SimulConsult’s diagnostic decision support platform is an innovative new resource available to institutions. Site licenses require no integration with the electronic health record, so they are quick and easy to implement. The software generates various PDF outputs that can be saved to the patient record, if desired. Use of the decision support has been shown to reduce diagnostic errors, including unnecessary referrals, by up to 75%. It is useful for many medical professionals in a variety of contexts.
What are the uses of the Phenome Analyzer and who should use it?
Attending physicians, PAs, Nurse practitioners, Genetic counselors, etc.
Medical professionals responsible for patient care use SimulConsult care in several ways:
a. Prepare for a visit. Using the software while reviewing the referral notes focuses on findings to check during the visit.
b. During visit. The software can be used during a patient visit when the history and physical do not lead to an obvious diagnosis or when the next test is not clear. This also is helpful to get contextual resources on unfamiliar findings or candidate diseases that may be relevant for the patient.
c. Summarizing a visit, including demonstrating use of evidence-based medicine. The software is helpful when writing the note that summarizes the findings and differential diagnosis, and in documenting use of evidence-based medicine to explain the need to order non-routine testing.
d. Selecting the right test to order. The recommendation on the test results that would be most useful enables the physician to reduce testing costs and sequence testing in the most efficient way possible. Particularly among younger clinicians this can result in significant cost savings. And when the differential diagnosis includes conditions with which the physician is not familiar, it helps pinpoint the right test.
e. Patient education. Once having made a diagnosis, the Prognosis Table feature provides an answer to the classic patient question of “what should I expect”. In most syndromic diseases, any particular patient will only manifest a subset of the symptoms and signs, so having a way to share the natural history of a condition is very useful.
Clinical support for trainees
SimulConsult enables trainees to reach a differential diagnosis with the accuracy of their attending colleagues, by helping them consider candidate diagnoses they have yet to learn, and by improving how systematic the trainees are when diagnosing patients.
It is a useful educational tool for students in the medical professions, because it takes the diagnostic process that is taught mainly through imitation in apprenticeships and makes that process explicit with clear components, improving the student’s diagnostic skills for all cases.
What are the uses of the Genome-Phenome Analyzer and who should use it?
As institutions bring exome and genome capabilities in-house, the Genome-Phenome Analyzer allows a particularly helpful workflow between Pathology and the referring physician. Historically, physicians have been reluctant to share much patient data with outside laboratories, and laboratories have been unwilling to share the results of their bioinformatics analysis in an annotated variant table format, preferring to provide a selective report despite not having the information to do so. See article about benefits of this approach. Once the testing is brought within the institution, however, the Genome-Phenome Analyzer provides a communication mechanism between the clinician and pathology that can maximize the rate of diagnosis.
Genome-Phenome Analyzer Workflow
1. The referring clinician uses the Phenome Analyzer to document the patient findings and shares the SimulConsult Patient Summary with Pathology. This serves as documentation of use of evidence-based medicine, and guides test selection.
2. With that information, Pathology selects the appropriate test and does the genomic testing. The results are put through a bioinformatic pipeline to generate a VCF file, which is annotated to produce an annotated variant table.
3. Before returning the genome, Pathology loads the Patient Summary and the annotated variant table, to assess if any further work needs to be done in the bioinformatics to improve the depth of read or other quality measures.
4. Pathology sends the annotated variant table to the referring clinician.
5. The referring clinician loads the Summary and annotated variant table. Often the genetic information will help highlight some rare but important clinical findings that the referring physician should check (e.g., cries without tears) to distinguish among diagnoses.
6. The referring clinician can then use the Genome-Phenome Analyzer to generate a return of results quickly with all the relevant genetic data passed to the report. The Return of Results report supports up to four simultaneous genetic conditions, identification of discovery genes, and the ACMG list of potential incidental findings.