Publication Date: May 10, 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
- Clinical usefulness of comprehensive genetic screening in MODY: a novel ABCC8 mutation in a previously screened family.
Johnson Stephanie Robyn et al. Journal of diabetes 2018 May - Molecular Findings in Families with an Initial Diagnose of Autosomal Dominant Retinitis Pigmentosa (adRP).
Daiger Stephen P et al. Advances in experimental medicine and biology 2018 1074237-245 - Next generation sequencing panel based on single molecule molecular inversion probes for detecting genetic variants in children with hypopituitarism.
Pérez Millán María I et al. Molecular genetics & genomic medicine 2018 May - Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
MEK Niemi, et al. BioRXiV, May 6, 2018 - Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review.
Graham Emma et al. Journal of inherited metabolic disease 2018 May - Nature or nurture: unravelling the roots of childhood behaviour disorders
G Chapman, The Guardian, May 4, 2018 - Update on diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
White Perrin C et al. Current opinion in endocrinology, diabetes, and obesity 2018 Jun 25(3) 178-184
Cancer
- Evidence-based best practices for EGFR T790M testing in lung cancer in Canada.
Stockley T et al. Current oncology (Toronto, Ont.) 2018 Apr 25(2) 163-169 - Predictors of next-generation sequencing panel selection using a shared decision-making approach.
Courtney Eliza et al. NPJ genomic medicine 2018 311 - Strategies For Clinical Implementation: Precision Oncology At Three Distinct Institutions.
Nadauld Lincoln D et al. Health affairs (Project Hope) 2018 May 37(5) 751-756 - Real-World Evidence In Support Of Precision Medicine: Clinico-Genomic Cancer Data As A Case Study.
Agarwala Vineeta et al. Health affairs (Project Hope) 2018 May 37(5) 765-772 - Delivery Of Cascade Screening For Hereditary Conditions: A Scoping Review Of The Literature.
Roberts Megan C et al. Health affairs (Project Hope) 2018 May 37(5) 801-808 - Uptake of BRCA 1/2 and oncotype DX testing by medical and surgical oncologists.
Murciano-Goroff Yonina R et al. Breast cancer research and treatment 2018 May - Study Shows Experimental Screening Test Can Detect Endometrial and Ovarian Cancers
NCI, May 2018 - Screening for Prostate Cancer: US Preventive Services Task Force Recommendation Statement
JAMA, May 8, 2018 - Circulating Tumors Cells as a Biomarker of Radiation Benefit
C Speers, JAMA Onc, May 3, 2018 - Germline Mutations in DNA Repair Genes are Associated with Bladder Cancer Risk and Unfavorable Prognosis.
Na Rong et al. BJU international 2018 May - Comprehensive Genetic Analysis of Follicular Thyroid Carcinoma Predicts Prognosis Independent of Histology.
Nicolson Norman G et al. The Journal of clinical endocrinology and metabolism 2018 May - Serum miR-22 as potential non-invasive predictor of poor clinical outcome in newly diagnosed, uniformly treated patients with diffuse large B-cell lymphoma: an explorative pilot study.
Marchesi Francesco et al. Journal of experimental & clinical cancer research : CR 2018 May 37(1) 95 - The Utility of Immunohistochemistry for Mismatch Repair Proteins on Colorectal Polyps in the Familial Cancer Clinic.
Dow Eryn et al. Internal medicine journal 2018 May - Translational Research in Familial Colorectal Cancer Syndromes.
Ford Molly M et al. Clinics in colon and rectal surgery 2018 May 31(3) 161-167 - Using Blood and Plasma MicroRNAs as a Non-Invasive Biomarker in Patients with Colorectal Cancer.
Stefanescu Horatiu et al. Clinical laboratory 2018 Mar 64(3) 257-262 - Practical consensus recommendations on management of HR + ve early breast cancer with specific reference to genomic profiling.
