Clifford Hodson, a 54-year-old manufacturer's sales representative from Reston, Va., took statins for elevated cholesterol, but suffered from joint pain and was often grouchy, according to his wife.
The South African native and former rugby player complained to Dr. Craig Cheifetz, an internist with the Inova Health System in Fairfax, Va., and medical director of its VIP 360° concierge medicine program. Cheifetz recommended tests through Inova Health's MediMap pharmaco-genomic testing program. MediMap currently uses test panels for six clinical categories—newborns, heart, psychiatry, neurology, cancer and surgery.
“They just do a mouth swab and 4 to 6 weeks later you get this pretty little report back,” Hodson said. Based on that genetic profile, it listed medications that might cause unwanted side effects like the ones he was experiencing. “Lo and behold, the statins are bloody dangerous for me,” Hodson said.
Cheifetz said Hodson's second drug, Rosuvastatin, was in the “caution” category. Since it wasn't “an absolute contraindication,” he halved Hodson's dosage and changed the frequency from daily to every other day. “It gives me a logical treatment plan,” Cheifetz said.
After decades of work and ballyhoo, it's finally happening. Patients, as a regular part of their care, are getting their DNA sequenced, seeing it matched against known genetically related conditions and having their medications checked for genetic suitability.
During the Healthcare Information and Management Systems Society convention this week in Orlando, Fla., Inova, several other healthcare delivery organizations and their technology partners will tout their pioneering work in clinically applied genomics. Presentations at the show include both full-day and half-day symposia on precision medicine as well as multiple stand-alone educational sessions.
At these cutting-edge healthcare organizations, precision medicine is beginning to affect patient's lives. But most of the healthcare industry is still struggling to overcome significant social, economic and technical barriers to widespread adoption of genetics-based patient care.
The stumbling blocks they face include:
• The need to train clinicians and re-engineer clinical workflows
• A lack of common data standards for genomic classification and data interoperability
• The cost of sequencing, which is falling but is still too high
• The uncertain reimbursement picture
• The inability of many health information technology systems to capture, store, move and analyze the massive new data sets that precision medicine demands
Yet the movement toward precision medicine has come a long way since work on sequencing the human genome was completed in 2003 after a 13-year, $3 billion international effort. The triumph was named by Modern Healthcare readers in 2016 as the most significant breakthrough in medicine over the past 40 years.
According to National Library of Medicine's Genetic Testing Registry, there are now nearly 10,000 conditions that can be identified using genetic tests, a twelve-fold increase from the number in 2012.