National Council on Disability: Genetic Testing and the Rush to Perfection

As the photo tells you, the headline is from the October 2019 publication by the National Council on Disability: “Genetic Testing and the Rush to Perfection.” You can access the full report here. The NCD makes key recommendations after surveying how prenatal testing is being done and what the future portends.

From the letter of transmittal, the report is part of a “five-report series on the intersection of disability and bioethics. This report, and the others in the series, focuses on how the historical and continued devaulation of the lives of people with disabilities by the medical community, legislators, researchers, and even health economists, perpetuates unequal access to medical care, including life-saving care.” Per its title, this report focuses on how prenatal testing plays a part in all of this.

Over 80 pages of text (100 total when endnotes are included), the report covers the following in its four chapters:

• Chapter 1: Impact of Genetic Testing on Individuals with Disabilities and on Disability Communities. This chapter features Down syndrome prominently and the impact of prenatal testing.
• Chapter 2: The Influence of Technological Advances. The business of cell-free DNA screening and the role of genetic counselors are covered in this chapter.
• Chapter 3: Healthcare System Pressures and Legal Protections and Gaps. This chapter addresses existing genetic and disability nondiscrimination protection laws and the absence of those protections pre-birth.
• Chapter 4: Finding a Way Forward Among Competing Concerns. A call for consensus to change hearts and minds to provide for more ethical administration of prenatal testing.

Throughout the book, the authors feature interviews and case studies. They speak with a staff member at the National Down Syndrome Congress; with Katie Stoll, a genetic counselor whose research and work at the Genetic Support Foundation has been featured here; and, my colleague at the National Center for Prenatal & Postnatal Resources, Stephanie Meredith is featured at length about her own diagnosis experience and the work she does at the National Center to provide accurate written information about genetic conditions.

Hopefully that brief summary will serve to spark your interest to reach the report in full or the parts that are of particular interest to you. From doing so, you’ll see both in the Executive Summary at the beginning and again listed at the end the following recommendations to improve the administration of prenatal testing to reduce its discriminatory impact on those with disabilities:

• For Congress: fully fund the Kennedy-Brownback Act AKA the Prenatally & Postnatally Diagnosed Conditions Awareness Act
• For the FDA: regulate LDTs, specifically the cfDNA labs “to establish and enforce standards for the accuracy of any claims”.
• For Centers for Medicare & Medicaid Services: recognize genetic counselors as health professionals who can receive reimbursement as an independent healthcare service.
• For State Legislatures: if cfDNA screening is funded by Medicaid, then ensure Medicaid funding for genetic counseling before and after the testing.
• For Professional Medical Organizations: include representatives from affected disability communities when crafting medical guidelines and ensure materials used for patient and provider education are vetted by a consensus group including the disability community representatives.

This is not a complete listing of all the recommendations, but the ones I highlighted.

The NCD’s report is lengthy and well-sourced. Unfortunately, that may result in some policy makers not actually reading it. But, if they still follow the recommendations and put them into law and practice, prenatal testing will be more ethically administered with less of a negative impact on those living with the tested-for conditions.