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or rsmatoev Asszssiostlr


October 5, 1992


Since 1989 a test has been available to detect carrlers or cystic lltzrosls. the most common Me

shcnening recessive disorder aliecting Caucaslans of Europmn descent, As ol summer 199t, n suwey by

the congressional Otlice ol Technology Assessment {OTA) ol 431 genetic counselors and nurses ln

genetics, lound that 53 percent ol the respondents did not oller CF carrier screening to individuals without

alantlly history ol the drseasa Only 2l percent ol respondents advocate the use ol volumary carrier

screening to lndrvlduals with no lamlly history.

The survey ls the subject ol a background paper Issued today that supports OTA's August 1992

assessment Cystic Fibrosis and DNA Tests· Inrplrcariorrs of Carder Screening, requested by the House

Commlnee on Science, Space, and Technology. the House Committee on Energy and Commerce, and

About 2,¤00 babies with CF are hom annually ln the United States. Beyond the approximately

30.Ut)D Americans who have CF, as many as B million lndirlduals could be canlers lorCF Prior to 19m.

the absence or presence ol CF in one`s lamtyl as well as ethnic and racial background. were the only

tndrcators avaliableto determine risk ol being a CF usnrer. Today a ona·tlrne test can detect B5 to 95

percent ot CF carrrsrs. depending on ethnicity

Those opposed to screening individuals without a lamly history ol CF cite concerns about the

test's less than t¤0 percent detection rate, the need lor adequate pretest education and post-test

counseling, and the potential lor stigma and dlscrlmrnation otthose identiiied as oanlers. Those who

advocate the tests are no less concernm about lnlormed consent and quality ol services, but believe that

Two·thirds ol respondents to OTA's survey believed that the test sensitivity should be greater

belore screening is routinely otlered. with nearly itu percent sutlngthat is should be at least 95 percent At

the time ol the survey, test sensitivity was approximatelyBD percent, but as ol summer 1952. It has

increased to BS to BD percent ~ and in some cases95 percent -~ so opinions might have changed Nearly

all surveyed (99 percentr strongly agreethat CF carrier screening should be voluntary and never

Based on the prolrle ol client populations seen most often by survey respondents. routine CF

population seeking prenatal advrca most often seek and obtain genetic services. Ol 031A`s
survey lound 70

percent ol the genetics clientele are adults ol reproductive age

Individuals who have not yet conceived are the ktaal popuatron lor screening. according to survey

results. hut lor most individuals the Urst real consideration ol screening takes place alter conception Thus,

despite survey respondents' desire that inlonnatron about the avatlablllty ol assays such as CF mutation

analysts should come trom genetic specialists, the primary responslbllity lor providing CF carrler screening

lor CF mutation analysis and its attendant counseling become pan ol routine obstetrlc care

An addnronal concem raised by those questioned tn the sunrey is the potential strain on genetics

prolessronals should the volume ol tests suddenly rise A minority ol survey respondents believe that

improved genetics training lor all health care prolessionals ls tha best method lorallevlatrng this strain

Most cite Increasing the number ot trained genetic counselors as thc best approach

Although genetic counselors and nurses ln genetics work ln a variety ol settings, they are

concentrated in metropolitan medical centers on the West coast or rn the Nonhaast Sutes with large rural

populations are less likely to be served by this group ol heatth prolessronals. says OTA.
The survey also lound a Iewanecdotal ones ol consumer dliilcultlss ln nbtalnlng ur retalnlng

health care coverage alter genetic tests, though the large majorlty ol reported cases were not lor uanler

status. but wersiorgenetlc lllnex. Elghty percent ol respondents bslleve that third parties shnuld pay im

ln additlon tothe survey results, the background paper descrlbns the nnvlrunrnent rn which the

average genetlc cuunsdor or nurse In genetlcs works, the Inirastructuve and tools available In these

prolssslonals, es well ns the slate ut practice ln the pmvlslon ni CF carrlor scveenlng,

Prospects ol rouline CF carrier screening polerlze people. es Is clear lromtne results ol the survey

OYA concludes that the value oi the CF carrier test ls the lniomurtlon it provmes

Coulee ol the 49-page background paper Generic Counseling und Wsllc Hbrosis Cerner

Screening: Results nl e Survey lor congressional use are avaliable by calllng +9241. Comes for

ncnconovesslonet use may he ordered lromttte Supcrintnndem ni Documents. U S Government Prlntlnp

Mice, Wnshlnglon, D.C. 20402-9325; phone (2¤2] 'ISSVSZJB. The GPO stock number ls ¤52-0¤3~01!D5-3.

The prlce ls $3.50.

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