How should we deal with the arrival of very common prenatal testing for a broad set of genetic characteristics?
This commentary in the Genomics Law Report’s ongoing series What ELSI is New? is contributed by Hank Greely, Stanford University.
Each year, about 60,000 pregnant women undergo prenatal genetic testing in the United States, out of more than 4.2 million live births. Within five years, new testing methods, made possible by the rise of cheap forms of genomic analysis, will be able to test cell-free fetal DNA from the pregnant woman’s blood. These tests, feasible as early as the fifth week of pregnancy, will require a simple 10 milliliter blood draw, avoiding the invasive procedures of amniocentesis or chorionic villi sampling, with their attendant high costs, discomfort, and miscarriage risks.
Cell-free fetal DNA testing will be able to reveal aneuoploidies, single gene diseases, broad disease risks, and some non-disease traits: certainly sex and probably skin, eye, and hair color; hair type; likely height; and male pattern baldness, among others. The price of this analysis should be $1000 or less. At that price, insurers will likely find this testing cost-effective for every pregnancy, not just high-risk pregnancies. Safe, early, comfortable, broad, and fully insured fetal genetic testing is likely to be used by far more than the current 1.5 percent of pregnant women – probably fifty to eighty percent. As a result, abortions for serious genetic conditions will increase substantially and children born with such conditions are likely to be concentrated in populations particularly opposed to genetic testing or abortion.
How should our society react? Should we encourage, discourage, or view as neutral this kind of testing? What kind of quality regulation should we impose on this testing? Should we – can we – impose other, non-quality regulation, aimed either at preventing prospective parents from terminating pregnancies based on some genetic characteristics or at preventing testing (or communication of test results) for some kinds of genetic risks? We all will soon have to answer these questions, but we are only beginning to pose them.
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I’d be interested to know why you think 50-80% of women will be tested?
And what is the basis for the conclusion that insurance will pay $1000 for testing?
You must be new to this subject. Genetic testing for chromosome abnormalities and single gene disorders has been around for many, many years. Why the sudden concern about eugenics? This is nothing more than a methodology change.
“This is nothing more than a methodology change.” Yes, and printing (and the internet) are nothing more than a methodology change from cuneiform tablets (writing is writing). Jet planes are nothing more than a methodology change from ox carts, but try taking one of those to Asia. Technology changes society not so much by changing what it is done but by changing how easily, quickly, and cheaply it is done, leading to people doing a lot more of it. This – if it happens, which I expect but cannot guarantee – will be no exception.
Let’s start with insurers. First, it may well be viewed as “generally accepted” and hence covered as a result of contract language. But, more fundamentally, it should save insurers money. Testing 1,000 women at $1,000 each would cost $1,000,000. If that led to the prevention of the births of 5 babies with serious genetic problems, the insurers would benefit if the babies’ health care costs (net of the abortion) exceeded $200,000 each. Between short-lived but intensively ill children and longer lived but chronically ill children (consider, for example, the need for heart surgery in many Down syndrome children), that seems plausible – and 5/1,000 is a fairly conservative estimate.
So, why do I estimate a 50 – 80% testing rate? This method takes only a blood draw – it doesn’t require an intrusive, unpleasant, expensive and somewhat risky test, like amniocentesis or chorionic villi sampling. Note that the miscarriage risks of these tests have meant that OBs have not recommended them to many pregnant women and insurers have not covered them without a recommendation. It will be, I expect, insured (with a big question mark about state medicaid programs, which pay for a very large percentage of US births). It is likely to become the legal standard of care for an OB to at least offer it. Consider the wrongful birth lawsuits when parents have a severely disabled child who they say they would have terminated had they known about the risk but the OB didn’t offer the test. And about 80% or more of women in California do the screening tests for Down syndrome and neural tube defects.
I did not say that I am concerned about parental choices of genetic traits for their children. I said our society will need to decide how it will react and that we are not yet thinking about it. We need to.
Oh, and I’ve actually been working in this area for nearly 20 years. How about you?