The Best Ethical Practices for Down Syndrome Prenatal Testing

The medical journal, Prenatal Diagnosis, published this year an article titled, “The Best Ethical Practices for Clinicians and Laboratories in the Provision of Non-Invasive Prenatal Testing.” Here are the highlights.

An unnamed testing laboratory (I believe it was Ariosa, the maker of the Harmony test), requested an examination of how best to provide non-invasive prenatal testing. A group of “clinicians, members of industry, legal experts, and genetic counselors” sought consensus, not majority, in its recommendations. The group hosted a one-day conference that included representatives from the disability community where feedback was solicited. The effort was in collaboration with an NIH-supported research ethics consultation committee.

The group’s end product is the result of a broad literature review on prenatal testing for Down syndrome and other genetic conditions. The article recognizes that absent ethical guidance,

[NIPT] presents a strong potential for ill-informed patient decision-making, unjust distribution of services and increased stigmatization of disability communities.

Here is my summary of the guidance offered by the group. The article contains its own numbered list, which is accessible publicly at this link.

Offering non-invasive prenatal testing

1. Patients should receive pre-test counseling and be offered genetic counseling before testing.
2. Clinicians should discuss the accuracy of the tests and the medical and social elements of raising a child with the tested-for condition.
3. Written informed consent should be obtained that allows for acceptance or refusal of NIPT. The patient should be advised of the
   [a] available tests;
   [b] the tests validity and limitations;
   [c] alternative tests for similar indications; and,
   [d] options for patients who do not want to receive all of the possible results that can be returned by the offered tests.
4. Alternative methods for educating patients should be considered, such as educational classes, in light of the time constraints of most prenatal care visits.
5. Clinicians should appreciate that some women do not want to have testing; testing should not be part of routine blood work and patient’s should choose without undue influence or expectation that they will accept testing.

Returning non-invasive prenatal results

1. “We strongly recommend that a full genetic counseling session, including the recommendation of confirmatory testing, be provided after a positive” NIPT result.
2. “It is critical that prenatal decisions be made on the basis of accurate and up to date medical information combined with information about psycho-social aspects of life with the specific conditions.”

Responsibilities for NIPT labs

1. Avoid marketing strategies that focus on “prevention” or suggesting any condition justifies testing.
2. Should not encourage abortion based on a genetic condition.
3. Offer NIPT through clinicians–not directly to consumers.
4. Develop clear consent forms for ordering services.
5. Provide clinicians with educational materials explaining the purpose of testing and the potential risks and benefits of undergoing the testing.
6. Disclose intentions to use samples and genetic data to conduct research and receive consent prior to doing so.
7. Certify that informed consent was obtained before providing testing.
8. Develop viable business strategies that allows for greatest access to NIPT.
9. Make available data to enhance test interpretation and improvement.

This is part one of two. The second post will feature a survey offered by members of this group where you can share your thoughts on prenatal testing.

Leave a comment on your thoughts on the list of “best ethical practices.” Anything missing or room for improvement with these recommendations?