In part one of this two-part blog series, Maryellen de Mars, PhD, of the Medical Device Innovation Consortium (MDIC) explored the inception and goals of the Somatic Reference Sample (SRS) Initiative, a collaborative effort aimed at finetuning next-generation sequencing (NGS)-based cancer diagnostics through the development of standardized reference samples and datasets. MDIC has teamed up with Horizon Discovery (now part of Revvity) to create the reference samples. In this second and final part of the blog series, we dive deeper into the multifaceted utility of these SRSs and how they may reshape the landscape of NGS-based cancer diagnostics and treatment.
The SRS Initiative's objective
The SRS Initiative is designed to elevate the accuracy of NGS-based cancer diagnostics. One of its primary goals is to establish publicly available reference samples and a global genomic data resource library. These resources are expected to be instrumental across the entire life cycle of NGS-based diagnostics. As Alan Fletcher, PhD, senior vice president of Life Sciences at Revvity, notes, "Oncology reference standards are essential to unlocking tomorrow's discoveries."
From diagnostic development to regulatory approval
The SRS Initiative is also about transforming the way we approach cancer diagnostics.
- Diagnostic development: Reference samples are the cornerstone of diagnostic development. They serve as crucial tools for researchers and developers, ensuring that NGS-based tests are accurate, reliable, and consistent. Diagnostic development becomes more streamlined and efficient as researchers can use standardized SRSs to finetune and validate diagnostic tests.
- Regulatory approvals: Bringing new diagnostic tests to market often involves navigating complex regulatory pathways. Having access to well-characterized reference samples can augment this process. Cancer diagnostic manufacturers and testing laboratories can use these samples to assess the performance of new tests, speeding up test validation.
Enhancing reimbursement decisions
Healthcare reimbursement decisions are critical to ensuring patients can access innovative diagnostics. The SRS Initiative's standardized reference samples can provide valuable data to support these decisions. Insurers and health authorities can rely on the consistency and accuracy of SRSs to evaluate the effectiveness and value of NGS-based diagnostics. This, in turn, can lead to more favorable reimbursement outcomes for these tests.
Adoption and disease management
- Adoption: The availability of standardized reference samples can drive the adoption of NGS-based cancer diagnostics across healthcare systems. Clinicians and laboratories can have greater confidence in these tests, knowing that they have been rigorously validated against SRSs.
- Disease management: Beyond diagnosis, SRSs hold promise in disease management. They can be used to monitor disease progression, treatment effectiveness, and the emergence of new mutations. Continuous monitoring can help personalize treatments and improve outcomes.
Supporting precision medicine
Precision medicine is the future of health care, and SRSs are integral to its success. These reference samples help identify specific genetic mutations associated with various cancers. This information empowers oncologists to select targeted therapies that are more likely to be effective, minimizing side effects and improving patient outcomes. The reference samples and data resource library will foster ongoing advancements in cancer diagnostics, benefiting patients with more accurate diagnoses and treatment options.
The manufacturing of SRSs is set to conclude by February 2024. Following this, a comprehensive characterization, data validation, and integration phase will ensure the quality and reliability of the samples. By mid-2024, fully characterized SRSs are expected to be commercially available through Horizon Discovery (Revvity). Moreover, the characterization data will be made accessible through public databases, enhancing transparency and accessibility for the global scientific community.
A sustainable model for the future
The SRS Initiative isn't just a one-time effort. It's laying the groundwork for a sustainable model of somatic reference sample and dataset generation. This means that as new cancer variants and diagnostic technologies emerge, the SRS Initiative can adapt and expand its offerings, which is crucial in an ever-evolving field like oncology.
The impact of the SRS Initiative extends beyond reference sample development: It's about transforming the entire ecosystem of NGS-based cancer diagnostics. From accelerating diagnostic development and regulatory approvals to enhancing reimbursement decisions and supporting precision medicine, SRSs can make a profound difference in the lives of cancer patients.
As we continue on the journey of the SRS Initiative, we can expect to see more innovations and applications emerge. We look forward to seeing how these reference samples will shape the future of cancer diagnostics and treatment and be applicable to other diseases. The possibilities are endless and the impact is bound to be extraordinary.