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Clinical exome sequencing vs. usual care for hereditary colorectal cancer diagnosis: A pilot comparative effectiveness study
- Source :
- Contemp Clin Trials
- Publication Year :
- 2019
-
Abstract
- Background Clinical exome sequencing (CES) provides the advantage of assessing genetic variation across the human exome compared to a traditional stepwise diagnostic approach or multi-gene panels. Comparative effectiveness research methods offer an approach to better understand the patient-centered and economic outcomes of CES. Purpose To evaluate CES compared to usual care (UC) in the diagnostic work-up of inherited colorectal cancer/polyposis (CRCP) in a randomized controlled trial (RCT). Methods The primary outcome was clinical sensitivity for the diagnosis of inherited CRCP; secondary outcomes included psychosocial outcomes, family communication, and healthcare resource utilization. Participants were surveyed 2 and 4 weeks after results return and at 3-month intervals up to 1 year. Results Evolving outcome measures and standard of care presented critical challenges. The majority of participants in the UC arm received multi-gene panels [94.73%]. Rates of genetic findings supporting the diagnosis of hereditary CRCP were 7.5% [7/93] vs. 5.4% [5/93] in the CES and UC arms, respectively (P = 0.28). Differences in privacy concerns after receiving CRCP results were identified (0.88 in UC vs 0.38 in CES, P = 0.05); however, healthcare resource utilization, family communication and psychosocial outcomes were similar between the two arms. More participants with positive results (17.7%) intended to change their life insurance 1 month after the first return visit compared to participants returned a variant of uncertain significance (9.1%) or negative result (4.8%) (P = 0.09). Conclusion Our results suggest that CES provides similar clinical benefits to multi-gene panels in the diagnosis of hereditary CRCP.
- Subjects :
- Male
medicine.medical_specialty
Comparative Effectiveness Research
Colorectal cancer
Cost-Benefit Analysis
Comparative effectiveness research
Article
law.invention
Randomized controlled trial
law
Internal medicine
Life insurance
Health care
medicine
Humans
Pharmacology (medical)
Exome
Genetic Predisposition to Disease
Exome sequencing
Aged
business.industry
Communication
General Medicine
Sequence Analysis, DNA
Health Services
Middle Aged
medicine.disease
Adenomatous Polyposis Coli
Socioeconomic Factors
Research Design
Health Resources
Female
business
Colorectal Neoplasms
Psychosocial
Confidentiality
Subjects
Details
- ISSN :
- 15592030
- Volume :
- 84
- Database :
- OpenAIRE
- Journal :
- Contemporary clinical trials
- Accession number :
- edsair.doi.dedup.....5bf95c59a18333c9f91f9dd92c0aea71