Last Posted: Jan-18-2017 4PM
From CDC-Authored Genomics Publication Database
This database contains CDC-authored publications in public health genomics including infectious diseases, newborn screening, reproductive health, genetic testing, cancer, chronic diseases, birth defects and developmental disabilities, environmental and occupational health as well as laboratory, bioinformatics and statistical methods.
- Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.
Baker Mei W et al. Genet. Med. 2015 Feb 12. - Implementation of the first worldwide quality assurance program for cystic fibrosis multiple mutation detection in population-based screening.
Earley Marie C et al. Clin. Chim. Acta 2011 Jul 15. 412(15-16) 1376-81 - CFTR mutation analysis and haplotype associations in CF patients.
Cordovado S K et al. Mol. Genet. Metab. 2012 Feb 105(2) 249-54
From Implementation Database
This database focuses on state and national activities that integrate genomics into public health programs and clinical practice
- Showing Value in Newborn Screening: Challenges in Quantifying the Effectiveness and Cost-Effectiveness of Early Detection of Phenylketonuria and Cystic Fibrosis
[Disease: NA; Type: Data; State: Multiple States] - California Newborn Screening Program
[Disease: NA; Type: Program; State: California] - Newborn Screening Home
[Disease: NA; Type: Program; State: Indiana] - Center for Congenital and Inherited Disorders (CCID)
[Disease: Birth defects; Type: General Info; State: Iowa] - Kentucky Newborn Screening Program
[Disease: NA; Type: Program; State: Kentucky]
From Guideline Database
This database contains updated guidelines, policies and recommendations on genomic research and practice, as provided by professional organizations, federal advisory groups, expert panels and policy groups.
- The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.
Published 2015 (EuroGentest Network) - Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
Published 2014 (National Society of Genetic Counselors) - Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis.
Published 2014 (Human Genetics Society of Australasia) - ACMG position statement on prenatal/preconception expanded carrier screening.
Published 2013 (American College of Medical Genetics and Genomics) - Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for ivacaftor therapy in the context of CFTR genotype.
Published 2014 ( Clinical Pharmacogenetics Implementation Consortium ) ( Clinical Pharmacogenetics Implementation Consortium )
From Tier Table Database
CDC Office of Public Health Genomics (OPHG) conducts horizon scanning (a systematic research method to find and follow novel technologies appearing in the literature) to identify and track the progress of genomic tests as they move from research into clinical and public health practice. As an aid in organizing horizon scanning results, OPHG ranks genomic tests, and family health history applications, by levels of evidence. See detail.
| Disease/Disorder | Test to be Assessed | Intended Use | Tier Classified | Detail |
|---|---|---|---|---|
| Cystic fibrosis | CFTR (G551D) | Pharmacogenomic for ivacaftor | Tier 1  |
From HuGE Literature Finder Database
This database contains published literature on genetic associations and other human genome epidemiology
- Paranasal sinus size is decreased in CFTR heterozygotes with chronic rhinosinusitis.
International forum of allergy & rhinology 2016 Nov .
Calton Joshua B, Koripella Pradeep C, Willis Amanda L, Le Christopher H, Chiu Alexander G, Chang Eugene - Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.
Journal of medical genetics 2016 Oct .
Terlizzi Vito, Castaldo Giuseppe, Salvatore Donatello, Lucarelli Marco, Raia Valeria, Angioni Adriano, Carnovale Vincenzo, Cirilli Natalia, Casciaro Rosaria, Colombo Carla, Di Lullo Antonella Miriam, Elce Ausilia, Iacotucci Paola, Comegna Marika, Scorza Manuela, Lucidi Vincenzina, Perfetti Anna, Cimino Roberta, Quattrucci Serena, Seia Manuela, Sofia Valentina Maria, Zarrilli Federica, Amato Feli - Quality of sweat test (ST) based on the proportion of sweat sodium (Na) and sweat chloride (Cl) as diagnostic parameter of cystic fibrosis: are we on the right way?
Diagnostic pathology 2016 Oct 11 (1): 103.
Faria Alethéa Guimarães, Marson Fernando Augusto Lima, Gomez Carla Cristina de Souza, Ribeiro Maria Ângela Gonçalves de Oliveira, Morais Lucas Brioschi, Servidoni Maria de Fátima, Bertuzzo Carmen Sílvia, Sakano Eulália, Goto Maura, Paschoal Ilma Aparecida, Pereira Mônica Corso, Hessel Gabriel, Levy Carlos Emílio, Toro Adyléia Aparecida Dalbo Contrera, Peixoto Andressa Oliveira, Simões Maria Cristina Ribeiro, Lomazi Elizete Aparecida, Nogueira Roberto José Negrão, Ribeiro Antônio Fernando, Ribeiro José Dirc - FUT2 genotype influences lung function, exacerbation frequency and airway microbiota in non-CF bronchiectasis.
Thorax 2016 Aug .
Taylor Steven L, Woodman Richard J, Chen Alice Ch, Burr Lucy D, Gordon David L, McGuckin Michael A, Wesselingh Steve, Rogers Geraint - Truncating Mutations in the Adhesion G Protein-Coupled Receptor G2 Gene ADGRG2 Cause an X-Linked Congenital Bilateral Absence of Vas Deferens.
American journal of human genetics 2016 Aug 99 (2): 437-42.
Patat Olivier, Pagin Adrien, Siegfried Aurore, Mitchell Valérie, Chassaing Nicolas, Faguer Stanislas, Monteil Laetitia, Gaston Véronique, Bujan Louis, Courtade-Saïdi Monique, Marcelli François, Lalau Guy, Rigot Jean-Marc, Mieusset Roger, Bieth Er
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