Aggarwal S et al. South Asian journal of cancer 7(2) 96-101 - Practical consensus recommendation on when to do BRCA testing.
Parikh Purvish M et al. South Asian journal of cancer 7(2) 106-109 - Histology of colorectal adenocarcinoma with double somatic mismatch repair mutations is indistinguishable from those caused by lynch syndrome.
Hemminger Jessica A et al. Human pathology 2018 Apr - Clinical utility of EZH1 mutations in the diagnosis of follicular-patterned thyroid tumors.
Jung Chan Kwon et al. Human pathology 2018 Apr - Comprehensive genomic transcriptomic tumor-normal gene panel analysis for enhanced precision in patients with lung cancer.
Rabizadeh Shahrooz et al. Oncotarget 2018 Apr 9(27) 19223-19232 - Ataxia-telangiectasia gene ( ATM ) mutation heterozygosity in breast cancer: a narrative review.
Jerzak K J et al. Current oncology (Toronto, Ont.) 2018 Apr 25(2) e176-e180 - Liquid Biopsy: Using DNA in Blood to Detect, Track, and Treat Cancer
Chronic Disease
- Clinical utility of FDG-PET in amyotrophic lateral sclerosis and Huntington's disease.
Agosta Federica et al. European journal of nuclear medicine and molecular imaging 2018 May - May is ALS Awareness Month; the ALS Registry Offers Hope
Ethical, Legal and Social Issues (ELSI)
- Data Sharing For Precision Medicine: Policy Lessons And Future Directions.
Blasimme Alessandro et al. Health affairs (Project Hope) 2018 May 37(5) 702-709 - Cancer, Our Genes, And The Anxiety Of Risk-Based Medicine.
Mukherjee Siddhartha et al. Health affairs (Project Hope) 2018 May 37(5) 817-820 - Protecting confidentiality in genomic studies
MIT, May 7, 2018 - Is Your Genome Really Your Own? The Public and Forensic Value of DNA
Frontline Genomics, May 3, 2018
General Practice
- Patients Armed With Their Own Genetic Data Raise Tough Questions.
Storrs Carina et al. Health affairs (Project Hope) 2018 May 37(5) 690-693 - Genetic Test Availability And Spending: Where Are We Now? Where Are We Going?
Phillips Kathryn A et al. Health affairs (Project Hope) 2018 May 37(5) 710-716 - Genomic databases weakened by lack of non-European populations- Greater diversity in genomic databases will advance precision medicine
J Mjoseth, NHGRI, May 8, 2018 - Precision Medicine in Action: How well does cascade screening for hereditary conditions work in the real world?
WD Dotson et al, CDC Blog Post, May 8, 2018 - Medicine’s Wild West: 10 new genetic tests enter the market each day
CY Johnson, Washington Post, May 7, 2018 - Genome Sequencing in the Clinic: The Past, Present, and Future of Genomic Medicine.
Prokop Jeremy W et al. Physiological genomics 2018 May - Views Of Primary Care Providers On Testing Patients For Genetic Risks For Common Chronic Diseases.
Hauser Diane et al. Health affairs (Project Hope) 2018 May 37(5) 793-800 - Precision Medicine: From Science To Value.
Ginsburg Geoffrey S et al. Health affairs (Project Hope) 2018 May 37(5) 694-701 - "All of Us" study begins to sequence and follow a million Americans.
Dyer Owen et al. BMJ (Clinical research ed.) 2018 May 361k2001 - The Post-GWAS Era: From Association to Function.
Gallagher Michael D et al. American journal of human genetics 2018 May 102(5) 717-730 - Patient-Centered Precision Health In A Learning Health Care System: Geisinger's Genomic Medicine Experience.
Williams Marc S et al. Health affairs (Project Hope) 2018 May 37(5) 757-764 - Putting The Person In Personalized Medicine Personalized Medicine: Empowered Patients In The 21st Century? By Barbara Prainsack New York (NY) : NYU Press , 2017 288 pp., $30.
