Expert review of molecular diagnostics
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Expert Rev. Mol. Diagn. · Jan 2016
EditorialCompanion diagnostic assays for PD-1/PD-L1 checkpoint inhibitors in NSCLC.
The immune checkpoint inhibitors pembrolizumab and nivolumab together with their diagnostic assays have recently been granted market authorization for treatment of advanced non-small-cell lung cancer in the USA. The two assays, PD-L1 IHC 22C3 pharmDx and PD-L1 IHC 28-8 pharmDx (both by Dako, Glostrup, Denmark), are the first PD-L1 IHC assays to obtain regulatory approval through the Premarket Approval process. ⋯ These diagnostic assays are able to identify the group of non-small-cell lung cancer patients who will benefit most from treatment with the immune checkpoint inhibitors. However, so far, it is only the PD-L1 IHC 22C3 pharmDx assay, which is linked to the use of pembrolizumab, that has obtained regulatory status as a companion diagnostic.
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Expert Rev. Mol. Diagn. · Jun 2015
ReviewRecent advances of microRNA-based molecular diagnostics to reduce false-positive lung cancer imaging.
Lung cancer is the leading cause of cancer deaths in the world. Advances in early detection crucial to enable timely curative surgery have been made in recent years. ⋯ MicroRNA are a new class of blood-based biomarkers useful for early lung cancer detection and prognosis definition. Here, we discuss the seminal publications that reported circulating microRNA signatures with the greatest potential to impact clinical activity and patient care.
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Expert Rev. Mol. Diagn. · Mar 2015
ReviewGenetic diagnosis and prognosis of Alzheimer's disease: challenges and opportunities.
Alzheimer's disease (AD), the most common form of dementia in western societies, is a pathologically and clinically heterogeneous disease with a strong genetic component. The recent advances in high-throughput genome technologies allowing for the rapid analysis of millions of polymorphisms in thousands of subjects has significantly advanced our understanding of the genomic underpinnings of AD susceptibility. During the last 5 years, genome-wide association and whole-exome- and whole-genome sequencing studies have mapped more than 20 disease-associated loci, providing insights into the molecular pathways involved in AD pathogenesis and hinting at potential novel therapeutic targets. This review article summarizes the challenges and opportunities of when using genomic information for the diagnosis and prognosis of AD.
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Expert Rev. Mol. Diagn. · Jan 2015
ReviewExhaled breath analysis by electronic nose in respiratory diseases.
Breath analysis via electronic nose is a technique oriented around volatile organic compound (VOC) profiling in exhaled breath for diagnostic and prognostic purposes. This approach, when supported by methodologies for VOC identification, has been often referred to as metabolomics or breathomics. Although breath analysis may have a substantial impact on clinical practice, as it may allow early diagnosis and large-scale screening strategies while being noninvasive and inexpensive, some technical and methodological limitations must be solved, together with crucial interpretative issues. By integrating a review of the currently available literature with more speculative arguments about the potential interpretation and application of VOC analysis, the authors aim to provide an overview of the main relevant aspects of this promising field of research.
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Expert Rev. Mol. Diagn. · Jan 2015
Editorial ReviewLyme disease: diagnostic issues and controversies.
The diagnosis of Lyme disease is a controversial topic. Most practitioners and scientists recognize that Lyme disease is associated with certain objective clinical manifestations supported by laboratory evidence of infection with Borrelia burgdorferi sensu lato (the etiologic agent). There are others, however, who believe that patients with Lyme disease may have a wide variety of entirely nonspecific symptoms without any objective clinical manifestation and that laboratory evidence of infection by B. burgdorferi is not required to support the diagnosis. ⋯ Although those espousing this viewpoint do not believe that a positive laboratory test is required, nevertheless, they often seek out and promote alternative, unapproved testing methods that frequently provide false-positive results to justify their diagnosis. Herein, we provide a brief overview of Lyme disease testing, emphasizing current usage and limitations. We also discuss the use of nonvalidated procedures and the prospects for a reduction in such testing practices in the future.