2023
DOI: 10.1016/j.gim.2023.100880
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Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients

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Cited by 14 publications
(4 citation statements)
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“…Data related to diagnostic yield in patients with cardiovascular disease were collected by three sites that participated in the CSER consortium—the Program in Prenatal and Pediatric Genomic Sequencing (P 3 EGS) project at the University of California, San Francisco, 12 the NYCKidSeq project at the Icahn School of Medicine at Mount Sinai and the Montefiore Medical Center, 13 and the SouthSeq project at HudsonAlpha. 14 A brief synopsis for each study, including the patient population subgroups studied, type of testing performed, and references for the different variant interpretation pipelines, is provided in Table S1 .…”
Section: Methodsmentioning
confidence: 99%
“…Data related to diagnostic yield in patients with cardiovascular disease were collected by three sites that participated in the CSER consortium—the Program in Prenatal and Pediatric Genomic Sequencing (P 3 EGS) project at the University of California, San Francisco, 12 the NYCKidSeq project at the Icahn School of Medicine at Mount Sinai and the Montefiore Medical Center, 13 and the SouthSeq project at HudsonAlpha. 14 A brief synopsis for each study, including the patient population subgroups studied, type of testing performed, and references for the different variant interpretation pipelines, is provided in Table S1 .…”
Section: Methodsmentioning
confidence: 99%
“…This inequity is exacerbated in genomic medicine since the vast majority of research and clinical genomic sequencing to date has prioritized individuals of European-like genetic ancestries resulting in a comparative deficiency in knowledge about disease risk associated with genetic variants for individuals of non-European-like genetic ancestry [4][5][6] . This lack of diversity in control population data has repeatedly led to incorrect diagnoses 7 , missed diagnoses [8][9][10][11] and inappropriate medical management 7 for individuals of non-European-like genetic ancestry [7][8][9] . Compounding these challenges, genomic medicine can struggle to determine if identified genetic variants are harmful (Pathogenic or Likely Pathogenic; P/LP) or harmless (Benign or Likely Benign; B/LB), resulting in an exponentially increasing number of variants of uncertain significance (VUS) which are most commonly reported in individuals of non-European-like ancestry 8,[10][11][12][13][14] .…”
Section: Introductionmentioning
confidence: 99%
“…This lack of diversity in control population data has repeatedly led to incorrect diagnoses 7 , missed diagnoses [8][9][10][11] and inappropriate medical management 7 for individuals of non-European-like genetic ancestry [7][8][9] . Compounding these challenges, genomic medicine can struggle to determine if identified genetic variants are harmful (Pathogenic or Likely Pathogenic; P/LP) or harmless (Benign or Likely Benign; B/LB), resulting in an exponentially increasing number of variants of uncertain significance (VUS) which are most commonly reported in individuals of non-European-like ancestry 8,[10][11][12][13][14] . Thus, medicine urgently requires a systematic, population-scale understanding of variant classification inequities across genetic ancestries and a solution for large-scale reclassification of VUS, especially for individuals of non-European-like genetic ancestry.…”
Section: Introductionmentioning
confidence: 99%
“…The diagnostic potential of GS is underscored by the increasing evidence that it can end the so-called diagnostic odyssey for up to ~20-60% of neonates and ~17-40% of pediatric patients with a suspected genetic disease 4 . GS testing often leads to measurable changes in management, with studies suggesting that up to 77% of patients receive a change in care as a result of receiving diagnostic genome findings 5 12 . Health economic studies examining the incremental net benefit of GS in comparison to other genetic tests indicate that first-line GS can be a cost-effective strategy in patients with suspected rare diseases 7 , 9 .…”
Section: Introductionmentioning
confidence: 99%