Engineering ethics in Genetic Testing in Children - Research Paper Example

Engineering ethics in Genetic Testing in Children Introduction DNA technology based testing has become an increasingly useful and available; it is used for a wide array of clinical practice applications. These tests play a crucial role in guiding the diagnosis of different conditions or diseases, noticing carrier detection, and for prenatal diagnosis or pre-symptomatic testing (Andermann et al. 318). The problems related with DNA-based tests include, not only that they are technically difficult, but also that they present a wide array of ethical dilemmas – in relation to their indications, mode of interpretation and their implications for the child being tested and their family. One of these ethics-related issues – one that needs to be addressed – is the question of whether it is ethically right to test children genetically. It is not questionable that the genetic testing that helps in the management of the child’s condition in the near future is crucial, irrespective of the age of the child being tested (Andermann et al. 317). However, the circumstances surrounding many genetic testing cases are complex, for example the request made by a parent requiring their child, who is suffering from Hemophilia A, to be tested on whether they are a carrier of the disease. The argument presented in favor of such case would be that, the parent is anxious to find out whether they will communicate it to her children. Background of study The ethical questions arising from the case include whether the parent should test the child for such a status, especially because the information will not be useful until she attains the age of starting her own family. Other genetic tests will be conducted at a population-wide level, with the aim of identifying the individuals that could be at risk of various conditions or diseases. In the US, more than 4 million children and infants are subjected to these tests, with the aim of discovering the hematologic, metabolic or endocrine abnormalities that can be corrected using early prevention or treatment (American Academy of Pediatrics 1453). Such tests are also conducted among the children showing the symptoms of developmental, physical or behavioral abnormalities, with the aim of determining the pharcogenetic medication to be prescribed and dosage levels. However, little attention has been channeled to the ethics-related issue of whether the children or the adults responsible for their care are fully informed – in advance – about the potential risks, the benefits and also the implications of the genetic information collected (Tluczek et al. 326). Following this line of argument, this report will explore the ethical issues related to the genetic testing of children, paying special attention to highlight the importance of disclosing all relevant information, to the responsible persons, prior to the testing. This stance was adopted, because the search through the literature exploring the issue showed that little information is given, compelling all responsible authorities and persons to disclose such information. Current situation The screening of new born children Almost all infants born in the US will have their blood samples collected for the screening of a variety of hematologic, endocrine or metabolic conditions or their condition in relation to infectious conditions – during the week following their birth. These tests are administered under the oversight of the respective states, and the testing procedures were started after Guthrie’s call for the diagnosis of phenylketonuria in 1961 (Wilson and Jungner 473). Immediately after the enforcement of the policy, some groups were opposed to the recommendations, giving the reasons that the possibility of harm on some children and the lack of proper dietary intervention did not justify the administration of genetic testing (National Research Council 23). Later, in response to the expansion of public health screening, WHO (World Health Organization) called for the study that led to the 1968 recommendations by Wilson and Jungner (473), enumerating the conditions that met the criteria for mass screening. The policy recommendations remained in place for more than four decades, until the developments made in the field of medicine enabled some authorities to push for changes in the criteria used (Andermann et al. 317). However, irrespective of the changes that have been made, there is the general agreement that population-wide testing, the history of the subjects should be studied, the corrective procedures should be available, and cost-effective testing should be accessible (Institute of Medicine 57). Table 1: National estimated incidence of Phenylketonuria between 1991 and 2000 The national incidence apparent is 0.05 (NNS & GRC 16) The debate related to the conditions to be covered by the testing procedures has varied from one state to another, leading to a crisis related to the equitable nature of the procedures (Paul 8). During the 1990s, certain states were testing for less than 5 conditions, but others were testing for more than 30, and that triggered the intervention of the ACMG (American College of Medical Genetic and Genomics) (Institute of Medicine 34). The systematic study of the testing procedures, conducted by the ACMG, under the sponsorship of government agencies evaluated the conditions to be included. ACMG proposed the coverage of more than 80 conditions, taking into account the benefits of testing for the child and the family (Wilson and Jungner 473). The recommendation maintained the conclusion that the testing done should present benefits to the child or the family, and that the benefits would form the justification for the testing; some groups objected the position. The final recommendations developed by the ACMG report recommended the coverage of 29 conditions in the testing, but little information was offered about the importance of treatment, the time taken by treatment, and the efficacy of the process of treatment (Paul 9). After the recommendations were made, little knowledge was supplied to the parents of the children, after the testing; therefore parent advocacy groups kept pushing for the expansion of coverage to also give information about the potential harms that could arise from testing (Tarini, Christakis and Welch 448). The adverse effects expected and expressed about the unsolicited testing of children included that it could lead to the subjection of children to unnecessary medication, the information could cause emotional and psychological distress and it could change a parent’s view about the child (American Academy of Pediatrics 1451). Further criticism arose from the fact that the report and the recommendations formulated by the CMG were endorsed by the advisory committee for the US department of Health and Human Services on children’s diseases and disorders (American Academy of Pediatrics 1452). The further endorsement of the unsolicited genetic testing of all children came from the American Academy of Pediatrics (AAP), and that raises the ethics-related questions about the choice of parents regarding the testing of their children. More importantly, the decision-making related to whether a child should be subjected to the testing should come after they are