Lauren is a first year medical student at Queen’s University in Canada, and was one of ten students accepted into the inaugural year of the Accelerated Route to Medical School program in 2013. She is passionate about scientific research and human rights, and hopes to incorporate global health into her future medical career.
In 2012, a profound advancement in the world of genetic screening was made that could change our approach to life for years to come. New painless, blood-based genetic screening tests are now possible and operate by detecting small amounts of fetal DNA found in the mother’s blood. Using the 3 to 10 percent of cell-free fetal DNA that can be found in the mother’s blood, the chances of the fetus being born with a variety of genetic disorders, such as Down’s syndrome, Tay-Sachs disease, and cystic fibrosis, can be calculated . Fetal genetic screening, comprised of multiple lab tests, is routinely offered to all pregnant women , and although optional, many expectant mothers are beginning to opt-in for the chance to gather as much information as possible. While being able to engineer or manipulate specific characteristics and traits of unborn babies may seem like science fiction, it is an increasing possibility given the exponential advancements in research.
The introduction of painless blood-based genetic screening was welcomed by many for its improved safety over prior, more invasive tests. However, while techniques available for genetic testing have indeed come a long way since Mendel’s peas, these advances come with the responsibility to consider the intimately connected ethical implications for human rights. There are three main elements of fetal genetic testing that should be carefully considered for their potential to compromise fundamental human rights.
I. Earlier Detection and Decision Making
One of the most obvious benefits of fetal genetic screening and testing is the ability to detect chromosomal abnormalities that have the potential to affect significantly an unborn child’s quality of life. Acquiring this knowledge early, with some tests being performed in the first trimester , will enable parents to prepare for the additional care their child may require, and also offers them the opportunity to decide whether or not to terminate the pregnancy should an abnormality be detected. These options beg the questions of how society defines life and determines quality of life, and how these definitions will continue to evolve with our newfound ability to assess certain aspects of an unborn child’s life.
Historically, people with disabilities have been disadvantaged and in some cases segregated from society. At the core of this issue is the belief that these genetic conditions are pathological abnormalities. The adoption of the United Nations Convention on the Rights of Persons with Disabilities clearly defines the intrinsic human rights that all people with disabilities should be afforded, and emphasizes the importance of recognizing differences among people as natural features of human diversity . It is now a well-accepted notion that people with disabilities should live in a world without discrimination. Does fetal genetic screening compromise this right? Is it duplicitous to suggest that fetuses should be screened for potential chromosomal abnormalities in an attempt to label and potentially terminate those identified as “abnormal,” while at the same time taking the position that the lives of people with disabilities should be celebrated and respected as natural variations in human diversity?
In light of these questions, perhaps the most contentious consideration, and one that has been debated for years, is whether human embryos are considered human beings and should be protected as such. Robert George, a Professor of Jurisprudence at Princeton University, defines human embryos as non-differentiable from human individuals in that they will independently progress to new stages of development . This is distinct from a single spermatozoon or an ovum, which will not independently mature into a human. Whether or not one identifies with Robert George’s definition of human embryos, with a pro-choice definition or some combination of these, it is undeniable these scientific developments require society to have an open discussion about the place of human rights in these decisions.
II. Interpretation of Results
Genetic screening can provide parents with the opportunity to learn if their unborn child may have a genetic disorder that could subject him/her to a life of impairment, and can allow for the early administration after birth of treatments or therapies, if available. Being able to treat disorders and diseases early is nearly unanimously agreed upon to be beneficial. However, in the absence of treatments for unalterable conditions, such as Down’s syndrome, is there a larger moral consideration when deciding whether such a condition should be prevented by abortion? Are all humans from the time of conception, including people with disabilities, inherently entitled to their right to life? How does and should the answer to that question affect decisions regarding whether or not to terminate the pregnancy if the fetus has an untreatable disorder?
As genetic screening increases our ability to assess the probability of a child having certain chromosomal abnormalities, it is not possible to determine with certainty whether the fetus actually has a genetic condition without further invasive and potentially harmful testing. The accuracy of cell-free DNA genetic testing has not yet been determined, although there have been reported cases of false positives . The interpretation of these probabilities and the decision to undergo further genetic testing are sensitive issues that require careful ethical consideration. Whose responsibility is it to weigh these probabilities, and how can it be ensured that patients are properly educated about the implications of their results?
