It has been over 40 days since the open letter to NDSS, NDSC, and GDSF was posted seeking answers to a few questions. Tweets to the organizations and an e-mail to the leadership of each organization with a copy of the open letter provided also were sent. The holidays, understandably, may have interfered with a response being provided. With the start of the new year, just as 2012 began, questions remain as to what the national plan is, and, specifically, the questions asked in the open letter still are to be answered. I am reposting the open letter in full for ease of reference. Answers from NDSS, NDSC, and GDSF to the questions below would be a good way to start off 2013. The organizations’ leadership have the contact information, but in case it has been misplaced, responses may simply be posted below as a reply or e-mailed to me. We hope those answers will be forthcoming.

An Open Letter to NDSS, NDSC, GDSF on Down syndrome prenatal testing resources

Global Down Syndrome Foundation (GDSF) and the National Down Syndrome Congress (NDSC) recently announced the publication of a pamphlet for patients going through prenatal testing for Down syndrome. It sparked discussion through a blog post by Dr. Brian Skotko, which was soon responded to in a joint press release by GDSF, NDSC, and the National Down Syndrome Society (NDSS). This is an open letter from concerned parents, professionals, advocates, and Down syndrome (DS) support group leaders who have been seeking answers from GDSF, NDSC, and NDSS since January 2012 on what plan they have for addressing the advances in prenatal testing. Our unanswered questions include:

• Why a pamphlet was launched claiming to be the first, when the first already exists and was the result of collaboration between NDSS and NDSC before GDSF was really in existence?
• Why did NDSS join the press release when it withdrew from the project over concerns involving the relationship with a single testing laboratory?
• What role does Sequenom (and any other testing companies) have in developing and distributing the pamphlet?

Since representatives of GDSF, NDSC, and NDSS provided information through the November press releases, this letter also is issued as a public statement. We are all, first and foremost, a community, connected by loving individuals with Down syndrome; we want to support those who have questions about what living a life with Down syndrome means. It is our fervent hope that this letter will be viewed as a constructive effort to help expectant parents involved in prenatal testing for Down syndrome and to address the fragmentation over this issue.

Issue 1: Why was the pamphlet created, claiming to be the “first,” when the Lettercase materials are recognized by both NDSS and NDSC as the Gold Standard of information and have received the support of medical professionals? 

The first sentence of the press release states that the publication is “the first Down Syndrome Prenatal Testing Pamphlet.” The pamphlet also is said to be in furtherance of the Kennedy-Brownback Act. These statements, however, run counter to an existing resource that was a collaboration between the two national organizations and done in furtherance of the Kennedy-Brownback Act: the Lettercase booklet “Understanding a Down Syndrome Diagnosis.” We ask why the pamphlet was introduced in this way, and believe it is counter to the history of an extensive effort by national and local organizations.

In 2008, the Kennedy Foundation generously funded the “First Call” program. Its purpose was to review the pamphlets local and National groups already were distributing to expectant parents and medical professionals. The First Call group was to select the consensus document to represent THE information to be provided about Down syndrome in the course of prenatal testing. NDSS’s then policy center director, Madeleine Will, spearheaded the effort with the Kennedy Foundation and NDSC’s then-board president’s wife took a grant-funded position to lead the effort. Additionally, affiliate and medical professionals from around the nation were involved in the reviewing process. Through a series of votes, THE resource was decided upon in 2009: what was then the Canister books and are now the Lettercase materials.

Following the NDSS and NDSC’s designation of the Lettercase materials as THE resource, an unprecedented meeting happened in 2009: the Down Syndrome Consensus Group meeting.

The Down Syndrome Consensus Group consisted of representatives from NDSS, NDSC, as well as the medical professional organizations of the American Congress of Obstetricians & Gynecologists (ACOG), American College of Medical Genetics (ACMG), and the National Society of Genetic Counselors (NSGC). In those discussions, the medical organizations made clear to NDSS and NDSC that unless the resource listed abortion as an option, along with continuation and adoption, it would be seen as an advocacy document that medical professionals could not and would not hand out. Each organization provided input into the Lettercase materials. Revisions were made and the Lettercase materials were re-issued with each of the organizations’ names appearing on the back cover. This remains the only resource that can say this. The credibility provided by listing ACOG, ACMG, NSGC along with NDSS and NDSC is unprecedented. The new GDSF/NDSC pamphlet, however, does not even list the Lettercase materials as an available resource, even though it is available for download for free, with printed copies being available at no-cost for medical providers for the past year.

That the Lettercase materials remain THE gold-standard resource was demonstrated as recently as this February. Leaders from the DS community participated in the NDSS Buddy Walk on Washington and the DSAIA annual conference. Representative Cathy McMorris-Rodgers, the co-founder of the Congressional Down Syndrome Caucus and a fellow mother of a son with Down syndrome, held a meeting with leaders from NDSS, NDSC, GDSF, and DSAIA. At that meeting, the Lettercase materials were held up as THE resource that the community needed to get behind.

Further, the medical community has endorsed the Lettercase materials. In 2011, the NSGC published its guidelines for delivering a prenatal diagnosis. Included in the approved resources were the Lettercase booklets. Just this Spring, a peer-reviewed article published its findings identifying the Lettercase booklet as having the information focus groups of women had identified as what they desired when undergoing prenatal testing.

