Federal study finds unregulated genetic testing industry fails to provide balanced view of disability; calls on FDA, FTC for oversight

For Immediate Release  

WASHINGTON – Today, the National Council on Disability (NCD) released the findings of a federal review of the impacts of genetic testing, and particularly prenatal genetic testing, on people with disabilities and communities.

Genetic Testing and the Rush to Perfection presents areas for concern in the highly dynamic, profit-driven field of genetic testing, including:

• Genetic counselors with inadequate training in disability cultural competence;
• Potential conflicts of interest on the part of genetic counselors employed by private commercial genetic testing entities;
• Genetic counseling as a profession remaining unrecognized by the Centers for Medicare and Medicaid Services (CMS) as a profession that can independently bill; and
• Private entities that hold genetic information about fetuses and their parents, raising confidentiality and information use concerns.

“Genetic testing offers the world an abundance of information, but that information isn’t often contextualized with lived experience,” said NCD Council Member Jim Brett. “Ensuring the entire process of genetic testing – recommending it and interpreting it – doesn’t perpetuate misinformation about disability is key.” 

Scientific and medical advances in prenatal genetic testing, and particularly the discovery of Noninvasive Prenatal Screenings (NIPS) as early as nine weeks into a pregnancy, have made prenatal genetic testing more commonly available to women of different ages, socioeconomic backgrounds, and health histories. However, in Genetic Testing and the Rush to Perfection, NCD asks how more and more fetal genetic information, and particularly information that is incomplete, not fully accurate, nor consistently predictive, actually helps families make informed choices.

Conflicts of interest in the genetic testing industry are fueled by steep competition and for-profit pressures that place a premium on reducing time providers spend with individual consumers. Many genetic counselors are provided by the genetic testing company, not the clinic, and work with doctors ordering the tests, not patients. This creates the dilemma of selling versus counseling tests.

NCD’s research revealed the context of testing is fraught with bias and a lack of information, and screenings are performed with a lack of accompanying counseling about the tests and what the outcomes mean.

“These tests and the way they’re talked about weigh heavily on decisions families make,” said Mr. Brett. “We have a responsibility to ensure people have as much quality information as possible and a full and accurate understanding of it.”

The 2008 Prenatally and Postnatally Diagnosed Conditions Awareness Act (PPDCAA) attempted to ensure providers and parents receive current information about living with certain genetic conditions and disabilities, and about available supports, but the law remains unfunded, which minimizes its efficacy. Nineteen states have enacted similar legislation, with varying requirements.

NCD also found that genetic testing can have implications when it comes to employment. Employers have sought to collect employees’ genetic information, as well as disability-related information, through workplace wellness programs used in an effort to try to curb rising healthcare costs. There is little public information about the extent to which genetic information is collected through such programs, however, recent years have seen legislative and regulatory efforts to promote the use of penalties or incentives to pressure employees to provide genetic information (as well as disability information) through them.

NCD concludes its report with several recommendations for policymakers, including:

• The Food and Drug Administration should end enforcement discretion and regulate laboratory diagnostic tests, specifically, NIPS, to establish and enforce standards for the accuracy of any claims made by prenatal genetic testing entities.
• The Federal Trade Commission should actively oversee the marketing claims and practices of prenatal genetic testing.
• The U.S. Department of Health and Human Services (HHS), Centers for Medicare and Medicaid Services recognize genetic counselors as health professionals who can receive reimbursement through Medicare and incentivize Medicaid payments for genetic counseling as an independent healthcare service rather than only reimbursing genetic testing.
• Congress should develop enforceable Sunshine and Conflict-of-Interest laws that will bring transparency to any financial relationships between genetic counselors, providers, and commercial laboratories; fund the PPDCAA; and incentivize development of educational units on disability experience and exposure in genetic counselor education.
• HHS National Institutes of Health should establish standing relationships with disability advocacy organizations and include individuals from them on genetic advisory panels; and encourage the attendance of advocates and representatives from disability communities at biomedical conferences by offering scholarships that reduce or cover fees and expenses.
• The Equal Employment Opportunity Commission should clarify that no financial incentives or penalties are permitted to induce employees to disclose health and genetic information

Read this and all of the reports in NCD’s Bioethics and Report Series at https://ncd.gov/publications/2019/bioethics-report-series

About NCD’s Bioethics and Disability Series

NCD’s bioethics and disability report series focuses on how historical and current devaluation of the lives of people with disabilities by the medical community, researchers, and health economists perpetuates unequal access to medical care, including life-saving care. NCD will release its reports in the series on the following schedule:

September 25 – Organ Transplant Discrimination Against People with Disabilities

October 9 – The Danger of Assisted Suicide Laws

October 23 – Genetic Testing and the Rush to Perfection

November 6 – Quality-Adjusted Life Years and the Devaluation of Life with a Disability

November 20 – Medical Futility and Disability Bias

About the National Council on Disability

First established as an advisory council within the Department of Education in 1978, NCD became an independent federal agency in 1984. In 1986, NCD recommended enactment of an Americans with Disabilities Act (ADA), and drafted the first version of the bill which was introduced in the House and Senate in 1988. Since enactment of the ADA in 1990, NCD has continued to play a leading role in crafting disability policy, and advising the President, Congress and other federal agencies on disability policies, programs, and practices.