Two things become clear when the steps announced recently by the FDA to ensure the accuracy, consistency, and reliability of laboratory-developed tests (LDTs) are considered together with the agency’s now-infamous warning letter last November to 23andMe. First, the agency sees the importance of keeping physicians in the loop between test providers and potential patients. Second, for genomics testing to become routine, analytical and clinical validation of LDTS will be essential.
But where will the FDA ultimately decide to draw its regulatory boundaries? In its press release, the agency refers to LDTs “which are designed, manufactured and used within a single laboratory.” Will the FDA choose to regulate wet lab activities up to the point where physical samples become data files? Or will its guidance also extend through such activities as analysis, variant calling, and clinical interpretation?
While working with physicians, test developers, and other service providers to build a cloud-based service for genomics testing, Appistry learned several things:
- Genomics testing is expensive and complex.
- Genomics testing generates large volumes of data that must be tracked and managed in accordance with HIPAA and other regulatory mandates.
- Diverse experience is required for the results of genomics testing to be effectively interpreted and used by physicians.
Given the volume, size, and scale of genomics data, does it make any sense to assume the storage, management, analysis, and interpretation of that data can be handled within a single lab? Even CLIA-compliant labs are leveraging external data centers and compute resources. At some point, regulations will need to reflect the importance of data analysis, infrastructure and processing, reproducibility of analyses, and data center and cloud-based operations in providing results that physicians can understand and act on.
Ultimately, genomics testing is less a single lab process than an orchestrated workflow of services designed to perform a validated test in a specific, reproducible way. Ensuring the right test is available for the right patients at the right time to impact diagnosis and treatment requires coordinated delivery of sequencing, analysis, and interpretation services—a certified workflow delivering certified services rather than a single certified lab delivering a “test.”
A better solution, in our opinion, is not for providers to continually set out shingles for more and more tests, but instead to orchestrate the delivery of existing tests, within a framework that coordinates all of the services necessary to perform tests consistently, reliably, and fast. This accomplishes two things. It helps physicians and hospitals, anywhere, select tests relevant to their patients and receive results they can understand and use. And it also provides a framework in which hospitals and test providers can manage and collect data to study the impact the tests have on patient treatment.
A Deep-dive Into Specialty Pharma
A specialty drug is a class of prescription medications used to treat complex, chronic or rare medical conditions. Although this classification was originally intended to define the treatment of rare, also termed “orphan” diseases, affecting fewer than 200,000 people in the US, more recently, specialty drugs have emerged as the cornerstone of treatment for chronic and complex diseases such as cancer, autoimmune conditions, diabetes, hepatitis C, and HIV/AIDS.
This latter point speaks to the FDA’s concerns in its letter to 23andMe, as well as to discussions at a meeting of the National Human Genome Research Institute, which called for better ways to generate evidence of a test’s impact on medical outcomes. Saint Louis University is planning to use our solution, Appistry CloudDx, not just as a portal for physicians, but as a way to do research on efficacy and cost-effectiveness and to track outcomes. Ray Tait, Ph.D., vice president of research at Saint Louis University, spoke at length about the possibilities in an interview with Healthcare Informatics in May.
We’ll be watching closely to see what specific regulations the FDA ultimately issues given the need to regulate not just traditional lab work, but the broader set of services necessary to meet the FDA’s stated objective of delivering the right test to the right patient at the right time to affect patient diagnosis and treatment.
