Clinical sequencing has come a long way from being a novelty just a few years ago to becoming almost routine, the Milwaukee Journal-Sentinel reports.
When Nic Volker underwent genomic sequencing in 2009, it cost more than $75,000 to examine his exome. Further, as sequencing was considered a research tool, the team that sequenced him to pinpoint the source of his intestinal disease was considered reckless, Howard Jacob, who then headed the genomics center at the Medical College of Wisconsin, tells the Journal-Sentinel.
"When we sequenced Nic, we had trouble getting published because everyone thought we were irresponsible," Jacob, now the chief medical genomics officer at the HudsonAlpha Institute for Biotechnology, adds. "Now, I'm not going to say it's standard of care, but it's becoming much more common."
These days, patients are undergoing sequencing much earlier in the diagnostic process, the Journal-Sentinel adds. However, sequencing doesn't always yield good news or even that sought-after diagnosis, it warns, as a recent Journal of the American Medical Association study has found that sequencing leads to an immediate diagnosis only about a quarter of the time.
For instance, 18-month-old Adair Freund also underwent exome sequencing, though no cause of her heart problems, hand deformities and hip dysplasia could be found. Though her dad notes they were able to rule a number of conditions out.
Meanwhile, two-year-old Teddy Blondheim also recently underwent exome sequencing at the Medical College of Wisconsin to find that he has multiple congenital anomalies-hypotonia-seizures syndrome-1; children with the disease live an average of three years, the Journal-Sentinel notes. But the diagnosis was able to connect his families to others also dealing with the rare disease.
"To be able to connect with that Facebook group has been the best thing that came out of sequencing," Kerry Blondheim, Teddy's mother, tells the paper.