Quality Issues for Genetic Tests Limiting Personalized Therapy for Patients With Cancer


Thousands of patients who could have received personalized medicine for their cancer tumors were instead given chemotherapy drugs with more toxic side effects and less therapeutic benefit.


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Additionally, data from a Diaceutics report—citing incorrect, inconclusive, and delayed test results from 13 cancer-linked biomarkers— suggests that suboptimal testing is resulting in billions of dollars lost for pharmaceutical companies who sponsor targeting drugs (published in GenomeWeb; May 22, 2017).

Authors of the report assert that because of inadequate investments by the pharmaceutical companies in diagnostic developers to ensure faster turnaround times, more accurate data, and sufficient sample quality, pharma companies lose and estimated $8.3 billion in annual drug revenue in the US alone.

As personalized medicine and targeting drug therapies become more and more prevalent in cancer treatment, pharmaceutical companies are beginning to integrate diagnostics as a larger component of their drug development. Diaceutics estimates that 75% of future drug therapy launches will have a diagnostics component from 2020 onwards. But before this happens, pharmaceutical companies must be more diligent in alleviating quality issues related to diagnostics, advance different types of tests that get their drugs to the right patients, and educate physicians and patient advocacy organizations about testing, the authors wrote.

Within drug and diagnostic co-development programs, pharmaceutical companies are focused on approving and launching the drug and diagnostic test simultaneously. However, there is not enough attention paid to anticipating and accounting for issues that are hindering adoption of the diagnostic test in the long-term, such as poor sample quality or extended turnaround times, according to research cited in the report.

Other research has shown that patients often do not receive a targeted drug because diagnostic test results do not come back on time or personalized biomarker information was not properly documented into electronic medical records. Thus, physicians may be inclined to avoid prescribing targeted drugs and instead offer chemotherapy or newer immunotherapy options.

Moving forward, it is imperative for the pharmaceutical companies—not only for their own benefit, but for the benefit of the patients as well— to continue working closely with diagnostic companies and seek partnerships with labs and organizations that will aid in diagnostic quality, authors concluded in the report.—Zachary Bessette