The International Standards for Cytogenomic Arrays consortium has changed its name to reflect new collaborations with laboratories that rely mainly on next-generation sequencing, as well as with clinical geneticists for whom data interpretation and counseling, rather than technology, is paramount.
ISCA co-founder Christa Lese Martin told BioArray News that the organization will now be called the International Collaboration for Clinical Genomics to reflect this widened focus.
"The name change was needed to incorporate the group's entire effort, including the sequencing community, and to be more representative of the work of the clinical geneticists, physicians, and counselors," said Martin, who is operations director at Emory Genetics Laboratory. "We chose [the name] Clinical Genomics to be all encompassing," she said.
Martin, together with David Ledbetter and other cytogeneticists who had adopted microarray technology, founded ISCA in 2007. Though one of ISCA's earlier objectives was to agree on a consensus design for arrays used in constitutional cytogenetics, the consortium blossomed into a data-sharing effort, as geneticists worked to link high-resolution array results with phenotype (BAN 4/3/2012).
According to Ledbetter, chief scientific officer at Geisinger Health Systems, that issue of linking copy number variants to phenotype is "identical" to the issues facing the sequencing community in determining the clinical significance of sequence variants.
"This makes perfect sense, as both sequence variants and CNVs are simply two classes of mutations, not different scientific or medical fields," Ledbetter told BioArray News this week.
In addition, the group wants to be accessible to clinical geneticists, who will be reporting array and sequencing findings back to patients and, in some cases, using that information to select treatments or therapies. Having one organization, argued Ledbetter, would better serve their needs.
"The boundaries between cytogenetics diagnostics labs and molecular genetics labs continue to blur, and for the clinical genetics community it makes sense to have a single, unified database and source of information on clinically relevant variants no matter the mechanism of mutation," he said.
The newly named ICCG will be meeting at the American Society of Human Genetics meeting in San Francisco next month. Topics to be discussed include engaging with specialty genetics providers to collect data on variants in BRCA1 and BRCA2; ethical issues in clinical genomic data sharing; and resources from the National Center for Biotechnology Information for genomic variant interpretation.
"The main purpose of the organization is still the same," Martin noted, "to have a unified database with associated curation and evidence-based resources to set the standards for quality in clinical genomic testing."