scholarly journals ToxNav germline genetic testing and PROMinet digital mobile application toxicity monitoring: Results of a prospective single‐center clinical utility study—PRECISE study

2019 ◽  
Vol 8 (14) ◽  
pp. 6305-6314
Author(s):  
Lennard Y. W. Lee ◽  
Thomas Starkey ◽  
Shivan Sivakumar ◽  
Susan Fotheringham ◽  
Guy Mozolowski ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Mobile Application ◽  
Clinical Utility ◽  
Single Center ◽  
Toxicity Monitoring ◽  
Precise Study

scholarly journals Clinical utility of combined preimplantation genetic testing methods in couples at risk of passing on beta thalassemia/hemoglobin E disease: A retrospective review from a single center

PLoS ONE ◽  
2019 ◽  
Vol 14 (11) ◽  
pp. e0225457 ◽  
Author(s):  
Chonthicha Satirapod ◽  
Matchuporn Sukprasert ◽  
Bhakbhoom Panthan ◽  
Angkana Charoenyingwattana ◽  
Pawares Chitayanan ◽  
...  
Keyword(s):  
At Risk ◽  
Genetic Testing ◽  
Retrospective Review ◽  
Clinical Utility ◽  
Beta Thalassemia ◽  
Single Center ◽  
Testing Methods ◽  
Preimplantation Genetic Testing ◽  
Hemoglobin E ◽  
Hemoglobin E Disease

Clinical utility of genetic testing in kidney transplantation

2021 ◽  
Vol 132 ◽  
pp. S134
Author(s):  
Lauren Beretich ◽  
Sarah McCormick ◽  
Trudy McKanna ◽  
Hossein Tabriziani ◽  
Paul Billings ◽  
...  
Keyword(s):  
Kidney Transplantation ◽  
Genetic Testing ◽  
Clinical Utility

scholarly journals Genetic testing for color vision deficiency

2017 ◽  
Vol 1 (s1) ◽  
pp. 32-34
Author(s):  
Andi Abeshi ◽  
Alice Bruson ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Leonardo Colombo ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Genetic Testing ◽  
Color Vision ◽  
Clinical Utility ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Clinical Findings ◽  
Color Vision Deficiency ◽  
Dark Adaptometry

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for color vision deficiency (CVD). Deuteranopia affects 1 in 12 males and is inherited in an X-linked recessive manner. It is associated with variations in the OPN1LW (OMIM gene: 300822; OMIM disease: 303900) and OPN1MW (OMIM gene: 300821; OMIM disease: 303800) genes. Tritanopia has a prevalence of 1 in 10 000, is inherited in an autosomal dominant manner, and is related to variations in the OPN1SW (OMIM gene: 613522; OMIM disease: 190900) gene. Blue cone monochromatism has a prevalence of 1 in 100 000, is inherited in an X-linked recessive manner and is related to mutations in the OPN1LW (OMIM gene: 300822; OMIM disease: 303700) and OPN1MW (OMIM gene: 300821; OMIM disease: 303700) genes. Clinical diagnosis is based on clinical findings, ophthalmogical examination, family history, electroretingraphy, color vision testing and dark adaptometry. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

The clinical utility of genetic testing of tissues from pregnancy losses

2016 ◽  
Vol 125 (7) ◽  
pp. 867-873 ◽  
Author(s):  
CA Waterman ◽  
P Batstone ◽  
N Bown ◽  
L Cresswell ◽  
C Delmege ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Utility

Abstract 12436: App-Based EMS to ED Communication May Improve Survival to Discharge Rates for OHCA Survivors

Circulation ◽  
2021 ◽  
Vol 144 (Suppl_2) ◽  
Author(s):  
Christian Abrahim ◽  
Alina Capatina ◽  
Arvind Kalyan-Sundaram ◽  
Amir Lotfi
Keyword(s):  
Mobile Application ◽  
Emergency Services ◽  
Survival Rates ◽  
Gps Tracking ◽  
Standard Group ◽  
Single Center ◽  
Appropriate Care ◽  
Discharge Rates ◽  
Improvement In Survival ◽  
Hospital Cardiac Arrest

Background: Survival rates for Out-of-Hospital Cardiac Arrest (OHCA) remain low despite advances in therapeutics. Although it seems intuitive, there is little evidence to support a benefit from early activation of emergency services at receiving hospitals from improved Emergency Medical Services provider (EMS) communication. We hypothesize that early, app-based communication from EMS in the field to in-hospital providers may improve survival to discharge rates. Methods: We utilized the General Devices Company, Inc. e-BridgeTM mobile application. EMS Providers were trained to use the app and dedicated devices and staff were stationed to monitor EMS transmissions to the emergency department (ED). A single-center, retrospective observational study was conducted on patients transferred to our institution for resuscitated OHCA. We identified 45 cases with OHCA admitted to our institution between February and July 2020 that utilized the app. We excluded interfacility transfers as well as patients certified deceased on the field. Given that standard, radio-based communication with EMS occurs 5 minutes prior to presentation, we used 5 minutes as the cutoff between our standard and intervention groups. Results: Of 45 cases, 29 had established communication using the app prior to 5 minutes, with the remaining 16 being considered in the standard group. We noted that 24% of patients (7 of 29) with early EMS notification survived to discharge compared to 0 of the 16 patients in the standard group. There was also an improvement in door-admission times from the ED to appropriate care units in this group (156 versus 228 minutes). Conclusion: Implementation of app-based communication between EMS providers and in-hospital providers with GPS tracking led to a trend to improvement in survival to discharge as well as time to admission from the ED in patients admitted for OHCA.

scholarly journals Measuring clinical utility in the context of genetic testing: a scoping review

2020 ◽  
Author(s):  
Shantel E. Walcott ◽  
Fiona A. Miller ◽  
Kourtney Dunsmore ◽  
Tanya Lazor ◽  
Brian M. Feldman ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Scoping Review ◽  
Clinical Utility

scholarly journals Genetic testing for Mendelian myopia

2017 ◽  
Vol 1 (s1) ◽  
pp. 74-76
Author(s):  
Andi Abeshi ◽  
Pamela Coppola ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Leonardo Colombo ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Genetic Testing ◽  
Clinical Utility ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Scientific Literature ◽  
Genetic Test ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Recessive Transmission

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for Mendelian myopia (MM), a large and heterogeneous group of inherited refraction disorders. Variations in the SLC39A5, SCO2 and COL2A1 genes have an autosomal dominant transmission, whereas those in the LRPAP1, P3H2, LRP2 and SLITRK6 genes have autosomal recessive transmission. The prevalence of MM is currently unknown. Clinical diagnosis is based on clinical findings, family history, ophthalmological examination and other tests depending on complications. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.

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