{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T13:39:41Z","timestamp":1758893981678,"version":"3.40.5"},"reference-count":11,"publisher":"American Academy of Pediatrics (AAP)","issue":"Supplement_1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2019,1,1]]},"abstract":"<jats:p>Ethical controversies may arise when genome sequencing reveals a genetic variant that is thought to be pathogenic, but the patient has no symptoms. This could be due to variable penetrance or expressivity. It could also result from a misclassification of the gene as pathogenic. In this article, I analyze 2 possibilities when such a situation occurs. The first is straightforward. We could conclude that the sequencing results should be considered a \u201cfalse-positive\u201d test result. The second is a bit more counterintuitive. In some cases, we could consider the test result to be a true-positive but in way that has not yet led to phenotypic findings. Somewhat playfully, we imagine that, in such cases, we could consider the patient\u2019s phenotype to be falsely negative. Sometimes, as odd as it seems, we act is if that is what we believe.<\/jats:p>","DOI":"10.1542\/peds.2018-1099g","type":"journal-article","created":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T14:35:21Z","timestamp":1546353321000},"page":"S33-S36","source":"Crossref","is-referenced-by-count":6,"title":["The False-negative Phenotype"],"prefix":"10.1542","volume":"143","author":[{"given":"John D.","family":"Lantos","sequence":"first","affiliation":[{"name":"School of Medicine, University of Missouri-Kansas City and Children\u2019s Mercy Bioethics Center, Kansas City, Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2019,1,1]]},"reference":[{"issue":"2","key":"2021120906431460800_B1","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1111\/cge.13370","article-title":"Refining the phenotype associated with biallelic DNAJC21 mutations.","volume":"94","author":"D\u2019Amours","year":"2018","journal-title":"Clin 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