Abstract
Scientific advancements in the genetic testing and screening of children have provided answers for some and afforded therapies and preventive guidance for others. These benefits have the potential to revolutionize preventive medicine and categorically change outcomes in specific diseases. Ethical challenges emerge, however, when the benefits of testing come with a price related to its inherent ambiguities and uncertainties. Testing a child at risk for a condition of adult onset, for example, has generated tremendous debate and though generally discouraged, continues to plague clinicians dealing with the nuanced narrative at the bedside. In this chapter we unpack some of the arguments for genetic testing and screening in children. We use the best interest standard to explore these arguments and acknowledge when it falls short of helping to answer the question “what is ethically permissible?”. We explore the risks and potential harms done by performing or not performing a genetic test in a child, including psychological effects such as guilt. We highlight the importance of the child’s voice with such concepts as assent, informed consent, capacity and disclosure. We explore prenatal and newborn screening, and we address the increasing complexity of the patient as consumer of knowledge and manager of health choices. Finally, we aim to give the clinician a practical guide for determining what is ethically permissible and how to navigate decisions regarding genetic testing and screening of children. We include these convictions in the context of the North American perspective and offer areas of international discrepancy.
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Notes
- 1.
22q11 Deletion syndrome has a prevalence of approximately 1 in 4000 live births. Clinical features of 22q11 deletion syndrome vary markedly and include but are not limited to cardiac defects, developmental delays, immunodeficiencies, palatal defects, and psychiatric issues. Patients with this syndrome have a 50% chance of passing along the deletion for each pregnancy.
- 2.
Li Fraumeni syndrome is a heritable predisposition cancer syndrome caused by a mutation of the tumor suppressor gene TP53. Patients with a mutation in this gene are at increased risk for certain cancers (breast cancer, brain and CNS tumors, soft tissue and osteosarcoma, adrenocortical carcinoma and acute leukemia, among others) beginning in childhood and throughout their lives.
- 3.
Familial Adenoid Polyposis (FAP) is a an autosomal dominant disease caused by a mutation in the APC gene. Patients with FAP are at significant risk for developing colon cancer in their lifetime due to the development of 100 s of adenomatous colorectal polyps. Screening for classic FAP for those patients at risk begins at 10 years of age. Colectomy is recommended for most affected patients eventually, given the high number of polyps that will develop.
- 4.
BRCA1 and BRCA2 are the two genes associated with Hereditary Breast and Ovarian Cancer (HBOC) Syndrome. Individuals with mutations in either of these genes are at increased risk for developing breast and/or ovarian cancer.
- 5.
Autosomal dominant inheritance is a pattern of inheritance wherein a person carries one copy of a change in a gene on one of their autosomes (non sex chromosomes). In autosomal dominant inheritance, all that is needed to cause the disease is one changed copy (unlike in autosomal recessive inheritance where the disease presentation relies on two changed copies). Individuals with an autosomal dominant disease have a 50% chance of passing the disease gene down in each pregnancy/offspring.
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Menzel, M.B., Madrigal, V.N. (2022). Genetic Testing and Screening of Children. In: Nortjé, N., Bester, J.C. (eds) Pediatric Ethics: Theory and Practice . The International Library of Bioethics, vol 89. Springer, Cham. https://doi.org/10.1007/978-3-030-86182-7_19
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