Give and Take

Researchers and patients alike are recognizing the benefits of sharing health and genomic data.

By Jeanette McCarthy, MPH, PhD

Sharing is one of those virtuous behaviors that we are taught from a young age. Share your toys; bring enough treats for everyone; give to those less fortunate.

Sharing doesn’t come easy for kids — or many scientists. Some academic scientists are reluctant to share ideas and data because it undermines personal advancement. In this highly competitive setting, scientists vie for limited research funds, and once funds are secured, they collect and analyze their data and race to publish their findings before somebody scoops them. Their promotion and tenure depend on a track record of funding and publication. For-profit entities behave similarly, where data, intellectual property, and other assets are closely guarded to maximize any potential future value.

But there is a shift happening in science and medicine, and stakeholders are increasingly recognizing the value of shared data, especially when those data are sparse or expensive to generate.

In some cases, funders are forcing scientists to share data. In August, the National Institutes of Health (NIH) updated its genomic data sharing policy, making it mandatory for federally funded researchers to post their data online in a timely fashion to facilitate access and analysis by secondary investigators. What this means is that investigators with a great idea but no dataset of their own can tap into a rich source of data from other researchers to meet their needs. As a taxpayer, that makes me feel like we’re getting our money’s worth.

In other cases, individual researchers are realizing that pooling genomic data with other scientists can improve their chances of finding genes, especially for rare diseases. In fact, sharing data between researchers is deemed so critical to moving the field of personalized medicine forward that a large consortium of over 200 stakeholders, the Global Alliance for Genomics and Health, was formed last year to address the technical hurdles for sharing genomic and clinical data. Think about the early days of the internet and the importance of standardization of data formats, which allowed interoperability and sustained growth of the web. That’s what this group is doing for genomic medicine.

Stakeholders are increasingly recognizing the value of shared data, especially when those data are sparse or expensive to generate.

Other sharing efforts, directed at patients, are highlighted in this issue of Genome. In “Open to Interpretation,” you will learn about how one group, Sharing Clinical Reports, has taken on genetic testing companies that maintain proprietary databases of patient results for BRCA1 (hereditary breast and ovarian cancer) testing. These test results, if shared, would enable a more accurate interpretation of variants found in other patients who undergo testing. Their strategy: go directly to patients and encourage them to deposit their test results in public databases.

Patients are eager to share information about their disease with other affected individuals. In “Citizen Scientists Unite,” you will hear about how patients are coming together via social media outlets to share their symptoms, treatments, and related experiences with others who have the same condition. As their numbers have grown, so has interest from pharmaceutical companies that see this as a rich resource for their research and clinical development efforts.

There are clearly some barriers to sharing genomic and health data, such as ensuring privacy, that require careful consideration. However, it is heartening to know that there is a growing desire to share, especially among patients, and that this sharing is having a positive impact on health. Maybe there is a lesson there to share with our kids.