Biomedical subjects

Viji Venkataramanan

Publications and source records attributed to Viji Venkataramanan.

3 recordsLinked to original sources

PubMed2025

Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial.

PURPOSE: Exome sequencing (ES) and genome sequencing (GS) can improve rare disease diagnosis but are not routinely available in many jurisdictions. To inform implementation, we report on a randomized implementation effectiveness trial comparing ES and GS. METHODS: Eligible trios were randomized to receive ES or GS in the same clinically accredited laboratory. Patient-level data on diagnostic utility and turnaround times were collected. Outcomes were compared statistically between clinically important subgroups. RESULTS: Of 1048 patients, 68.5% had syndromic intellectual disability/developmental delay (ID/DD) and 20.5% had multisystem disorders without ID/DD. Most had prior genetic test(s) that were nondiagnostic (95.5%), and of these, 91.6% included chromosome microarray. Diagnostic yields were 33.8% and 33.6%, for ES (n = 526) and GS (n = 522), respectively. Within sequencing groups, diagnostic results were more frequent among those with ID/DD than those without (P < .005). For routine (ie, nonexpedited) patients (n = 1020), 87.0% were reported in <12 weeks, and the mean turnaround time was 55.5 days (SD: 24.0). Turnaround time for ES and GS did not differ; however, result type (P < .001) and age of onset (P < .005) significantly affected turnaround time. CONCLUSION: Findings provide robust evidence of diagnostic utility and timeliness of ES and GS and will inform policy related to the organization, delivery, and reimbursement of clinical-grade genome diagnostics for rare diseases.

Adolescent↗

PubMed2025

A microcosting and cost consequence analysis from a randomized controlled trial comparing genome sequencing with exome sequencing for genetic diagnosis.

PURPOSE: Diagnosing rare diseases is costly. The objectives were to microcost exome (ES) and genome sequencing (GS) trios and estimate the incremental costs of GS per additional diagnosis from an institutional payer perspective. METHODS: Trios (proband plus biological parents) that are referred for sequencing were randomly assigned to ES or GS. Laboratory workflow and sequencing were microcosted. Total and category cost per trio were estimated probabilistically. Effectiveness was expressed as diagnostic yield (rates of diagnostic or partially diagnostic variants detected). Incremental costs and effectiveness were calculated. RESULTS: The mean total cost per trio was CAD 2888.79 (95% CI 2567.72, 3492.72) for ES (n = 329) and 4364.02 (95% CI 3984.94, 5013.67) for GS (n = 324). Reagents accounted for 34% and 61% of total costs for ES and GS, respectively. The incremental cost of GS was 1475.23. The diagnostic yield was 35.9% for ES and 32.7% for GS with a difference of 0.032 (95% CI: -0.041, 0.104, P value .397). CONCLUSION: GS demonstrated higher costs and a similar diagnostic yield to ES but was limited by technical capabilities at the time of the study. The study provides comprehensive costs for the economic evaluation comparing alternative diagnostic pathways and impetus for further evaluating variants uniquely detectable by GS.

Humans↗

PubMed2006

Expectations of recovery from revision knee replacement.

OBJECTIVE: To evaluate outcome expectations of patients undergoing revision total knee replacement (TKR) and to examine personal factors, patient functioning, previous experiences with knee replacement surgery, concerns about surgery, and general health as predictors of expectations. METHODS: Revision TKR patients (n = 184, 54% women; mean age 69 years) completed a questionnaire up to 2 weeks before surgery. This included demographics, experience with previous knee surgery, concerns about surgery, the Life Orientation Test (LOT), the Arthritis Helplessness Scale, the Western Ontario and McMaster Universities Osteoarthritis Index, and a rating of overall health. Outcome expectations were evaluated as 5 questions assessing global benefit; relief of pain; ease of disability; expectations of having complications; and whether the person expected to be fully recovered from surgery in <6 months, 6-12 months, >12 months, or did not expect to recover. Predictors of each of the 5 outcome expectations were evaluated using univariable and multivariable regression analyses. RESULTS: Expectations are a multidimensional construct (Cronbach's alpha = 0.63). Expectation of global benefit of surgery was high, but was lower for benefits related to ease of pain and improved function. Concerns about surgery were a consistent predictor of all expectation outcomes in multivariable modeling. When concerns about surgery and general health were entered into the model as an interaction with expectation of recovery time as the outcome, past experience (P = 0.05), pain (P = 0.03), LOT (P = 0.03), and interaction between concerns about surgery and general health were significant predictors. CONCLUSION: Clinicians need to understand and help patients shape appropriate expectations for recovery from revision TKR.

Adult↗