Publication Date: Oct 18, 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
- Diagnostic Accuracy of Phenotype Classification in Duchenne and Becker Muscular Dystrophy Using Medical Record Data1.
Andrews Jennifer G et al. Journal of neuromuscular diseases 2018 Oct - Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.
Kashimada Ayako et al. Brain & development 2018 Oct - Identification of Duchenne/Becker muscular dystrophy mosaic carriers through a combined DNA/RNA analysis.
Zampatti Stefania et al. Prenatal diagnosis 2018 Oct - Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
Splinter Kimberly et al. The New England journal of medicine 2018 Oct - Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Oza Andrea M et al. Human mutation 2018 Nov 39(11) 1593-1613 - Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
Zastrow Diane B et al. Human mutation 2018 Nov 39(11) 1569-1580 - Dravet syndrome in South African infants: Tools for an early diagnosis.
Esterhuizen Alina I et al. Seizure 2018 Sep 6299-105 - Combinatorial Approach for Complex Disorder Prediction: Case Study of Neurodevelopmental Disorders.
Huynh Linh et al. Genetics 2018 Oct - Rare Disease 2019 Information Packet[PDF 1.00 MB]
NIH, October 2018
Cancer
- Risk Scores for Predicting Advanced Colorectal Neoplasia in the Average-risk Population: A Systematic Review and Meta-analysis.
Peng Le et al. The American journal of gastroenterology 2018 Oct - The added value of genetic information in colorectal cancer risk prediction models: development and evaluation in the UK Biobank prospective cohort study.
Smith Todd et al. British journal of cancer 2018 Oct - Somatic alterations in circulating cell-free DNA of oesophageal carcinoma patients during primary staging are indicative for post-surgical tumour recurrence.
Pasternack Helen et al. Scientific reports 2018 Oct 8(1) 14941 - Hereditary Cancer Risk Assessment and Genetic Testing in the Community-Practice Setting.
DeFrancesco Mark S et al. Obstetrics and gynecology 2018 Oct - Clinical Implications of Plasma-Based Genotyping With the Delivery of Personalized Therapy in Metastatic Non-Small Cell Lung Cancer.
Aggarwal Charu et al. JAMA oncology 2018 Oct - High patient satisfaction with a simplified BRCA1/2 testing procedure: long-term results of a prospective study.
Nilsson Martin P et al. Breast cancer research and treatment 2018 Oct - The impact of gene expression profile testing on confidence in chemotherapy decisions and prognostic expectations.
Panattoni Laura et al. Breast cancer research and treatment 2018 Oct - Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.
Bonache Sandra et al. Journal of cancer research and clinical oncology 2018 Oct - Differences in genomic abnormalities among African individuals with monoclonal gammopathies using calculated ancestry.
Baughn Linda B et al. Blood cancer journal 2018 Oct 8(10) 96 - Clinical Impact of Tumor Mutational Burden in Neuroblastoma.
Hwang William L et al. Journal of the National Cancer Institute 2018 Oct - From colorectal cancer pattern to the characterization of individuals at risk: picture for genetic research in Latin America.
Vaccaro Carlos Alberto et al. International journal of cancer 2018 Oct - Familial breast cancer and DNA repair genes: insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing.
Girard Elodie et al. International journal of cancer 2018 Oct - Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.
Walsh Michael F et al. Human mutation 2018 Nov 39(11) 1542-1552 - Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
Mester Jessica L et al. Human mutation 2018 Nov 39(11) 1581-1592 - Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards.
Danos Arpad M et al. Human mutation 2018 Nov 39(11) 1721-1732 - Prognostic significance of genetic biomarkers in idh-wild type lower- grade glioma: the need to further stratify this tumor enity - a meta-analysis.
Vuong Huy Gia et al. European journal of neurology 2018 Oct - Impact of colonoscopic screening in Familial Colorectal Cancer Type X.
Hatfield Elizabeth et al. Molecular genetics & genomic medicine 2018 Oct - Germline Mutations in ATM and BRCA1/2 Are Associated with Grade Reclassification in Men on Active Surveillance for Prostate Cancer.
