As genomic screening costs come down, patients with rare diseases — like a 4-year-old United Kingdom girl — are getting diagnoses.
Genetic research can seem impersonal.
Researchers run the genetic information of thousands of anonymous study participants through supercomputers to look for any connection between a particular gene mutation and a given health outcome.
With millions of data points in any one person’s blueprint, comparing thousands of blueprints requires a lot of server power.
But a recent announcement from a major United Kingdom genetic research project put the focus back on people.
The parents of Georgia Walburn-Green, 4, knew something was amiss with their daughter. Though active and intelligent, Georgia kidneys don’t function well, her vision is limited by unusual lumps in her eyes, and she can’t talk.
Doctors had suspected that the problem was genetic, but Georgia’s symptoms didn’t align with any known genetic disease.
“I had no idea that it was possible to have an undiagnosed condition. I thought you get told you might have a genetic condition, you have the genetic test, and then you get the answer,” mother Amanda Walburn-Green said in a statement. “Being told that Georgia had an undiagnosed condition was one of the hardest points of our lives as we felt like we were alone.”
But based on the results of their ongoing data mining efforts through the 10,000 Genomes Project, doctors scanned Georgia’s and her parents’ genomes again. This time, they were able to identify a rare mutation on the young girl’s KDM5b gene that accounted for her symptoms.
For “patients who have previously undergone extensive evaluations with no diagnosis, whole exome or whole genome sequencing is often the approach that solves the case,” Dr. David Valle, director of the McKusick-Nathans Institute of Genetic Medicine at The Johns Hopkins School of Medicine, told Healthline.
In Georgia’s case, the diagnosis brought some good news. The genetic mutation had occurred for the first time in Georgia’s DNA. It was not inherited from her parents. For Amanda and Matt, that meant they could start thinking about having a second child.
The British work comes out of a partnership between the genetic screening company Genomics England and the National Health Service. In the United States similar research is under way through the Undiagnosed Diseases Network (UDN), funded by the National Institutes of Health.
“Often, patients have a lot of physical complaints and no objective diagnoses. Our goal is to use the latest tools to make a diagnosis that spans the clinical, pathological, and biochemical spectrum to uncover the basic genetic defect,” Dr. William A. Gahl, Ph.D., clinical director at the National Human Genome Research Institute and co-coordinator of the UDN working group, said in a statement.
So many people initially sought to be admitted to the program that the NIH expanded it this fall.
The results are beginning to trickle in. Of the first 160 patients studied, the UDN has diagnosed almost 40. Two totally new disorders were discovered and 23 rare conditions were found.
The UDN servers run at Baylor College of Medicine in Texas and the HudsonAlpha Institute for Biotechnology in Alabama, using technology provided by Illumina, a San Diego-based company. Patients go to one of seven university clinics around the country and never see the server power required to run their genetic data points.