How a pamphlet did not provide information to expectant mothers

Sequenom’s MaterniT21, et al., booth

The development and re-development of Global Down Syndrome Foundation’s (GDSF) pamphlet for expectant mothers (which covers prenatal testing options and the basics about Down syndrome) has deprived women of professionally recommended information about Down syndrome for years.

But, maybe that will end based on public statements made at the National Down Syndrome Congress (NDSC) convention. Based on their statements (which curiously the audio is not provided online)  NDSC and GDSF should stop objecting and allow testing laboratories to distribute Lettercase.

Background

In a series of posts, I’ve detailed the reasons for the GDSF pamphlet given by GDSF and NDSC leadership at the NDSC convention.

Many readers have commented favorably on the series, appreciating the history. For many, the retrospective explained a period before some parents had become involved in the Down syndrome community, mostly because their children are younger than three years. Some have wondered why it matters if GDSF created a pamphlet that NDSC supports when there was already the Lettercase booklet Understanding a Down Syndrome Diagnosis. Here’s why.

A time for unity

October 17, 2011, Sequenom launched MaterniT21 – a noninvasive genetic test offered to expectant women — and with it the new era of noninvasive prenatal screening.

The Down syndrome community knew this moment was coming since 2009, when Sequenom scheduled its initial launch. Sequenom had been in talks with the Down syndrome national organizations asking what resource it should provide with its materials.

Leading up to Sequenom’s launch, the NDSC and the National Down Syndrome Society (NDSS) had identified the resource to be provided: the Lettercase booklet. This was the result of the Kennedy Foundation-funded First Call grant, which both organizations received to identify the resource to be provided.

Lettercase also was the result of a historic consensus effort amongst NDSC, NDSS, the American College of Obstetricians & Gynecologists (ACOG), the National Society for Genetic Counselors (NSGC), and the American College of Medical Genetics & Genomics (ACMG). By the time of Sequenom’s launch, the NSGC further had recognized the Lettercase booklet in its guidelines for delivering a Down syndrome diagnosis.

But when Sequenom launched, the NDSS and NDSC balked in backing the Lettercase book.

So, concerned advocates, including myself, asked national leaders via an e-mail: what was the plan of action to respond to this new form of prenatal testing?

Included in the email recipients was Michelle Whitten of GDSF. She called me, objecting to being included, saying GDSF wasn’t a national organization. But, soon enough NDSS, NDSC, and GDSF announced they would be developing a new resource.

And, so, Sequenom did not provide any information on Down syndrome to its provider network when it launched in 2011 while it waited for the promised new resource.

Another call for unity

In February 2012, the Down Syndrome Affiliates in Action (DSAIA) conference was held in our nation’s capital. There, on Capitol Hill, staffers of Rep. Cathy McMorris-Rodgers, co-chair of the Congressional Down Syndrome Caucus, issued another call for unity.

Representatives of NDSS, NDSC, GDSF, DSAIA, and both the Lejeune Foundation USA and the LuMind Foundation, (formerly the Down Syndrome Research & Treatment Foundation) attended the  meeting.

At this meeting, congressional staffers held up the Lettercase book and pointed out that the resource to be given women had already been recognized and the multiple Down syndrome organizations should stop reinventing the wheel and support Lettercase.

Instead, after the meeting, Whitten expressed her objection to Rep. McMorris-Rodgers’ staff after the meeting.

And, so, through the Spring, as Sequenom’s test continued to be offered and test results were delivered, Sequenom continued to provide no information about Down syndrome, still waiting for the promised resource agreed upod by NDSS, NDSC, and GDSF.

Disunity prevails

In  early summer 2012, NDSS pulled out of the effort to develop a new resource. Negotiations with Sequenom had suggested Sequneom would have an exclusive right to the materials and NDSS objected to this. Sequenom had not provided the Lettercase booklet because it wanted a resource all national groups supported. Now, even the resource being developed wasn’t supported by all the national organizations.

By this point, genetic testing laboratory Ariosa had launched its non-invasive screening test Harmony and a competitor, Verinata, had launched its verifi test to join MaterniT21. While Ariosa has always provided the Lettercase booklet, Verinata was still considering whether to provide any information about Down syndrome to its provider network. Natera later joined the NIPS market in December 2012, and now distributes the Lettercase booklet.

Meanwhile, a Center for Disease Control (CDC)-funded study of expectant moms had asked what information they wanted to receive about Down syndrome in their prenatal care. The study concluded the Lettercase booklet was the resource that had the information expectant mothers said they wanted.

