Abstract
The newly launched BRCA Exchange website and mobile app include data on more than 20,000 unique, inherited BRCA variants. Clinicians, researchers, and patients are expected to benefit from being able to access comprehensive, quality information on BRCA variants in a single place.
Until recently, clinicians, researchers, and patients often found it difficult to determine whether a given BRCA variant was likely pathogenic. The Global Alliance for Genomics and Health (GA4GH), an international alliance including more than 500 healthcare, research, and patient advocacy organizations, seeks to rectify this situation with the BRCA Exchange, which has collected information on more than 20,000 unique, inherited BRCA variants (PLoS Genet 2018;14:e1007752).
“By having everything in one place, users can get information on more variants, more information about a given variant, and frequency information useful for classification,” says Amanda Spurdle, PhD, of the QIMR Berghofer Medical Research Institute in Australia, the article's senior author. The website, www.brcaexchange.org, has had more than 10,000 visitors from around the world in the past year, with a big uptick since its official launch in January; a mobile app is also available.
Until now, much of the information needed to classify BRCA variants had been stored in individual testing laboratories around the world, where it was not easily accessible, notes Liying Zhang, MD, PhD, of Memorial Sloan Kettering Cancer Center in New York, NY, who was not involved in creating the database.
In addition to gaining access to this information by forging new data-sharing relationships, one of GA4GH's biggest accomplishments has been determining how to combine such data and assess their quality, says Timothy Yap, MD, PhD, of The University of Texas MD Anderson Cancer Center in Houston, who was also not involved in creating the database. “We needed a central point to encourage data sharing between global centers, and to develop strategies suitable for using individual laboratory reports to assess genetic variation,” he explains. Using these strategies, GA4GH supplemented data available from some broader genetic databases, such as the Breast Cancer Information Core, ClinVar, and the Leiden Open Variation Database, with information from novel sources.
Steven Gallinger, MD, of the University of Toronto, Canada, another researcher not involved in the BRCA Exchange, notes that an increase in clinical genotyping and direct-to-consumer testing has created a pressing need for tools like this database. That's because many healthcare providers are not genetics experts, yet they are called upon to help their patients interpret BRCA variant findings. “The Exchange will help fill this knowledge gap,” Gallinger says, which is essential given that many patients may be weighing life-changing decisions related to BRCA variants, such as whether to pursue prophylactic surgery.
In addition, the database will be helpful for researchers studying BRCA variants. Zhang says that bringing all of these data together will be especially helpful for investigators seeking to better understand the effects of the relatively rare, nontruncating BRCA variants, which will ultimately improve patient care and management.
To expand the BRCA Exchange's reach, GA4GH is developing data-sharing relationships with labs worldwide. The group is also interested in incorporating additional types of data, such as the results of functional assays.
In addition, now that the BRCA Exchange has launched, GA4GH plans to use the methods and relationships it has developed in the past few years to create similar exchanges for other clinically important genes. –Kristin Harper
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