Abstract:
:A 38-year-old woman is diagnosed with Li-Fraumeni syndrome, an autosomal dominant genetic condition that predisposes to a variety of cancers. The woman has an 11-year-old daughter. The geneticist recommends that the child be tested for the Li-Fraumeni genetic variant. The mother is concerned about the impact of testing and diagnosis on Karen's psychological well-being. She describes Karen as "highly strung" and as "a worrier." The child has been diagnosed with an anxiety disorder and is managed by a psychologist for counseling. The child is otherwise well. The mother requests that testing be done without disclosing it to the child by adding the test on to routine blood work done for another reason and requests that the results only be revealed if they are positive. Experts in genetics, law, and bioethics discuss whether it is permissible to test the child without her knowledge or assent.
journal_name
Pediatricsjournal_title
Pediatricsauthors
Bester J,Sabatello M,van Karnebeek CDM,Lantos JDdoi
10.1542/peds.2017-2238subject
Has Abstractpub_date
2018-04-01 00:00:00issue
4eissn
0031-4005issn
1098-4275pii
peds.2017-2238journal_volume
141pub_type
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