In the dozen years since the sequencing of the human genome, the pace of innovation in genetic testing has exploded. We are now able to screen, diagnose, and monitor numerous medical conditions based on insights gleaned from lab tests based on genetic markers identifiable in a blood specimen. For many patients, these diagnostic advances have helped to deliver significantly better care and outcomes than would have been possible a few short years ago.
With this fast rate of advance in gene-based knowledge and innovation, scientists and the medical community must make decisions within a more dynamic—yet ambiguous—environment than ever before. 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. (As of the summer of 2015, several health plans had adopted NIPS into their policies for average-risk as well as high-risk pregnancies.)
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