by Jeffrey Kahn and Gail Geller

Prenatal genetic testing has always been associated with a number of ethical issues.  They arise from tensions between the benefits and harms – both real and perceived – of the testing procedures themselves, the implications of test results for reproductive decision-making, and the impact of reproductive decisions on individuals, families and society.  Now, a new noninvasive prenatal procedure, detailed in the journal Science Translational Medicine and covered in the New York Times, is set to decrease risk but increase debate.


For the first time, a fetus’ genome has been determined using only a blood sample from the mother and saliva sample from the father – both safe, noninvasive procedures that produce a ‘DNA blueprint’ months before birth.


Previously, tests that screen maternal blood for markers of fetal abnormality have been associated with high false-positive rates, often leading to expensive and anxiety-producing follow-up testing.  More accurate diagnostic tests, such as amniocentesis, pose a small, but not insignificant, risk of miscarriage.  And if a serious abnormality is detected through amniocentesis, often there is nothing that can be done to improve the outcome of the pregnancy other than to terminate the pregnancy or prepare for the birth of a child with a disability.


This new technology represents a potentially significant advance in our ability to determine the genetic makeup of a fetus fairly early in the pregnancy without the need for invasive tests.  In addition to avoiding invasive techniques, it offers full sequence of the entire genome of the developing fetus, meaning rather than testing for particular traits or mutation, the entire genome will be known.  However, it presents many of the ethical and social risks associated with existing methods of prenatal genetic testing, and may even exacerbate them.


Perhaps most important and controversial, this test could be used to provide information about a full range of physical, social and behavioral characteristics, increasing the pressure for parents to learn all they can about their future children’s traits and avoid giving birth to children who have (in their mind) “undesirable” ones.  For many, this invokes the specter of a sort of personalized eugenics, with parents selecting (or avoiding) a range of physical or behavioral traits limited only by the quality of scientific information available.


Adding to these concerns is the very high false-positive rate for identifying mutations, leading to likely misinformation for prospective parents. Also, the current cost of the test is prohibitive, at $20,000 per test, meaning that only the very rich would have access to it.  While it is clear that the noninvasive full genome sequencing is not quite ready for prime time, it foretells the availability of a technology that could fundamentally alter the information available to prospective parents.  As the quality and affordability of the testing technology improves, our society must be ready to address the ethical and social issues that will come along with it.

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Gail Geller
Jeffrey Kahn

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