Measuring the real-world impact of genomic testing
Beyond diagnostic yield, the true value of exome and genome sequencing
lies in measurable clinical outcomes: shortened diagnostic odysseys,
targeted therapeutic interventions, informed reproductive planning, and
improved patient understanding of their condition.
4
Measurement Domains
0
Efficacy Entries
16
Core Metrics
Clinical efficacy in genomic medicine extends beyond the laboratory result.
A comprehensive assessment requires evaluation across multiple domains,
from diagnostic yield and turnaround time to patient-centered outcomes
and long-term clinical utility.
The SequenceMedicine efficacy framework organizes measurement into four
complementary categories, each capturing a different dimension of clinical
value.
Diagnostic Yield Across Organ Systems
Published yield ranges for genetic testing by organ system.
Green bars indicate strong evidence; gray indicates emerging.
Genetic Testing vs. Other Diagnostic Modalities
Average diagnostic yield comparison across common approaches for undiagnosed rare disease patients.
Evidence Coverage
Distribution across 22 organ systems
Projected ROI Timeline
Modeled cost avoidance for a CarePathway pilot program
Strong-Evidence Systems Summary
Nine organ systems with robust peer-reviewed diagnostic yield data — the launch candidates for CarePathway implementation.
Four domains of clinical efficacy assessment for genomic testing
Outcome Measures
Direct clinical impact metrics that capture the downstream effect of
a genomic diagnosis on patient care and clinical trajectory.
Diagnostic yield — Proportion of tested patients receiving a molecular diagnosis
Time to diagnosis — Duration from clinical suspicion to definitive molecular result
Management change rate — Frequency of treatment modifications prompted by genomic findings
Diagnostic odyssey reduction — Decrease in unnecessary procedures and referrals after diagnosis
Process Measures
Operational and workflow metrics that reflect the efficiency and
integration of genomic testing within clinical practice.
Test turnaround time — Duration from sample receipt to reported result
Clinical actionability rate — Proportion of results leading to specific clinical interventions
Cascade testing uptake — Rate of at-risk family members undergoing recommended testing
Pre-test counseling completion — Proportion receiving genetic counseling before testing
Quality Measures
Analytical and interpretive quality metrics that ensure the accuracy
and clinical relevance of genomic test results.
Variant classification accuracy — Concordance with expert consensus and ClinVar assertions
Reanalysis yield — Additional diagnoses obtained through periodic data reinterpretation
VUS resolution rate — Proportion of variants of uncertain significance reclassified over time
Incidental finding management — Appropriate handling of ACMG secondary findings
Patient-Reported Measures
Patient-centered outcomes that capture the personal and psychosocial
impact of genomic testing on individuals and families.
Patient satisfaction — Reported satisfaction with the testing and results disclosure process
Genomic understanding — Post-test comprehension of results and their implications
Psychosocial impact — Effect on anxiety, uncertainty, and family planning decisions
Decisional regret — Long-term patient assessment of the decision to undergo testing
Sample Entries
Efficacy Data Preview
Illustrative examples of how efficacy data will be presented across measurement domains
Preview Format
Diagnostic Yield of Exome Sequencing in Pediatric Neurodevelopmental Disorders
Neurology / Neurodevelopmental
Outcome
Retrospective analysis of 500 consecutive pediatric patients referred for
exome sequencing due to unexplained intellectual disability, developmental
delay, or autism spectrum disorder. Assessed diagnostic yield, time to
diagnosis, and subsequent management changes.
37%
Diagnostic yield
4.2 mo
Median time to Dx
53%
Management changed
6.1 yr
Odyssey reduced by
Rapid Genome Sequencing Turnaround in Critically Ill Neonates
Neonatology / Critical Care
Process
Implementation analysis of a rapid genome sequencing program in a level IV
NICU, evaluating turnaround time, clinical actionability, and downstream
cascade testing in families of diagnosed neonates.
72 hr
Median TAT
61%
Clinically actionable
78%
Cascade testing uptake
Systematic Reanalysis Yield in Previously Negative Exome Cases
Multi-system / Reanalysis
Quality
Systematic reanalysis of 1,200 initially non-diagnostic exome sequencing
cases after a median interval of 24 months. Evaluated new diagnoses driven
by updated gene-disease associations, improved variant classification,
and expanded phenotype data.
12%
Reanalysis yield
18%
VUS reclassified
24 mo
Median reanalysis interval
Efficacy Data in Development
We are actively curating clinical efficacy data from published studies,
institutional outcomes reports, and systematic reviews. Entries will be
populated using the measurement framework described above, with each
data point linked to its source literature and associated organ system
indication.
Data Curation Methodology
Source Selection
Peer-reviewed publications, institutional outcome registries, and
multi-center collaborative datasets with documented methodology
and adequate sample sizes.
Evidence Grading
Each efficacy entry is assigned an evidence tier (strong, moderate,
emerging) based on study design, sample size, and reproducibility
consistent with the SequenceMedicine evidence framework.
Clinical Review
All entries undergo clinical review to ensure that metrics are
properly contextualized, potential confounders are noted, and
applicability to current clinical practice is assessed.