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Organization has influenced changes in research, policy, and care

As Genetic Alliance (GA) celebrated its 25th anniversary in October, its leaders pondered a transformation of genetic disease advocacy and the long list of accomplishments that have put patients and their families at the center of research, services, and changes in federal and state policies.

During interviews held just prior to and after a September celebration of the anniversary in Washington, DC, GA leaders and a medical geneticist described the organization's history and influence.

Social worker Joan Weiss, MSW, ACSW, founded the organization in 1986, after realizing that if genetic disease advocacy organizations “were to accomplish anything on the [Capitol] Hill, these groups, educators, and healthcare providers had to do it together.” This idea came from her work with advocacy groups and patients, family, and medical genetics students at Johns Hopkins University School of Medicine and Johns Hopkins Hospital. Weiss also wanted to help other parents form advocacy groups so they could get the benefits of connections with families affected by the same condition. Such connections would have benefitted her as a young mother of a son with of a congenital heart defect, Weiss says.

The organization got its start at two symposia sponsored by the March of Dimes and the Health Services and Resources Administration (HRSA). A 1983 meeting featured discussions among consumers, healthcare providers, educators, and clergy about interdisciplinary approaches to genetics. At the second meeting in 1985, participants agreed on the need for a consortium of support groups for genetic diseases. The resulting organization, then called Alliance of Genetic Support opened its first office in Chevy Chase, Maryland, in 1986 with 200 member genetic disease advocacy groups.

According to GA President and CEO Sharon Terry, GA now includes more than 10,000 health-related organizations, 1,200 of which are disease-specific advocacy groups. Terry says she benefited from the organization's assistance in her earlier advocacy days. In 1995, she established PXE International, following her two children's diagnosis with pseudoxanthoma elasticum, one of approximately 7,000 Mendelian disorders.

An Expanded Mission

  1. Top of page
  2. An Expanded Mission
  3. Information Gives Power
  4. Legislative Influence

The Alliance's original mission, helping genetic advocacy groups speak with a common voice, has continued over the past 25 years, but the its focus has broadened to include efforts unheard of in the 1980s.

Now, GA also focuses on changes to research and services, and to that end has built dozens of tools for all stakeholders, including academics, advocacy groups, policy makers, and industry, Terry says. One such tool is a registry and biobank, modeled after one Terry built for PXE International. Starting in 1995, the organization collected clinical information and biological samples, established research agendas, and worked with medical specialty groups to accelerate those agendas.

Throughout the late 1990 s, PXE International helped other disease organizations form their own registries and biorepositories, a process that involved repetitive, time-consuming steps. As a solution to this complex workflow, in 2003, PXE International leaders established a cross-disease registry and biobank with infrastructure and resources shared by multiple organizations, says Terry.

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The Alliance of Genetic Support Groups opened its first office in Chevy Chase, Maryland, in 1986 with 200 member advocacy groups.

The Genetic Alliance Registry and Biobank (GARB) now has seven advocacy organization members. Run as a cooperative, GARB provides disease organizations the necessary tools to manage collections and frees researchers from “chasing patients around the globe,” says Terry, who likens GARB to “a match-making service for researchers and patient cohorts.” GARB also helps advocacy organizations establish consumer-centered research agendas.

GARB has made GA and many advocacy groups bigger players in the research world, says Peter Byers, MD, who works with a number of groups that are part of the organization. “Geneticists recognize that if they want to understand disorders, they have to engage advocacy groups with the best link to patients,” says Byers, who is Professor of Pathology and Medicine and Adjunct Professor of Genome Sciences at the University of Washington.

Information Gives Power

  1. Top of page
  2. An Expanded Mission
  3. Information Gives Power
  4. Legislative Influence

In the 1980s, most people had neither heard of the Internet nor imagined that GA would have a major presence there, providing open access networks of information and services. Today, the organization's website offers a catalog of clinical and scientific information, with links to support groups. GA also runs, with HRSA funding, an online clearinghouse of newborn screening information called. Baby's First Test. Additionally, GA created I Navigating the Ecosystem of i Translational Research (NETS), an online; resource that explains the complex drug: development process to various stakeholders, including basic scientists and advocacy leaders whose organizations want to get more involved in translational research.

All this information gives patients and families more influence over care, says genetic counselor Diane Baker, a member of the GA board and a former president of the National Society of Genetic Counselors. Patients now “come I into relationships with healthcare professionals wanting mastery of knowledge about their conditions, and ideas about I how they want to define their relationships with healthcare providers,” she says.

Legislative Influence

  1. Top of page
  2. An Expanded Mission
  3. Information Gives Power
  4. Legislative Influence

GAs aid to those starting advocacy groups continues today as a very small part of its work, according to Terry. The organization has evolved to the point where it plays an active role in policy and legislation, and most critically, in influencing the continuum of research to health services.

That's accomplished by calling on a multitude of networks and the constituencies it services to influence policy and legislation. “We can advance a policy issue by crafting a multi-stakeholder initiative which engages industry, academia, and the public to work together,” Baker says.

Chief among such achievements is the passage of the Genetic Information Nondiscrimination Act of 2008, which outlawed discrimination based on genetic information in employment and health insurance. GA worked for more than 12 years as leader of a coalition that advocated the legislation. The organization remains active on the federal level by helping clinical researchers and advocates nominate conditions to the federally recommended newborn screening panel, Terry says.

Bringing people and organizations together is perhaps the Alliance's greatest deed, according to Baker, who praises GAs ability to convince various disease groups, medical professionals, policy makers, and businesses to join forces for common goals. “The main message of Genetic Alliance's 25th anniversary is collaboration, collaboration, collaboration. There's no way one stakeholder can figure out everything alone,” Terry says.

PATIENT ADVOCATE JANA MONACO HONORED

The Genetic Alliance's (GA) September 25th anniversary celebration in Washington, DC, featured an exhibit highlighting the work of patient advocates, researchers, and policy makers who have advanced care of genetic disorders.

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Jana Monaco

Among them is Jana Monaco, a paren advocate and key figure in influencing the 2005 Virginia legislation that put isovaleric acidemia (IVA) on the state's newborr screening panel.

Monaco has four children, the younges two of whom she terms “poster children foi newborn screening.”

Her third child, Stephen, had led a norma and seemingly healthy life until one dai when, at age three and a half, “he didn't wake up,” Monaco says. He had a metabolic crisis because of IVA, a diagnosis delivered wher he was on life support. He later emerged frorr a coma severely disabled.

Monaco's youngest child, Caroline, alsc has IVA but leads a normal life. That's because after Stephen's diagnosis, Monacc and her husband prepared themselves. Thei learned their status for the autosomal reces sive disorder and had prenatal testing thai revealed Caroline had the disorder. Shortk after birth, Caroline got medication anc dietary management to prevent acidosis.

Through OAA, Monaco says she learnec about newborn screening and how to influ ence the legislative process.

Monaco credits GA conferences with giv ing her the tools to influence the legislative process. She learned the political and policy making process, how to identify the “majoi players,” and had opportunities to speak with medical professors, researchers, anc federal officials for specific guidance.

GA is “a huge voice in arguing why newborn screening is critical in our nation” anc for providing a model for effective action or behalf of individuals with genetic disorders. Monaco says. “The Genetic Alliance operates with one voice, not as stakeholders speaking separately.”