Emergency medical genomes: a breakthrough application of precision medicine

Stephen F Kingsmore, Josh Petrikin, Laurel K Willig, Erin Guest, Stephen F Kingsmore, Josh Petrikin, Laurel K Willig, Erin Guest

Abstract

Today there exist two medical applications where relatively strong evidence exists to support the broad adoption of genome-informed precision medicine. These are the differential diagnosis of single gene diseases and genotype-based selection of patients for targeted cancer therapies. However, despite the availability of the $1000 genome and $700 exome for research, there is as yet little broad uptake of genomic medicine, even in these applications. Significant impediments to mainstream adoption exist, including unavailability in many institutions, lack of scalability in others, a dearth of physician understanding of interpreted genome or exome results or knowledge of how to translate consequent precision medicine care plans, and a lack of test reimbursement. In short, genomic medicine lacks a breakthrough application. Rapid genome sequencing of acutely ill infants with suspected genetic diseases (STATseq) may become that application when scaled to dozens of trios per day without loss of timeliness or accuracy. Also critical for broad adoption is embedding STATseq in software for timely patient ascertainment, augmented intelligence for interpretation, explanation of results for generalist physicians, and dynamic precision medicine decision support.

Figures

Fig. 1
Fig. 1
Near-term improvements in clinical genomes to enable 14 h time to molecular diagnosis of genetic disease. Note that time of interpretation us highly variable. Fifteen minutes is a lowest estimate. Abbreviations: FDA US Food and Drug Administration; nt nucleotide, QC quality control

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Source: PubMed

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