DNAdigest interviews Free the Data – Part 1
DNAdigest is happy to welcome all of you, our blog readers, into the 2015 new year! We are fresh, with recharged batteries and ready to publish new interesting posts for you.
In the first week of this, hopefully, very prolific year, we would like to introduce you to Sharon Terry (@sharonfterry). She kindly agreed on an interview for our series and will be telling us everything about Free the Data project (@FreeBRCA).
This is only the first part of Sharon’s interview… Yes! There is more! Read the second part of the interview with FreeTheData here.
Enjoy the read and in order to be the first one to know when we publish more interviews, sign up for our newsletter. 🙂
Sharon F. Terry is President and CEO of Genetic Alliance
1. Free The Data is a creation of Genetic Alliance, and still it has its own mission and goals. Could you please tell us more about this project of yours?
Free the Data has two goals: first, to increase awareness about the benefits of open access to genetic data, both within the genetics community and at large, and second, to build the commons for the BRCA1/2 genes by empowering individual men and women to share their data. Although these goals distinguish Free the Data from many other projects at Genetic Alliance, at its core, this project adheres to the same value that drives all of our work: to engage individuals, families and communities in transforming health. Building an environment where it’s not only the norm to share health data with researchers and open access databases, but also safe and easy to do so, is an essential step in moving towards better health for all.
2. When and how did you realise that creating an open searchable database of genetic variants, especially for the BRCA genes, is necessary?
My children were diagnosed with a genetic condition, pseudoxanthoma elasticum (PXE), in 1994. Though my husband and I had no scientific training (he was trained in mechanical engineering, and I was a college chaplain), we searched for and found the gene, ABCC6, in 1999. Once we knew the gene we realized that information about different variants might be important to understanding the progression of PXE, and someday, to developing allelic specific therapies. We established clinical testing and as part of our agreement with GeneDx, the company performing the testing, we collected and published all of the mutations in ABCC6 to create the first comprehensive database of variation (published and unpublished) in a gene. This experience was a defining one for me – and I have believed since then that it is critical that all variation be freely available in the public domain.
Sharon Terry’s two children were diagnosed with a genetic condition, pseudoxanthoma elasticum (PXE), in 1994.
The lack of public access to information about variants in the BRCA1/2 genes became an obvious public health issue for me when I was leading the consortium to have the Genetic Information Nondiscrimination Act of 2008 passed. It was so clear that those BRCA mutations, and their effect on the women and men who carry them, are critical in understanding the ramifications of risk and potentially the choice of therapeutic options. The stories of the women who bravely worked to understand health and disease progression moved me tremendously. And of course, I was also very much influenced by the researchers and foundations working in this area – particularly Larry Brody and his work on the Breast Cancer Information Core (BIC) at the National Institutes of Health, and Sue Friedman who founded Facing Our Risk of Cancer Empowered (FORCE). Add in the wonderful Supreme Court ruling striking down gene patents, and it made sense that Genetic Alliance’s first foray into a global ‘Free the Data’ project should be BRCA1/2.
Sharon Terry (third from right) at the 2007 Genetic Information Non-Discrimination Act (GINA) hearings. The lack of public access to data about the BRCA1/2 genes first drew Sharon’s interest when she was leading the Coalition for Genetic Fairness to pass GINA.
3. What is your role in the Free the Data campaign and how does your professional background fit it?
I lead the Free the Data coalition. This is a major organizer of the Free the Data movement, comprised of many organizations with a steering committee at its head. The members of the steering committee include representatives from genetic testing labs, clinics, advocacy groups, and more… And we are also delighted to have Representative Debbie Wasserman Schultz (D-FL) as honorary chair.
As CEO of Genetic Alliance, I work with a dynamic staff to empower individuals, families and communities to improve health by providing programs, products, tools and resources. We have a large and diverse network of disease advocacy organizations, clinicians, researchers, policy makers, and Free the Data is a critical part of that.
Another major driver for me is the passion I have for freeing all data. Since 1995, when we began the quest to find a therapy for PXE, I have became acutely aware of the need for ‘donations’ of associated genotypic and phenotypic information from empowered individuals. In that year PXE International, the foundation for pseudoxanthoma elasticum (PXE), created the first patient-led registry and biobank. As I worked on it I began to feel that it should not stand alone, and that lessons learned should be shared. In the following years we helped initiate more than 100 lay-managed registries and biobanks. Then, in 2003 we decided that it would be better to offer common infrastructure to serve many organizations’ needs for these registries and biobanks. This infrastructure was offered as a service from a nonprofit in a cooperative – all for one and one for all – and led to a partnership with the world’s most innovative participant-centric privacy solution, invented by Private Access. Together we launched an extraordinary registry platform called the Platform for Engaging Everyone Responsibly (PEER). In this cross-condition system, each individual determines his or her own data sharing, privacy and access preferences. This is very important because everyone has different sensibilities about sharing health information and they must be respected in data sharing systems. One size does not fit all in this area.
PEER is an ideal platform for Free the Data because it allows granular and dynamic sharing. It is also able to accommodate any condition or disease – the backend has more than 8,000 diseases, all on the same platform, allowing individuals to contribute information about their comorbidities. This is something that most other registries do not enable since they are, for the most part, disease-based. Thus, in addition to contributing data about breast and ovarian cancer, Free the Data participants can also contribute data about other conditions, and choose to ALLOW, DENY, or declare ASK ME for sharing de-identified data, for the use and download of data, and for being contacted.
Sharon Terry’s two children today. PXE International, the foundation for pseudoxanthoma elasticum, was founded by Sharon and her husband Pat after their two children’s diagnosis with PXE. PXE International helped drive the discovery of the gene associated with PXE, ABCC6, in 1995, and went on to create the first patient-led registry and biobank. This biobank is part of the origin of the technology behind Free the Data, the Platform for Engaging Everyone Responsibly (PEER).
My passion is to empower people to reclaim health in a way that revolutionizes access to care, and builds solutions to alleviate suffering. This project is the right blend of policy, activism and science to make change.
This was part 1 of a 2-part interview.
Are you part of a project that facilitates data sharing for genomics research? Would you like to be featured on our blog? We would love to hear from you. Drop us an email or use our contact page to get in touch.