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Why Education about Genetic Disorders during NIPT is Essential

Medical technologies and advancements have allowed us to move forward with new scientific breakthroughs that have changed the world of healthcare. However, with new advancements come more questions about the extent to which we can take certain ideas and how they affect people in different ways. One technology that we can analyze through a bioethical lens is that of Non-Invasive Prenatal Testing or NIPT.

NIPT is a type of prenatal screening done by analyzing fetal DNA in the mother's blood. This screening can identify a variety of different genetic conditions or disorders.


Though NIPT has its own set of benefits, the widespread implementation of NIPT for genetic disorders testing raises significant ethical concerns regarding the lack of informed consent during testing and the well-being of those who have genetic disorders. In order to address the public health ethics of NIPT, it is important to prioritize educating patients and providers about genetic disorders, promote informed consent and work to create access to counseling and awareness about disorders.


Though this testing can provide insight and clarity for families, it is important to consider how the implementation of it affects communities of the future. Canadian experts agreed that NIPT has the potential to play a role in decreasing populations of genetically disordered individuals. Additionally, experts were concerned about how this would affect those communities. NIPT could limit access and support to individuals who are living with such conditions. The lack of informed decision-making during NIPT testing is very dangerous. One way to combat this is to ensure that providers themselves have proper education on how to inform and guide families through these decisions.


As the scope of prenatal testing widens, questions about the routinization of these tests have risen. NIPT is becoming a regular practice, which means that it involves less counseling and time for decision-making. Only 29% of American College of Obstetricians and Gynecologists fellows provided educational materials to their patients following Down Syndrome diagnostic testing after a 2008 survey of over 500 fellows.


Additionally, patients in a U.S. survey reported not receiving sufficient information about Down Syndrome from their obstetricians. The lack of information being provided and the routinization of NIPT may put pressure on parents to undergo the screening process without fully understanding its comprehensive implications. In order to respect patient autonomy and the practice of informed consent, it is important that we set up providers, clinicians and healthcare professionals to best inform and educate patients on these topics.


Although there are many considerations when it comes to NIPT in the public health sphere, it is essential that we, as a society, foster appropriate, informative and relevant information about genetic disorders so that parents are well-educated and ready to decide on the next steps. I believe that healthcare systems should prioritize access to counseling, education of providers and patients and protecting the well-being of the family while respecting these different principles and values.


(The opinions expressed in this article are those of the individual author.)


Sources:  

Driscoll DA, Morgan MA, Schulkin J. 2009. Screening for Down syndrome: changing the practice of obstetricians. Am. J. Obstet. Gynecol. 200: 459.e1–9

Dupras, C., Birko, S., Affdal, A., Haidar, H., Lemoine, M. E., & Ravitsky, V. (2018). Benefits, challenges and ethical principles associated with implementing noninvasive prenatal testing: a Delphi study. CMAJ open, 6 (4), E513–E519.

Favre, R., Moutel, G., Duchange, N., Vayssière, C., Kohler, M., Bouffet, N., Hunsinger, M.-C., Kohler, A., Mager, C., Neumann, M., Vayssière, C., Viville, B., Hervé, C., & Nisand, I. (2008, February 20). What about informed consent in first-trimester ultrasound screening for Down Syndrome?. Karger Publishers.

Kaye, D. K. (2023). Addressing ethical issues related to prenatal diagnostic procedures. Maternal Health, Neonatology and Perinatology, 9(1). https://doi.org/10.1186/s40748-023-00146-4

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