Growing numbers of families in the developing world are beginning to benefit from new "noninvasive" prenatal tests that enable them to learn more quickly and accurately whether their unborn child has a severe genetic defect. As the tests become more common, however, they are also posing some difficult new ethical and practical concerns.
Subhashini Chandrasekharan, a research assistant professor who teaches global health and genomics at Duke, says the challenges range from inequitable access and stigmas against disabilities to increased abortions of fetuses identified by the tests as being female. "These are issues that require immediate attention as noninvasive prenatal tests become available globally," she writes in the April 9 edition of Science Translational Medicine with Duke postdoctoral associates Mollie Minear and Megan Allyse, and Duke undergraduate Anthony Hung.
The authors are part of a Bass Connections team which has brought together two faculty, two post-docs and four undergrads to study the situation. With travel awards from the Duke Global Health Institute, several team members will visit Hong Kong and India this summer to learn more from medical providers, families and others.
The new tests, which analyze fetal DNA circulating in the mother's blood, can detect Down syndrome and other genetic abnormalities. Already available in United States and Western Europe, the tests are now spreading to other parts of the world. Requiring only a blood sample from the mother, they offer a promising alternative to invasive diagnostic procedures performed by trained medical personnel, especially in regions where medical resources are limited.
Since many developing countries are already struggling to deal with reproductive technologies such as preimplantation genetic diagnosis and in vitro fertilization, it isn't clear how they will incorporate these new tests into their regulatory structures, the authors note. In China and India, for instance, it is illegal for parents to receive information about fetal sex, but some evade the law by using methods such as urine or saliva testing that are marketed directly to consumers. If parents can send samples internationally to places where the law does not apply, "the ability of governments to control access to prenatal sex information is likely to be compromised even further," they write.
Cost is also an issue since the tests are expensive and generally not covered by insurance. Still another gap is the lack of genetic counseling services in many countries, where cultural and social norms complicate how families make reproductive decisions and sometimes "render families vulnerable to targeting by unethical or fraudulent 'providers' and financial exploitation," according to the authors.
"It is in the best interests of everyone -- patients, providers, regulators and states -- to consider these issues and begin a dialogue as soon as possible," they conclude.