However, identification of infants as carriers may lead to misinterpretation by parents and others, resulting in changes in the parent-child relationship and social discrimination. Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Ethical Issues in Carrier Screening/Testing. Furthermore, the AAP concurs with the IOM recommendation that established programs be reviewed periodically to consider the addition, elimination, or modification of current screening modalities.4, A persistent ethical issue in newborn screening is whether screening should be voluntary or mandatory. Recommendations for follow-up care of individuals with inherited predisposition to cancer: II. Additional research needs to be conducted on carrier screening in children and adolescents. The frequency of informed refusals should be monitored. Given the established efficacy of newborn screening programs, it will be essential to demonstrate that expanded education and consent function to enhance the quality of these programs.
In addition, research to develop an efficient and effective informed consent process for newborn screening is necessary. We do not capture any email address. The human genome project and the future of medicine. 1. Canadian experience with predictive testing for Huntington disease: lessons for genetic testing centers and policy makers. Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels.
Cystic fibrosis newborn screening: impact on reproductive behavior and implications for genetic counseling.
Statement of the American Society of Human Genetics on genetic testing for breast and ovarian cancer predisposition. The recommendations in this statement do not indicate an exclusive course of treatment or serve as a standard of medical care. Given these concerns, detailed counseling, informed consent, and confidentiality should be key aspects of the genetic testing process, particularly when the benefits are uncertain. (2013) Two is better than one: A case of homozygous muscular dystrophy.
In the absence of clearly beneficial treatments or effective preventive strategies, genetic testing of children and adolescents may not be justified. Theoretically, carrier testing or screening before the initiation of sexual activity would increase the reproductive choices of those found to be carriers in comparison with carrier testing during pregnancy.
Carrier screening for pregnant adolescents or for some adolescents considering pregnancy may be appropriate. Statement on use of DNA testing for presymptomatic identification of cancer risk. Third, genetic information often has limited predictive power.
The effects of false-positive results on parental anxiety also are a serious concern.9–13 In addition, a small percentage of parents may have a persistent misunderstanding of their child's risk for developing CF after a false-positive newborn screen, and false-positive results may influence parental reproductive decisions.14 Thus, the justification for newborn screening for CF has been a subject for debate, although several states, including Wyoming and Colorado, have initiated programs. A long-term study in Wisconsin demonstrated nutritional benefits to early detection of CF, and reports on the effects of screening for pulmonary function are anticipated.15 Similarly, 19 states have introduced newborn screening for congenital adrenal hyperplasia, and a number of studies are under way to evaluate the sensitivity and specificity of different approaches used by these programs16,,17 and their impact on the health of affected children. Whether programs are voluntary or mandatory has significant implications for informed responses to test results and for the integration of new tests into established programs. Psychological impact of population-based carrier testing for cystic fibrosis: 3-year follow-up.
BRCA1 testing in families with hereditary breast-ovarian cancer: a prospective study of patient decision making and outcomes. Furthermore, the knowledge of increased risk status may trigger adverse psychological responses and, potentially, discrimination by insurers, employers, or others. Because genetic screening and testing may not be well understood, pediatricians need to provide parents the necessary information and counseling about the limits of genetic knowledge and treatment capabilities, the potential harm that may be done by gaining certain genetic information, including the possibilities for psychological harm, stigmatization, and discrimination, and medical conditions and disability and potential treatments and services for children with genetic conditions.
American Society of Human Genetics, American College of Medical Genetics. The IOM report suggests that it is appropriate for states to mandate the offering of “established tests (eg, phenylketonuria, hypothyroidism) where early diagnosis leads to improved treatable outcomes.”4 The AAP Committee on Genetics concurred that state governments should mandate the offering of tests (although some members of the Committee expressed the opinion that testing should be mandated).16 Consistent with the recent report of the Newborn Screening Task Force,25 the AAP recommends that states evaluate an informed consent process for newborn screening tests to foster parental education and promote informed responses to test results. When Should Children Be Tested for Genetic Diseases? Reporting the infant's carrier status to parents has the theoretical advantages of informing parents that they may be at risk for bearing an affected child (if both parents are carriers) and of enabling the family to be aware of the child's future reproductive risk.
State-to-state variations in newborn screening policies.
Serving, the family from birth to medical home: a report from the Newborn Screening Task Force convened in Washington, DC, May 10–11, 1999.
This statement draws on analyses of ethical issues in genetic testing by a number of influential bodies, including the National Academy of Sciences,2 the President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research,3 the Institute of Medicine (IOM),4 and the Working Group on Genetic Testing for the National Human Genome Research Institute.5. The AAP recommends that new newborn screening tests be introduced in a carefully designed manner that facilitates evaluation of the risks and benefits of screening, including the efficacy of follow-up and treatment protocols. American Academy of Pediatrics, Committee on Bioethics.
Informed consent in this context need not involve a signed consent form for tests of established value, but must include basic information on the purpose of screening and the importance of prompt responses to abnormal results.
The purpose of newborn screening for genetic disorders is to limit the morbidity and mortality attributable to selected inherited diseases. Should people be allowed to choose or refuse the test, or should it be mandatory, as newborn screening is in some states?
Furthermore, parents should have the opportunity to obtain or refuse their own testing for carrier status (newborn screening should not be used as a surrogate for parental testing). Four-year follow-up of psychological reactions to false positive screening tests for congenital hypothyroidism. Because young children are unable to discern the value of genetic information for their own lives, particular care must be exercised by parents and pediatricians when making decisions about genetic testing for children. The AAP does not support the broad use of carrier testing or screening in children or adolescents.
BRCA1 and BRCA2.
Each new genetic test that is developed raises serious issues for medicine, public health, and social policy regarding the circumstances under which the test should be used, how the test is implemented, and what uses are made of its results. For example, newborn screening for sickle cell disease will identify infants who are carriers (in addition to those who are homozygous for the disease). Carefully conducted pilot programs to document benefits and costs of newborn screening and the frequency and consequences of informed refusal of newborn screening tests will be important. Journal of Genetic Counseling, published online December 19, 2013. Public participation in medical policy making and the status of consumer autonomy: the example of newborn screening programs in the United States. Our genes interact with our environments in complex ways, often making predictions impossible about whether disease will develop or the severity of its manifestations. Abstract. Thus, the test results of one person have direct health implications for others who are genetically related. Furthermore, it is argued that the great majority of parents will continue to be supportive of newborn screening when they are informed adequately of the risks and benefits.20 With continued broad public support, approaches involving informed consent (that is, parental permission21) may fulfill the important goals of the programs and enhance program quality while respecting traditional parental prerogatives to be informed participants in health care decisions for their children.
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