Genome sequencing is controversial in biomedical engineering. Newborn dried blood spot screening (NBS) aims to map the genetic code of newborns by collecting drops of blood. Therefore, genetic disorders can be screened out. By 1975, 43 states in US had legislated mandatory NBS of phenylketonuria disorder (PKU) for all infants. The problem comes out, there has been an expanding number of disorder to be mandatorily screened. That is, it comes to a dilemma, should NBS service be made mandatory to public?
Newborn screening: Do we really want to know the result? (Mandatory)
The purpose of whole genome diagnosis is to screen all possible current and future health hazards, including serious genetic, metabolic, hematologic, infectious or auditory disorders, of the newborns. In order to meet the purpose, NBS should be made mandatory so that the parents can know about the health situation of the newborn in depth.
With compulsory NBS, parents can be both mentally and technically prepared for how to take care their baby and can find early treatment for their children. For example, if the baby has high risk of obesity, the parents can train their children to develop a healthier lifestyle or seeking help from nutritionist to prevent obesity problem.
Moreover, the blood samples of the newborn also imply the privacy and identity of family members. Family history will be reflected by screening the baby’s blood sample. If the newborn has disorder, it may probably inherit from their parents. This may help notice the health background of the parents so that it can raise their awareness on their health situations.
In addition, current low birthrates and the ageing population problems are no longer a local problem but a global issue(Kelly, Makarem and Wasserstein, 2018). This implies the labour force is decreasing globally. Gene screening of newborns can provide early treatment to the baby who would otherwise have been permanently disabled. This definitely reduce the probability of infant mortality as well as save the productive members of the society.
As the screening target of NBS is the infant, they get no choice in determining whether to map their genes or not. It is their parents who make the choice for them. That is, the infant themselves have the equity and right same as the others to screen out any disorder and prevent the health risk as soon as possible. Making it mandatory can make sure every newborns get the same right to protect themselves.
Last but not least, legislating mandatory NBS means there are larger number of gene mapping result. Scientists can request for the use of dried blood spots under strict review and evaluation. And the requested sample codes will be assigned to a new tracking number. Therefore, the privacy of the infant can be protected. When scientists have better knowing of different disorder sequencing under a legal request of the samples, they get a higher chance of correcting the problem gene. It in turn, saves more human life.
Our evaluations are based on the number of human life that can be saved and the human right of infants. Legislating compulsory NBS can on one hand help most of the newborns with disorder to better prevent and tackle to the problem. On the other hand, infants have the right to know the health through gene sequencing.
Newborn screening: Do we really want to know the result? (Voluntary)
Although NBS has various benefits on diseases testing for infants, retrospective researches of families, etc. It ought not be mandatory to every individual. People ought to defend the public’s right to reject any unwilling gene test in any form.
NBS may create the fear of perverse experiments in eugenics, also associated people’s concern with racial discrimination, social stigmatization and labelling. There may be historically and culturally particular stigma in light of genetic test results. For example, in the US, there are reports on the historical basis of racism against African Americans and misunderstanding of sickle cell screening resulting in mistrust and suspicion in NBS with sickle cell screening described as viewed by some as a potential attempt at racial genocide or to reduce reproduction amongst African Americans (Tarini and Goldenberg, 2012).
NBS can change life planning decisions of an innocent child in unintended modes. Besides false positives results, such as the sickle cell screening, indeterminate results and overdiagnosis are significant factors that must be considered due to the great harm to families from such a mishandling result. Indeterminate results make children and their families suffer from “diagnostic dilemmas”. Like Krabbe disease, the treatment might be as harmful as the diagnosis. What the family could do only is to await the onset of this disease in a fear. In addition, an overdiagnosis usually happens during screening programs and always complicates matters, because screening occurs in an asymptomatic population, clinical features cannot be used to distinguish between a true case of disease and a case of overdiagnosis. Unfortunately, children will be compelled to accept some unadaptable treatments when they have been told that the disease threaten their lives.
Additionally, NBS is implemented by state-run public health programs. Every state therefore has the responsibility and authority to structure and operationalize the program in any ways based on its conditions of finances, techniques, etc., which leads to a large number of unfairness with respect to many aspects of the program. The most visible unfair variation is the differences in the disorders screened. For instance, some children are not able to be screened for certain disorders because of their specific birthplaces.
Parents must worry about children’s health and future and suffer the unnecessary stress and anxiety due to some deficiencies of NBS like what mentioned above. Those depressions, impaired parent-child relationships and broken hearts could be avoided if parents did not receive the mandatory NBS. On the other hand, unnecessary health care services and hospitalizations result in medical resources waste.
Therefore, NBS should be optional for citizens. The mandatory nature of NBS is known as a ‘emotionally taxing’ that ignores the psychological impact of unfavorable screening results. Legislation could be one option, for example, parental permission before participation and compensation for false positives.