With the advent of the consumerization of pretty much anything, anyone can purchase readily accessible products, from thin, sleek computers to the genomes of newborn babies. Genetics has essentially been made into a business, with many entrepreneurs and investors battling for a share of this new, innovative money-making venture. Demonstrating a clairvoyance only found in fiction, companies are now advertising laboratory tests that can predict the exact diseases a child might develop in the future.
In the process of newborn genetic screening, when a baby is only about two or three days old, their blood, obtained from a heel prick, can be used to detect any genetic disease [1]. At first glance, this test should be every parent’s dream. Armed with the knowledge from these screenings, parents can prepare for their newborn to undergo several medical interventions early on in life to prevent any debilitating disorder in the future. Thousands of newborns are protected from attaining disabilities later on in life because of the early detection of diseases [1].
One of the largest studies analyzing the efficacy of genome sequencing on newborns was conducted on nearly 30,000 newborns in China, testing for almost 128 conditions. Researchers found further renewed interest in newborn genomic screening: 59 diseases that were previously undetectable by alternate forms of screening, such as biochemical newborn screening, were identified by genome sequencing. This indicated that about 1 out of every 500 newborns could be saved from a future disability with this technology [2].
What researchers were most thrilled about was the ability of genome sequencing to be a definitive prophylactic measure against extremely rare diseases. Although they are ignored due to their low prevalence, cumulatively, rare diseases can have devastating consequences on the population. For example, cystic fibrosis, a disorder that attacks the lungs and the digestive system, is extremely rare but it affects 70,000 individuals worldwide and requires lifelong medical care [2].
In general, many rare diseases pose extreme burdens to people, from financial stress to deteriorating health over time. It often takes specialized or targeted treatments to combat these disorders, which are not only expensive but also not readily accessible [3]. Being aware of a genetic disease at an earlier point in development can eliminate the need for such burdensome services. For a parent to understand that their child has a high risk of developing a genetic disorder later on in life means that the parents must prepare in advance to give their child treatments or medical interventions to lessen the severity of the disease later on. In many studies, when a newborn is diagnosed with a predisposition for a disorder, if they are given the correct treatments immediately, they will have to undergo less pain and stress later on in life. For example, 60% of the deaths due to immunodeficiency disorders are solely because patients did not receive a hematopoietic stem cell transplant on time. An early diagnosis and treatment plan would thus prevent unnecessary deaths [7].
However, several concerns have been lodged against this innovation, specifically in relation to the ethics behind genome sequencing. One of the primary concerns has been about the ambiguity of genetic disorders and the difficulty in detecting every single variant. Genetic screenings are thus complicated by the presence of multiple variants, such as CF mutations, which can lead to inaccurate readings [2]. How can physicians advise the correct course of medical treatment if they cannot diagnose newborns properly?
Additionally, with every medical test, there is always a certain fear surrounding the results that determine the newborn’s future and subsequently, the newborn’s parents. A positive result will surely induce anxiety in the parents as they contemplate the next steps with the knowledge that their child is predisposed to a debilitating health condition. Furthermore, the possibility of receiving a false positive result can also induce anxiety even when the parents are assured that their child will continue to be perfectly healthy [2]. The psychological consequences of such a screening leave physicians to wonder if it is ethical or not to create such emotional distress in the parents.
Labeling newborns as soon as they are born can also have detrimental impacts on the newborns themselves. Physicians risk dehumanizing newborns by having their genomes sequenced at such a young age without consent. Deemed “patients-in-waiting,” newborns are robbed of any sense of normalcy as they precariously balance between states of “sickness” and “health” [4].
Finally, critics condemn the privacy newborns are deprived of when their genomes are sequenced and published in public databases. The fact that so many people are aware of an individual’s health risks and complications before that person is fully aware of the world is a violation of a newborn’s right to withhold this type of information. Employers now have the ability to discriminate against people based on their findings; if a person is at risk of developing Alzheimer’s in their mid-40s, companies can immediately reject an individual for not being an asset to the business [2]. While policies, like the Genetic Information Discrimination Act, prevent discrimination based on genetic data, its realm of authority does not influence life, long-term care or disability insurance. These “holes” in these policies show the flaws within the healthcare system and spotlight many of the ethical concerns raised by critics [6].
Newborn genomic screening has become more and more prevalent, with researchers expanding their areas of study to include more diverse groups of people. The BabySeq study, designed to sequence the genomes of newborns right after birth, and many more only proves that this technology is becoming easier to access and use [5]. The implications of the consumerization of newborn genomic screening has yet to be determined. While this test has proven capable of saving many children from future disabilities, concerns of dehumanization of newborns can be incredibly detrimental to the next generation.
As newborn genomic screening is taken to new levels to create a more precise and effective way to identify risks for genetic diseases, it is still incredibly important to stay grounded in the purpose this new innovation was developed: to advance healthcare equity and to ensure that every person has a chance to survive and live a fulfilling life despite their health challenges.
1. Newborn genetic screening. Genome.gov. (n.d.). https://www.genome.gov/genetics-glossary/Newborn-Genetic-Screening.
2. Jiang S, Wang H, Gu Y. Genome Sequencing for Newborn Screening—An Effective Approach for Tackling Rare Diseases. JAMA Netw Open. (2023). 6(9). doi:10.1001/jamanetworkopen.2023.31141.
3. Centers for Disease Control and Prevention. (n.d.). CDC Archives. Centers for Disease Control and Prevention. https://archive.cdc.gov/#/details?url=https://www.cdc.gov/genomics/events/newborn_screening_2021.htm.
4. Sussex Publishers. (n.d.). Neither sick nor healthy: Patients-in-waiting. Psychology Today. https://www.psychologytoday.com/us/blog/the-gravity-weight/202109/neither-sick-nor-healthy-patients-in-waiting.
5. Fliesler, N. (2023, October 24). BabySeq 2 aims to bring equity to newborn genomic sequencing. Boston Children’s Answers. https://answers.childrenshospital.org/babyseq-2/.
6. Genetic information discrimination. US EEOC. (n.d.). https://www.eeoc.gov/genetic-information-discrimination.
7. Biggs, C. M., Haddad, E., Issekutz, T. B., Roifman, C. M., & Turvey, S. E. (2017). Newborn screening for severe combined immunodeficiency: a primer for clinicians. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne, 189(50), E1551–E1557. https://doi.org/10.1503/cmaj.170561.