So, the Lettercase materials were selected as the superior product by the First Call program; were reviewed and vetted by representatives of ACOG, ACMG, and NSGC; and have been endorsed by medical organizations and peer-reviewed studies as approved materials to provide patients. The Lettercase materials were the first and remain the materials recognized by the Kennedy Foundation as being in furtherance of the Kennedy-Brownback Act. Therefore, the new pamphlet’s existence injects confusion as to what resource the National DS organizations support and we ask why the pamphlet was published, given the long and painstaking work involved in achieving consensus around Lettercase.

Issue #2: What is the relationship with Sequenom and the pamphlet?

When we began our correspondence in January, we asked GDSF, NDSC, and NDSS what their plan was. When we sent our first inquiry, Michelle Whitten with GDSF objected to being included in the list of organizations involved. She likened GDSF to being more like a local affiliate, not a national, and therefore did not belong in the list of organizations queried about the plan to address prenatal testing advances. Yet, GDSF is front-and-center in the press release and announcement of the new pamphlet.

Also, in response, we were assured that the new resource would be a unity resource of NDSS, NDSC, and GDSF—as recently as early June at the ISPD conference by Dan Ketcherside with Sequenom. The pamphlet, however, is not a unity project. NDSS was not part of the final project and does not appear as a listed resource in the pamphlet. The reason for NDSS leaving is still an issue that raises questions: the role of Sequenom.

When Sequenom was preparing to launch MaterniT21 to market (and ultimately did in October 2011), there were claims that it would not distribute the Lettercase materials because there was disagreement with the Lettercase materials expressed in the Down syndrome community. If that is the case, we ask who conveyed those concerns, what were the concerns, and if concerns about the new pamphlet have also been conveyed to Sequenom?

Our concern was further raised when a subsequent press release announced that Sequenom will be distributing the pamphlet as part of its marketing materials. Apparently, Sequenom will be the only testing company to distribute the pamphlet. It seems likely, then, that this pamphlet will become seen as “the Sequenom Down syndrome pamphlet.” This apparent exclusivity was the reason NDSS cited in a conference call for withdrawing from the project, and so its appearance on the press release “applauding” the new pamphlet needs to be further explained.

The press release about the distribution agreement raises further questions about the relationship with Sequenom: it states that Sequenom’s perspective was included in the pamphlet; that that perspective includes mentioning the financial cost of a child with Down syndrome in its marketing materials; and, states that no financial benefit or incentive is associated with the distribution agreement, but that GDSF and NDSC will have their logos and the pamphlet’s reference to only those organizations as a resource—but not NDSS, Lettercase, or other resources recognized by professional guidelines—in a pamphlet the press release says will be distributed to thousands. It is an apparent contradiction that there is no financial benefit or incentive when Sequenom will be carrying the costs for distributing most of the copies of GDSF and NDSC’s pamphlet. Further explanation of the relationship with Sequenom, and why no other testing laboratory has agreed to distribute the pamphlet, is needed.

Conclusion

Our unanswered questions boil down to the following:

1. Why has the hard-won consensus forged around the Lettercase materials been set aside in favor of the new pamphlet, which carries less credibility and consensus?
2. What is the relationship that GDSF and NDSC and Sequenom and other testing companies have to the pamphlet?

As we said at the outset, we raise these concerns in the hopes of bringing about constructive dialogue in which all who are concerned about the ethical administration of prenatal testing can speak and have their questions addressed.

When Sequenom launched and was soon followed by other companies last October, imagine what would have happened if those testing companies had agreed to distribute the Lettercase materials because the Down Syndrome Consensus Group had recognized it as THE GOLD STANDARD for expectant parents? And, for all the concerns raised by some about the cost of the Lettercase materials, would that concern have been the same if thousands upon thousands of copies of the Lettercase materials were distributed to the medical community across America this past year? Similarly, if the manhours and financing that has gone into developing the pamphlet and the website were instead put towards supporting the Lettercase materials, how might that have impacted the cost? So, a new pamphlet being available to parents and distributed to the medical community, unfortunately, comes a year too late and a year has passed without vitally-needed information accompanying the offering of prenatal testing or a prenatal testing result.

We hope you will respond to this letter and specifically answer the questions asked in it. If you do not respond, however, we will take your silence to be an admission of the foregoing statements and that the worst that we have thought actually did happen. A moment occurred in our generation for our community to stand united, and instead we failed to stand behind a consensus already forged to ensure thousands of parents received the best available information.

(organizations and positions are listed for identification purposes only)

/s/Frank Buckley, CEO, Down Syndrome Education International

/s/Nina Fuller, Executive Director, S.M.I.L.E. on Down Syndrome

/s/Nancy McCrea Iannone, Outreach Coordinator, KIIDS

/s/Laurie Kowalski, New Parent & Family Support Coordinator, The Up Side of Downs of Northeast Ohio

/s/Mark W. Leach, Chair, Informed Decision Making Task Force; Down Syndrome of Louisville

/s/Suzanne Shepherd, Co-President, Down Syndrome Association of Central Texas

/s/Robin Steele, Director, National Down Syndrome Adoption Network

/s/Stephanie Thompson, Assistant Director, National Down Syndrome Adoption Network