Sharing and Understanding Data
The study aims to inform clinicians and researchers seeking answers for what to do with the additional clinical data they may find beyond the gene deletion or mutation behind a given developmental disability, Professor Parker told GEN. “Our view in the past was, ‘Well, it was possible for researchers just to say researching and clinical practice are separate, and we’re not going to take on any clinical responsibilities.
“But in the era of genomics, that seems less credible as a physician,” Professor Parker noted. “The question is, ‘What would be a reasonable position to adopt?’ It surely can’t be the case that you’d get nothing back. But also it surely can’t be the case that you’d just give raw data. You’re supposed to give all the data back to clinicians. So some judgment is going to be required.”
That judgment, Professor Parker and others in the DDD project agreed, should begin with learning how patients and their families plus health professionals, researchers, and members of the public would like to see genetic data managed. Hence the quantitative survey and follow-up interviews.
Among challenges is also the absence of a central repository for genetic data, Philippa Brice, Ph.D., a spokeswoman for the PHG Foundation, told GEN. Typically, she noted, different health trusts use locally developed systems. The National Health Service’s (NHS’) Regional Genetic Services traditionally use family-based health records, but the electronic systems between centers are often poorly interoperable.
“Clinical genetics may involve sending data between centers if different family members are seen by different clinics. There are a number of competing, commercially available pedigree drawing systems available and not necessarily uniformity between centers. There was—and probably continues to be—a problem with insufficient bandwidth and IT support for data transfer,” Dr. Brice said.
Even with optimal bandwidth, few clinicians have the skills to interpret genetic data. PHG sought to address that need in a report released last October. Next Steps in the Sequence emphasized the necessity for suitable clinical bioinformatics support and education, possibly as a whole new healthcare subprofession. “This may best be achieved through the establishment of a National Biomedical Informatics Institute, in addition to employing bioinformaticians embedded in local clinical services,” the report stated.
The institute, according to the report, would build and maintain the evidence base needed to allow clinical interpretation of genome-wide sequence data, with standardized databases of normal and pathogenic genomic variation as well as linked analytical tools. “In practice, at present, these skills are locally developed within centers of excellence,” Dr. Brice pointed out.
“Healthcare providers generally lack the expertise for accurate interpretation of genomic data, and implementation of these technologies within clinical settings will require support and education,” he added. “Decisional support systems could be used to filter out results on the basis of their relevance and clinical utility.” But there needs to be a consensus on how interpretation is done before clinicians start evaluating data, Dr. Brice asserted.