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Sunquest Genomics

GeneInsight Clinic at Brigham and Women’s Hospital

The challenge of genetic variant classification

We use to receive new results reports via fax. Since many ordering providers share the same fax number, it required an additional step to make sure all ordering providers received a copy of the results. When it came to variant updates, we had to seek out this information from the lab. This was often prompted by a return visit to clinic or a new development in the patient’s medical or family history. We would then need to use our internal database to determine who else in this family was impacted by the variant update. This was a very slow and inefficient process—and we hadn’t even gotten to the hard work of updating everyone on the results.

I suspect that most people who order large panel tests would agree that keeping up-to-date on the current variant classification is a challenging part of genetic medicine. There may be specific events that prompt an inquiry to the genetic testing lab, but this approach is not scalable to every return patient in a busy cardiovascular genetics practice. If variant reclassifications have taught us us anything, it is that we remain tied to patients and families, and in some cases long after they stop receiving care from us.

GeneInsight Clinic: online access to results and real-time variant alerts

After installing the GeneInsight Clinic application, the new results reports are integrated directly into the electronic medical record—which then prompts an email alert. Plus, we now receive weekly summary emails that tell us what reports and updates are new for the week and what reports/updates are yet to be reviewed. Having the genetic test results and updates centralized in one easily searchable application has both improved efficiency and assured us that we have access to information reflecting the current knowledge of the genetic testing lab. The ability to search the application by clinic, instead of by ordering provider alone for all un-reviewed updates and reports, allows for easier cross-coverage.

Real time, high level alerts that help us identify updates that may require immediate action. I remember one patient who originally tested negative for a known familial variant, for which pathogenicity is now in question. We needed to re-contact the patient and advise that they resume the recommended longitudinal screening and cease to use this variant for predictive testing in the family. This was all possible because of GeneInsight Clinic. It is hard to believe that real-time variant alerts once had something other than a positive impact on the clinical care of patient and families. Fortunately, that thought is now a thing of the past.

About the Sunquest and GeneInsight collaboration

With GeneInsight and a long term collaboration with Partners, Sunquest is building a next generation genomics system that will reduce the cost and complexity of precision medicine and provide the market with an IT tool kit for implementing and integrating genomics into routine diagnostic workflows.

Allison Cirino

PROGRAM COORDINATOR, GENETIC COUNSELOR, BRIGHAM AND WOMEN'S HOSPITAL. Since 2004, Allison has served as the clinical genetic counselor and research coordinator for the Brigham and Women’s Hospital Cardiovascular Genetics Center. She is co-coordinator of the Boston University School of Medicine Genetic Counseling graduate program Research Seminar Series and a member of Partners IRB.