Genomic Sequencing: Just Another Tool in the Doctor’s Bag

Futurists are predicting that genomic sequencing will profoundly disrupt the practice of medicine! But from the stethoscope to the x-ray, medicine has successfully integrated new technologies before. Will this be different?

This is one of the questions we have been asking in the MedSeq Project, the first randomized clinical trial funded by the National Institutes of Health to explore the integration of sequencing into “everyday” medical practice. In the MedSeq Project, we are investigating whether primary care doctors can integrate findings from genome sequencing of healthy individuals into their practices, and asking what both the doctors and their patients will do with this information.

Early findings from the MedSeq Project suggest that “disrupting” medicine may be overstating the case. Our early data suggest that physicians involved in daily patient care can learn to use genomic information appropriately, and that genomic findings simply provide more data for physicians to gather and process about their patients.

Whole genome sequencing (WGS) and whole exome sequencing (WES) are still new to the practice of medicine, used mainly at this time for care of patients with cancer and to discover molecular diagnoses in patients with mysterious clinical presentations. The argument is often made that physicians outside of oncology are woefully underprepared to use these technologies in the day-to-day practice of medicine, and may resist its application. Even trained geneticists are not entirely comfortable with the use of sequencing in daily practice. Furthermore, there are fewer than 2,000 board-certified medical geneticists and just over 4,000 genetic counselors nationwide — far too few to meet the anticipated escalation of genomics in medicine.

First, in the MedSeq Project, the doctors we are studying expect to incorporate genomic information into their practices over time. “Someday it will be the norm,” one of our study subjects told —> Read More