The 2014 NDSC Convention: prenatal testing for Down syndrome resources

At the 2014 National Down Syndrome Convention in Indianapolis, Indiana, David Tolleson, NDSC’s executive director, and Michelle Whitten of Global Down Syndrome Foundation (GDSF) presented on their organizations’ updated prenatal testing pamphlet. Here are some observations from that presentation.

Some of my very first readers will recall that the GDSF/NDSC pamphlet was the cause for much discussion when it launched in 2012. Primarily, the question was why it was even created. As Tolleson noted in the workshop, when non-invasive prenatal screening launched, they thought it important to have a resource ready for mothers. Except, they already did.

The Kennedy Foundation generously funded a project for the NDSC and the National Down Syndrome Society to identify the gold standard of information to be provided to expectant mothers. Through that process, the NDSC and NDSS identified the Lettercase booklet, Understanding a Down Syndrome Diagnosis, the gold standard of information. It has since gone on to be the only book recognized by both the National Society for Genetic Counselors and the American College of Medical Genetics & Genomics, and identified by both mothers and genetic counselors in independent peer-reviewed medical studies as the information to provide to mothers undergoing prenatal testing.

So why spend the time and resources developing different materials when NDSC had had a grant-funded project that did that already?

This was asked during the session. First, both Tolleson and Whitten praised the Lettercase materials, calling it “great” with “beautiful photography.” Further, Tolleson noted that creating the NDSC/GDSF pamphlet was about providing more options for information, not less. So, nothing critical said of the Lettercase book, again begging the question: why create another pamphlet and introduce confusion instead of unifying resources, messaging, and collective voices of the Down syndrome community to distribute the Lettercase book?

In response there were identified two reasons that I will term “format” and two that concerned “substance.” Here I will address 3 of the 4 identified reasons, saving the fourth for a post of its own for next week.

Format Reason #1: Pamphlet is free.

Both Tolleson and Whitten said they wanted to ensure their pamphlet was available for free. This was cited as a distinction with the Lettercase book. Except, the Lettercase material is available for free. It has always been available for free to medical professionals who can order a complimentary copy every 2 months. Further, responding to feedback to the study of expectant mothers that identified Lettercase as having the information they wanted, Lettercase made its materials available for free on-line in July 2012, as requested by those survey participants. The first NDSC/GDSF pamphlet was released in November 2012. The first identified distinction doesn’t justify the pamphlet’s creations.

Format Reason #2: Easily updatable.

The other format reason was that NDSC/GDSF wanted a pamphlet that was easily updated. The pamphlet was launched in November of 2012–(a full year after Sequenom introduced the first NIPS test into the market). The new version of the pamphlet is scheduled for launch in November 2014–two years later. Since the pamphlet was introduced, Lettercase has updated its booklet to include even more diverse photography and to reflect the most current research (such as the revised population estimate of individuals with Down syndrome). It did so in November 2013. The Lettercase pamphlet has been updated sooner than the pamphlet, making format reason number 2 not a distinction that justifies the pamphlet’s creation.

Substantive reason #3: Prenatal testing had to be discussed.

Now we turn to the substantive reasons. Whitten explained that it was important to GDSF that the pamphlet discuss prenatal testing. There is some context that needs to be appreciated for why this is actually both not a reason for creating the pamphlet and why it is not a distinction with the Lettercase materials.

The Lettercase book was initially identified by NDSC and NDSS as the gold standard and then went through a revision process with representatives of NDSC, NDSS, NSGC, ACMG, and the American College of Obstetricians & Gynecologists (ACOG)–called the Down Syndrome Consensus Group.

What was not mentioned in the presentation was that the version of the Lettercase book first identified as the gold standard did discuss prenatal testing. However, when the consensus group offered its input, the medical professionals asked that the section on prenatal testing be removed, with providers being in the best position to explain testing options in an individualized way and to account for technology constantly evolving. So it was removed.

In the workshop audience at the convention was Rich Robison, the NDSC board president at the time of the consensus group. Robison’s wife chaired the Kennedy Foundation grant process that identified Lettercase as the gold standard and then Robison, himself, was one of NDSC’s representatives to attend the consensus meeting with the medical professionals.

This context illustrates that NDSC has known since 2009, when the consensus group convened, that both the initial version of Lettercase discussed prenatal testing and medical professionals advised that prenatal testing should not be discussed within the Lettercase materials–so that section was removed. This reason of GDSF’s, then, was refuted by representatives of the professional medical organizations that set the standard of care for prenatal testing.

What’s more, this is why Lettercase created a pamphlet that addresses prenatal testing separate and apart from the Lettercase book. This pamphlet, Understanding Prenatal Screening and Testing for Chromosome Conditions, was created with the input from representatives of NSGC, as indicated by a statement approved by their organization. Because prenatal genetic testing for Down syndrome may give results for other genetic conditions, the Lettercase pamphlet addresses those other tested-for genetic conditions. It, too, is available for free on-line and to medical professionals.

So, again, the third stated reason is not a distinction and does not justify creating the pamphlet, because there is a pamphlet that discusses prenatal testing.

These were some of my questions/observations from the session. However, to be fair, I am a paid representative of the organization that distributes Lettercase. And, I appreciated NDSC giving me the opportunity to present at the only annual conference for families and individuals with Down syndrome on what I think is the most important issue for the Down syndrome community: addressing the way prenatal testing is administered–I hope that I can look forward to presenting at future conferences. Tolleson attended much of my presentation and did not interject questions, so I reserved my comments during their presentation, but I felt it appropriate to share them here.

The next post will deal with reason number four: abortion. I’m sure you’ll tune in for that. Look for it on Monday.