Genetic testing in the cloud

Just about anything can be delivered as a cloud service, and as if to prove that point, a US-based specialist in delivering genomic data to medical professionals, Appistry Inc., has introduced Appistry CloudDx, a cloud-based service for ordering genomics tests.

By collecting established laboratory-developed tests (LDTs) into a single, easy-to-access environment and streamlining the processes associated with delivering clinically relevant results to physicians, Appistry is pitching to make CloudDx the place where community physicians and regional hospitals can easily turn to obtain information on, and assistance with, the genomically-enhanced medicine now practiced at academic medical centres.

"Insights from genomics tests have the potential to transform patient care,” said Paul Hauptman, MD, assistant dean of clinical and translational research and professor of internal medicine at Saint Louis University School of Medicine. “The Appistry CloudDx service provides a simplified workflow and access to high-quality, established tests. Saint Louis University is working with Appistry to develop a timely process that tracks and measures the impact of these tests on patient care, information of great value to the broader medical community as it strives to tailor medical care to each individual patient.”

CloudDx provides a web-based dashboard for ordering established LDTs and tracking the status of individual orders across healthcare organisations. The cloud-based system orchestrates the flow of data and logistics among the network of service providers often needed to sequence samples, analyse sequencing data, and interpret the results for physicians.

This orchestration ensures that data and physical samples are transferred and securely managed in accordance with HIPAA and CLIA guidelines and that all processes essential for the rapid delivery of results to physicians occur consistently and efficiently.

The service will include established LDTs from leading diagnostic test providers covering a range of diseases. Currently, the system includes panels and tests for cardiomyopathy, hearing loss, lung disease, and whole genome sequencing developed by Partners HealthCare Personalized Medicine. Additional tests and test partners will be announced in the coming weeks.

It is estimated that approximately 80–90 percent of oncology occurs in a community setting. Yet these physicians are the least likely to have access to the infrastructure to support genomics testing or the expertise to apply it to patient care. For genomics to become a routine part of disease diagnosis and treatment, all physicians—regardless of geography, institutional size, or medical system affiliation—need easy ways to access tests and receive relevant results.

Additionally, the simplified workflow provided by CloudDx will enable hospitals to begin measuring and quantifying how genomics tests improve patient care and outcomes. Evidence of improved patient care and cost reductions due to genomics testing will be key in convincing insurance companies to cover the services.

“Appistry’s approach is unique, because unlike many other test developers, we aren’t attempting to dictate what science or workflow is best,” said Kevin Haar, chief executive officer of Appistry. “Appistry CloudDx collects the best tests for a range of devastating, hard-to-treat diseases and scales the test developers’ protocols to ensure accurate results and rapid turnaround. The result makes genomically enhanced medicine a viable option that can be easily implemented by physicians anywhere.”

Appistry is also used by researchers looking for world-class bioinformatics tools, cloud services, and software that streamline the analysis of next-generation sequencing data and provide easy scale for moving research-developed pipelines into production.