Thesis
Assessing the association between the increased resolution of the signaturechip WG and the abnormality detection rate
Washington State University
Master of Health Policy and Administration (MHPA), Washington State University
2009
Handle:
https://hdl.handle.net/2376/100215
Abstract
Microarray technology is quickly becoming the test of choice in diagnosing genetic disorders of patients with mental retardation, developmental delay, dysmorphic features, and seizure disorders. Signature Genomic Laboratories has developed a new version of the microarray with increased resolution. The SignatureChip, has the ability to detect losses or gains of genetic material as well as the location of abnormalities, many of which correspond to particular diseases or defects that are treatable with proper health care. The purpose of this study is to determine if the increase in resolution, from SignatureChip Version 4.0 to SignatureChip WG, is associated with an increase in the abnormality detection rate. Two hundred twelve patients were tested using both versions of the microarray. Twentyfour of the 212 patients had abnormal results using SignatureChip Version 4.0 corresponding to an 11.3% abnormality detection rate. As requested by the patients' physicians, these patient samples had follow-up testing with the newer version of the microarray, SignatureChip WG. Of the 212 patients, 56, including the original 24 patients with abnormalities, were found to have abnormal results, resulting in an abnormality detection rate of 26.4%. These results lead to a McNemar's chi square value of 32.0 with an associated p value of less than 0.001 and one degree of freedom. The difference between the abnormality detection rates of the two microarrays, as denoted by the p value, is statistically significant. The introduction of microarrays into the clinical setting has proven as effective, if not more effective, in detecting gains or losses in patients' genetic makeup. While this technology continues to show promising advances in genetic diagnostic testing, analysts must pay particular attention to unclear copy number variants. These are common in the normal population and too much reliance on them results in inaccurate reporting. The results of this study have a number of implications for patients, their clinicians, and Signature Genomic Laboratories. It is clear that the evolution of this technology is inevitable, and this study provides evidence that for now, the evolution has value for the patients and the company in an increased detection rate.
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Details
- Title
- Assessing the association between the increased resolution of the signaturechip WG and the abnormality detection rate
- Creators
- Kimberly A. Leiser
- Contributors
- Fevzi Akinci (Degree Supervisor)
- Awarding Institution
- Washington State University
- Academic Unit
- Health Policy and Administration, Department of
- Theses and Dissertations
- Master of Health Policy and Administration (MHPA), Washington State University
- Publisher
- Washington State University; Pullman, Wash. :
- Identifiers
- 99900525171201842
- Language
- English
- Resource Type
- Thesis