SANTA CRUZ, CA – January 8, 2019 – The BRCA Exchange, the largest public source for information on BRCA1 and BRCA2 variants, has just launched a new app designed to allow users to easily follow breast cancer variants on their smartphones. The app is available for IOS and Android, and allows users to sign up to follow multiple variants, receive and log notifications.
Genetic variants are “alterations” in germline DNA sequences, or the genetic code that describes each individual. The term “variant” is used to describe an alteration that may be benign (harmless), pathogenic (increasing risk of disease), or unclassified (unknown, generally because there is not sufficient information to assess its disease risk). Variants may also be referred to as “mutations,” which is a general term for alterations in the DNA sequence. There are mutations that you are born with, and there are mutations that you acquire during your life, from exposure to DNA-damaging agents such as solar radiation or tobacco smoke. The mutations that you are born with are known as “germline variants.”
Specific inherited mutations in BRCA1 and BRCA2 most notably increase the risk of female breast and ovarian cancers, but they have also been associated with increased risks of prostate, pancreatic and other cancers. People who have inherited mutations in BRCA1 and BRCA2 tend to develop breast and ovarian cancers at younger ages than people who do not have these mutations, and these cancers tend to be more aggressive. For these reasons, it is important for individuals who have BRCA mutations to be well-informed about them, as part of managing their risk of disease.
When users follow a variant on the BRCA Exchange app, they’ll receive push notifications whenever the clinical significance of that variant changes in the BRCA Exchange database. This means that if a user has been diagnosed with a BRCA variant that has unknown significance, they will know as soon as more information is available about the variant’s potential impact on their health.
“With BRCA Exchange, we are using global data sharing and collaboration to make progress towards improving the care of patients at genetic risk of breast and ovarian cancer. This app helps us communicate that progress more clearly,” said Dr. Melissa Cline, BRCA Exchange project lead and scientist at the UC Santa Cruz Genomics Institute. “ By doing this, we also hope to offer a replicable model for all disease genes.”
The BRCA Exchange tracks BRCA1 and BRCA2 genetic variants that have been curated by an international expert panel, the ENIGMA consortium, to assess their pathogenicity or degree of associated disease risk. Unclassified variants are awaiting expert review, and so their potential to cause diseases including cancer has not yet been established.
The app was authored by Faisal Alquaddoomi of Eidgenössische Technische Hochschule Zürich; it was developed with support from researchers Molly Zhang, Charles Markello, Mary Goldman, Brian Craft, Zack Fischmann, Joe Thomas, Amy Coffin, David Haussler, Melissa Cline and Benedict Paten at the Computational Genomics Lab at the UC Santa Cruz Genomics Institute; Faisal Alquaddoomi, Marc Zimmermann and Gunnar Rätsch at Eidgenössische Technische Hochschule Zürich, and Rachel Liao of the Global Alliance for Genomics and Health; with input and feedback from Amanda Spurdle and Michael Parsons at QIMR Berghofer Medical Research Institute, and addition support from BRCA Challenge steering committee and working groups.
Leading the charge towards international data sharing, Haussler co-founded the Global Alliance for Genomics and Health (GA4GH) in 2013. Since then, this nonprofit has worked to improve the potential of genomic medicine to advance human health. The GA4GH brings together over 500 leading institutions working in healthcare, research, disease advocacy, life science, and information technology, collaborating to create a common framework of harmonized approaches designed to enable the responsible, voluntary, and secure sharing of genomic and clinical data.
Notably, Dr. Haussler also headed the UC Santa Cruz team of the Human Genome Project, which had the honor of posting the first draft of the human genome on the Internet in 2000.
“The success of the Human Genome Project has inspired ever-more beneficial and creative genomics initiatives,” Haussler said. “The UC Santa Cruz Genomics Institute is dedicated to creating advanced technologies and open-source genomics platforms like the BRCA Exchange app, designed to shed light on the underpinnings of diseases like cancer,” he continued. “These platforms, technologies and scientists will unite global communities to create and deploy data-driven, life-saving treatments for diseases like cancer.”
You can learn more about BRCA variants and cancer risk from the National Cancer Institute’s facts page on BRCA Mutations: Cancer Risk and Genetic Testing.
About the BRCA Exchange
The BRCA Exchange is a comprehensive, global data repository to catalogue variation within the BRCA genes and to collect individual-level evidence for their classification. The BRCA Exchange is a product of the BRCA Challenge of the Global Alliance for Genomics and Health. Watch this video to learn more about BRCA Exchange, and check out Setting The Standard: The Path For International Data Sharing and BRCA Exchange: Data Sharing for the Benefit of Science and Medicine for in-depth, first-person stories.
About the Global Alliance for Genomics and Health (GA4GH)
The Global Alliance for Genomics and Health (GA4GH) is an international, nonprofit alliance formed in 2013 to accelerate the potential of research and medicine to advance human health. Bringing together 500+ leading organizations working in healthcare, research, patient advocacy, life science, and information technology, the GA4GH community is working together to create frameworks and standards to enable the responsible, voluntary, and secure sharing of genomic and health-related data.
About the UC Santa Cruz Genomics Institute
Comprised of diverse researchers from a variety of disciplines across three academic divisions, the UC Santa Cruz Genomics Institute leads UC Santa Cruz’s efforts to unlock the world’s genomic data and accelerate breakthroughs in health and evolutionary biology. Our platforms, technologies, and scientists unite global communities to create and deploy data-driven, life-saving treatments and innovative environmental and conservation efforts.
About the Baskin School of Engineering
Home to the UC Santa Cruz Genomics Institute, the Baskin School of Engineering at UC Santa Cruz offers unique opportunities for education, research and training. Faculty and students seek new approaches to critical 21st century challenges within the domains of data science, genomics, bioinformatics, biotechnology, statistical modeling, high performance computing, sustainability engineering, human-centered design, communications, cyberphysical systems, optoelectronics and photonics, and networking. By leveraging novel tools that emerge from changing technologies, we have pioneered new engineering approaches and disciplines, examples of which include biomolecular engineering, computational media, and technology and information management.
For Immediate Release
January 8, 2019
12 noon PST
Contact: Alexis Morgan