ABSTRACT: Researchers recently sequenced a fetal genome from cell-free fetal DNA in a pregnant woman’s blood. The ability to perform whole-genome sequencing in the first trimester adds complexity to decisions about prenatal testing. Expectant parents may obtain genetic information about the risk for childhood diseases and about carrier status for autosomal recessive disorders, the risk for complex adult-onset diseases, the presence of genes causing adult-onset autosomal dominant diseases, and the likelihood of certain traits.
Ethical and policy questions become a concern as to whether women should be offered prenatal whole-genome sequencing and whether parents should have access to all genetic information of the fetus. Current genetic screening of children is based on providing direct medical benefit to the child. Access to other types of genetic information is based on the perception of overriding harms to the child, including the psychological burden of information on parents and children, damage to self-esteem, alteration of a family’s view of the child, stigmatization, and discrimination. Generally, the approach to interventions without an imminent medical benefit has been cautious, with emphasis on respecting a child’s rights not to know and to decide later in life whether to obtain genetic information.
With recent diagnostic advances, conversations now center on broadening screening criteria. In 2005, the American College of Medical Genetics indicated that therapeutic intervention for the child is the primary justification for screening, but this could be defined more broadly than immediate treatment. Examples included intellectual disability, results pinpointing a genetic risk to relatives or future offspring, or data on the incidence and natural history of genetic conditions and the effects of intervention. In 2008, the President’s Council on Bioethics recommended mandatory newborn screening adhering to classic criteria for the direct medical benefit of the child and offering additional genetic findings to parents who sought them in a research context. In 2013, a policy statement from the American College of Medical Genetics–American Academy of Pediatrics reaffirmed that screening decisions should be made on the basis of the child’s best interest. A family benefit as a justification for genetic screening remains controversial.
Parents who want their fetus’s genetic information should be able to have it after they undergo genetic counseling. This option is a basic right of reproductive choice and parental autonomy, even if parents choose an option that is not best for the child. Although knowledge of risks can reasonably assist in making reproductive decisions and help parents prepare for a child’s future, whether these benefits will be realized is uncertain. The need for accurate information should be an impetus for increasing the numbers of genetic counselors to guide parents through the maze of decisions. Research must be conducted to obtain the families’ perspectives and experiences as they obtain genetic information, always being attentive to the challenges while ensuring parents’ freedom to choose, prepare, and be informed about their fetus’s risk for disease.