Where the DoD/VA prenatal testing guidelines fall short: the need for post-test counseling

With Veterans Day starting off this week, I have been examining the Department of Defense/Veterans Administrations guidelines concerning prenatal genetic testing. So far, the guidelines provide the most robust recommendations for pre-test counseling. Here, however, is where the guidelines fall short.

In the previous posts this week, I have highlighted how the DoD/VA guidelines make clear the need for pre-test genetic counseling. While the major medical organizations’ statements on prenatal testing recognize the need for counseling, counseling does not receive as much attention as the DoD/VA guidelines laudably provide. Because the guidelines recognize the need for counseling test, that is why where the guidelines fall short is equally notable.

Whereas pre-test counseling is justified to ensure the patients make an informed choice about accepting testing, the guidelines are woefully insufficient in advising about post-test counseling. Here is the sum total of the DoD/VA guidelines on what a woman should be counseled about after a test result:

Posttest counseling. This counseling should be provided to all women who have undergone screening or diagnostic testing when the result of the testing is abnormal or “high risk.” This posttest counseling should include a discussion of the significance of the result, including its limitations such as the false positive rate and an outline of further options and management strategies for the woman and her family.

And, that. is. it.

This paucity of content is further reflected in the flow-chart in the guidelines on what to do after a positive diagnostic test (the full flow chart can be accessed at p. 125, Appendix E of the guidelines). In the box for “Counseling” there are only two steps listed:

• Options
• Preparation for consequences

And (again) that. is. it. This is not even consistent with professional medical guidelines–which the DoD/VA are well aware of.

The DoD/Va guidelines reference the American Congress of Obstetricians & Gynecologists (ACOG) guidelines and many medical journal articles. But, the guidelines ignore what else the ACOG guidelines and other medical guidelines recommend for post-test counseling. In addition to discussing “options” and “consequences,” ACOG Practice Bulletin 88 recommends discussing the “natural history” of the tested-for conditions and recognize that referral to local and national parent support organizations, social workers, and clergy can be very helpful to families. 

Moreover, the National Society for Genetics Counselors (NSGC) has an extensive guideline devoted to delivering a Down syndrome diagnosis that lists the essential information to be shared and approved print and on-line resources to be provided patients. The American Academy of Pediatricians (AAP) address prenatal care in its Health Supervision for Children with Down syndrome, which recognize that patients benefit from positive stories from families with children with Down syndrome. And, most recently, just this Spring, the American College for Medical Genetics and Genomics (ACMG) identified the three resources to be provided to patients following a prenatal test result for Down syndrome: brightertomorrows.org, the Lettercase booklet Understanding a Down syndrome diagnosis, and the AAP guidelines. These resources are available on this website at the Prenatal Resources Tab.

To be fair, the NSGC, AAP, and ACMG guidelines were not issued at the time of the DoD/VA guidelines. But, ACOG Practice Bulletin 88 was, as well as other medical journal articles detailing how parents need up-to-date information about Down syndrome and referral to parent support organizations.

The DoD/VA guidelines are exemplary for the guidance they provide at the beginning of prenatal care, in advising how women should receive pre-test counseling to ensure they make an informed decision in accepting prenatal testing. But, the guidelines are woefully inadequate and in need of updating for post-test counseling to ensure any decision about “options” is one that is an informed decision about what living a life with Down syndrome is like and the available supports for families.