2022
DOI: 10.1101/2022.12.20.22283637
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Diagnostic yield of genetic screening in a diverse, community-ascertained cohort

Abstract: Background: Population screening for genetic risk of adult-onset preventable conditions has been proposed as an attractive public health intervention. Screening unselected individuals can identify many individuals who will not be identified through current genetic testing guidelines. Methods: We sought to evaluate enrollment in and diagnostic yield of population genetic screening in a resource-limited setting among a diverse population. We developed a low-cost, short-read next-generation sequencing panel of 25… Show more

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Cited by 1 publication
(2 citation statements)
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“…Among respondents, 61% reported being college graduates or obtaining an advanced degree, and 38% reported an income greater than $100,000. More detailed discussion about the demographics of all people invited for screening and those who enrolled is available in prior work [17].…”
Section: Resultsmentioning
confidence: 99%
See 1 more Smart Citation
“…Among respondents, 61% reported being college graduates or obtaining an advanced degree, and 38% reported an income greater than $100,000. More detailed discussion about the demographics of all people invited for screening and those who enrolled is available in prior work [17].…”
Section: Resultsmentioning
confidence: 99%
“…Details of the genetic screening research study at UWM have been described previously [17]. Briefly, adult patients aged 25–60 years were identified via the electronic health record (EHR) and invited to participate in the genetic screening of selected genes related to diseases and disorders of cancer and high lipids, for which medical interventions are available for disease prevention.…”
Section: Methodsmentioning
confidence: 99%