Alex Philippidis Senior News Editor Genetic Engineering & Biotechnology News

Genetic Alliance Promotes Engagement of Individuals, Families, and Communities

Sharon Terry went from being a college chaplain and educator to a disease advocate after her two children were diagnosed in 1994 with pseudoxanthoma elasticum (PXE).

With help from Genetic Alliance, a coalition of disease-focused support groups, Terry and her husband Patrick Terry established a research advocacy organization for the rare inherited genetic condition. PXE International holds patent rights that she assigned as one of three co-discoverers of ABCC6, the transporter gene whose mutations cause the disease, which is characterized by mineralization of connective tissue.

PXE International also built a biobank and registry, the first such resources for PXE, and the first believed to have been established by a nonscientist.

“We brought that to Genetic Alliance and said, ‘Let’s expand that to many diseases, because it’s silly for another mom and dad to have to do the same thing that we’re doing,’ ” Terry told Clinical OMICs.

Terry is now President and CEO of the Alliance, which is celebrating its 30th anniversary. In the years since her children’s PXE diagnosis, she began working closely with Genetic Alliance, serving on its board for five years—two as president—before also becoming CEO in 2004.

Terry is the third person to helm the organization. The first was Joan Weiss, a social worker and genetic counselor who founded the group in 1986 as the Alliance for Genetic Support Groups. The second, Mary Davidson, led the organization’s rebranding as Genetic Alliance, its hiring of its first on-staff genetic counselor, and its launch of numerous initiatives—notably the Genetic and Rare Diseases (GARD) Information Center, now overseen by the NIH’s National Center for Advancing Translational Research.

During its three decades, Genetic Alliance’s work has evolved from support for disease-focused support groups, to advocacy—it was a major mover behind the Genetic Information Nondiscrimination Act of 2008 (GINA)—and more recently, engagement of individuals, families, and communities intent on transforming healthcare. That includes key roles in the development of the National Patient-Centered Clinical Research Network (PCORnet), a national coalition of networks formed to support the conduct of clinical outcomes research, and the Precision Medicine Initiative.

The Alliance has grown into a network of more than 10,000 organizations, including 1,200 disease advocacy organizations, as well as thousands of universities, private companies, government agencies, and public policy organizations.

“While we were really pleased with passing GINA and getting policy work done, we could see the tools that people needed to make a difference in health,” Terry recalled. “Staying in the policy arena was not enough to serve the emerging needs.”

Connecting the Dots

Among the tools the Alliance has developed in recent years are Baby’s First Test, a website informing parents and parents-to-be about conditions for which newborn genetic screening is available, with state-specific information on available tests. Baby’s First Test is available through Expecting Health, an initiative designed to inform parents and parents-to-be about screening and testing options.

Another tool, Genes In Life, is a website and campaign combining genetic education with advocacy designed to help patients understand research breakthroughs and navigate genetic services. And Disease InfoSearch, now its own website, links users to a database with information on more than 10,000 conditions and thousands of support groups and foundations. Disease InfoSearch will soon be relaunched in expanded form, with plans to embed its data within electronic health records, patient portals, lab reports, and other online websites.

“We see Disease InfoSearch as a support tool for patient navigators that might help individuals navigate services within community health centers or hospitals, really trying to put that information where it’s most needed,” James O’Leary, Genetic Alliance’s chief innovation officer, told Clinical OMICs. “Not only do we produce educational materials and websites and apps, but we also really believe in helping people go as deep as they want, and connect the dots.”

To facilitate translational research, the organization maintains the Genetic Alliance Registry and BioBank (GARB), a centralized, clinical data registry and sample repository founded in 2003 by leaders in disease research advocacy.

GARB includes registries focused on some 40 disease areas, as well as a biobank with about 30,000 specimens managed by advocacy organizations around 10 disease groups. GARB can store DNA, RNA, tissue, cell lines, FTA cards, and other sample types upon request.

