Written Public Testimony
Andrea Williams, Executive Director, Children’s Sickle Cell Foundation, Inc.
On behalf of the Consumer Task Force on Newborn Screening

September 25, 2009

Thank you Dr. Howell and members of the Advisory Committee. My name is Andrea Williams, and I am here speaking on behalf of the Consumer Task Force on Newborn Screening. It is my pleasure to provide comments to you today on an issue we know is of high priority to the newborn screening community and has become an especially relevant model during this time of health reform.

The Consumer Task Force on Newborn Screening was established in September 2007 to ensure the integration of consumer perspectives in the planning and implementation of Genetic Alliance’s Consumer Focused Newborn Screening Projects. We are a group of nine consumers and parents who have experienced a range of newborn screening outcomes—carrier identification, false-positive screening, and typical/normal screening.

Today we examine the “roles” of players in newborn screening, specifically parents and families. We will also explore key features of a family-centered solution, the changing focus of long-term follow-up, and perspectives on funding and collaboration.

We encourage the committee to revisit the work completed by the Subcommittee on Long-Term Follow-Up, specifically two documents: first, the statement on long-term follow-up published in Genetics in Medicine in April 2008 and second, the supporting “Road Map to Implement Long-Term Follow-Up and Treatment in Newborn Screening,” the product of an April 2007 working group meeting.

We appreciate the process you underwent in April 2007 to craft the “Road Map.” It is important to make “roles” and expectations clear so that families understand to whom they can turn as they navigate the medical system. As you continue your work to clarify these roles, it is important to note the balance between the responsibility of parents to be “advocates” and the parents’ need to cope with the unfolding medical situation. Parents start as “parents” only, then progress to “parents of a medically-fragile child,” and may mature into the role of “parent advocate.” This process takes time, and families need help and support along the way. Each individual’s transformation is unique. The Consumer Task Force, composed of mature advocates, can help facilitate this process and serve as a resource to the Committee as we seek to craft this system together.

Young families typically do not anticipate (neither emotionally nor financially) having to deal with a health crisis with their newborn. It is essential that the entire family (parents, siblings, and the newborn) have support from the start. We agree that a medical home solution, which is family-centered and culturally-sensitive, is crucial to the implementation of long-term follow-up care.

The Consumer Task Force is encouraged by the balanced approach in your April 2008 statement in Genetics in Medicine. A focus on patient-centered outcomes with an emphasis on treatment, rather than only on how data moves between various entities, represents a key shift to looking at the system through the lens of the navigator. The Consumer Task Force asks that you broaden your already forward-thinking approach by expanding treatment to include information. By actively translating a wide array of information about the condition to parents and families, including features of the diagnosis, treatment options, and support systems, we create a family-centered and holistic approach to managing the condition within the family, especially in instances when the most effective treatment is uncertain.

There is also a need to ensure parents and families have the tools to process this information. In the April 2007 meeting that resulted in the “Road Map,” the working group explored roles and responsibilities for affected individuals, primary care providers, specialty and sub-specialty providers, and public health agencies. One role that was not addressed, but must be included, is the role of a provider responsible for helping families digest and interpret information from a variety of sources, including companies, advocacy organizations, care providers, and researchers, in a non-directive, non-judgmental way (for example, “Decision-Aid” programs currently used in cancer). As conditions are added to newborn screening that have no traditional treatment option or that do not have established support systems (such as disease-specific advocacy organizations), families need help wading through information and understanding the “likely outcomes” before making decisions. Such decisions made by parents overwhelmed with care demands can be incredibly stressful without support. We must work together to build structures for a transparent, honest system to promote and facilitate informed decision-making for families.

The Consumer Task Force recognizes that this narrow discussion of stakeholder needs for long-term follow-up care can feel small as diverse communities outside the newborn screening system wrestle with the pains of broken health systems. These forces affect us too—access to health insurance; disparate access to quality and timely healthcare services; availability of tests, treatments, and cures; and coverage and reimbursement for those interventions provide just a small snapshot of the forces we all face. But the newborn screening community can capitalize on a larger opportunity here: This discussion on long-term follow-up care in newborn screening is a microcosm for considering the impact of a health condition on not just an individual—but a family—and understanding how we can build a safety net for all families affected by a variety of health conditions. Long-term follow-up care must be integrated into the health reform dialogue.

The Consumer Task Force acknowledges that long-term follow-up in newborn screening requires a greater federal investment, both in funds and support. Without a collectively-renewed systemic and federal investment, we find it necessary to ask a very daunting question: Should we continue to expand a program if we do not have in place the services to support those who are identified and affected? It could be a disheartening question, but it becomes less so when we acknowledge the opportunity we have before us: long-term follow-up for newborn screening can be a model of crucial structural changes that positively impact all health systems. This can’t simply be another conversation about another program that lacks crucial funding: Seize it as an opportunity to transform health.

The Consumer Task Force values collaboration across federal agencies and advisory bodies and establishment of novel public-private partnerships. We applaud your collective effort to understand the work of these entities, and we want to underscore the importance of your continued collaboration and engagement as these agencies implement facets of healthcare reform.

To move forward, we need an open, networked approach to long-term follow-up in newborn screening that emphasizes shared infrastructure, interconnectivity, and systemic responses. As you continue to explore long-term follow-up care, we ask that you integrate parents and families—true experts on these issues—into these discussions. Thank you for the opportunity to provide comments today. I am happy to provide answers to any questions from the Committee. The Consumer Task Force on Newborn Screening is ready to serve you and the system as a resource. Please let us know how we can help.

Consumer Task Force on Newborn Screening Members

About Genetic Alliance
Genetic Alliance transforms health through genetics, promoting an environment of openness centered on the health of individuals, families, and communities. Genetic Alliance brings together diverse stakeholders that create novel partnerships in advocacy; integrates individual, family, and community perspectives to improve health systems; and revolutionizes access to information to enable translation of research into services and individualized decision-making. For more information about Genetic Alliance, visit http://www.geneticalliance.org.