecular diagnostics : JMD 2018 Jun - Next‑generation sequencing‑based detection of EGFR, KRAS, BRAF, NRAS, PIK3CA, Her‑2 and TP53 mutations in patients with non‑small cell lung cancer.
Jing Changwen et al. Molecular medicine reports 2018 Jun
Chronic Disease
- New insights into the epigenetics of osteoporosis.
Letarouilly Jean-Guillaume et al. Genomics 2018 May - Global epidemiology of hyperthyroidism and hypothyroidism.
Taylor Peter N et al. Nature reviews. Endocrinology 2018 May 14(5) 301-316 - The Carbohydrate-Insulin Model of Obesity Is Difficult to Reconcile With Current Evidence.
Hall Kevin D et al. JAMA internal medicine 2018 Jul - Hemochromatosis: pathophysiology, evaluation and management of hepatic iron overload with a focus on MRI.
Golfeyz Shmuel et al. Expert review of gastroenterology & hepatology 2018 Jul - People who have a family history of thyroid disease are more likely to have hyperthyroidism.
NIDDK, 2018 - Genetic effects on bone health.
Lovšin Nika et al. Current opinion in clinical nutrition and metabolic care 2018 Jul 21(4) 233-239 - Familial Risks of Glaucoma in the Population of Sweden.
Li Xinjun et al. Journal of glaucoma 2018 Jun - Willingness to Participate in a National Precision Medicine Cohort: Attitudes of Chronic Kidney Disease Patients at a Cleveland Public Hospital.
Cooke Bailey Jessica N et al. Journal of personalized medicine 2018 Jun 8(3)
Ethical, Legal and Social Issues (ELSI)
- Benefits and Harms of the Centers for Medicare & Medicaid Services Ruling on Next-Generation Sequencing.
Luh Frank et al. JAMA oncology 2018 Jun - Racism Plays into Concerns About Genomic Info
J Frieden, Medpage Today, June 28, 2018 - Banning Abortion in Cases of Down Syndrome: Important Lessons for Advances in Genetic Diagnosis.
Reingold Rebecca B et al. JAMA 2018 Jun 319(23) 2375-2376 - Ethics in genetic counselling.
Clarke Angus J et al. Journal of community genetics 2018 Jun - Genetics and ethics.
Ormond Kelly E et al. Journal of community genetics 2018 Jun - Direct-to-Consumer Genetic Testing: The Implications of the US FDA's First Marketing Authorization for BRCA Mutation Testing.
Gill Jennifer et al. JAMA 2018 Jun 319(23) 2377-2378
General Practice
- Data From 1 Million
Frontline Genomics, June 28, 2018 - Training Methods for Delivering Difficult News in Genetic Counseling and Genetics Residency Training Programs.
Andoni Laila et al. Journal of genetic counseling 2018 Jun - Characterization of 108 Genomic DNA Reference Materials for 11 Human Leukocyte Antigen (HLA) Loci: A GeT-RM Collaborative Project.
Bettinotti Maria P et al. The Journal of molecular diagnostics : JMD 2018 Jun - Moving From Hope to Hard Work in Data Sharing.
Gibson C Michael et al. JAMA cardiology 2018 Jul - Celebrating Our Nation’s Birth and What It Means for All of Us
F Collins, NIH Director's Blog, July 3, 2018 - The Carbohydrate-Insulin Model of Obesity: Beyond "Calories In, Calories Out".
Ludwig David S et al. JAMA internal medicine 2018 Jul - [Rational use of genetic tests in internal medicine : Possibilities and limitations of next generation sequencing diagnostics].
Elbracht M et al. Der Internist 2018 Jun - Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders.
Bylstra Yasmin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul - Improving genomics-based predictions for precision medicine through active elicitation of expert knowledge.
Sundin Iiris et al. Bioinformatics (Oxford, England) 2018 Jul 34(13) i395-i403 - Association of Coffee Drinking With Mortality by Genetic Variation in Caffeine Metabolism: Findings From the UK Biobank.
Loftfield Erikka et al. JAMA internal medicine 2018 Jul - Routine DNA tests will put NHS at the 'forefront of medicine'
I Sample, The Guardian, July 3, 2018 - Finding Means to Fulfill the Societal and Academic Imperative for Open Data Access and Sharing.
Peterson Eric D et al. JAMA cardiology 2018 Jul - What is epigenetics?
Jackson Lab video, June 29, 2018 - Genomics, data, and AI - a perfect birthday gift?
S Raza, PHG Foundation, June 29, 2018 - Integration of the human exposome with the human genome to advance medicine.
R Barouki et al. Biochimie 2018 Jun - The Online Gene Test Finds a Dangerous Mutation. It May Well Be Wrong,
By Gina Kolata, The New York Times, July 2, 2018 - Addressing the accuracy of direct-to-consumer genetic testing.
Wu Shirley et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jun - Risk biomarkers enable precision in public health.
Ollier William et al. Personalized medicine 2018 Jun - Assessing the accuracy of variant detection in cost-effective gene panel testing by next-generation sequencing.
