Prenatal Genetic Testing Raises Ethical Questions
Paul A. Lombardo, Regents’ Professor and Bobby Lee Cook Professor of Law, is a lawyer/historian who served from 2011 to 2016 as a senior advisor to the Presidential Commission for the Study of Bioethical Issues. He has published extensively on topics in health law, medicolegal history and bioethics and is best known for his work on the legal history of the American eugenics movement.
You are part of a National Institute of Health grant to study the implications of technology that allows for early, noninvasive prenatal genetic diagnosis. Tell us more.
A new type of prenatal testing was introduced several years ago that only requires a blood sample from the mother, and it can be administered as early as eight weeks gestation. It’s much less intrusive and costs less than previous tests and, as technology advances, eventually may be used to perform whole genome analysis.
The Hastings Center was given the grant to assemble a group of people — about 25 scientists, genetic counselors, physicians, obstetricians, anthropologists and others — to find out how the technology is being used now, consider the ethical implications and advise how it should be regulated, whether federally or through medical standard–setting organizations.
I was asked to be on the committee as a lawyer and as a historian because of my research in eugenics. They wanted to start out with a clear perspective on the ways in which we failed ethically in the past when questions of genetic diagnosis came up. This new technology raises questions about selecting, for or against, very specific embryos. I was asked to give an analysis of what parallels there may be in our history and how they might inform the current discussion.
What are some of those parallels?
In the past, we used what we thought were good technologies to exclude people, whether it was using IQ tests to exclude immigrants, or using tests of ethnicity to exclude people from civil society, or excluding people with disabilities both by institutionalizing them or preventing them from having children through sterilization. It’s the specter of that kind of negative use of technologies that this committee wanted some insight into.
What are some of the ethical questions?
Should the testing be available to everyone for any trait or condition, or only to certain people to screen for very specific diseases? Should it be for profit? The concern is that for-profit businesses have already made it available to detect gender. So, if someone gets tested and says, “I want to have a boy, not a girl,” do you say OK? Is sex selection something that we are going to endorse or not?
It also raises all sorts of questions about disabilities. Should those administering the tests be allowed to find anything the consumers want — for example, if they are carrying a baby with Down Syndrome or some other trait, like a heart defect or propensity to disease? There are 4,000 to 5,000 single genes that are identifiable using prenatal diagnosis. Who gets that information, and what can they do with it?
It’s the kind of problem that could pit technology against the value systems that people bring to the table when they have children. It requires you to think about those value systems and whether or not the science is doing what it promises to do — are the tests even accurate?
So far, there are no cures for most of the conditions you can test for genetically. So, if the test is positive, do you terminate the pregnancy? If that’s not an option, what are you going to do with the information?
In some cases, the information can be useful. There are nutritional choices and early interventions a person can make during pregnancy and when the child is born that may help the condition. But most people don’t use the tests for those purposes. People often do prenatal screening to get information about whether to continue a pregnancy. So, the disability rights community has raised serious questions, and it’s an area where there is a tremendous amount of contention.
Are the tests accurate?
They aren’t perfect; there can be false positives or false negatives. In some cases, a test is accurate in telling you what the genetic makeup of the fetus is, but we have no idea the likelihood of how specific genes will be expressed. Will the disease or condition you fear happen at all? Will it happen at age 15 or 50? is uncertainty about prediction raises other ethical questions. Are you putting yourself in a compromising position by having the test when you don’t know what you’ll do with the results?
How widespread is the use of this technology currently?
A number of for-pro t laboratories do the testing, as well as some research institutions and major hospitals and science centers.
The study will continue for another year, and then we will release a series of recommendations to policy makers and to the scientific and medical communities.