Non-Invasive Prenatal Genetic Testing in the Developing World: Ethical, Legal, Social, and Practical Challenges
Companies have recently started marketing NIPT in low- and middle-income countries (LMICs). On one hand, the ease of using NIPT may reduce the need for trained medical personnel to perform invasive procedures, potentially making prenatal genetic testing more accessible in LMICs. On the other, the current generation of NIPT tests requires advanced DNA sequencing and bioinformatics capacities, which may put this technology out of reach for many countries. Furthermore, implementation of NIPT in LMICs raises many ethical, social, and legal questions:
- How will the reporting of fetal sex and sex chromosome aneuploidies be handled in countries like India and China, where termination of female fetuses is an illegal, but common practice?
- How will national laws about termination of pregnancy and use of reproductive technologies impact implementation?
- How will shortages of trained geneticists and genetic counselors, who are needed to accurately interpret test results, affect patients’ abilities to make informed decisions?
- Will NIPT increase disparities in prenatal care, when infrastructure challenges already create unequal access to basic prenatal care in LMICs?
- How will technological advances enabling detection of single gene disorders or whole genome sequencing be translated into practice in developing countries?
We have formed an interdisciplinary team of researchers with expertise in genetics, bioethics, public policy, and maternal fetal medicine. Teams of students, postdoctoral fellows, and faculty will focus on one or more of these questions and select two countries to be studied in depth for implementation challenges.