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Challenges and Opportunities in bringing Genomic Testing into the Community Oncology Setting

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Challenges and Opportunities in Bringing Genomic Testing into the Community Oncology Setting

SNP microarray platforms have proven to yield important diagnostic data in the pediatric and obstetric settings; however, less is currently published about the clinical utility of adding SNP microarray analysis for patients with various hematologic disorders and solid tumors at diagnosis.  Further, to realize the power that genomics has, testing must be implemented in a cost-effective and patient beneficial manner; clinical utility depends on the context for testing1, however achieving a diagnosis has inherent clinical utility. 

As geneticists, part of the work ahead includes educating ourselves as well as our oncology and pathology colleagues regarding the implications of genomic testing for patients in the oncology setting.  Based on our experience, education regarding the relationship between, and appropriate use of SNP array, FISH (fluorescent in situ hybridization), metaphase analysis and sequencing is lacking but needed.

In order to address the educational component, a genetic counselor was incorporated into the project as a resource for the ordering physicians.

•Comparison of data using our standard MDS FISH panel, which includes 6 chromosome targets, showed SNP microarray analysis in patients with normal cytogenetics increases the additional diagnostic yield from 4% using FISH to 34% using SNP CMA.
•Germline copy changes of clinical relevance were identified in 12.9% of the total sample population, requiring genetic counseling and follow up



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