counseled and educated about the benefits of testing, the risks and also the steps taken after the testing. After gaining access to the knowledge and all information related to the testing procedures, parents should be able to exercise the freedom of accepting or refusing the administration of the procedure; informed refusal of testing should be acknowledged. Currently, it is a matter of debate, the best way that the consent of parents can be sought before their newborn children can be tested and screened (Institute of Medicine 34). As at now, most states in the US mandate the DNA testing of newborns, except the District of Columbia and Wyoming, where the active consent of the parents is sought, despite that written consent is not necessary (Andermann et al. 317). Except Nebraska, parents are currently allowed to reject the DNA testing of their children, although the reasons required for not taking the test differ from one jurisdiction to the other. Taking into account the large number of conditions tested, it is not desirable or realistic to go through consent-giving process for all the cases. Instead, many parents require knowing the importance of the tests, the centers that can offer them more information and the outcomes expected – in the case that the tests are not favorable (Tluczek et al. 326) Engaging parents in informed decision-making before they give their consent is the only way to guarantee that the system is working for the good of all; the respect of the autonomy of all is the guiding principle. The truth is that, this situation is far from being achieved, irrespective of the fact that it is the only way to address all the ethical and the legal issues related to the genetic testing of newborns and infants. Discussion and analysis Based on the exploration of the legal environment surrounding the genetic testing of children, the study of technical, historical and quantitative information showed that the subjection of newborns and infants to mandatory tests is largely unethical. Taking into account the rapid developments and changes taking place in the field of genetics, the options for testing asymptomatic children about underlying conditions, carrier status and disease susceptibility have become more and highly advanced (Davis et al. S326). Despite the fact that parents will ordinarily look out for the interests of their children’s wellbeing, the compulsion to administer a genetic test may present adverse implications for the children. Due to that reason, all medical personnel should be prepared to explore, acknowledge and discuss the ethical and the legal issues related to the situation with the parents (Davis et al. S328). This discussion is grounded on a variety of social concepts, including that the main goal of genetic testing should be the promotion of the child’s well-being. The second concept is the acknowledgement that children form a loop in a network of familial relations, which presents a fertile ground for conflicts. For that reason, emphasis should be paid to the promotion of deliberation aimed at the promotion of the well-being of the child and the family in general. The third concept is the realization that the growth of children offers them the moral and the cognitive abilities needed to engage them in the decisions related to their well-being. This is to mean that older children should be involved in the decision-making related to their genetic testing (Tluczek et al. 327). The main components that should be featured in the communication, knowledge-sharing and the counseling related to the genetic testing of children are explored next. The first is the evaluation of the significance of the benefits and the risks anticipated from the testing process and the second is the inclusion of the child, if he/she is capable of participating in the decision-making process. The third component of the process is that genetic testing should be oriented towards advocating for the explicit and the hidden interests of the child. The discussion has led to the exploration of the concepts that should guide the decision-making process related to the genetic testing of children, infants and newborns, and also the components of the deliberative communication (Paul 8). The review of the different areas has led to the conclusion that all testing should be performed following the active consent of the parents, and the testing circumstances should be explored to ensure that they are aimed at securing the child’s welfare. As a result, it should not be a matter of legislation or compulsion, but a matter of dialogue, leading to positive outcomes, based on the review of the impact of genetic testing, taking into account the medical and psychological benefits and costs. In the cases where the benefits are expected to accrue during adulthood – genetic testing should be differed until adulthood (Davis et al. S335). Conclusion DNA technology testing has become an increasingly available procedure, irrespective of the fact that it is not always offered to safeguard the health wellbeing of the child. Historically, these tests have been administered without allowing parents the freedom to choose whether their children need it or not. This paper explored the issue, and evaluated the benefits and the risks likely to arise from mandatory testing, and that led to the conclusion that all testing should be explored for usefulness, in a harmonious way by the parents and the medical personnel. The recommendation was that dialogue should take the place of the current legal directives, and the welfare of the child should be the main priority area. Works Cited American Academy of Pediatrics. ‘Committee on Bioethics. Ethical issues with genetic testing in pediatrics’. Pediatrics, 107.6 (2001):1451–1455. Andermann, Anne, Blancquaert, Ingeborg, Beauchamp, Sylvie, and Déry, Veronique. Revisiting ‘Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years’. Bull World Health Organ, 86 (2008):317–319. Davis, Terry, Humiston, Sharon, Arnold, Connie, et al. ‘Recommendations for effective newborn screening communication: results of focus groups with parents, providers, and experts.’ Pediatrics, 117.5 Pt 2(2006):S326–S340. Institute of Medicine. Committee on Assessing Genetic Risks. Assessing Genetic Risks: Implications for Health and Social Policy. National Research Council. Committee for the Study of Inborn Errors of Metabolism. Genetic Screening: Programs, Principles and Research. National Academy of Sciences: Washington, DC, 1975. Print. NNS & GRC. ‘National Newborn Screening 10-Year Incidence Report 1991-2000.’ National Newborn Screening and Genetics Resource Center, May 2009. Web. 08 July 2014. Paul, Diane. ‘Patient advocacy in newborn screening: continuities and discontinuities’. Am J Med Genet C Semin Med Genet, 148C (2008):8–14. Tarini, Beth, Christakis, Dimitri, and Welch, Gilbert. ‘State newborn screening in the tandem mass spectrometry era: more tests, more false-positive results.’ Pediatrics, 118 (2006):448–456. Tluczek, Audrey, Orland, Kate, Nick, Sara, and Brown, Roger. ‘Newborn screening: an appeal for improved parent education.’ J Perinat Neonatal Nurs, 23 (2009):326–334. Wilson, Glover, and Jungner, Gunner. ‘Principles and practice of screening for disease (pdf).’ WHO Chronicle Geneva: World Health Organization. 22.11(1968):473. Read More