The Corner

Testing Ourselves: Researchers Simplify Prenatal Genetic Scans

Consider for a moment any random collection of 20 people of your acquaintance. Include your banker. The captain of your high-school football team. The mentally ill veteran on the street corner who accepts a quarter from you twice a week. The perpetually smiling vendor in a wheelchair at the Metro stop who sells you candy for a dollar. The lawyer representing the automobile-insurance company suing you for damages in a recent accident. The student activist who thrust a flyer into your hand on Earth Day.

Now rank these people in order of their inherent superiority and contribution to humanity. If it seems an impossible task not delegated to the human mind or human hands, it is becoming ever clearer that the temptation to rank, to score, and to impose cut-offs on entry into the human community is mounting. This week researchers at the University of Washington have published results in the journal Science Translational Medicine demonstrating the ability to identify inherited genetic diseases and new mutations in the unborn using only maternal blood and paternal saliva. 

The new testing capacity is extraordinarily expensive — $20,000 to $50,000 per sequencing — but, like the price of computer memory — it is likely to drop rapidly. According to some commentators, commercially feasible testing could be affordable in three to five years. We are not quite at the point where expectant parents will stroll up to a testing booth seeking a DNA scan like Uma Thurman’s character in Gattaca, but we are getting closer.

The speed with which this testing advances will, ironically, draw upon the fact that it is initially beneficent to at least some of the developing babies that will be tested. Today’s most prevalent methods for genetic testing of the unborn, e.g., chorionic villus sampling (CVS), are by an invasive method with risk of fetal loss. Movement to a test that involves taking parental blood and saliva samples that look for and compare that DNA with fetal DNA fragments in the mother’s blood will initially spare the lives of some children not subjected to CVS or amniocentesis. But given the thoroughness of the sequencing (allowing the identification of some 3,000 genetic diseases that affect roughly 1 percent of pregnancies), the new process may expose others, perhaps many more, to abortion.

#more#The presence or mere propensity for disease, of course, will not be the only information rendered available by such testing. Sex, eye and hair color, athletic ability, and countless other characteristics will be, to some degree, ascertainable through such means. In the 20th century the movements for negative and positive eugenics operated on the basis of generalized and typically false criteria — bias and ignorance, in short; the science of genome sequencing is more exact, and therefore more exploitable by societal forces that urge the early elimination of those with certain diseases as a cost-saving alternative to researching and curing diseases themselves. 

The recent history of Down-syndrome research and testing is instructive. While estimates vary, all are agreed that the vast majority of children diagnosed prenatally with this illness in the United States are aborted — perhaps 90 percent or more. At the same time, and with much less fanfare, continuing (but radically underfunded) research and the devotion of parents who have borne Down’s children and raised them with love, have resulted in longer lifespans and expansion of the horizons of hope for these men and women. In 2011, as the Jerome LeJeune Foundation reports, the first clinical trial of a therapeutic modality for Trisomy 21 was launched. Already there are five trials underway. We need many more.

The amassing of knowledge about the genome and its operations is irresistible and ultimately, in an ethically wise universe, of immense potential benefit. Science is not the problem. Ironically, abortion, which removes the illness by destroying the one who carries it, is a science-antagonist. All diseases could be handled this way, and from such measures we learn next to nothing. Real science is done when illness is combated, resisted, and overcome.

It is unfortunate that gains in knowledge are coming in an era where disrespect for human life is rampant and fears about growing expenditures for health care are rising. But it is fortunate in turn that we are more alert to the dangers of using genetic information against individuals. The Genetic Information Nondiscrimination Act of 2008, championed by then-senators Sam Brownback and the late Ted Kennedy, erected the first bulwark against the kind of raw cost-benefit calculus and discrimination that would have inevitably occurred against individuals and families in this context.

Such laws are a start, and perhaps they will, with greater awareness, assist in ameliorating the kind of internalized eugenics that tempts us to believe that only a life without disability is worth living. Or even that all of us are not, in some manner, disabled.

— Charles A. Donovan is president of the Susan B. Anthony List Education Fund.

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