Sangharsh Lohakare

Photo by Sangharsh Lohakare on Unsplash

Ten years ago the potential for prenatal DNA sequencing was big news. New technology allowed for fetal DNA to be screened or sequenced from traces found in the mother’s blood. Previously, fetal cells had to be collected from the placenta or amniotic fluid – a more difficult and riskier task. This fetal DNA testing technology reignited concerns about genetic testing, designing babies, and genetic determinism. As Voices author Gabriella Foe discussed, these issues included concerns about discrimination against the fetus, the inability of a fetus to consent to testing, and parental control over a child’s genetic future. Since then, technological and scientific advances have increased and ethical quandaries (unsurprisingly) abounded.

Despite the technology being over a decade old, routine fetal DNA sequencing is not occurring. DNA sequencing is not common for newborns in the US, instead generally only occurring for the critically ill. However, there are controversial efforts across the globe to make newborn DNA sequencing routine. Even without full genome sequencing, termination of fetuses for genetic aberrations certainly occurs.

Accurate and current data on abortion due to screening results is difficult to find for the US. But in Denmark, for example, about 95% of parents choose to abort fetuses that test positive for Down syndrome. Denmark has universal prenatal screening for Down syndrome. On average, only 0-13 pregnancies in the country are continued each year after prenatal diagnosis. Down syndrome is only part of the picture, as there are many conditions of varying severity that can be screened for. But in 2023, we are still only screening for disease potential. Screening for non-disease related traits is still a matter of science fiction.

In the US, the legality of choosing abortion due to fetal DNA sequencing or screening is in flux. In 2022, the US Supreme Court removed federal abortion protection in Dobbs v. Jackson Women’s Health Organization. Since then, varied anti-abortion legislation has limited legal abortion access in many states while abortion access issues and their consequences grow.

Another technical development related to fetal genetics is the rise of CRISPR-Cas9 and other gene editing technologies (another “step closer to Gattaca?”). In the past 10 years, significant technological breakthroughs and ethical problems have occured. One profoundly unethical event was perpetrated by a scientist in China, He Jiankui. He used CRISPR-Cas9 to edit the DNA of several embryos and used those embryos to impregnate women. Three babies were born as a result. The experiments were technically flawed and ethically reprehensible. He was imprisoned for his violations of Chinese regulations and ethical principles but was recently released and has started a new laboratory.

His experimentations were a poor beginning for embryonic gene editing. However, gene editing technologies have an interesting relationship to fetal DNA sequencing technologies. They suggest a way to make the results of DNA sequencing actionable beyond just termination of a pregnancy. Many of the diseases that are currently screened for are serious or fatal and have no cure which gives parents few options. Could gene therapies someday provide a way for parents to fix a genetic problem rather than having to choose between abortion or carrying a dangerous pregnancy to term?  A gene editing fix for a lethal disease may seem easily ethical (provided the technology is safe and effective). But for other conditions, like Down syndrome, the ethical analysis is complicated and raises questions of whether a specific genetic “aberration” must or should be “fixed.” Other issues, like the inability of a fetus to consent to gene sequencing or whether genetic counseling prior to pregnancy is a better use of resources, remain.

So where does this leave us in 2023? We are faced with more technological developments, another 10 years of ethical debate and analysis, and large societal questions on whether to edit our genetic future. But we also have a stark reminder, in the form of He Jiankui, that all the ethical guidelines and governmental regulations in the world cannot completely prevent profound ethical transgressions. Creating standards for the responsible use of these technologies is certainly a worthwhile pursuit. We also must give attention to the less savory job – deciding what to do when people fail to meet those standards.

The posts on this anniversary blog are non-peer-reviewed expressions of staff opinions on how the ethical discourse surrounding the selected issues has changed. Voices in Bioethics makes no representation of these opinions.