Difficult Decisions

Prenatal genetic testing spurs laws to provide information during pregnancy on Down syndrome.

There is a lot of excitement about genetic testing in the media these days. The marketing of direct-to-consumer testing is at a fever pitch. The Food and Drug Administration (FDA) has already begun approving some consumer-initiated genetic testing. Lots of people are eager to get their genome mapped so they can see which genetic risks they face and devise a strategy to manage them.

Some believe that direct-to-consumer genetic testing ought to be encouraged so that everyone can understand the role genes play in his or her health. If you are an educated, well-insured young adult who is good at managing major health risks through a prudent lifestyle, that enthusiasm might be justified. But that kind of unfettered excitement is unjustified for those who smoke, overeat, drink too much, abuse drugs, drive recklessly, forgo vaccinations, engage in risky sex, and don’t exercise. Those people are in need of a lifestyle overhaul — not genetic testing for secondary risks.

Still, there is another, less-hyped area of life where genetic testing will likely soon explode into widespread use — and that’s in reproduction. For all the attention being paid to testing for risk factors in adults, new technology makes it nearly certain that fetuses and their parents will soon be at the vortex of genetic testing. And that is going to lead to enormous ethical and legal controversies.

A friend of mine has been trying to have a child for many years. She is 38 and single. She is not interested in adoption, and she does not want to remain childless. According to the experts at the clinic she has been going to, her fertility is in rapid decline. So, not too long ago, using donor sperm, she got pregnant. She was thrilled, but she knew that as an older mom she faced a higher chance of having a child with Down syndrome. She was not willing to bear a child with that genetic makeup.

She is hardly alone. In the U.S., between 60 and 90 percent of all pregnancies in which Down syndrome is diagnosed end in abortion. The number is as high or higher in the U.K.

Most doctors think that anyone over 35 should consider testing for Down syndrome, and despite the risks and burdens of current testing, many women do. This testing produces consequences.

My friend’s ultrasound showed a likelihood of Down syndrome, which was later confirmed by an amniocentesis she received 18 weeks into the pregnancy. The results of the test were slow in coming back. She had an abortion at 23 weeks, just on the edge of fetal viability. The experience left her distraught and mentally devastated. She can barely talk about what happened.

The horrible experience my friend went through will soon be a thing of the past. New technology uses a blood sample from an expectant mother to analyze small portions of fetal DNA that are present in the bloodstream to determine whether a fetus has Down syndrome. It can also provide information on other chromosomal traits, such as gender and the presence of an extra chromosome.

Cell-free testing is not yet approved by the FDA as a diagnostic test, but the results of a recent large, prospective, multicenter, blinded study demonstrated that cell-free DNA testing for risk assessment of Down syndrome outperformed current first trimester initial screening in the general pregnancy population. This means that testing will soon become more refined and more routine, not just for high-risk women but for all pregnant women. A test relying on a blood draw that can be done very early in pregnancy, as early as nine weeks, will be far less risky and burdensome for pregnant women. Late abortions could be greatly reduced. Indeed, the time is not far off when such testing is likely to become the standard of care for any pregnancy.

So, this is all good news, right? No, not entirely. There is a good deal of pushback these days against abortion as a moral response to Down syndrome. Some, like a Missouri state senator, are even hoping to ban abortions prompted by a diagnosis of Down syndrome, calling it discriminatory. That discomfort signals trouble for cell-free testing for Down syndrome and many other forms of genetic testing in the reproductive area.

Rates of abortion associated with a diagnosis of Down syndrome have been high for many decades. The recognition of this trend has led some families and supporters of people with Down syndrome to succeed in enacting the Down Syndrome Information Actin 14 states.

Pennsylvania’s version of this act, known as Chloe’s Law, was enacted in 2014.It is named after 12-year-old Chloe Kondrich, who has Down syndrome.
Chloe’s dad, Kurt, was horrified to learn that the vast majority of mothers choose abortion if they learn their fetus is at risk for Down syndrome. As a result, he pushed the Pennsylvania legislature to enact a law that requires the Department of Health to make available “up-to-date, evidence-based information about Down syndrome that has been reviewed by medical experts and national Down syndrome organizations,” including information on treatment options as well as “support services, hotlines specific to Down syndrome, relevant resource centers, clearinghouses, and national and local Down syndrome organizations.”

Legislation like Chloe’s Law overturns the long-standing foundational and ethical norm of genetic testing and counseling, which has been neutrality in the provision of information. Whether the high rate of abortion after diagnosis is due to a lack of information or a reflection of patient values is not clear. However, federal and state laws mandating that a positive spin about Down syndrome be provided to parents seeking testing opens the door to what is sure to become a very heated debate about the mandatory nature of counseling and its content. As genetic testing becomes easier and safer to do using cell-free fetal DNA testing, questions will arise about who should counsel and how they should counsel when it comes to describing disabilities and differences.

Chloe’s Law seeks to shift the default of genetic counseling on Down syndrome to a more pronatalist stance.

Chloe’s Law is hardly value neutral. It is deliberately positive about Down syndrome. It, and similar legislation enacted in other states, seeks to spin the message given by doctors and counselors about Down syndrome in a positive direction. Kids with Down syndrome may have issues, the law concedes, but medical advances, devoted parenting, and societal support can overcome them. The associations that helped create these laws are made up of parents who chose to have a child with Down syndrome, and they are eager to fight for resources, opportunities, and recognition for their children. They are also keen to share stories of the positive effect their children have had on their lives and on those around them.

Chloe’s Law seeks to shift the default of genetic counseling on Down syndrome to a more pronatalist stance. It is the first of what will certainly be other efforts to insist that those involved in genetic testing, screening, and counseling move away from nominal ethical neutrality to a more disability-friendly, accepting, and normative message.

As cell-free genetic testing expands, the counseling that accompanies it will not always be done by genetic counselors; there are simply too few of them. In addition, by using more advanced versions of this technique, more conditions, traits, and differences will become detectable, thereby opening the door to the question of who will say what and with what ethical valence about why certain conditions are being tested for, what a positive test result means, and what risk means in the context of deciding.

For those keen to see genetic testing expand, there are huge lessons from initiatives like Chloe’s Law. What is identified as a “risk,” who frames the message about test results, what constitutes a “fair” message, who gives the information and with what legal force are still to be determined. But genetic testing will not remain immune from broader social and political forces, especially when reproductive testing is likely to lead the way toward mass genetic testing.