Fujiki Ryoji et al. The Journal of molecular diagnostics : JMD 2018 Jun - 4 ways physicians can help advance precision medicine research
S Berg, AMA, June 27, 2018 - Genetic counseling in an indigenous Filipino community with a high prevalence of A2ML1-related otitis media.
la Paz Eva Maria Cutiongco-de et al. Journal of community genetics 2018 Jun - NIH to host workshop on using artificial intelligence and machine learning to advance biomedical research
NIH News Release, July 2018
Heart, Lung, Blood and Sleep Diseases
- The complex molecular genetics of familial hypercholesterolaemia
AJ Berberich et al, Nature Rev Cardio, July 2018 - Specifying sickle cell disease interventions: a study protocol of the Sickle Cell Disease Implementation Consortium (SCDIC).
Baumann Ana A et al. BMC health services research 2018 Jun 18(1) 500 - Genetic screening for Bartter syndrome and Gitelman syndrome pathogenic genes among individuals with hypertension and hypokalemia.
Bao Minghui et al. Clinical and experimental hypertension (New York, N.Y. : 1993) 2018 Jun 1-8 - Evaluation of an educational intervention based on health belief model on beta thalassemia carrier and final suspects couples.
Saeedi Kia Nourdin et al. Journal of education and health promotion 2018 777 - Long QT Syndrome - with Dr. Anil Gehi
UNC Department of Medicine, June 2018 - Parents' views of genetic testing and treatment of familial hypercholesterolemia in children: a qualitative study.
Keenan Karen Forrest et al. Journal of community genetics 2018 Jun - Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.
Minoche Andre E et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul - Management of Ventricular Arrhythmias and Sudden Cardiac Death Risk Associated With Cardiac Channelopathies.
Al-Khatib Sana M et al. JAMA cardiology 2018 Jun - Invasive prenatal diagnosis of ?-thalassemia to control Hb Bart's hydrops fetalis syndrome: 15 years of experience.
Lai Ketong et al. Archives of gynecology and obstetrics 2018 Jun - Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome.
Hosseini S Mohsen et al. Circulation 2018 Jun - The Pharmacogenomics of Asthma beyond its Endotypes.
Meng Shuhui et al. Current drug metabolism 2018 Jun - MANAGEMENT OF PATIENTS WITH SICKLE CELL DISEASE IN ORAL SURGERY: Literature Review and Update.
Prevost Raphaelle et al. Journal of stomatology, oral and maxillofacial surgery 2018 Jun - Universal screening of children for familial hypercholesterolaemia: Value for money?
Ademi Zanfina et al. Atherosclerosis 2018 Jun
Newborn Screening
- Newborn screening urged for fatal neurological disorder.
Wadman Meredith et al. Science (New York, N.Y.) 2018 Jun 360(6396) 1385 - Evaluating parents' decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a randomized controlled trial protocol.
Milko Laura V et al. Trials 2018 Jun 19(1) 344 - Data Sharing-The Time Has (Not Yet?) Come.
Yancy Clyde W et al. JAMA cardiology 2018 Jul - Newborn screening for congenital adrenal hyperplasia: beyond 17-hydroxyprogesterone concentrations.
Witchel Selma Feldman et al. Jornal de pediatria 2018 Jun - Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.
Shibata Naoaki et al. Molecular genetics and metabolism reports 2018 Sep 165-10 - High incidence of maternal vitamin B 12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel.
Gramer Gwendolyn et al. World journal of pediatrics : WJP 2018 Jun - Newborn Screening and Emerging Therapies for X-Linked Adrenoleukodystrophy.
Moser Ann B et al. JAMA neurology 2018 Jun
Reproductive Health
- Genetics of neuromuscular fetal akinesia in the genomics era.
Beecroft Sarah Jane et al. Journal of medical genetics 2018 Jun - Genetic Counselors' Perspectives About Cell-Free DNA: Experiences, Challenges, and Expectations for Obstetricians.
Agatisa Patricia K et al. Journal of genetic counseling 2018 Jun - Fetal exome sequencing: yield and limitations in a single tertiary center.
Daum Hagit et al. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology 2018 Jun - The state of the art of preimplantation genetic testing in ART.
Romanelli Valeria et al. Panminerva medica 2018 Jun - Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome".
Kirk Edwin P et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jul - Inherited Metabolic Disorders: Implications for the Obstetrician-Gynecologist.
Hopkins Maeve K et al. Obstetrical & gynecological survey 2018 Jun 73(6) 361-367 - Next generation sequencing and the impact on prenatal diagnosis.
Mellis Rhiannon et al. Expert review of molecular diagnostics 2018 Jul - Extending non-invasive prenatal testing to non-invasive prenatal diagnosis.
Horton Rachel Helen et al. Archives of disease in childhood. Fetal and neonatal edition 2018 Jun - Pushing the limits of detection: investigation of cell-free DNA for aneuploidy screening in embryos.
Ho Jacqueline R et al. Fertility and sterility 2018 Jun - Non-invasive prenatal aneuploidy testing: Critical diagnostic performance parameters predict sample z-score values.
Blais Jonatan et al. Clinical biochemistry 2018 Jun
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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