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  • Camille Krejdovsky

Genetic Testing Through the Lens of Reproductive Health

In the realm of reproductive health and genetics, much attention has been given to the possibility of new advances that would allow for editing of the germline to create what has become known as “designer babies”. What has garnered less attention is a practice that is currently undertaken in every US state: newborn screening for genetic disorders. While these newborn screening programs are not new, there are advances on the horizon that warrant consideration, such as a shift from targeted testing centered around specific genes to genome wide testing. Even within the current programs that screen for a limited number of conditions, there exist ongoing ethical considerations that must be addressed.

The purpose of newborn genetic screening is two-fold and is intended to provide benefits on both an individual and population level. On an individual level, these screenings increase reproductive autonomy, allowing parents to “pursue assisted reproductive technology in order to avoid conception of an affected child, to consider termination of a pregnancy, or to prepare for the birth of a chronically ill child” (1). On a population level, newborn screening can help decrease the incidence of certain genetic conditions (2). However, these potential benefits can also become problematic, increasing stigma around non-fatal genetic conditions and implying that those conditions must be eradicated for the good of society.

In addition to concerns around the stigmatization of genetic conditions, there are many other ethical considerations that come with prenatal genetic screening, especially when envisioning genome wide screening becoming standard practice. Many of these concerns center around the quality and validity of the results these tests may produce, which is of the utmost importance in this context where life and death decisions may be made based on this information. As the scope of screening increases, so does the amount of information gleaned, making it more difficult to decide which results are clinically useful and the extent to which they can be used to make sound medical decisions (3). In addition, there is a distinction between diagnostic and predictive power in the results of genetic testing, which must remain clear in the minds of healthcare providers and explicitly explained to patients (3). Also relating to the communication of results, sensitive information may be gleaned from prenatal genetic testing, leading to questions around what information should be returned and to whom. For example, results from genetic screening could potentially have relevance to the health status of parents and/or other family members, and the question of whether to return this information and in what form becomes a challenge (2). In addition, issues arise relating to the autonomy of the unborn child, as results may appear suggesting susceptibility to conditions that would not manifest until later on in life. Questions arise around whether that information should be returned to the child, and if so, when and how it should be done (1). In addition, genetic results can often have serious consequences, especially with respect to employment and insurance discrimination, leading to the question of whether gleaning genetic information from an unborn child violates their right to control how their genetic information is used (1).

As genetic and genomic advances are made, ethical considerations arise that must be thoroughly addressed before new practices are put into place. In the realm of reproductive health, unique challenges are faced that warrant additional consideration given the vulnerable nature of the unborn child. While genetic screening has the potential to alleviate suffering and provide benefits to parents, progress must proceed carefully to ensure that unintentional consequences do not arise along the way.

Edited by: Laila Khan-Farooqi

Graphics Designed by: Kidest Wolde


  1. Ethical issues in genetic testing. ACOG Committee Opinion No. 410. American College of Obstetricians and Gynecologists. Obstet Gynecol 2008;111:1495–502.

  2. Dive, L., & Newson, A. J. (2021). Ethical issues in reproductive genetic carrier screening. The Medical journal of Australia, 214(4), 165–167.e1.

  3. Royal College of Physicians, Royal College of Pathologists and British Society for Genetic Medicine. Ethical issues in prenatal genetic diagnosis. Guidance for clinical practice. Report of the Joint Committee on Genomics in Medicine. London: RCP, RCPath and BSGM, 2022.



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