Even when we sequence their whole genome, we make a diagnosis in only a minority of our patients.
A major factor is how current genomic diagnostic processes fail to foster what should be a central role of the clinician in the diagnostic process.
The clinician typically provides only sparse phenotypic information about the patient to the diagnostic laboratory.
In return, the clinician receives complex and frequently ambiguous results from the laboratory for interpretation.
Care providers have only one chance to convey limited phenotypic information, often unstructured.
There is no opportunity for dialogue between the laboratory and the clinical care team based on findings in the genomic sequence.
GenomeDiver enhances the ability of the clinician to diagnose genetic conditions.
Using the patient’s genomic information and indication for testing, GenomeDiver lists the phenotypic features most likely to help diagnostically.
The clinician categorizes this list of phenotypic features as Present, Absent or Uncertain in their patient.
This enhanced phenotypic information is used to re-prioritize variants, allowing candidate genes and diseases to be assessed by the clinician.
The updated, enhanced phenotypic information and the clinician’s assessment are returned to the diagnostic laboratory to help develop a final report.
Insights into the four steps from data to diagnosis.
What the clinician sees when they use GenomeDiver.
GenomeDiver was developed with NIH support (NHGRI and NIMHD) as part of the CSER consortium at our NYCKidSeq Center, involving development by Einstein-Montefiore, the NY Genome Center and Icahn School of Medicine at Mount Sinai.
2021 Genetics in Medicine (in press, preprint available)
GenomeDiver software availability
Open source, available on GitHub