The accuracy of computer‐based diagnostic tools for the identification of concurrent genetic disorders

@article{Wadhwa2018TheAO,
  title={The accuracy of computer‐based diagnostic tools for the identification of concurrent genetic disorders},
  author={Raoul R. Wadhwa and Deborah Y. Park and Marvin R Natowicz},
  journal={American Journal of Medical Genetics Part A},
  year={2018},
  volume={176},
  pages={2704 - 2709}
}
The increasing use of next‐generation sequencing, especially clinical exome sequencing, has revealed that individuals having two coexisting genetic conditions are not uncommon occurrences. This pilot study evaluates the efficacy of two methodologically distinct computational differential diagnosis generating tools—FindZebra and SimulConsult—in identifying multiple genetic conditions in a single patient. Clinical query terms were generated for each of 15 monogenic disorders that were effective… Expand

References

SHOWING 1-10 OF 27 REFERENCES
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
TLDR
The results show that structured clinical ontologies can be used to determine the degree of overlap between two mendelian diseases in the same patient; the diseases can be distinct or overlapping. Expand
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions
TLDR
The utility of family-based exome sequencing and analysis is demonstrated to obtain the highest reported detection rate in an unselected clinical cohort, illustrating the utility of diagnosticExome sequencing as a transformative technology for the molecular diagnosis of genetic disease. Expand
Molecular Diagnostic Experience of Whole-Exome Sequencing in Adult Patients
TLDR
Early WES experience in adults demonstrates molecular diagnoses in a substantial proportion of patients, informing clinical management, recurrence risk, and recommendations for relatives, informing the Mendelian basis of genetic disease in adults. Expand
Computer-assisted initial diagnosis of rare diseases
TLDR
The Rare Disease Discovery prediction engine appears to provide a fast and robust method for initial assisted differential diagnosis of rare diseases and is robust to both absent and unrelated symptoms. Expand
Clinical exome sequencing: results from 2819 samples reflecting 1000 families
TLDR
It is suggested that WES has a better yield in patients that present with several symptoms, rather than an isolated abnormality, and is recommended as a first-line diagnostic in all cases without a clear differential diagnosis. Expand
PhenoTips: Patient Phenotyping Software for Clinical and Research Use
TLDR
By collecting, classifying, and analyzing phenotypic information during the patient encounter, PhenoTips allows for streamlining of clinic workflow, efficient data entry, improved diagnosis, standardization of collected patient phenotypes, and sharing of anonymized patient phenotype data for the study of rare disorders. Expand
Evidence-based decision support for pediatric rheumatology reduces diagnostic errors
TLDR
Assessment of the potential of diagnostic decision support software to alleviate the shortage of experts in pediatric rheumatology and similarly underserved specialties by improving generalists’ ability to evaluate and diagnose patients presenting with musculoskeletal complaints suggests that decision support can reduce diagnostic errors and improve use of relevant information by generalists. Expand
Performance of four computer-based diagnostic systems.
TLDR
A profile of the strengths and limitations of the diagnostic capabilities of four internal medicine diagnostic systems: Dxplain, Iliad, Meditel, and QMR is provided. Expand
Genetic disorders in children and young adults: a population study.
TLDR
The data base of an ongoing population-based registry with multiple sources of ascertainment was used to estimate the present population load from genetic disease and it was found that, before approximately age 25 years, greater than or equal to 53/1,000 live-born individuals can be expected to have diseases with an important genetic component. Expand
Clinical Practice Guidelines for Rare Diseases: The Orphanet Database
TLDR
An analysis of selected CPGs by medical domain coverage, prevalence of diseases, languages and type of producer is provided, and the variability in CPG quality and availability is addressed. Expand
...
1
2
3
...