Services
Genomic Interpretation and Reanalysis
Expert review of existing exome and genome sequencing data
Whole-exome sequencing (WES) and whole-genome sequencing (WGS) may generate extensive genomic findings without providing a clear clinical answer. An initial report can be inconclusive because of limitations in variant annotation, phenotype information, interpretation methods, or scientific knowledge available at the time of analysis. Careful reanalysis may help identify additional findings that merit clinical evaluation.
WAGEM is exploring a pathway for clinicians and individuals to obtain information about genomic interpretation and reanalysis services provided through independently operated U.S.-based resources, initially focusing on North America. The services themselves would not be performed by WAGEM.
Expertise
Areas of expertise
WES/WGS data reanalysis
Reassessment of existing genomic data and prior findings in light of updated annotations, clinical characteristics, and current scientific evidence.
Phenotype-guided clinical genomic interpretation
Assessment of candidate variants and genes in relation to clinical presentation, inheritance, available evidence, and differential diagnosis.
Pharmacogenomic interpretation
Review of genetic findings relevant to medication selection and dosing, with consideration of established gene–drug guidance and clinical context.
Professional case discussion
Discussion of selected genomic findings with treating clinicians to help clarify interpretive limitations and options for further evaluation.
Who may benefit?
Potential inquiries include physicians evaluating patients with unresolved or rare disorders; clinical teams seeking a second review of existing sequencing findings; and individuals who already possess WES/WGS results and seek information about whether reanalysis may be appropriate.
Process
How inquiries would work
- An interested physician or individual requests general information using the designated contact link.
- The independent U.S. service provider reviews the inquiry, determines whether the requested work is appropriate and available, and explains the applicable scope, requirements, and fees.
- If the service proceeds, genomic files and clinical information are transferred only through an approved secure process operated by the service provider—not through WAGEM’s public website or general email.
- Findings are returned in a report or professional consultation, as appropriate to the engagement, with limitations and any needs for clinical confirmation made clear.
Genomic reanalysis does not guarantee a diagnosis. Computational interpretation is not a substitute for clinical assessment, and relevant findings may require confirmation in an appropriately qualified laboratory. Medical consultations, where offered, are subject to applicable licensure and other requirements.
Important: WAGEM is not the laboratory or medical-care provider.