NGS Improves Feasibility of Clinical Trials for Rare Disease Populations
By: Brad Smith, PhD | February 25, 2015
Recent advances in personalized medicine and genomic technologies have led to innovative developments in oncology research and practice. As we develop a better understanding of the biology of cancer we are able to develop drugs to target niche populations of patients with tumors that demonstrate unique molecular alterations. The ability to treat these sub-populations with targeted treatments often results in higher response rates among trial participants which enables the industry to drive these drugs to market faster giving patients access to these important treatments. This is exciting news for researchers, patients, physicians and payers, all of whom benefit from a precision medicine approach for cancer treatment.
However, by narrowing the target population down to such specific criteria, we introduce new challenges into the research process. Running a clinical trial for a specific, rare sub-group of cancer sufferers means trial operators now face the same obstacles currently faced in any rare disease research – the population of patients is so small it becomes extremely costly and time-consuming to recruit the necessary numbers of patients to meet trial criteria.
This is especially challenging for oncology research, because trial leaders typically need to collect difficult to obtain patient samples, such as fresh biopsies, from potential patients in targeted populations to determine whether they fit the criteria -- knowing full well that the test fail rate will be extremely high. Even if they can convince enough patients to submit to a tumor biopsy, the high fail rate means these researchers will often initiate several clinical trial sites that fail to uncover a single patient.
NGS and liquid biopsies: A more efficient approach
In order to bring these targeted treatments to market as quickly and cost effectively as possible, we need to find more efficient ways to identify these patients for research. Next generation sequencing technology provides a powerful tool to achieve this goal as well as enable novel trial approaches and offer much broader information to the patient and the researcher.
Recent advances in sequencing technology provide oncology researchers with the ability to conduct comprehensive profiling to identify genomic alterations in cancer tumors and even from DNA samples extracted from blood. The circulating tumor DNA may be analyzed for mutations that are unique to the tumor and thus become a specific cancer biomarker that can be detected, measured, and tracked. For example, the ability to determine genetic alterations using liquid biopsies helps to improve operational feasibility of targeted clinical trials such as trials targeting rare alterations in non-small cell lung cancer including EGFR mutations or cMet amplification. The capability will also be essential as cancer moves to a chronic disease requiring periodic monitoring for the emergence of drug resistance.
The ability to screen patients using blood samples and next generation sequencing offers the following benefits for recruiting patients to trials for targeted cancer treatments:
Our ability to create treatments designed for tumor with specific genomic alterations is a vital step in the battle against cancer. Next generation sequencing technologies and liquid biopsies can help us bring these treatments to market faster to better meet the needs of cancer patients around the world.