Carter H Ballentine et al. European urology 2018 Oct
Chronic Disease
- Improved accuracy of clinical HLA genotyping by next-generation DNA sequencing affects unrelated donor search results for hematopoietic stem cell transplantation.
Allen Elizabeth S et al. Human immunology 2018 Oct
Ethical, Legal and Social Issues (ELSI)
- ‘Everyone Will Be Potentially Identifiable’: Booming DNA Testing Means No Identity Is Hidden on the Web
KV Brown, Bloomberg News, October 11, 2018 - Identity inference of genomic data using long-range familial searches.
Erlich Yaniv et al. Science (New York, N.Y.) 2018 Oct - ClinGen's GenomeConnect registry enables patient-centered data sharing.
Savatt Juliann M et al. Human mutation 2018 Nov 39(11) 1668-1676 - Most White Americans’ DNA Can Be Identified Through Genealogy Databases
H Murphy, New York Times, October 11, 2018
General Practice
- Distinguishing Variant Pathogenicity From Genetic Diagnosis: How to Know Whether a Variant Causes a Condition.
Biesecker Leslie G et al. JAMA 2018 Oct - Clinical whole-exome sequencing results impact medical management.
Niguidula Nancy et al. Molecular genetics & genomic medicine 2018 Oct - On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencing.
Thiffault Isabelle et al. Human mutation 2018 Nov 39(11) 1505-1516 - Updated recommendation for the benign stand-alone ACMG/AMP criterion.
Ghosh Rajarshi et al. Human mutation 2018 Nov 39(11) 1525-1530 - ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
Rivera-Muñoz Edgar A et al. Human mutation 2018 Nov 39(11) 1614-1622 - ClinGen Allele Registry links information about genetic variants.
Pawliczek Piotr et al. Human mutation 2018 Nov 39(11) 1690-1701 - Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group.
Webber Elizabeth M et al. Human mutation 2018 Nov 39(11) 1677-1685 - The value of genomic variant ClinVar submissions from clinical providers: Beyond the addition of novel variants.
Wain Karen E et al. Human mutation 2018 Nov 39(11) 1660-1667 - ClinVar at five years: Delivering on the promise.
Landrum Melissa J et al. Human mutation 2018 Nov 39(11) 1623-1630 - Towards the integration of pharmacogenetics in psychiatry: a minimum, evidence-based genetic testing panel.
Bousman Chad et al. Current opinion in psychiatry 2018 Oct - The progression of the ClinGen gene clinical validity classification over time.
McGlaughon Jennifer L et al. Human mutation 2018 Nov 39(11) 1494-1504 - Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics.
Carrieri Daniele et al. European journal of human genetics : EJHG 2018 Oct - Behavioral impact of return of genetic test results for complex disease: Systematic review and meta-analysis.
Frieser Maia J et al. Health psychology : official journal of the Division of Health Psychology, American Psychological Association 2018 Oct - Promise of Precision Medicine in Psychiatry Nears Reality
L Davenport, Medscape, October 1o, 2018
Heart, Lung, Blood and Sleep Diseases
- Genomic Risk Prediction of Coronary Artery Disease in 480,000 Adults: Implications for Primary Prevention.
Inouye Michael et al. Journal of the American College of Cardiology 2018 Oct 72(16) 1883-1893 - Prevalence, Identification, and Scouting for Familial Hypercholesterolaemia including Registries.
Florentin Matilda et al. Current pharmaceutical design 2018 Oct - Role of PCSK9 inhibitors in high risk patients with dyslipidemia: Focus on familial hypercholesterolemia.
Papademetriou Vasilios et al. Current pharmaceutical design 2018 Oct - Familial Hypercholesterolemia in Children and Adolescents: Diagnosis and Treatment.
Maliachova Olga et al. Current pharmaceutical design 2018 Oct - Detecting familial hypercholesterolemia earlier in life by actively searching for affected children:The DECOPIN project.
Ibarretxe Daiana et al. Atherosclerosis 2018 Oct 278210-216 - Familial Hypercholesterolaemia Diagnosis and Management.