Genetic Alliance collects privacy-assured health information through its Platform for Engaging Everyone Responsibly (PEER), a customizable registry system designed to enable participants and their caregivers to share clinical information and biological specimens under access-permission rules defined by participants.

PEER, created by technology partner Private Access™ and Genetic Alliance, enables individuals and communities to determine their own data sharing, privacy, and access preferences. It collects self-reported data, HER, and has a genomics data pilot. Forty communities are using PEER to enable data collection, natural history studies, and cohort development.

PEER undergirds the Genetic Alliance-led Community Engaged Network for All (CENA), a collaborative of 10 disease advocacy organizations, University of California San Francisco, University of California Davis, and Private Access. CENA is one of 33 projects funded by the Patient-Centered Outcomes Research Institute (PCORI) to form PCORnet.

Genetic Alliance is also using PEER to collect data for the FDA’s Patient-Focused Drug Development initiative, a project funded by a grant from Pharmaceutical Research and Manufacturers of America (PhRMA).

Through a $500,000 grant from the Robert Wood Johnson Foundation awarded in December 2014, Genetic Alliance has created a “white-label” version of PEER with a simple dashboard and standard operating procedure. White-label PEER is designed to facilitate easy customization by disease advocacy and community groups wishing to offer it to their members.

“What we’re trying to do is build useful infrastructure that allows appropriate and relevant information to be embedded where people are at, including at point of diagnosis. That includes creating databases and search aggregators of information on healthcare and services, on clinical trials, on resources, on support groups,” O’Leary said. “We very much view ourselves as network builders with the capacity to create transformative infrastructure.”

The Alliance is also working to promote greater interaction between industry and advocacy or disease-focused organizations. For the past year and a half, its Advocacy Roundtable has been bringing representatives together to discuss how to surmount challenges and take the next steps toward more effective partnerships. A report with recommendations is in the works.

Engaging the Community

A longstanding relationship with Illumina has enabled the Genetic Alliance to join the sequencing giant and the San Diego Blood Bank (SDBB) in a pilot study enabling volunteer donors from the community to participate in genomics research inspired by the Precision Medicine Initiative.

Last November at Chargers Blood Drive XXXVII, an annual event that combines blood collection with wellness screening and research education, 70 preselected volunteers reflecting the San Diego region’s diversity agreed to donate a tube of blood for sequencing by Illumina. Participants were invited to learn about their results at an educational event held March 26, called Understanding Your Genome®.

“Genetic Alliance certainly helped on the donor engagement side,” Dawn Barry, Illumina vp, applied genomics, told Clinical OMICs. “Our relationship with Genetic Alliance helped us really understand how to properly engage the community in a meaningful way, to allow them to participate in the research.”

Barry said the genomes of participants were screened using the TruGenome Predisposition Screen, a test marketed since 2012, and conducted for the study at Illumina’s clinical lab in San Diego. The screen included analysis and interpretation of 1691 genes that have well-established associations to 1,232 conditions published in research literature, as well as 11 genes associated with response to drugs.

The genomics study saw a high level of interest from would-be donors, SDBB CEO David Wellis, Ph.D., told Clinical OMICs. Ten minutes after the blood bank sent out an email promoting the study to its donor community, 300 people signed up. That number swelled to 10,000 by the weekend of Chargers Blood Drive.

“Once we decided to do the pilot, we wanted to make sure we did it right, so we engaged a number of partners, through many introductions with Illumina, to experts in consent and in return of results,” Dr. Wellis said. “Genetic Alliance has been working in this area for a long, long time, and has so much experience that they were just a natural partner to work with.”

Insights from Sharon Terry


The Day the President of the United States Said “That Data is Mine”

Genetic Testing and the Workplace

To Pay or Not to Pay? Is That the Question?

Benefits and Risks of Sharing Genomic Information

NIST RM 8398: Standardizing Discoveries

Excerpted from Genetic Testing and Molecular Biomarkers

Source: Wikicommons/Rick Guidotti

This article was originally published in the May 2016 issue of Clinical OMICs. For more content like this and details on how to get a free subscription to this digital publication, go to

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