Getting personal, genomically speaking

10 June 2016

In an article in Science, the Global Alliance for Genomics and Health (GA4GH) has reported on its global clinical and genomic data-sharing initiative.

Established in 2014, the project aims to accelerate the potential of genomic medicine by providing clinicians and scientists across the world access to data on genetic diseases and cancer.

At present it counts more than 400 organisations and more than 700 individuals in its membership, including the Murdoch Childrens Research Institute (MCRI).

Major national initiatives such as the US Cancer Moonshot, Genomics England, Genome Canada, H3Africa and the Australian Genomics Health Alliance (AGHA) are pooling their expertise and data through the Global Alliance.

The article details the alliance's vision for responsible and effective data sharing, which aims to enable clinicians and scientists to make best use of the millions of genome sequences that currently sit in siloed databases around the globe.

Through the rapid advancing field of genomics, an individual's complete set of genetic information, known as the genome, can be used to identify changes that may impact on health.

This has great potential for a personalised treatment and management of conditions.

The alliance has already led to a number of advances, such as a standardised application programming interface (API) which allows disparate technology services of institutions around the globe to communicate with one another to exchange clinical and genetic information.

To break down global barriers, the GA4GH's Beacon Project has developed an open-ended approach to sharing data across the internet. It has also established an international collaboration among breast cancer genetics experts called the BRCA Challenge, and a peer-to-peer network of clinicians, Matchmaker Exchange.

However, significant challenges remain to the sharing of data across national and institutional boundaries.

There are millions of genome sequences generated around the globe, to which laboratory and clinical investigators will need more effective means of access, regardless of where the data are stored. The alliance is addressing this through a series of projects described in the Science report.

The MCRI plays a prominent role in the GA4GH. Its director Professor Kathryn North is a co-chair of the GA4GH Steering Committee and she chairs the alliance's Clinical Working Group.

Together with MCRI's Professor Andrew Sinclair, Professor North also leads the AGHA, which provides an international benchmark for the integration of genomics into a national healthcare system.

Story based on a press release by the Murdoch Childrens Research Institute