Alonso Rodrigo et al. European cardiology 2018 Aug 13(1) 14-20 - Guest Editorial : Reducing Risk in Familial Hypercholesterolaemia and Severe Dyslipidaemia: Novel Drugs Targeting PCSK9.
Vallejo-Vaz Antonio J et al. European cardiology 2018 Aug 13(1) 7-8 - ClinVar database of global familial hypercholesterolemia-associated DNA variants.
Iacocca Michael A et al. Human mutation 2018 Nov 39(11) 1631-1640 - Influence of centre expertise on the diagnosis and management of hypertrophic cardiomyopathy: A study from the French register of hypertrophic cardiomyopathy (REMY).
Mirabel Mariana et al. International journal of cardiology 2018 Sep - Correlation between HLA-DQB1*06:02 and narcolepsy with and without cataplexy: approving a safe and sensitive genetic test in four major ethnic groups. A systematic meta-analysis.
Capittini C et al. Sleep medicine 2018 Sep 52150-157 - Diabetes is associated with an increased risk of cardiovascular disease in patients with familial hypercholesterolemia.
Paquette Martine et al. Journal of clinical lipidology 2018 Sep - Contributions of Public Health in Reducing the Population Burden of Familial Hypercholesterolemia: Challenges and Opportunities
MJ Khoury et al, CDC Blog Post, October 17, 2018 - Integration of child-parent screening and cascade testing for familial hypercholesterolaemia.
Wald David S et al. Journal of medical screening 2018 Oct 969141318796856 - Perspectives from a state genetics coordinator: Public health’s role in addressing familial hypercholesterolemia (FH) in the United States
Deb Lochner Doyle, Blog Post, October 17, 2018 - New horizons in the pathogenesis, pathophysiology and treatment of familial hypercholesterolaemia.
Viigimaa Margus et al. Current pharmaceutical design 2018 Oct
Newborn Screening
- Economic impact of screening for X-linked Adrenoleukodystrophy within a newborn blood spot screening programme.
Bessey Alice et al. Orphanet journal of rare diseases 2018 Oct 13(1) 179
Pharmacogenomics
- Effect of genetic and patient factors on warfarin pharmacodynamics following warfarin withdrawal: Implications for patients undergoing surgery.
Abohelaika Salah et al. Thrombosis research 2018 Oct 171167-170 - Implementation of a pharmacogenomics education program for pharmacists.
Formea Christine M et al. American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists 2018 Oct - Utility of Integrated Analysis of Pharmacogenomics and Pharmacometabolomics in Early Phase Clinical Trial: A Case Study of a New Molecular Entity.
Oh Jaeseong et al. Genomics & informatics 2018 Sep 16(3) 52-58 - Translating genotype data of 44,000 biobank participants into clinical pharmacogenetic recommendations: challenges and solutions.
Reisberg Sulev et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct
Reproductive Health
- Offering a choice between NIPT and invasive PND in prenatal genetic counseling: the impact of clinician characteristics on patients' test uptake.
van der Steen Sanne L et al. European journal of human genetics : EJHG 2018 Oct - Clinical utility of exome sequencing in the prenatal diagnosis of congenital anomalies: A Review.
Mone Fionnuala et al. European journal of obstetrics, gynecology, and reproductive biology 2018 Oct 23119-24 - Preimplantation genetic testing for aneuploidy: costly or cost effective?
Robins Jared C et al. Fertility and sterility 2018 Oct 110(5) 851 - Preimplantation genetic testing for aneuploidy is cost-effective, shortens treatment time, and reduces the risk of failed embryo transfer and clinical miscarriage.
Neal Shelby A et al. Fertility and sterility 2018 Oct 110(5) 896-904 - Diagnostic efficacy of blastocoel fluid and spent media as sources of DNA for preimplantation genetic testing in standard clinical conditions.
Capalbo Antonio et al. Fertility and sterility 2018 Oct 110(5) 870-879.e5 - Preimplantation genetic testing for complex chromosomal rearrangement carriers by next-generation sequencing.
Brunet Beatrice Chung Fat King et al. Reproductive biomedicine online 2018 37(3) 375-382 - Clinical utility of expanded carrier screening: results-guided actionability and outcomes.
Johansen Taber Katherine A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct
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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