Will Amer­ica cull peo­ple with Down syn­drome?

A new, sim­pler test just10 weeks into a preg­nancy can iden­tify the ge­netic dis­or­der. Then, a dif­fi­cult choice.

USA TODAY International Edition - - The Forum - By Brian Skotko Brian Skotko is a physi­cian in the Down Syn­drome Pro­gram at Chil­dren’s Hos­pi­tal Bos­ton. He serves on the board of di­rec­tors of the National Down Syn­drome So­ci­ety and the Mas­sachusetts Down Syn­drome Congress.

In mid- Oc­to­ber, preg­nancy as we know it for­ever changed in Amer­ica. The com­pany Se­quenom an­nounced that with a sim­ple blood draw at 10 weeks of ges­ta­tion, a preg­nant wo­man can now learn with near 99% ac­cu­racy whether her fe­tus has Down syn­drome.

As a physi­cian in the ge­net­ics com­mu­nity, I know that this news brings some wel­comed change. With a “neg­a­tive” re­sult on the new blood test, women might be able to avoid riskier pro­ce­dures such as am­nio­cen­te­sis or chori­onic vil­lus sam­pling, which in­volve in­sert­ing a long nee­dle through the ab­domen of a preg­nant wo­man to ob­tain a sam­ple of cells that are then tested for a chro­mo­so­mal con­di­tion. In a small num­ber of cases, these pro­ce­dures can cause mis­car­riage.

Even­tu­ally, the new test will be cheaper, too. Am­nio­cen­te­ses and chori­onic vil­lus sam­plings typ­i­cally range from $ 1,000 to $ 2,000. Now, Se­quenom’s Ma­ter­nit21 test is be­ing billed to in­sur­ance at the same cost, but our mar­ket­place might soon bring that num­ber down as ge­netic tech­nol­ogy be­comes less ex­pen­sive. Dif­fi­cult ques­tions

With these new tests, how­ever, Amer­ica also con­fronts ex­pec­tant par­ents with a pa­rade of un­com­fort­able ques­tions. Cur­rently, only 2% of preg­nant women are pur­su­ing chori­onic vil­lus sam­pling or am­nio­cen­te­sis. Now, with the sim­pler blood test, the per­cent­age of women who might choose to un­dergo test­ing will grow, if not sky­rocket. As the doc­tors phone the news of the re­sults, more and more ex­pec­tant cou­ples will be fran­ti­cally ask­ing: What does it mean to have a child with Down syn­drome? And do we re­ally want to find out?

My re­search col­leagues Sue Levine, Rick Goldstein and I re­cently sur­veyed more than 3,000 fam­i­lies na­tion­wide who have a mem­ber with Down syn­drome. The pos­i­tive re­sults might sur­prise some: 99% of par­ents say they truly love their son or daugh­ter with Down syn­drome; 88% of broth­ers and sis­ters say they are bet­ter peo­ple be­cause of their sib­ling with Down syn­drome. Peo­ple with Down syn­drome them­selves spoke up, too: 99% are happy with their lives, and 97% like who they are. My sis­ter with Down syn­drome cer­tainly does. ( I of­ten won­der: How many Amer­i­cans can say the same?)

But will this mat­ter? Our so­ci­ety has his­tor­i­cally al­lowed its peo­ple to be­come the fi­nal ar­biters about their iden­ti­ties: African Amer­i­cans as­serted in­her­ent dig­ni­ties dur­ing the civil rights move­ment in the 1950s and ’ 60s; women show­cased their per­sonal value dur­ing the women’s suf­frage move­ment at the be­gin­ning of the 20th cen­tury; the Jewish peo­ple re­built and re­claimed iden­ti­ties af­ter the Holo­caust; and gays and les­bians are claim­ing pride through their own civil rights move­ment of this cen­tury. Now, peo­ple with Down syn­drome— and their fam­i­lies — have joined the de­bate about their own con­di­tion. Like groups be­fore them, their self- de­scrip­tions stand in con­trast to the ways in which oth­ers might de­scribe them. Lives worth liv­ing

Ath­letes such as Pa­trick Myshrall of St. Peter- Mar­ian High School in Worces­ter, Mass., are scor­ing touch­downs. Em­ploy­ees like Louis Sciuto of North An­dover, Mass., are among the best work­ers at Tar­get. Adults like Mar­garet Muller of Santa Mon­ica, Calif., are liv­ing mean­ing­fully, with as­sis­tance, in their own homes. No longer are peo­ple with Down syn­drome “poor things,” “sweet souls” or “re­tarded cit­i­zens.” In­stead, they and their fam­i­lies have claimed ful­fill­ing lives, rich with “typ­i­cal” life ex­pe­ri­ences. And, yes, ac­cord­ing to our same re­search, even those par­ents whose chil­dren with Down syn­drome have more com­plex med­i­cal needs re­port the same feel­ings of re­ward and joy.

I care deeply that pa­tients re­ceive ac­cu­rate, up- to- date, bal­anced in­for­ma­tion so they can make in­formed de­ci­sions. Yet, as a physi­cian, I am not in the busi­ness of telling ex­pec­tant cou­ples what preg­nancy de­ci­sions they should be mak­ing when their fe­tus has Down syn­drome. That is their de­ci­sion.

But the de­ci­sion no longer needs to be made in a vac­uum, nor should it be made with lin­ger­ing mis­per­cep­tions that are still whis­pered in our so­ci­ety. The med­i­cal com­mu­nity has helped cre­ate a gold- stan­dard book­let, Un­der­stand­ing a Down Syn­drome Di­ag­no­sis, with fair and bal­anced in­for­ma­tion for ex­pec­tant cou­ples. For those de­sir­ing a more per­sonal view, par­ent vol­un­teers are stand­ing by 24/ 7 ready to phone, text, or tweet on what it means to have a child with Down syn­drome. The re­sources have been cre­ated. The re­search has been done. The per­sonal con­nec­tions are here.

Even with all of these tools in place, Amer­i­cans will need to wres­tle with per­haps the most un­com­fort­able ques­tion of all: How many of us are still un­easy with peo­ple with Down syn­drome and ter­ri­fied at the thought of rais­ing a child with the con­di­tion? Our na­tion’s an­swer will be found in our new­born nurs­eries.

By Sam Ward, USA TO­DAY

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