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Patients' perceived utility of whole-genome sequencing for their healthcare: findings from the MedSeq project.

ABSTRACT: To evaluate patients' expectations regarding the perceived utility of whole-genome sequencing (WGS).We used latent class analysis to characterize individuals enrolled in the MedSeq Project based on their perceived utility of WGS. Multinomial logistic regression was used to evaluate associations between participant characteristics and latent classes.Findings characterized participants into one of three perceived utility groups: enthusiasts, who had a high probability of agreement with all utility items (23%); health conscious, who perceived utility in medically related areas (60%) or skeptics, who had a low probability of agreement with utility items (17%). Trust significantly predicted latent class.Understanding differences in perceived utility of WGS may inform strategies for uptake of this technology.

SUBMITTER: Lupo PJ

PROVIDER: S-EPMC4806392 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature

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Patients' perceived utility of whole-genome sequencing for their healthcare: findings from the MedSeq project.

Lupo Philip J PJ Robinson Jill O JO Diamond Pamela M PM Jamal Leila L Danysh Heather E HE Blumenthal-Barby Jennifer J Lehmann Lisa Soleymani LS Vassy Jason L JL Christensen Kurt D KD Green Robert C RC McGuire Amy L AL

Personalized medicine 20160108 1

<h4>Aim</h4>To evaluate patients' expectations regarding the perceived utility of whole-genome sequencing (WGS).<h4>Materials & methods</h4>We used latent class analysis to characterize individuals enrolled in the MedSeq Project based on their perceived utility of WGS. Multinomial logistic regression was used to evaluate associations between participant characteristics and latent classes.<h4>Results</h4>Findings characterized participants into one of three perceived utility groups: enthusiasts, ...[more]

PMID: 27019659

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Project description:ImportanceClinical whole-exome sequencing is increasingly used for diagnostic evaluation of patients with suspected genetic disorders.ObjectiveTo perform clinical whole-exome sequencing and report (1) the rate of molecular diagnosis among phenotypic groups, (2) the spectrum of genetic alterations contributing to disease, and (3) the prevalence of medically actionable incidental findings such as FBN1 mutations causing Marfan syndrome.Design, setting, and patientsObservational study of 2000 consecutive patients with clinical whole-exome sequencing analyzed between June 2012 and August 2014. Whole-exome sequencing tests were performed at a clinical genetics laboratory in the United States. Results were reported by clinical molecular geneticists certified by the American Board of Medical Genetics and Genomics. Tests were ordered by the patient's physician. The patients were primarily pediatric (1756 [88%]; mean age, 6 years; 888 females [44%], 1101 males [55%], and 11 fetuses [1% gender unknown]), demonstrating diverse clinical manifestations most often including nervous system dysfunction such as developmental delay.Main outcomes and measuresWhole-exome sequencing diagnosis rate overall and by phenotypic category, mode of inheritance, spectrum of genetic events, and reporting of incidental findings.ResultsA molecular diagnosis was reported for 504 patients (25.2%) with 58% of the diagnostic mutations not previously reported. Molecular diagnosis rates for each phenotypic category were 143/526 (27.2%; 95% CI, 23.5%-31.2%) for the neurological group, 282/1147 (24.6%; 95% CI, 22.1%-27.2%) for the neurological plus other organ systems group, 30/83 (36.1%; 95% CI, 26.1%-47.5%) for the specific neurological group, and 49/244 (20.1%; 95% CI, 15.6%-25.8%) for the nonneurological group. The Mendelian disease patterns of the 527 molecular diagnoses included 280 (53.1%) autosomal dominant, 181 (34.3%) autosomal recessive (including 5 with uniparental disomy), 65 (12.3%) X-linked, and 1 (0.2%) mitochondrial. Of 504 patients with a molecular diagnosis, 23 (4.6%) had blended phenotypes resulting from 2 single gene defects. About 30% of the positive cases harbored mutations in disease genes reported since 2011. There were 95 medically actionable incidental findings in genes unrelated to the phenotype but with immediate implications for management in 92 patients (4.6%), including 59 patients (3%) with mutations in genes recommended for reporting by the American College of Medical Genetics and Genomics.Conclusions and relevanceWhole-exome sequencing provided a potential molecular diagnosis for 25% of a large cohort of patients referred for evaluation of suspected genetic conditions, including detection of rare genetic events and new mutations contributing to disease. The yield of whole-exome sequencing may offer advantages over traditional molecular diagnostic approaches in certain patients.

Dataset Information

Patients' perceived utility of whole-genome sequencing for their healthcare: findings from the MedSeq project.

Publications

Patients' perceived utility of whole-genome sequencing for their healthcare: findings from the MedSeq project.

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