Flexible alternative to traditional send out services

Published on 03/07/2022

3 min read

Increased access to genomic testing can help fulfill the promise of making precision medicine accessible to all, but the upfront investment required for institutions to start their own sequencing labs remains a barrier. This challenge can be overcome by using sequencing service.

As the demand for genetic testing continues to grow, more institutions are looking for ways to incorporate next generation sequencing (NGS) to augment their in-house capabilities. Increased access to genomic testing can help fulfill the promise of making precision medicine accessible to all, but the upfront investment required for institutions to start their own sequencing labs remains a barrier. To overcome this challenge, institutions can send their samples to service laboratories for testing and analysis, and this has traditionally been known as using a send-out service.

When using a traditional send-out service, samples are sent to a reference lab and the institution receives a report with the relevant findings. Outsourcing to reference labs does increase access to NGS tests, however, it can come with its own challenges. With traditional send-out services, institutions can struggle with turnaround time and a lack of data ownership or customizable reports. Turnaround time is crucial when trying to make decisions in a short timeframe. Access to the original sequencing data allows institutions to not only increase their knowledge of genomic data interpretation, but also enables the ability to aggregate data for further analysis that may be relevant for their region or field. The reporting needs of each institution can vary greatly, and not all reference labs can provide the flexibility in reporting needed to meet these needs.

SOPHiA Integrated Solutions presents an alternative to using a traditional send-out sequencing service. With SOPHiA Integrated Solutions, users send their specimens or nucleic acids to one of the sequencing partners within our global network. The chosen partner performs the wet-lab and sequencing work, and then the original sequencing data is securely transferred to the user via SOPHiA DDM™. This allows the institution to do their own interpretation with the help of powerful algorithms within the SOPHiA DDM™ platform. Through SOPHiA Integrated Solutions, institutions maintain ownership of the data which can be used for future aggregated analysis. The SOPHiA DDM™ platform also provides access to reporting tools with unlimited customizable reports so information can be communicated clearly and efficiently.

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