Publication Date: Jan 3, 2019
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
- Perspectives on Spinraza (Nusinersen) Treatment Study: Views of Individuals and Parents of Children Diagnosed with Spinal Muscular Atrophy.
Pacione M et al. Journal of neuromuscular diseases 2018 Dec - Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study.
D'Amore Angelica et al. Frontiers in neurology 2018 9981 - Clinical and Genetic Characteristics in Patients With Gitelman Syndrome.
Fujimura Junya et al. Kidney international reports 2019 Jan 4(1) 119-125 - Diagnostic Yield of Intellectual Disability Gene Panels.
Pekeles Heather et al. Pediatric neurology 2018 Nov - "Before Facebook and before social media…we did not know anybody else that had this": parent perspectives on internet and social media use during the pediatric clinical genetic testing process.
Barton Krysta S et al. Journal of community genetics 2018 Dec - Clinical application of chromosomal microarray analysis for the diagnosis of Williams-Beuren syndrome in Chinese Han patients.
Xia Yu et al. Molecular genetics & genomic medicine 2018 Dec - Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy.
Aartsma-Rus Annemieke et al. The Journal of pediatrics 2019 Jan 204305-313.e14 - Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
Baker Samuel W et al. The Journal of molecular diagnostics : JMD 2019 Jan 21(1) 38-48 - Clinical and genetic heterogeneity in Dubowitz syndrome: Implications for diagnosis, management and further research.
Innes A Micheil et al. American journal of medical genetics. Part C, Seminars in medical genetics 2018 Dec 178(4) 387-397 - The Incidence of Cystic Fibrosis in Central Anatolia Region of Turkey in 2015 and 2016
Hangül Melih et al. Balkan medical journal 2018 Dec - Developmental Outcomes in Duarte Galactosemia.
Carlock Grace et al. Pediatrics 2018 Dec - iMEGES: integrated mental-disorder GEnome score by deep neural network for prioritizing the susceptibility genes for mental disorders in personal genomes.
Khan Atlas et al. BMC bioinformatics 2018 Dec 19(Suppl 17) 501 - Parents of a child with epilepsy: Views and expectations on receiving genetic results from Whole Genome Sequencing.
Jaitovich Groisman Iris et al. Epilepsy & behavior : E&B 2018 Dec 90178-190 - Estimating the burden and economic impact of pediatric genetic disease.
Gonzaludo Nina et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Dec
Cancer
- Analysis of the Prevalence of Microsatellite Instability in Prostate Cancer and Response to Immune Checkpoint Blockade.
Abida Wassim et al. JAMA oncology 2018 Dec - Testing strategies to reduce morbidity and mortality from Lynch syndrome.
Keränen Anne et al. Scandinavian journal of gastroenterology 2018 Dec 1-6 - Communication about genetic testing with breast and ovarian cancer patients: a scoping review.
Jacobs Chris et al. European journal of human genetics : EJHG 2018 Dec - Cost Effectiveness of the Oncotype DX Genomic Prostate Score for Guiding Treatment Decisions in Patients With Early Stage Prostate Cancer.
Chang Eric M et al. Urology 2018 Dec - Management of Familial Adenomatous Polyposis in Children and Adolescents: Position Paper from the ESPGHAN Polyposis Working Group.
Hyer Warren et al. Journal of pediatric gastroenterology and nutrition 2018 Dec - 21-gene recurrence score and adjuvant chemotherapy decisions in patients with invasive lobular breast cancer.
Chen Xiang-Hong et al. Biomarkers in medicine 2018 Dec - Chemoprevention in BRCA1 mutation carriers (CIBRAC): protocol for an open allocation crossover feasibility trial assessing mechanisms of chemoprevention with goserelin and anastrozole versus tamoxifen and acceptability of treatment.
Campbell Aideen M et al. BMJ open 2018 Dec 8(12) e023115 - Detecting EGFR mutations and ALK/ROS1 rearrangements in non-small cell lung cancer using malignant pleural effusion samples.
Yao Yi et al. Thoracic cancer 2018 Dec - Clinical Utility Of A Next-Generation Sequencing Panel For Acute Myeloid Leukemia Diagnostics.
Alonso Carmen M et al. The Journal of molecular diagnostics : JMD 2018 Dec - Sistas Taking a Stand for Breast Cancer Research (STAR) Study: A Community-Based Participatory Genetic Research Study to Enhance Participation and Breast Cancer Equity among African American Women in Memphis, TN.
Smith Alana et al. International journal of environmental research and public health 2018 Dec 15(12) - Somatic Tumor Variant Filtration Strategies to Optimize Tumor-Only Molecular Profiling Using Targeted Next-Generation Sequencing Panels.
