Project Overview

The Congenital Conditions Program focuses on connecting families who receive a diagnosis for their child prenatally or within the first year of life with information and support. These families face unique challenges. Therefore, families, as well as providers, need access to accurate, up-to-date, unbiased, quality information to make informed decisions regarding both immediate and future concerns that will impact all aspects of life for the child and his or her family. Referrals to appropriate providers and support groups are also instrumental in helping families understand the diagnosis and coordinate care.

Beginning with the three conditions named in the Prenatally and Postnatally Diagnosed Conditions Awareness Act—Down syndrome, spina bifida, and dwarfism—this program will develop sustainable models to inform the system of care for these and other conditions diagnosed during this time period. The program engages a range of family groups, clinicians and other health information providers to increase communication and collaboration among stakeholders. The tools created or modified through this project will serve to enhance current efforts to connect families with the information they need to care for their relatives with a congenital condition.

Recent Progress

During the first year of the project, from 2009 to 2010, we solidified relationships with existing organizations focused on aiding individuals with early onset conditions or disabilities and their families. We established a working group comprised of key individuals in the Down syndrome community to provide guidance on project activities, including the development of point-of-care materials and a salon on best outcomes. The working group also helped evaluate resources available through the Genetics and Rare Diseases (GARD) Information Center.

In the second year of the project, we established working groups for spina bifida and dwarfism stakeholders to continue the work on condition-specific materials and the development and enhancement of cross-condition resources and support systems. We also began developing three publications: one guide to prenatal screening and diagnostic tests and two compilations of stories. The first will focus on receiving a diagnosis of a congenital condition; the second will explore how having a family member with a congenital condition impacts one’s advocacy path.

Funding for the project officially ended in August 2011. However, we are committed to completing the deliverables and disseminating them to the broader community. Throughout the remainder of 2011, we will work to finish the writing and printing of the guide to prenatal screening and testing, two compilations of stories, and the GeneFacts fact sheets for the three conditions. In early 2012, we will begin disseminating these materials and raising awareness of them within the congenital conditions and broader disability communities.

Additional Resources

• Genetic Alliance and Partners Awarded HHS HRSA Congenital Conditions Program – The full press release describes the details of this cooperative agreement.
• Prenatally and Postnatally Diagnosed Conditions Awareness Act – The full text of the final bill is available online at the Library of Congress.
• The Congenital Conditions Program: From Legislation to Implementation – This webinar provides a behind-the-scenes look at the development of the legislation, reviews the public health and health services framework underlying the Congenital Conditions Program, and presents the project progress and future plans.
• Children With Down Syndrome: Families Are More Likely to Receive Resources at Time of Diagnosis Than in Early Childhood – This report by the Government Accountability Office investigated the effectiveness of current health care and family support programs for the families of children with disabilities, specifically Down syndrome.

For more information on the Congenital Conditions Program, contact us at info@geneticalliance.org.

This project is funded by the Health Resource and Service Administration (HRSA), Grant no. U35MC16451, Translating Medical Genetics to Services. The content of this webpage is solely the responsibility of Genetic Alliance and does not necessarily represent the official views of HRSA.