As diagnostics move away from individual tests and panels to full exome or even full genome, providers will need to understand and deal with the huge number of incidental variants of unknown significance. With this new amount of data, cloud-based repositories of genomic data will be essential. Continual updates of these data sets, along with tools to notify providers and patients will be crucial.
Interpreting genetic data creates another challenge: Interpretation of complicated and often ambiguous reports will require new ways of presenting and visualizing data. Traditionally, physicians have relied on highly trained genetic counselors to help them navigate complex reports, suggest follow-up studies and assist in communication to patients.
Unfortunately, there is a shortage of genetic counselors, and it is increasing at a potentially alarming rate. The burden on clinicians is increasing, but there is an opportunity to create automated and virtual genetic counseling to offset this challenge.
Today, the science of genomics occurs in labs, research facilities, pharmaceutical companies and clinical trial programs. But it’s not accessible in actionable, meaningful clinical terms, nor is it structured and harmonized for the patient. These stakeholders are coming together to help realize the promise of genomic knowledge. Precision medicine will have the greatest impact when it’s delivered at the point of care. It is not becoming the next direction—it is the direction, now.
Joel Diamond, MD, is chief executive officer of 2bPrecise, an Allscripts subsidiary that designs genomic data technology. Send your comments to [email protected].