But, Sequenom still would not provide this resource to its provider network for expectant women because NDSC and GDSF continued to object to the Lettercase booklet. Moreover, expectant women using Sequenom’s test continued to receive no information about Down syndrome from Sequenom, because GDSF still hadn’t developed its pamphlet.

Pamphlet developed and not provided to patients

GDSF did not launch its pamphlet until November 2012, more than a year after Sequenom launched its test. The effort was called a partnership with NDSC, but NDSC’s medical advisory group had not given the pamphlet its approval.

While there was not a stated exclusive agreement with Sequenom, Sequenom paid for the pamphlet’s production, paid for distributing it to its marketing representatives across the country, and has been the only testing company to distribute it. NDSC and GDSF reported they have not received any financial contribution from a testing company when they presented at NDSC’s convention in early July 2014.

Yet, women still aren’t getting information from Sequenom.

This is because, as GDSF found out in its own paid-for market survey, a significant percentage of medical professionals said they would not hand out the pamphlet to its patients because it did not cover all options.

In the Spring of 2013, the ACMG issued its statement on NIPS. In the statement, ACMG said women should receive resources with a test result and identified three resources: brighter-tomorrows.org, the American Academy of Pediatrics Down syndrome healthcare guidelines, and the Lettercase booklet. But, in regular talks with Sequenom, it would not agree to distribute the Lettercase booklet because of objections from GDSF and NDSC.

Women denied information

In 2014, Sequenom staff informed me that it was no longer distributing the GDSF pamphlet while GDSF and NDSC developed a new pamphlet.

Based on the above facts, then, a pamphlet supposedly developed to provide women information:

• was not developed for a full year after NIPS launched;
• when developed, was only and ever distributed by one NIPS laboratory (while two distributed the Lettercase booklet);
• when distributed, was not given to patients by a significant number of medical professionals; and,
• has not been given out for most of 2014 while a new version is being developed.

In the three years since the new era of prenatal testing began, women have not been provided information by the company with the largest market share for more than half of that time.

Consider the alternative

Now, consider the alternative. Think if all the time and money spent by GDSF to develop its pamphlet and conduct its market study had instead either been spent on distributing the Lettercase materials, or even just gone to its main stated mission, which is Down syndrome medical research?

Think if when each lab rolled out its test, they instead had the booklet recognized by the organizations themselves, professional medical guidelines, staffers of the leader of the Congressional Down Syndrome Caucus, and in an independent study of expectant mothers?

Then, for the last three years, every doctor offering NIPS would have received the same information, and had the professionally-recognized resource to give women receiving a test result for Down syndrome.

That evolution of information dissemination finally would have reversed the trend where women would receive information about prenatal testing without the information about Down syndrome women say they want.

Going forward, women can receive information about Down syndrome

What’s past is past. But, things can be better going forward.

I recognize that being a paid staff member of the organization that distributes Lettercase gives critics an easy ad hominem argument that I’m biased. That’s why I emphasize the professional guidelines and objective studies that identify the Lettercase booklet as the information to be given women.

But, I’m not alone in this.

Recall, at the NDSC convention in July 2014, David Tolleson, NDSC’s executive director, and Whitten, GDSF’s executive director, had nothing negative to say about distributing the Lettercase booklet.

Moreover, Tolleson said, and has said in previous public statements, that they have no objection to organizations giving out GDSF’s pamphlet and/or the Lettercase booklet. As he said, it’s all about providing information, and the more information, the better. I hope GDSF and NDSC mean that.

Because Lettercase has offered to all the NIPS labs 2,000 free copies of the Lettercase booklet to be distributed to their provider networks.

Ariosa and Natera have accepted this offer. Verinata has chosen to remain neutral. But Sequenom has said it can’t accept the offer while NDSC and GDSF tell Sequenom they object to the Lettercase booklet.

If GDSF’s pamphlet was really just about providing women information, then why should GDSF or NDSC object to Sequenom accepting Lettercase’s offer? Particularly now, while Sequenom is not distributing any information while waiting for GDSF to develop its new pamphlet.

GDSF and NDSC should drop their private objection to Sequenom, because, as they said less than three weeks ago, they’re fine with groups giving out either or both resources, GDSF’s pamphlet and the Lettercase booklet.

Then, information will be provided to more doctors offering the latest  in prenatal testing, and expectant mothers can receive the professionally-recognized resource of the Lettercase booklet.