Testing Children for Adult-Onset Genetic Diseases

* Abbreviations: AAP — : American Academy of Pediatrics APC — : adenomatous polyposis coli BRCA1 and BRCA2 — : breast cancer–associated genes 1 and 2 FAP — : familial adenomatous polyposis HBOC syndrome — : hereditary breast and ovarian cancer syndrome

The Committee on Bioethics of the American Academy of Pediatrics (AAP) advises against genetic testing of children for conditions that have their onset in adulthood. They write, “Genetic testing for adult-onset conditions generally should be deferred until adulthood or until an adolescent interested in testing has developed mature decision-making capacities.”1 The Clinical Genetics Society in the United Kingdom expresses similar views, writing that “The predictive genetic testing of children…for an adult onset disorder should generally not be undertaken…until the ‘children’ request such tests for themselves, as autonomous adults.”2

Nevertheless, many parents seek genetic testing of their children, especially for situations in which a genetic disease is known to be present in the family. They may have different reasons for wanting their children tested. These requests create a dilemma for pediatricians. The dilemmas arise, in part, because not all “adult-onset” diseases are alike. Sometimes, there are interventions that may be beneficial in childhood; sometimes, parents seek the reassurance that might come with a negative test result.

When, if ever, should we accede to parents’ requests to test a child for an adult-onset condition? In this “Ethics Rounds,” we present 2 cases that illustrate the dilemma. We then ask experts in genetics and bioethics to comment on the cases and suggest the factors that pediatricians should consider when facing requests from parents for genetic testing of children.

### Case 1

A woman with familial adenomatous polyposis (FAP) contacted a genetic counselor to request genetic testing for her newborn infant. FAP is an autosomal-dominant, hereditary colon cancer syndrome caused by mutations in the adenomatous polyposis coli ( APC ) gene. Affected individuals generally begin to develop precancerous polyps as teenagers, although some have developed polyps as early as age 7. Colon cancer is inevitable, and the average age of colon cancer diagnosis in untreated individuals is …

Address correspondence to John D. Lantos, MD, Children’s Mercy Hospitals and Clinics, 2401 Gillham Rd, Kansas City, MO 64108. E-mail: jlantos{at}cmh.edu