Understanding genetic testing in primary care

Abstract

As genetic tests are expanding, primary care providers have an increasing need to integrate tests into their practice. The purpose of this project is to offer an evidence-based clinical review, regarding types of genetic tests and their application in primary care. Practical information on the utilization of karyotype, microarray, polymerase chain reaction, fluorescence in situ hybridization, and whole exome sequencing were searched. Karyotype and microarray can be used when considering pediatric disorders. PCR is most useful for infectious processes, while FISH has a niche with malignancies. Finally, WES is best used when other diagnostic avenues have been inconclusive or unrevealed disorders. The article was submitted for publication at JAAPA to provide a needed resource in appropriately utilizing genetic testing in primary care.