Sukhai Mahadeo A et al. The Journal of molecular diagnostics : JMD 2018 Dec - Gene-expression Profiling - A Decision Impact Analysis: Decision Dependency on Oncotype DX® as a Function of Oncological Work Experience in 117 Cases.
Eichler Christian et al. Anticancer research 2019 Jan 39(1) 297-303 - BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.
Cline Melissa S et al. PLoS genetics 2018 Dec 14(12) e1007752 - Race, Poverty, and Initial Implementation of Precision Medicine for Lung Cancer.
Kehl Kenneth L et al. Journal of the National Cancer Institute 2018 Dec - [Expression and clinical significance of MMR protein and MLH1 promoter methylation testing in endometrial cancer].
Jin W et al. Zhonghua fu chan ke za zhi 2018 Dec 53(12) 823-830 - Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.
Kim Jung et al. Genome medicine 2018 Dec 10(1) 99 - Exploring the Emotional and Behavioural Reactions to Receiving Personalised Melanoma Genomic Risk Information: A Qualitative Study.
Fenton G L et al. The British journal of dermatology 2018 Dec
Chronic Disease
- Diagnostic Utility of Exome Sequencing for Kidney Disease.
Groopman Emily E et al. The New England journal of medicine 2018 Dec - Pediatric Outcomes in Transplant: PersOnaliSing Immunosuppression To ImproVe Efficacy (POSITIVE Study): The Collaboration and Design of a National Transplant Precision Medicine Program.
Papaz Tanya et al. Transplantation direct 2018 Dec 4(12) e410
Ethical, Legal and Social Issues (ELSI)
- Can the Thought of Teilhard de Chardin Carry Us Past Current Contentious Discussions of Gene Editing Technologies?
Šuleková Mária et al. Cambridge quarterly of healthcare ethics : CQ : the international journal of healthcare ethics committees 2019 Jan 28(1) 62-75 - Let Us Assume That Gene Editing is Safe-The Role of Safety Arguments in the Gene Editing Debate.
Holm Søren et al. Cambridge quarterly of healthcare ethics : CQ : the international journal of healthcare ethics committees 2019 Jan 28(1) 100-111 - Recontacting clinical genetics patients with reclassified results: equity and policy challenges.
Bombard Yvonne et al. European journal of human genetics : EJHG 2018 Dec - A CRISPR focus on attitudes and beliefs toward somatic genome editing from stakeholders within the sickle cell disease community.
Persaud Anitra et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Dec - Who Should Regulate Preimplantation Genetic Diagnosis in the United States?
Bayefsky Michelle et al. AMA journal of ethics 2018 Dec 20(12) E1160-1167 - Enabling precision medicine via standard communication of HTS provenance, analysis, and results.
Alterovitz Gil et al. PLoS biology 2018 Dec 16(12) e3000099 - Ethical issues in human germline gene editing: a perspective from China.
Zhang Di et al. Monash bioethics review 2018 Dec
General Practice
- An Objective Method for Evaluating Next-Generation Sequencing Panels.
Angione Kaitlin et al. Journal of child neurology 2018 Dec 883073818815036 - Ethnic identity and engagement with genome sequencing research.
Turbitt Erin et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Dec - Piloting and implementation of quality assessment and quality control procedures in RBC-Omics: a large multi-center study of red blood cell hemolysis during storage.
Stone Mars et al. Transfusion 2018 Dec - Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing.
Mu Wenbo et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Dec - Serious Games for Improving Genetic Literacy and Genetic Risk Awareness in the General Public: Protocol for a Randomized Controlled Trial.
Oliveri Serena et al. JMIR research protocols 2018 Dec 7(12) e189 - Ultra-Rapid Reporting of GENomic Targets (URGENTseq): Clinical Next-Generation Sequencing Results within 48 Hours of Sample Collection.
Patel Keyur P et al. The Journal of molecular diagnostics : JMD 2019 Jan 21(1) 89-98 - Should Researchers Offer Results to Family Members of Cancer Biobank Participants? A Mixed-Methods Study of Proband and Family Preferences.
Gordon Deborah R et al. AJOB empirical bioethics 2018 Dec 1-22 - Should pretest genetic counselling be required for patients pursuing genomic sequencing? Results from a survey of participants in a large genomic implementation study.
Pacyna Joel E et al. Journal of medical genetics 2018 Dec - Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).
David Karen L et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Dec - Characteristics and evaluation outcomes of genomics curricula for health professional students: a systematic literature review.
Talwar Divya et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Dec - Agents of empathy: How medical interpreters bridge sociocultural gaps in genomic sequencing disclosures with Spanish-speaking families.
