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Peering into the human genome is akin to seeking to unravel the depths of the universe. With every new discovery come new questions—and uncertainties. How do we interpret a new piece of genetic information for clinicians? Can we ensure insights into a genetic mutation are actionable for our patients? Genetic advances are fascinating, but they may not always be helpful to delivering better care or outcomes.
Case in point: noninvasive prenatal screening (NIPS), a field that has experienced rapid growth in the recent years. New screening technologies can help identify a pregnancy affected by an aneuploidy through assessment of cell-free fetal DNA (cfDNA) circulating in the maternal blood stream. Utilization of NIPS is growing, with the market estimated to be $750 million for high-risk pregnancies and up to $3.25 billion when use of NIPS is recommended in medical guidelines for average-risk pregnancies.
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NIPS has enormous potential clinical value, as it may help more women avoid amniocentisis or chorionic villus sampling (CVS), which are invasive procedures that involve a small risk of miscarriage. Yet, the speed at which NIPS has been adopted into mainstream medical care has greatly outpaced the knowledge that women and even some physicians have about the limitations of these tests and how to interpret results.
Read full, original post: Noninvasive Prenatal Screening
