A reality check for molecular diagnostics in clinical practice.

摘要: Molecular diagnostics, while still evolving, has had a major impact on the practice of laboratory medicine. Overall, technologies that define molecular pathology as discipline are universally applied to support clinicians in their healthcare delivery. The began with transition few biology research tools into clinical more recent development new and instrumentation solely for practice. Concomitantly, demands expanded applications address diagnostic/prognostic, risk assessment, predisposition, therapeutic testing have far outnumbered capacity delivery systems. As this continues mature, we must be willing issues pertaining utility, financial responsibility, advanced technologies, training education. In light successes Human Genome Project other genome projects, number potential nucleic acid targets diagnostics increase. Given current it is possible develop ‘in-house’ or ‘laboratory developed’ assays routine basis purpose diagnostic testing. addition, industry rapidly providing reagents under analyte specific reagent (ASR) rule US Food & Drug Administration (FDA). critical question which these will most useful patient care? order move forward, better understand utility tests offered laboratory. For example, infectious diseases been characterized by fulfillment Koch’s postulates often associated organism pathologic process. Therefore, identifying specimen should indicate presence disease. However, an unprecedented level sensitivity specificity. Latent dormant infections, normal flora, co-infections all related microbiologic test. another through genetic genotyping, able identify gene target specimen. This qualitative type data may not sufficient without supportive outcomes data. We mutation spectra, penetrance mutation, role polymorphisms disease processes, well association haplotypes processes. A test only meaningful its interpretation. growing arena tests, paradigm shifted from technologic/scientific concern one concern. Clearly, proven itself. Yet, addition highly complex conjunction lack replacement traditional viewed increase costs. Keep mind certain circumstances, cost fact result decreased overall institutional Reimbursement varies considerably state dependent upon payor mix capitation rates.