Mandatory Genetic Screening of Children - Assignment Example

PROBLEM OF INFORMED CONSENT IN MANDATORY GENETIC SCREENING OF CHILDREN AMONG INDEGENOUS POPULATION Yu Vin Song In 2003, scientists at the National Human Genome Research Institute successfully mapped the entire genome of humans (Pennisi, 2003). This groundbreaking scientific achievement has helped clinical researchers and the medical community to understand the hereditary causes of many diseases and disorders. This feat, called the Human Genome Project, also creates a promise of important medical advances in the future. Today, individuals can take a genetic test to determine whether they are at a higher risk for a disease, such as breast cancer and colon cancer (Collins 2003). If an individual tests positive on a genetic test, they have a genetic predisposition to a disease, which is defined by the National Institutes of Health (NIH) as “increased susceptibility to a particular disease due to the presence of one or more gene mutations, and/or a combination of alleles… that is associated with an increased risk for the disease, and/or a family history that indicates an increased risk for the disease” (National Library of Medicine 2010). Knowledge of a genetic predisposition allows an individual to take preventative measures to limit the effects of a disease or to otherwise prepare for the onset of a disease. Because genetic testing is extremely beneficial as it can provide an individual with information about their susceptibility to a disease and allow them to take preventative measures or screening measures, healthcare organizations and institutions should promote mandatory genetic screening for children among indigenous populations. The problem of informed consent and genetic screening has been a widely debated issue, particularly in medical field. For instance, most guidelines expressed by medical organizations contained recommendations against testing adolescents and children for hereditary late-onset diseases. It is important to remember that respect for the individual and valuing of autonomous decision-making are the moral and ethical cores underpinning informed consent. This written, and often oral, process provides important information that aids potential participants in their decision to participate in a research study. By providing adequate and comprehensible information, an informed consent enables independent decision-making and may minimize participant harm. Basic ethical principles such as beneficence, nonmaleficence, fidelity, integrity, justice, and respect for persons help guide our understanding of informed consent; however, the practical application of such a process is rarely as simple or easy as theory might suggest (Corrigan, 2003). In the context of indigenous groups, the problem is complicated with population low awareness for available screening procedures for hereditary late-onset diseases. However, even if assuming that information become available, the problem of informed consent in indigenous populations will likely to remain. Despite the popular thinking expressed by some healthcare professionals that genetic screening among children for hereditary cancer can be postponed till they reach adulthood, early mandatory testing provides significant benefits for children, especially who are at risk for disease because of family history. From statistical perspective, many people have not heard of genetic testing (Mogilner et al, 1998). If an individual has never heard of genetic testing, he or she cannot effectively evaluate the risks and benefits to decide if testing is right for them. Of those who have heard of genetic testing, many have not utilized the tests (Keiran et al., 2007). Few studies have examined what affects the individual’s awareness of genetic testing. However, awareness of genetic testing will greatly affect whether a person actually takes the test, so this is an important topic to consider. Avigyail Mogilner and colleagues (1998) examined whether patients at the Mount Sinai Medical Center were aware of genetic testing for breast cancer. Their study found that women who were most aware of genetic testing for breast cancer were middle-aged, Caucasian, Jewish, highly-educated, or had an income of greater than $100,000. It is plausible to indicate that level of education, social status and economic income are factors influencing individuals’ awareness of genetic testing. From this perspective, indigenous populations are less likely to be aware of benefits achieved from early genetic testing and children’s screening. From the critical perspective, an ethical basis for the genetic testing of children is premised on two factors: medical facts and the developmental capacity of the child who is a candidate for testing. The maturity level of children vary, even when they are at the same age. Thus, pediatricians and parents must honestly answer the questions asked and listen carefully to the opinions expressed by children. The decision to test a young adolescent girl for breast cancer susceptibility requires the careful balancing of respect for her developing autonomy with the obligation to act in her best interests (Kodish, 1999). Most cases of breast and ovarian cancer occur in women with no family history, but about 7% of breast cancers and 10% of ovarian cancers are hereditary. The majority of hereditary breast and ovarian cancers that occur are the result of mutations in the BRCA1 gene or the BRCA2 gene (Chen et al, 2006). BRCA mutations have an autosomal dominant inheritance pattern, which means that each child of a parent with the genetic mutation has a 50% chance of inheriting the same mutation (Chen et al, 2006). Breast cancer primarily occurs in women, but both males and females can inherit and transmit a BRCA mutation. Thus, the risk of inheriting a BRCA mutation is the same whether it is inherited from the father or the mother. Four American medical organizations have issued position statements regarding genetic testing of minors for hereditary adult-onset diseases, such as BRCA-related cancers: the American Medical Association (AMA), the American Society of Human Genetics (ASHG), the American Academy of Pediatrics (AAP), and the American Society of Clinical Oncology (ASCO) (Skirton, 2002). The consensus statements are similar: in order to justify the genetic testing of children and adolescents, the potential benefits of testing should outweigh the risks of testing. As all consensus statements employ a formulation of the best-interests standard, it is necessary to identify the interests. According to Buchanan and Brock (1989), children have two types of interests: current and future-oriented ones. Since children cannot exercise autonomy-derived rights until they are fully informed and capable, parents have an obligation not to let their values interfere with respecting what their child may want for his or her future self. Parents have the responsibility to care for their children so that in the future children will be capable of affirming certain objectives on their own, and accomplishing other independent acts (Skirton, 2002). Early genetic screening has been recognized as highly effective method in promoting children’s health. Empirical data suggests that current testing for BRCA mutations is highly effective. Recent studies have shown that BRCA testing is “highly specific,” which means that those without a BRCA mutation will test negative (Berry et al, 2002). BRCA testing has also been found to be “highly sensitive” with rates approaching 90.5% for females in families where BRCA mutations have already been diagnosed, which means that the testing is recognized as accurate. There are several medical benefits of early BRCA testing. Early risk assessment through BRCA testing may influence current and future medical management. For example, a positive result could lead to earlier or more frequent surveillance. A woman who has tested positive for BRCA 1 or 2, genes associated with a heightened genetic risk for breast or ovarian cancer, could among other things, increase screening to detect cancer in an early stage of development, or get a prophylactic mastectomy or oophorectomy in order to minimize her future risk of developing the disease (National Cancer Institute 2009). The current recommendations for females with an increased risk of BRCA breast cancer suggest semiannual clinical breast examination and annual mammography beginning by age 25 (Brekelmans et al, 2001). Therefore, it should be widely recognized among healthcare practitioners, researchers and parents that BRCA testing is an effective tool that possesses high sensitivity, specificity, predictive value, and clinical utility (Sharpe and Carter, 2006), and for those individuals who are at risk for carrying the mutation, BRCA testing is the best way to confirm whether they have a mutation. There is a need for criteria being developed for informed consent of young adolescents from indigenous groups seeking genetic testing. The informed consent process should be structure to maximize the input of adolescents by encouraging them to talk about what testing means to them. Sometimes, a minor’s first reaction to the genentic testing may be postivie, but that may not be enough evidence that she has an adequate understanding of the risk and benefit of tesing. Health care providers need to encourage greater communication between mothers and daughters in indigenous BRCA families. Unfortunately, adolescent girls in breast cancer families have been found to overestimate their actual risk of getting cancer. This has been attributed, in part, to a lack of communication with their mothers. Benefit analysis of early genetic testing for BRCA mutation reveals the necessity of establishing the testing for adolescents in indigenous groups. It would be beneficial for policy-makers to reach out to indigenous communities in order to educate them about genetic testing. This will help to increase the number of people aware of genetic testing and therefore give more people who are at risk the opportunity to potentially benefit from genetic testing. In addition, professional groups should consider changing their guidelines regarding BRCA testing of adolescents because the risks of testing are limited and are outweighed by the benefits. REFERENCES Brekelmans, C. T., S. Seynaeve, C. C. Bartels, M. M. Tilanus-Linthorst, E. J. Meijers Heijboer, S. M. Crepin, A. A. van Geel, M. Menke, L. Verhoog, A. van den Ouweland, I. M. Obdeijn, et al. (2001) “Effectiveness of Breast Cancer Surveillance in BRCA1/2 Gene Mutation Carriers and Women with High Familial Risk.” Journal of Clinical Oncology 19, no. 4, pp. 924-930. Buchanan, Allen E., and Dan W. Brock. (1989). Deciding for Others: The Ethics of Surrogate Decision Making. Cambridge: Cambridge University Press. Collins, F. (2003). A Brief Primer on Genetic Testing. World Economic Forum. National Human Genome Research Institute. Retrieved Nov 4, 2010 from Corrigan, O. (2003). Empty Ethics: The Problem with Informed Consent. Sociology of Health and Illness, 25(7), 768-792. Chen, Sining, Edwin S. Iverson, Tara Friebel, Dianne Finkelstein, Barbara L. Weber, Andrea Eisen, Leif E. Peterson, Joellen M. Schildkraut, Claudine Isaac, Beth N. Peshkin, et al. (2006). “Characterization of BRCA1 and BRCA2 Mutations in a Large United States Sample.” Journal of Clinical Oncology 24, no. 6, pp. 863-871. Kieran, S., Loescher, L. J., and Lim, K. (2007). The Role of Financial Factors in Acceptance of Clinical BRCA Genetic Testing. Genetic Testing 11, no. 1: 101-110 Kodish, Eric D. (1999). "Testing Children for Cancer Genes: The Rule of Earliest Onset." Journal of Pediatrics 135, no. 3, pp.390-395. Mogilner, A. et. al. (2006). Awareness and Attitudes Concerning BRCA Gene Testing. Annals of Surgical Oncology 5, no. 7: 607-612. Pennisi, E. (2003). Reaching Their Goal Early, Sequencing Labs Celebrate. Science 300, no. 5618: 409. Sharpe, N. and Carter, R. (2006). Genetic testing: care, consent, and liability, Wiley and Sons. Skirton, H. (2002). Genetics for Healthcare professionals: a lifestage approach, BIOS. Wear, Stephen. (1998). Informed Consent: Patient Autonomy and Clinician Beneficence within Health Care. 2nd ed. Washington, D.C.: Georgetown University Press. U.S. National Library of Medicine. (2010). “Glossary – Genetic Predisposition.” Retrieved Nov 4, 2010 from Read More