Additionally, genetic conditions such as sex chromosome abnormalities that are not as well understood as conditions like Down's syndrome raise a whole new host of problems. It is not always possible to determine how such a condition will ultimately affect a person’s life in many cases, making decisions even more difficult with regard to unborn fetuses.
Finally, given that genetic screening collects sensitive and private information about both the fetus and the mother, should private companies be permitted to disclose this information directly to patients without the involvement of a healthcare provider? A concern of the public is that this personal information will be used to assess individuals applying for jobs or insurance coverage, and that disclosure of this information might be used to discriminate against those with existing disabilities or people pre-disposed to developing certain diseases. Furthermore, how can privacy laws, such as the Health Insurance Portability and Accountability Act or the Genetic Information Nondiscrimination Act , protect both parents and their children? Though many laws have been enacted to protect the privacy of individuals, human rights issues arising from these scientific advances remain to be addressed in many cases.
III. Genetic Modifications
In the realm of genetics, fetal screening and testing are just the beginning. This year, researchers from China were able to modify specific genes of human embryos successfully using the CRISPR/Cas9 technique . This technology was developed from the bacterial CRISPR-associated protein-9 nuclease (Cas9), which allows bacterial cells to adaptively protect themselves against bacteriophages by integrating a genome fragment of a virus at the CRISPR site . Though there are still scientific limitations currently preventing its successful and safe use in clinical healthcare, there are also ethical and human rights barriers that need to be addressed. Will the selection of specific traits and the deletion of others make eugenics a reality? What traits are considered abnormal, and is there a distinct line between a superficial and a medically necessary modification? How should this technology be controlled if it is approved for public use? The commodification of babies and the fear that quality of life can be assessed based solely on traits before birth threaten the diversity of humanity by opening the door to genetic engineering. These developments require a public conversation about the future of genomic research and how it should be applied.
With every new scientific advancement, and as existing technologies continue to improve, there needs to be an increased sense of social responsibility on the part of the scientific and medical communities. As the face of research changes so rapidly, researchers, healthcare providers, the government and the public must find their respective places in this human rights debate. It is crucial to remember that scientific research does not stand isolated; it is one of the many pillars that affect our humanity in an extraordinarily positive way, but can also be potentially harmful. As society is catapulted into a new age of research and technology, we must continuously question how these scientific advances will affect our rights and our views about what is fundamentally important to our collective humanity.
 Lo, Y., Corbetta, N., Chamberlain, P., Rai, V., Sargent, I., Redman, C., & Wainscoat, J. (1997). Presence of fetal DNA in maternal plasma and serum. The Lancet, 350, 485-487.
 Routine tests during pregnancy. (2014). Retrieved May 1, 2015 at http://www.acog.org//media/ForPatients/faq133.pdf?dmc=1&ts=20150823T2131442069
 Stanford Children’s Health: Common Tests During Pregnancy. (2015). Retrieved May 1, 2015 at http://www.stanfordchildrens.org/en/topic/default?id=common-tests-during-pregnancy-85-P01241
 Disability, disabilities, convention, UN, rights, accessibility. (2006). Retrieved May 1, 2015 at http://www.un.org/disabilities/convention/conventionfull.shtml
 George, R. (2008). Embryo ethics. Daedalus, 137, 23-35.
 Dugo, N., et al. (2014). Six consecutive false positive cases from cell-free fetal DNA testing in a single referring centre. J Prenat Med, 8, 31-35.
 Health Information Privacy. (ned). Retrieved May 1 2015 at http://www.hhs.gov/ocr/privacy/
 Liang, P., et al. (2015). CRISPR/Cas9-mediated gene editing in human tripronuclear zygotes. Protein & Cell, 6, 363-372.
 Barrangou, R., et al. (2007). CRISPR Provides Acquired Resistance Against Viruses In Prokaryotes. Science, 315, 1709-1712.