Ethical Considerations related to Genetic Testing in Infants and Children

Background and Aim : Nowadays, running genetic tests and screening for children is commonplace. Early diagnosis and treatment can prevent or reduce the complications and the death rate. In contrast to neonatal screening, genetic testing of children is less common. Diagnostic genetic testing is typically carried out on children who have signs and symptoms of a potential genetic disease or on asymptomatic children with positive family history for a particular genetic condition. Providing the possibility of genetic testing for many disorders, recent advances in genetics and molecular technologies has also raised some complex ethical questions and challenges. Therefore, the present study aimed to review the ethical considerations related to genetic testing in infants and children. Materials and Methods : In this review article, the key words “genetic testing”, AND “newborns” OR “children” AND “ethical considerations” OR “neonatal screening” AND “ethics” were searched in PubMed, SID, and Google Scholar databases, and the relevant literature was determined and analyzed. Ethical Considerations : Measures were taken to ensure honesty in reporting and citing the texts. Findings : Although expanding more areas of knowledge is useful for the families, widespread screening has its own potential harms; adding any situations may increase the frequency of positive-negative results. To prevent the interference of unnecessary treatment, confirmatory testing is carried out. Diagnosis of a child as a patient when there is no such disease may lead to unnecessary anxiety on the parents. Other side effects include mental and emotional problems as well as lack of parental understanding. Likewise, widespread screening may bring about the case of “waiting patients”- patients diagnosed with a genetic asymptomatic case that may remain asymptomatic for years or decades. While introducing ethics does not always give definitive answers to the difficult questions of biomedicine, such rules can be helpful in providing some tips for correct decision-making. The most important ethical issues identified in this study consisted of respecting individual autonomy, consent, disclosure of information, confidentiality and privacy as well as justice. Informed consent: Even though parents’ refusal of screening is supported, no written informed consent is required to be obtained. Given the importance of newborn screening to reduce morbidity and mortality, screening should be offered to all parents and they need to be taught about the screening process and its objectives. In diagnostic tests, however, parents or guardians of the child must be informed about the risks and benefits of the test, ensured of the privacy and confidentiality of test results, and finally their informed consent needs to be obtained. There are two types of screening: mandatory and optional. In mandatory screening, parents are notified of the process and screening purposes, but obtaining their written informed consent is not required. In optional screening, on the other hand, parents have the right to refuse the screening test. In decision-making in prognostic or diagnostic tests, the main focus should be on the child’s medical benefit. Nonetheless, parents and guardians may also consider the mental and social interests of the child and family members, and their informed consent is necessary to be taken into account. The disclosure of information: Morally, it is required that some appropriate genetic counseling be carried out before doing genetic tests that may have significant effects on the health of the person concerned. Sometimes geneticists are afraid of disclosure of psychologically sensitive information. It is quite possible that knowledge of such information are more hazardous for an individual or his family than being beneficial. It is generally preferable that individuals and families be aware of the issue of the disclosure of the results prior to the test. Such an approach will reduce the psychological shock and rushed decisions. Confidentiality and Privacy: Confidentiality is one of the most important ethical issues in medical genetics. Having obtained the informed consent from the patient person, the relatives at risk must be provided with the person’s genetic data to be informed of the genetic risks. The results of such tests as carrier tests, assessment of genetic predisposition, and prenatal diagnostic testing should not be offered to brokers, insurance companies, and government agencies. Justice: Justice is another critical principle of bioethics. One of the principles in bioethics topics, including medical ethics, especially in the equitable distribution of scarce health resources under justice is distributive justice. Distributive justice is referred to as the balance between profits and losses as well as fair distribution based on the needs. The other instance is equal access to genetic testing and counseling services. On the other hand, people should not be subject to injustice because of their genetic conditions. Conclusion : The results of genetic testing should be unbiasedly and completely released so they can make proper decision making conceivable. Research should be focused on the effects of preventive and therapeutic interventions and the psychological effects of the tests. Such data are needed to define the experimental benefits and harms of genetic tests before performing them. Since genetic testing has increasingly become possible for children and adolescents, it is recommended that ethical codes for genetic testing in children and adolescents be developed and their proper implementation be monitored so as to prevent any unethical misuse of such tests. Please cite this article as: Korani S, Davari F, Azizi F, korani M. Ethical Considerations related to Genetic Testing in Infants and Children. Med Ethics J 2017; 10(38): 69-80.