Gutierrez Amanda M et al. Patient education and counseling 2018 Dec - Acceptability of Electronic Visits for Return of Research Results in the Mayo Clinic Biobank.
Olson Janet E et al. Mayo Clinic proceedings. Innovations, quality & outcomes 2018 Dec 2(4) 352-358
Heart, Lung, Blood and Sleep Diseases
- Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.
Chan Melody Lok-Yi et al. Molecular genetics & genomic medicine 2018 Dec - Improving the detection of familial hypercholesterolaemia.
Lan Nick S R et al. Pathology 2018 Dec - Predicting Patient Response to the Antiarrhythmic Mexiletine Based on Genetic Variation: Personalized Medicine for Long QT Syndrome.
Zhu Wandi et al. Circulation research 2018 Dec - The global burden of sickle cell disease in children under five years of age: a systematic review and meta-analysis.
Wastnedge Elizabeth et al. Journal of global health 2018 Dec 8(2) 021103 - Fetal congenital heart disease: Associated anomalies, identification of genetic anomalies by single-nucleotide polymorphism array analysis, and postnatal outcome.
Cai Meiying et al. Medicine 2018 Dec 97(50) e13617 - Hypertension genetic risk score is associated with burden of coronary heart disease among patients referred for coronary angiography.
Lukács Krogager Maria et al. PloS one 2018 13(12) e0208645 - Uptake and radiological findings of screening cerebral magnetic resonance scans in patients with hereditary haemorrhagic telangiectasia.
Fatania Gavin et al. Intractable & rare diseases research 2018 Nov 7(4) 236-244 - The role of genetic testing in dyslipidaemia.
Berberich Amanda J et al. Pathology 2018 Dec - Invasive molecular prenatal diagnosis of alpha and beta thalassemia among Hakka pregnant women.
Wu Heming et al. Medicine 2018 Dec 97(52) e13557 - Impact of genetic testing on low-density lipoprotein cholesterol in patients with familial hypercholesterolemia (GenTLe-FH): a randomised waiting list controlled open-label study protocol.
Nomura Akihiro et al. BMJ open 2018 Dec 8(12) e023636
Newborn Screening
- Many newborns in level IV NICUs are eligible for rapid DNA sequencing.
Kapil Sasha et al. American journal of medical genetics. Part A 2018 Dec - Newborn screening for severe combined immunodeficiency and T-cell lymphopenia.
Puck Jennifer M et al. Immunological reviews 2019 Jan 287(1) 241-252
Pharmacogenomics
- Roles of pharmacogenomics in non-anthracycline antineoplastic-induced cardiovascular toxicities: A systematic review and meta-analysis of genotypes effect.
Leong Siew Lian et al. International journal of cardiology 2018 Dec - Impact of pharmacogenetics on statin-induced myopathy in South-Indian subjects.
Ramakumari Nuthalapati et al. Indian heart journal 2018 Dec 70 Suppl 3S120-S125 - Association between genetic polymorphisms of CYP2C9 and VKORC1 and safety and efficacy of warfarin: Results of a 5 years audit.
Biswas Mansij et al. Indian heart journal 2018 Dec 70 Suppl 3S13-S19 - Pharmacogenomic clinical decision support design and multi-site process outcomes analysis in the eMERGE Network.
Herr Timothy M et al. Journal of the American Medical Informatics Association : JAMIA 2018 Dec - Comparison of the efficacy and safety of tocilizumab for colchicine-resistant or colchicine-intolerant familial Mediterranean fever: study protocol for an investigator-initiated, multicenter, randomized, double-blind, placebo-controlled trial.
Koga Tomohiro et al. Trials 2018 Dec 19(1) 715 - Confirmation practice in pharmacogenetic testing; how good is good enough?
Lunenburg Carin A T C et al. Clinica chimica acta; international journal of clinical chemistry 2018 Dec 49077-80
Reproductive Health
- Classification of factors involved in nonreportable results of noninvasive prenatal testing (NIPT) and prediction of success rate of second NIPT.
Suzumori Nobuhiro et al. Prenatal diagnosis 2018 Dec - A Comparison of Pregnancy Outcomes in Patients Undergoing Donor Egg Single Embryo Transfers With and Without Preimplantation Genetic Testing.
Masbou Alexis K et al. Reproductive sciences (Thousand Oaks, Calif.) 2018 Dec 1933719118820474 - Attitudes of the general population towards preconception expanded carrier screening for autosomal recessive disorders including inborn errors of metabolism.
Nijmeijer Stephanie C M et al. Molecular genetics and metabolism 2018 Dec
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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