Commentary |

Ethical Issues in Genetic Testing of Children

Lainie Friedman Ross, MD, PhD; Margaret R. Moon, MD, MPH
Arch Pediatr Adolesc Med. 2000;154(9):873-879. doi:10.1001/archpedi.154.9.873.
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Clinical genetics is an integral part of pediatrics. Genetic diseases are common in childhood: as many as 53 per 1000 children and young adults can be expected to have diseases with an important genetic component.1 This rate increases to 79 per 1000 if congenital anomalies are included.1 In addition, 12% to 40% of all pediatric hospitalizations are for genetic diseases and birth defects.24 Despite its importance in primary care pediatrics, genetics has maintained its subspecialty status. Newborn screening for genetic diseases is the only aspect of genetics that has been incorporated as routine pediatric practice.5

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Figure 1.

Genetic testing in high-risk children (ie, children who have symptoms or are from a high-risk family).

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Figure 2.

Genetic screening and testing in low-risk children (ie, children who are asymptomatic and are from a low-risk family).

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Figure 3.

Genetic testing for carrier status (ie, an autosomal recessive or sex-linked condition in which the carrier status confers no or minimal risk of morbidity or mortality but is important for reproductive decisions).

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