Noninvasive Prenatal Diagnostics: How Much Closer to Reality?
Whether the astonishing missteps by Sequenom, which earlier this year disclosed it could not support its data for a non-invasive Down Syndrome test, were merely poor management or a reality check for the field of non-invasive prenatal disgnostics, the NIPD opportunity is compelling. But the profession also understandably balks at obtaining information that is not then clinically actionable -- an issue that could further amplify in importance as technologies like microarrays and direct DNA sequencing increase become more prevalent.
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The recent launch of several noninvasive gene-based tests for Down syndrome and other fetal chromosomal abnormalities is poised to upend current prenatal screening practices and potentially usher in a new, multibillion-dollar market opportunity in the process. These new tests employ next-generation gene sequencing, along with advanced, risk-based computer algorithms, to detect and characterize fetal genetic abnormalities using the DNA present in a maternal blood sample. And because they are actually able to “interrogate” the DNA, they represent a huge technological advance over the current standard-of-care for prenatal screening.
Mass General has signed a $30 million deal with two units of J&J to develop a new system for capturing and analyzing circulating tumor cells (CTCs). The collaboration aims to develop a standardized diagnostic platform for biomarker analysis of DNA, RNA, or protein from tumor cells collected noninvasively. J&J will take the indications for its current CTC system, CellSearch, and migrate them to the new platform.
Evidence of progress for molecular diagnostics and instrumentation, the mainstays of the personalized medicine toolkit, was considerable in 2010. Much of the activity centered on sequencing, although its general utility in clinical diagnostics has not yet been demonstrated and whether measurements of gene expression can form the basis for a plethora of molecular tests also remains an open question. In abbreviated form, we list some of the important dealmaking activities and trends of the year.