“How do I get my whole genome sequenced?,” I asked.
After a few moments of silence and a number of raised eyebrows following this question to my primary care physicians (PCP), the response was just as I thought: “Why?”
We’ve come to a point in science and medical research where the PCP should have more than a few moments of context for common ailments, including weight gain, insomnia and other acute conditions that I, and many other patients suffer from; we expect accurate answers during our checkups.
Normally, genome sequencing is ordered at a cooperative’s genomics lab, with a primary results focus on oncology. However, my PCP had no idea the intricacies of the process, or means to order such a request, outside the critical diagnosis of a condition.
The excitement level of my PCPs grew quickly with continued chatter on genomics in every day diagnostics. Yet, it was somewhat frustrating to know this excitement is stifled, as this very personal, accurate tool is not in general practice. The precision of this type of medical research should be fully accessible to all PCPs, but many still don’t have access to it for general practice.
This blog series will address several issues I have discovered as I dive into the complex and quickly changing world of bioinformatics and genomics research. As Intel pushes further to drive a more detailed medical experience into clinical environments, we are working to tackle industry hurdles as they appear. First, the following misconceptions/myths must be dispelled and overcome to help improve general practice medical care:
- Genome sequencing is only used reactively, after you have a condition
- It is a very time consuming task
- The process requires expensive high performance computing (HPC) clusters to sequence an individual’s genes
- A specialized research facility is necessary, as PCPs do not want to discuss genomics in the primary care environment
- Genome testing is non-reimbursable
- The results of a whole genome sequence (WGS) has limited utility, and are sometimes less than conclusive
What questions do you have? What other myths are you seeing in medical care?