The leading human rights organization for all individuals with Down syndrome.

National Down Syndrome Society
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NDSS Statement on NPR Story Only Human: A Birth That Launched The Search For A Down Syndrome Test

May 9, 2016 

Ms. Mary Harris


re: Only Human: A Birth That Launched The Search For A Down Syndrome Test – National Down Syndrome Society (NDSS) Response

Dear Ms. Harris:

As the largest national nonprofit in the United States representing people with Down syndrome and their families,

the National Down Syndrome Society (NDSS), we want to respond and provide feedback on your recent National Public Radio (NPR) podcast, Only Human: A Birth That Launched The Search For A Down Syndrome Test, that recounted the story of scientists Lee and Len Herzenberg’s decision to institutionalize their son with Down syndrome and their subsequent development of the scientific process of isolating fetal cells from the mother’s blood in order to analyze the risk of Down syndrome and other genetic conditions.

We regret this NPR piece failed to feature a balanced and more societal view of how individuals with Down syndrome are valued and included in all aspects of life today rather than a family who chose many decades ago to institutionalize their son. Moreover, NDSS continues to have serious concerns over the noninvasive prenatal tests (NIPTs) highlighted in your story, which include the following:

  • the lack of regulation of NIPTs - which are not regulated by the U.S. Food & Drug Administration (the gold standard of regulation in the United States)
  • the lack of information given to women and families by providers regarding the astounding misperceptions and limitations surrounding NIPTs
  • the poor action on providers who are utilizing NIPTs as a diagnostic for Down syndrome rather than what it should be used for (i.e., a screening test to determine whether more testing might be needed)
  • the failure to disseminate accurate, up-to-date information about Down syndrome before and after a woman is considering or undergoing such a screening test

NDSS is the national advocate for the value, acceptance and inclusion of people with Down syndrome. Each day, we fight for the human rights of all people with Down syndrome at the federal, state and local levels and breakdown barriers in order for all people with Down syndrome to have the opportunity to enhance their quality of life, realize their life aspirations and become valued members of welcoming communities. In 2016, individuals with Down syndrome are going to college, seeking meaningful and competitive employment, living independently, getting married and have all the opportunities to pursue their own hopes and dreams.

NIPT are Laboratory Developed Tests (LDTs), which are regulated by the U.S. 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. This is leading women to make life-changing choices based upon insufficient, biased and often archaic information that is frequently provided by the private test companies rather than national medical organizations and Down syndrome organizations.

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 FDA Proposed LDT Regulatory Oversight Framework). NDSS is also actively working to encourage the remaining state legislatures to enact Down Syndrome Information laws, and is supporting the federal 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 and Prevention (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.

Two weeks ago, there was a rider added to the House Agriculture Committee Appropriations bill, which criticizes the FDA’s draft guidance on LDTs, stating that it “circumvents the normal rulemaking process and changes expectations for patients, doctors and laboratories.”  The language then directs the FDA to suspend further efforts to finalize LDT guidance. If this Appropriations bill were to pass with this restrictive rider, then it would stall the process to regulate NIPTs as a high-risk LDT. Again, NDSS strongly believes NIPTs are high risk LDTs and should be regulated by FDA.

We commend Representative Herrera-Beutler (R-WA) for her attempt to negate this amendment by offering her own amendment to halt the committee language which stops the regulation of the underlying tests.  During the Agriculture Committee’s mark-up on April 19, 2016, Rep. Herrera-Beutler introduced her counter-amendment and explained, “I have no desire to stop innovation in the private sector or the medical community, I am a big proponent, but people need to be aware of unintended consequences. I want us to consider the implications of not allowing the FDA to regulate high-risk LDTs such as cell-free prenatal DNA screenings…About three years ago, these tests were rarely offered to pregnant women, while today these tests are almost the standard.”  Rep. Herrera-Beutler goes on to explain the inconsistencies in the ways the tests are offered and results presented to patients, and highlights reports of inaccuracies and false data.   She adds, “I want these tests to continue to grow, evolve and develop, I want to get the technology out there but this is the Wild West, and this is exactly what FDA regulation is for and needs to be there.”  Although Rep. Herrera-Beutler withdrew this amendment for procedural reasons, Rep. Rosa DeLauro (D-CT) publicly supported it by stating, “You have aptly described this process as the Wild West and the currently unregulated laboratory tests are the precipice for receiving treatment from life-threatening diseases.  Having the FDA regulate them will ensure that they are more accurate and more timely because today the LDTs do not have to report adverse events to the FDA, so we have no idea where the problems are.” 

We, at NDSS, 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. This includes information about the regulation and limitations of all NIPTs.

We would welcome the chance to discuss the matter further with NPR and view it as an opportunity to educate the public about the limitations of the tests created by the Herzenbergs and other testing companies on the market today.

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