Wilkins Consuelo H et al. Health affairs (Project Hope) 2018 May 37(5) 823-824 - We Need More Genetic Counselors- In discussing tests and results with patients, a specialist's touch is often needed
K Hanson, Medpage today, May 5, 2018 - All of Us Needs All of You
NIH Director's blog, May 7, 2018 - What is all of us?
NIH, YouTube Video, May 2018 - Precision Medicine
AR Weil, Health Affairs, May 2018 - Training Institute for Dissemination and Implementation Research in Health
NIH, OBSSR, 2018 - The 100 000 Genomes Project: bringing whole genome sequencing to the NHS.
Turnbull Clare et al. BMJ (Clinical research ed.) 2018 Apr 361k1687 - What is Whole Genome Sequencing?
K Grant, Public Health Matters Blog, May 2018 - Epidemiology is a science of high importance.
et al. Nature communications 2018 May 9(1) 1703 - NIH director on new DNA collection program, protecting data
CBS News, May 3,2018 - Physician interpretation of variants of uncertain significance.
Macklin Sarah K et al. Familial cancer 2018 May - An evidence-based approach to globally assess the covariate-dependent effect of the MTHFR single nucleotide polymorphism rs1801133 on blood homocysteine: a systematic review and meta-analysis.
Jin Huifeng et al. The American journal of clinical nutrition 2018 May 107(5) 817-825 - Geisinger to perform DNA sequencing as routine care
Modern Healthcare, May 6, 2018
Heart, Lung, Blood and Sleep Diseases
- Evaluating the Impact of Precision Medicine: How Ivacaftor Reduces Hospitalizations of Patients with Cystic Fibrosis
RF Green al, CDC Blog Post, May 8, 2018 - Interventions for improving adherence to iron chelation therapy in people with sickle cell disease or thalassaemia.
Fortin Patricia M et al. The Cochrane database of systematic reviews 2018 May 5CD012349 - Precision Medicine In Action: The Impact Of Ivacaftor On Cystic Fibrosis-Related Hospitalizations.
Feng Lisa B et al. Health affairs (Project Hope) 2018 May 37(5) 773-779 - A “Prime Example” of How Stroke Can Happen to Anyone
- Weighted Multi-marker Genetic Risk Scores for Incident Coronary Heart Disease among Individuals of African, Latino and East-Asian Ancestry.
Iribarren Carlos et al. Scientific reports 2018 May 8(1) 6853 - Cystic Fibrosis Disease Modifiers: Complex Genetics Defines the Phenotypic Diversity in a Monogenic Disease.
O'Neal Wanda K et al. Annual review of genomics and human genetics 2018 Apr - Genetic Infiltrative Cardiomyopathies.
Sweet Mary E et al. Heart failure clinics 2018 Apr 14(2) 215-224 - Cardiovascular Precision Medicine in the Genomics Era
AM Dainis et al, JACC, Apr 2018
Newborn Screening
- Diagnostic potential of stored dried blood spots for inborn errors of metabolism: a metabolic autopsy of medium-chain acyl-CoA dehydrogenase deficiency.
Kaku Noriyuki et al. Journal of clinical pathology 2018 May
Pharmacogenomics
- CYP2C19 or CYP3A5 Genotyping Does Not Predict Clinical Response to Clopidogrel.
Rodríguez-González Fayna et al. Journal of clinical pharmacology 2018 May - Pharmacogenomic survey of Qatari populations using whole-genome and exome sequences.
Sivadas Ambily et al. The pharmacogenomics journal 2018 May - Pharmacogenomic biomarkers: Interpretation of information included in United States and Japanese drug labels.
Shimazawa R et al. Journal of clinical pharmacy and therapeutics 2018 May
Reproductive Health
- Preferences for prenatal testing among pregnant women, partners and health professionals.
Lund Ida Charlotte Bay et al. Danish medical journal 2018 May 65(5)
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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