From Implementation Database
This database focuses on state and national activities that integrate genomics into public health programs and clinical practice
- Genetic Program Manual for Local Health Departments (August, 2008) (Iowa)[PDF 2.45 MB]
[Disease: Multiple Diseases; Type: Tools|Program; State: Illinois]
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.
- Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
Published 2014 (National Society of Genetic Counselors)
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 |
|---|---|---|---|---|
| Single gene disorders and chromosomal abnormalities where diagnosis and management may require use of genetic tests even without formal evidence synthesis and reviews by evidence panels | Various molecular, cytogenetic biochemical and other tests** | Diagnosis, management, carrier testing | Tier 2  |
From HuGE Literature Finder Database
This database contains published literature on genetic associations and other human genome epidemiology
- Application of a molecular diagnostic algorithm for haemophilia A and B using next-generation sequencing of entire F8, F9 and VWF genes.
Thrombosis and haemostasis 2016 Oct 117 (1): .
Bastida Bermeja Jose Maria, González-Porras Jose Ramon, Jiménez Cristina, Benito Rocio, Ordoñez Gonzalo R, Álvarez-Román Maria Teresa, Fontecha M Elena, Janusz Kamila, Castillo David, Fisac Rosa María, García-Frade Luis Javier, Aguilar Carlos, Martínez María Paz, Bermejo Nuria, Herrero Sonia, Balanzategui Ana, Martin-Antorán Jose Manuel, Ramos Rafael, Cebeiro Maria Jose, Pardal Emilia, Aguilera Carmen, Pérez-Gutierrez Belen, Prieto Manuel, Riesco Susana, Mendoza Maria Carmen, Benito Ana, Hortal Benito-Sendin Ana, Jiménez-Yuste Víctor, Hernández-Rivas Jesus Maria, García-Sanz Ramon, González-Díaz Marcos, Sarasquete Maria Eugen - Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.
Genetic testing and molecular biomarkers 2016 Apr .
Silver Ari J, Larson Jessica L, Silver Maxwell J, Lim Regine M, Borroto Carlos, Spurrier Brett, Morriss Anne, Silver Lee - A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population.
Clinical genetics 2015 Jul 88 (1): 74-9.
Anderson S L, Jalas C, Fedick A, Reid K F, Carpenter T O, Chirnomas D, Treff N R, Ekstein J, Rubin B - SMA carrier testing: a meta-analysis of differences in test performance by ethnic group.
Prenatal diagnosis 2014 Dec 34 (12): 1219-26.
MacDonald William Kim, Hamilton David, Kuhle Stef - Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.
PloS one 2014 9 (8): e104281.
Watson Christopher M, El-Asrag Mohammed, Parry David A, Morgan Joanne E, Logan Clare V, Carr Ian M, Sheridan Eamonn, Charlton Ruth, Johnson Colin A, Taylor Graham, Toomes Carmel, McKibbin Martin, Inglehearn Chris F, Ali Man
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