June 13, 2017
By Josh Baxt, BioSpace.com Breaking News Staff
For the past 10 years, genomic medicine has been long on promise but short on results. In theory, genomic sequencing, combined with intense bioinformatics, could provide a powerful new diagnostic tool to support patient care.
Unfortunately, that promise has remained just over the horizon. While next generation sequencing has had a profound impact on biomedical research, it is only slowly moving into the clinic. For every Nic Volker, one the first to benefit from a genomic diagnosis, there are thousands of patients who lack access.
There are many reasons for this. Sequencing remains expensive and the results are not always clear-cut. Research labs and academic medical centers have access to their own bioinformatics brain trusts, something the average community hospital lacks. In addition, genomics vendors use different platforms and electronic health records have trouble curating the data–who has time to search through a folder of PDF reports?
A number of surveys have shown that physicians often lack confidence in their ability to make diagnoses based on genomic data. This is no surprise, as many graduated from medical school before the Human Genome Project even started. Other are simply skeptical. They may not doubt the potential but don’t believe genomics is ready for prime time.
This last objection is largely accurate but beside the point. As Wayne Gretzky famously said: “I skate to where the puck is going to be, not where it has been.” The medical community needs to go all-in on genomics–not because of where it is in 2017 but rather where it will be in 2022.
What does it mean to embrace clinical genomics? When Illumina President and CEO Francis deSouza introduced the NovaSeq instrument this past January, he noted the platform could eventually enable the $100 genome. He wanted people to start thinking about the potential applications.
The medical community needs to help lead this revolution. Oncologists, neonatologists, neurologists, internists–what would you do with a $100 genome? How might that impact your patients?
These discussions are already happening–at conferences, grand rounds, tumor boards, etc.–and the pace is quickening. In 2013, the National Institute of Health’s National Human Genome Research Institute established the Inter-Society Coordinating Committee for Practitioner Education in Genomics to address these issues. But there’s a lot of ground to cover and patients are waiting. Medical schools must do more to embed genomics into their curriculum–not just in the first two years but start to finish. Professional organizations must help their older members get up to speed.
If the medical community waits until genomics is 100 percent ready for the clinic, they lose an opportunity to influence its form. There are many barriers to overcome, and physicians must be ready to help develop those solutions. Genomics is clinical technology and physicians should own it.
Josh Baxt has been a science and healthcare writer for more than 18 years, working at Scripps Health and the Sanford-Burnham Medical Research Institute before going freelance in 2011. He writes about molecular biology, genomics, pharmaceuticals, emerging medical technologies, regulation and public policy. He is based in San Diego.
