Down Syndrome Prenatal Testing Year in Review: 2014

Calumet Farm’s Kentucky Derby, Preakness, & Triple Crown trophies

The year 2014 mirrored the paradoxical trajectory of Down syndrome: just as things have never been better for individuals with Down syndrome, fewer are choosing to welcome children with Down syndrome into their families.

Here’s a tick down of the stories that I covered this year that I think were the most significant:

1. I shouldn’t even have to say this: In March, I attended a dinner hosted by Verinata, the maker of the non-invasive prenatal screening (NIPS) test verifi. There, an attendee asked if the company had assessed whether its testing was “cost-effective.” In the parlance of prenatal genetic testing, cost-effectiveness is typically determined based on whether the costs of the testing itself is less than the amount of “savings” to be recognized by the medical costs avoided by the number of children with Down syndrome being aborted. To make sure this is what was being asked, I asked if the attendees and the company were talking about the number of children like my daughter who would not be born because of decisions after their testing. As I said at the start of the post, “I shouldn’t even have to say this.”
2. NIPS remains a test for “high risk” moms: early in 2014, a team lead by Diana Bianchi, one of the lead researchers for Verinata’s verifi, published a study in the New England Journal of Medicine seeking to establish that NIPS was a viable prenatal screening alternative for all expectant mothers. The Society for Maternal Fetal Medicine critically reviewed the study and concluded it showed just the opposite: that NIPS remains a screening option that has only proved informative for women already considered high risk. Nothing has changed this conclusion and the SMFM’s statement remains the most recent statement on who should be offered NIPS: only high-risk moms.
3. States requiring accurate information with Down syndrome test result: Following the success in 2012 of Massachusetts leading the way with the Down Syndrome Information Act, and Kentucky being next in 2013, 2014 saw an explosion in the number of states passing the Act, in one form or another. Delaware, Pennsylvania, and just before Christmas, Ohio, passed essentially identical versions of the Act. Louisiana and Maryland passed their versions of the Act as well. More states are expected in 2015 and hopefully more and more women will receive the information recommended by professional guidelines to accompany a prenatal test result.
4. How a pamphlet denied women accurate information about Down syndrome: in a series of posts, I covered how Global Down Syndrome Foundation (GDSF) created a pamphlet, which has the backing of the National Down Syndrome Congress. By the GDSF’s own paid-for survey, medical professionals have said they will not pass it out to their patients. Because of GDSF’s efforts, companies like Sequenom and Verinata also have not provided information about Down syndrome to women they know are receiving a positive test result. This has had dire consequences.
5. More women having prenatal testing, terminating their pregnancies, and continuing their pregnancies than ever before: As paradoxical as that statement is, it is all true. More women than ever are having prenatal testing. Because of this, more women are finding out they’re having a child with Down syndrome than ever before. And, as a result, while more are terminating than ever before, so too are more choosing to continue their pregnancies.
6. The more women know, the fewer choose prenatal testing: again, a counterintuitive statement. After all, prenatal testing is all about providing information. We’re supposed to be in a pro-information age. And, with NIPS, the information is promised to be the most accurate ever. Yet, a seminal study published in the Journal of the American Medical Association found that the more women understood about prenatal testing, fewer women chose to accept prenatal testing.
7. 

   David DeSanctis stars in Produce the movie

   “Produce” the movie premieres: this year the movie “Produce” premiered at several film festivals, including in my hometown of Louisville. It is a film that stars David DeSanctis, a young man with Down syndrome, who happens to be a member of my local Down syndrome support organization. DeSanctis does a remarkable acting job, given that it is his first role as an actor. Hopefully 2015 will find Produce receiving a wider distribution and changing how some may see a life with Down syndrome.

8. NIPS becomes “franchised“: Verinata began licensing its testing technology to labs across the nation. This has a couple of significant impacts. First, NIPS used to be confined for its first two years to just four laboratories. It provided an unprecedented opportunity for concentrating the sources for prenatal testing for Down syndrome and thereby a concentrated network for distributing accurate information about Down syndrome to expectant parents (but for the confusion caused by  GDSF and NDSC previously mentioned). But in the Fall of 2014, that defined universe of labs changed. Now any lab that will pay Verinata for the verifi technology will be able to offer their own version of that testing, without clinical studies verifying the testing accuracy. This diffuses the sources for distributing accurate information and increases the chances of both no information being provided about Down syndrome but also a questionable level of accuracy in the franchised tests.
9. Women are aborting based on a maybe: in a significant report by the New England Center for Investigative Reporting, Beth Daley revealed a dirty secret about NIPS: women are terminating based on a maybe. Daley’s report shared how patients and medical professionals alike do not understand that a 99% accuracy rate can really mean a less than 50/50 chance of having a child with Down syndrome. And, yet, women are terminating based only on that “maybe” provided by NIPS. They do not understand that NIPS is simply a recalculation of the probability of having a child with Down syndrome but it is NEVER a definitive diagnosis. A medical offering premised on providing women information is in fact providing misinformation upon which women are making irrevocable choices and ending their pregnancies.
10. The ABLE Act passes into Law: Finally, to conclude the year, a Congress that has been the definition of gridlock passed the ABLE Act by one of the largest bipartisan margins ever. The ABLE Act will allow individuals who are disabled by age 26 to establish savings accounts for defined expenses, such as education and housing, without jeopardizing their ability to qualify for needed social support programs, like Medicaid and SSI Disability. It will be yet another positive public policy measure that will make life even that much better for individuals with Down syndrome. Unfortunately, however, as covered by several of the other posts above, this measure may apply to an ever dwindling population as women make decisions based on misinformation or no information.