As the largest nonprofit in the US representing and advocating for people with Down syndrome and their families, with a network of 375 NDSS affiliate groups spanning all 50 states and representing over 400,000 people with Down syndrome, the National Down Syndrome Society (NDSS) envisions a world in which all people with Down syndrome have the opportunity to enhance their quality of life, realize their life aspirations and become valued members of welcoming communities. Children and adults with Down syndrome continue to exceed expectations – individuals with Down syndrome live independently, go to college, work in competitive jobs, get married, live to their full potential and lead fulfilling lives.
NDSS is a pro-information organization, and one of our key legislative priorities is ensuring that all women and families across the country receive the most accurate, up-to-date, evidence-based information available about Down syndrome when receiving a prenatal or postnatal diagnosis of Down syndrome.
Expanding Accurate, Up-to-Date, Evidenced-Based Information on Down Syndrome Before and After Receiving a Prenatal or Postnatal Diagnosis of Down Syndrome at the Federal & State Levels
NDSS was instrumental in the passage of the bipartisan Prenatally and Postnatally Diagnosed Conditions Awareness Act (Public Law 110-374), in 2008, cosponsored by Senators Edward Kennedy (D-MA) and Sam Brownback (R-KS), which was intended to increase the availability of accurate, up-to-date and balanced information to women and families receiving a pre- or postnatal diagnosis of Down syndrome or other disabilities like cystic fibrosis and spina bifida. We know that despite the widespread availability and low cost of accurate, up-to-date, balanced informational materials (see our NDSS New and Expectant Parent Guide: http://www.ndss.org/Resources/Publications/Printed-Materials/ for an example of materials that are free, up-to-date and medically accurate), patients routinely continue to receive archaic, outdated and offensive materials from their health care providers upon receiving a pre- or postnatal Down syndrome diagnosis. Additionally, many healthcare providers neglect to provide patients with information about local Down syndrome support groups and resources. The receipt of news that a child will have Down syndrome – or any disability -- can be emotional and life-changing. Connections with local support networks composed of other parents who have “walked in their shoes” are vital to parents who are new to this journey.
In order to ensure families receive the best information on Down syndrome, NDSS’ focus at the state level continues to be on adopting Down Syndrome Information Acts across the country. Down Syndrome Information Acts require the State’s Department of Health to make information available to health care providers – who in turn, must provide to patients receiving a prenatal or postnatal diagnosis -- “up-to-date, evidence-based, written information about Down syndrome that has been reviewed by leading medical experts and national Down syndrome organizations.” This information also includes background information on physical, developmental, educational and psychosocial outcomes, life expectancy, clinical course, and intellectual and functional development and treatment options on Down syndrome, coupled with contact information for local Down syndrome support groups.
To date, the following 14 states have already passed Down Syndrome Information laws:
Local Down syndrome support groups in these states report an increase in their membership (as patients are now receiving information about local resources), and women and families are reporting better experiences in receiving their diagnosis from their healthcare providers. Healthcare providers have shared that they are grateful for the enhanced availability of the most up-to-date Down syndrome informational materials that they can share with their patients.
NDSS is actively working to encourage the remaining state legislatures to enact Down Syndrome Information laws, and provides a comprehensive legislative toolkit and resources to local Down syndrome advocates to successfully advocate for their passage. We believe that all people with Down syndrome deserve respect and equal opportunities to achieve their full potential in society, and the first step to achieve this goal is to provide accurate, up-to-date information about Down syndrome.
On the federal level, NDSS is supporting the Accurate Education for Prenatal Screenings Act (H.R. 3441), which was introduced by bipartisan Representatives Jamie Herrera Butler (WA-R) and Lucille Roybal-Allard (CA-D) in July 2015. This bill would require the Centers for Disease Control (CDC) to create and maintain education programs for patients and health care providers about cell-free DNA prenatal screenings, specifically, their purposes, risks, benefits, accuracy and limitations. In the spirit of the Prenatally and Postnatally Diagnosed Conditions Awareness Act and the state Down Syndrome Information laws, this bill would require these education programs to include information about the conditions such screenings may detect, including accurate and up-to-date information about such conditions’ clinical features, prognoses and treatments according to relevant national disability organizations and medical professional societies.
Ensuring Effective and Better Regulation by the US Food & Drug Administration of Noninvasive Prenatal Tests (NIPT) for Down Syndrome
NDSS continues to have strong concerns over the Noninvasive Prenatal Tests (NIPT) that are on the market today, which are not regulated by the US Food & Drug Administration, the gold standard of regulation in the United States. By contrast, NIPTs are Laboratory Developed Tests (LDTs), which are regulated by the Centers for Medicare and Medicaid Services' (CMS) Clinical Laboratory Improvement Amendments (CLIA) pathway. There have been identified problems with several high-risk LDTs, including NIPTs, such as: claims that are not adequately supported with evidence; lack of appropriate controls yielding erroneous results; and falsification of data. We remain concerned that women are not being told that these tests are not regulated by the FDA, and are using the "results" as a diagnostic rather than a test that requires additional screening. Further, these tests are not being coupled with the necessary and adequate genetic counseling that women and families require when going through testing and screening for Down syndrome.
NDSS is strongly encouraging Congress to provide better regulation of these tests, and is working with the FDA to ensure the NIPTs on the market are providing the most accurate and sound results - rather than the number of false positives and false negatives that are currently happening today with all NIPTs. See NDSS' comments on the Proposed LDT Regulatory Oversight Framework.