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    The promise and peril of new prenatal diagnostic technologies



    The next new thing in cfDNA testing: A future fraught with promise and peril

    As the genetic disorders potentially diagnosed by cfDNA testing continue to expand—and the potential here is almost unlimited—our ethical, economic, and practice management challenges also increase substantially. The ability of such testing to detect the 70% of aneuploidies beyond the most common (ie, trisomies 21, 18, and 13 and sex chromosome number abnormalities), such as microdeletions and microduplications, already exists.2 Moreover, this technology can easily be leveraged to screen for relatively common single-gene defects such as achondroplasia. Thus, clinicians may soon be challenged by a myriad of screening offerings to present and explain to their patients. Does the couple want any prenatal diagnostic testing? If so, do they want just common trisomy and sex chromosome number screening? Do they also desire screening for microdeletions or microduplications – and should such testing include all such abnormalities or only those with clearly defined and severe phenotypes? Do they want all of these studies plus screening for known major single-gene defects, and if so, how many such disorders, and at what level of severity? How much will such testing cost? Who will pay—and will that cost be borne by health insurance and if not, what obligation do physicians, governments, and society have to ensure equitable access to such testing?

    If all this is not worrisome enough, eventually whole genomic sequencing and assessment of the fetal methylome via cfDNA testing will be practical. But should it be made available? Such exhaustive diagnostic capabilities raise profound ethical challenges ranging from their impact on human evolution to its potential to exacerbate class and wealth distinctions (see Aldous Huxley’s Brave New World). The time to initiate this discussion is now, not after we obstetricians are overwhelmed by patient demands for services, counseling, detailed explanations, and “failure to diagnose” lawsuits.


    Charles J. Lockwood, MD, MHCM
    Dr. Lockwood, Editor-in-Chief, is Dean of the Morsani College of Medicine and Senior Vice President of USF Health, University of South ...


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