This article is more than 5 years old. Information may no longer be current.
Web portal speeds the diagnosis of patients with skeletal dysplasias
Portal connects dysplasia researchers and clinicians who treat patients with these genetic disorders throughout the European Union.
Click Here to Manage Email Alerts
A European Web portal now links eight institutions in six European Union countries so that doctors may better diagnose and study skeletal dysplasias. These are rare genetic bone disorders affecting bone and cartilage formation.
Currently little can be done to treat them.
The portal, which is a project of the European Skeletal Dysplasia Network (ESDN), is helping to improve patient diagnosis, said Jacky Taylor at the National Genetics Reference Laboratory in Manchester, England, administrator for the Web portal project.
The portal allows clinical geneticists to submit a patient’s case online for specialists at participating centers to review. To date, the specialists have reviewed 225 cases this way.
Case review
|
COURTESY OF THE UNIVERSITY OF MANCHESTER |
Jacky Taylor, of the National Genetics Reference Laboratory in Manchester, England, said the Web-based case management system “overcomes geographical barriers and brings together the scarce clinical resources for these rare conditions.”Submitting a case is a multifaceted process. It includes several steps, from getting informed consent from the patient and his or her family to posting digitized radiographs and other pertinent case information at the Web site, according to Mike Briggs, PhD, a molecular biologist who heads the eight centers partnering on the project. Two of the centers are in the United Kingdom at The University of Manchester and The University of Newcastle-upon-Tyne. The rest are in Gent, Belgium; Oulu, Finland; Paris; Lausanne, Switzerland; and Mainz, Germany.
Once a case is submitted, experts confer online through an electronic discussion forum to reach a consensus on the clinical diagnosis and/or alternate diagnoses. DNA is subsequently obtained from the patient and sent to one of the centers working on the suspect gene or its aberrations. Researchers are studying nearly two dozen of these different diseases at the participating sites.
Genetic biologists then arrive at a molecular diagnosis, hopefully confirming the clinical one. However, if no mutation is found, “the DNA might be stored with patients’ informed consent until a relevant test becomes available,” Briggs said.
The system also provides the feedback to the clinician who submitted the case, he added.
“The clinical review process and direction of DNA studies are done through our Web management system,” said Briggs, who is at the Wellcome Trust Centre for Cell Matrix Research at The University of Manchester.
Participants expect this process to eventually improve the efficiency of skeletal dysplasia diagnosis and aid ongoing research projects. “There is no one center with all the necessary experience or facilities to cope with the molecular diagnosis of so many types of bone disorders,” Taylor said in a press release.
“There are more than 200 different kinds of complaints ranging from mild to life-threatening, so many nonexperts face significant problems identifying which condition their patient has,” she said.
However, there are 29 specific skeletal dysplasias for which a molecular diagnosis is available through the ESDN and several others currently under development.
Access panel of experts
Briggs told Orthopaedics Today the portal does not replace the usual biannual scientific meetings of the International Skeletal Dysplasia Society that these experts attend.
“ESDN is more of a diagnostic network. We try to provide clinical and molecular diagnosis for the patients,” Briggs said.
“Because these [cases] are so rare, you wouldn’t expect every clinical geneticist in Europe to have even seen a patient with skeletal dysplasia. That’s why it’s important for them to be able to submit a case to a panel of experts. We have eight experts that, together, must have more than 100 years’ worth of experience in diagnosing these conditions.”
Surgeons using the portal have been inspired to do new research, he said. Members of the Paris and Gent group have already identified new genes and published their research findings.
“In fact, in one case, a patient referred to the network had a microdeletion in one of their chromosomes that helped the Gent group map the gene a lot quicker,” said Briggs, noting this case was recently published in Nature Genetics. Furthermore, “We can use patient referrals to advance the field by identifying additional genes and mutations that can cause these diseases.”
In the three years since the portal started, 1500 patients have been referred to ESDN, Briggs said. The European Commission (EC) provided the initial funding. This year, the ESDN group is looking to renew its funding and possibly expand the network to include such EU candidate states as Turkey.