Genome-Based Diagnostics Clarifying Pathways to Clinical Use: Workshop Summary (2012) / Chapter Skim
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3 Test Developers
3 Test Developers
Pages 17-28
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From page 17... ...
Four speakers at the workshop addressed the development of genomic diagnostic tests from the perspective of test developers. All pointed to the need to develop better evidence regarding the value of a test, which in turn can affect coverage and reimbursement.
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From page 18... ...
In addition to providing clinical services using both laboratory developed and FDA approved tests, Quest develops LDTs under CLIA requirements and commercializes in vitro diagnostic kits under FDA oversight. Quest also provides genetic counseling services for physicians, works closely with major pharmaceutical companies to facilitate the introduction of new therapeutics and companion diagnostics, provides electronic health records for health plans and patients, and even has a smart phone app that allows patients to receive their own test results.
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From page 19... ...
For example, with infectious diseases, mutations occur at a rapid pace, which infectious disease specialists use to track and treat disease. In such cases, if companies were required to go through an FDA submission process, by the time approval is gained, the product would no longer be useful.
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From page 20... ...
"A lot of the literature that is currently around on validation of genomic tests doesn't include all the independent steps, and independent review, as we've learned over the years, is very crucial." A second opportunity for improved efficiency lies in quality control. Quality assessment for clinical trials involves a number of technical features, including precision, reproducibility, repeatability, accuracy, sensitiv
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From page 21... ...
Some metrics -- what they should look at -- should be established." In cases of local hospital trials, where broader oversight is not available, entities should be established to review genomic tests for clinical trials. Meanwhile, FDA oversight of in vitro diagnostic tests "is working," according to van ‘t Veer.
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From page 22... ...
I would say that it's been just as successful using the system in breast cancer and bladder cancer." However, the system needs refinements if test developers are to remain strong in the United States and continue to provide high-paying jobs for researchers, drug developers, and state-of-the-art manufacturing personnel. In the European Union, the IVD Medical Devices Directive allows most products to be introduced into the market through the self-declaration of a compliance process with standards issued by the International Organization for Standardization.
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From page 23... ...
, yet it is often still treated with products of limited clinical utility and a one-size-fits-all approach, said Steven Shak of Genomic Health. As a result, "we punish the many to benefit the few." For example, the classic B-20 study of the National Surgical Adjuvant Breast and Bowel Project, which looked at chemotherapy plus tamoxifen versus tamoxifen alone in the treatment of patients with auxiliary lymph node–negative, estrogen receptor–positive breast cancer, showed that only 4 out of every 100 women benefit from chemotherapy (Figure 3-1)
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From page 24... ...
has saved tens of thousands of lives, but other tests linked to biologic therapies have not emerged from clinical evaluation, said Shak. Oncotype DX Genomic Health initiated an effort in 2000 to develop and commercial ize molecular diagnostic tests that would empower cancer patients and their physicians to be able to select the right treatment based on the underlying biology and on reliable evidence of clinical utility.
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From page 25... ...
"The short version of this is that you need to bring the rigor of drug development to the development of diagnostics, but also fit for purpose," said Shak. Shak laid out a roadmap to establish clinical utility that consists of the following steps: • Definition of purpose • Technical feasibility • Development studies • Analytical methods finalization • Analytical methods finalization and validation • Clinical validation studies, including comparative effectiveness • Treatment decision studies • Health economic analysis Shak pointed out that diagnostics can have a major impact on treatment decisions.
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From page 26... ...
"An inspector can come into the Genomic Health [laboratory] -- and we've had 10 inspections -- and say, ‘On March 7 we want you to look at the tenth test that you did that day and then pull out the quality control metrics for every reagent that was used in that particular case.' We monitor that and can do that." The third and final principle Shak listed is that the development of diagnostic tests requires collaborations, clinical research funding, and the skills, processes, resources, and incentives to do it right.
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From page 27... ...
27 TEST DEVELOPERS Shak concluded by observing that his company has been working in recent years on next-generation sequencing technologies that have made it possible to investigate not just candidate genes but the entire transcriptome. "I never would have dreamed in my lifetime that it's now possible to see .
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