Molecular Diagnostics Ushers In New Era Of Prenatal Testing

Article preview from Medtech Insight - September, 2012

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.

 Molecular Diagnostics Ushers In New Era Of Prenatal Testing

Article preview from Medtech Insight - September, 2012

Ongoing advances in molecular diagnostics and gene-sequencing technology are poised to fundamentally change the way a variety of diseases and disorders are diagnosed and managed, and one of the first clinical areas likely to feel the full impact of these changes could be the prenatal testing arena. (Also see "In Vitro Diagnostics: The Quest for Growth" — Medtech Insight, October 2010 and "Utility Before Profitability: The Evolving Evidence Paradigm For Molecular Diagnostics" — IN VIVO, September 2012.)

In the late 1990s, researchers first discovered that fragments of cell-free DNA (cfDNA) from a developing fetus could be found in the mother’s blood early in pregnancy. This set off a flurry of activity among both academic researchers and commercial entities aimed at developing highly accurate blood-based prenatal tests capable of screening these cfDNA fragments for common fetal chromosomal abnormalities, such as the one that causes Down syndrome. That work finally came to fruition late last year when the first such test was launched commercially in the US. Since then, two others have been introduced and a fourth could be available before the end of this year. This sudden influx of DNA-based noninvasive prenatal testing (NIPT) is poised to upend current prenatal screening practices and it could usher in a new, multibillion-dollar market opportunity in the process.

NIPT employs 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 these new tests are actually able to “interrogate” the DNA, they represent a huge technological advance over the current standard-of-care for prenatal screening.

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