Cystic Fibrosis Gene Test Offered

[Guest guest]

My sister lives in Kansas (who is pregnant right now there first one) and her

husband is adopted and doesn't know his history at all she asked about being

tested and they told them her insurance wouldn't cover it so they are not

going to get the test done because of the cost. I wonder if it will be

offered in other states? Deb

[Guest guest]

Cystic Fibrosis Gene Test Offered

By LAURAN NEERGAARD

..c The Associated Press

WASHINGTON (AP) - Gene testing is going mainstream: Starting this month,

tens of thousands of white Americans will be offered testing to see if they

carry a gene mutation that causes cystic fibrosis even if no one in their

family has the disease.

Under new guidelines, obstetricians and gynecologists are supposed to offer

the gene test to every Caucasian - or the partner of a Caucasian - who is

pregnant or considering having a baby.

It marks the first time gene tests are being offered to the general

population. Until now, they have been recommended just for small groups of

people who know they're at high risk for a particular inherited disease,

such as when an illness runs in the family.

Are we ready for mainstream gene tests? The American College of

Obstetricians and Gynecologists is betting that with a little education,

Americans will be savvy enough medical consumers that the screening will

prove a boon.

To help expectant couples decide whether to accept the test, the group has

prepared easy-to-understand educational pamphlets - available from your

doctor - explaining cystic fibrosis, how gene testing works, and the

relevance of parents-to-be discovering they have the gene mutations that

cause it.

Babies must inherit a bad gene from both parents to have the disease, so if

the mother has a mutation, the dad must be tested, too.

``It's something patients have to decide - do they want it or not,''

stresses Dr. Mennuti of the University of Pennsylvania, who

co-authored the testing guidelines.

About 30,000 American children and young adults are living with cystic

fibrosis. It attacks their lungs, clogging them with a thick mucus, and can

harm digestion and vitamin absorption by clogging the pancreas and

intestines.

Treatment has improved in recent years, lengthening life span. Still,

patients typically die in their 30s, most from lung damage or infection.

Why test so many parents? While it can affect anybody, cystic fibrosis is

the most common inherited disease among Caucasians. People can carry the

defective gene without knowing it - more than 10 million Americans do,

including one in every 29 whites.

But because there are so many unsuspecting carriers, most babies with the

disease are born into families that didn't know they were at risk. If both

parents harbor the defective gene, they have a one-in-four chance of having

a baby with the incurable disease.

``The vast majority of couples will get reassuring news,'' that they aren't

carriers, notes Dr. Francis of the National Institutes of Health,

who co-discovered the gene in 1989.

Testing is best done before a woman gets pregnant, he says. If both parents

are carriers, they might opt for in vitro fertilization, for instance, where

the resulting embryos can be tested for the disease and only healthy ones

are implanted into the mother's uterus.

If parents learn they are carriers early in pregnancy, the fetus can be

tested. If the fetus does have it, abortion is one option - but many such

parents do as patients of Dr. Debra Baseman recently did: They spent the

months of pregnancy learning about top-notch care and lining up specialists

for their child. Very early care, especially nutritional care, keeps many

patients healthier longer.

Parents often say, ``the medications are good, the life span is longer, and

who knows what medications will be around in 5 or 10 years,'' said Baseman,

a Princeton, N.J., obstetrician who has offered routine screening for cystic

fibrosis for several years and says about three-fourths of her patients

accept it.

The guidelines say the test should not be restricted to Caucasians. While

they are the main target because of their higher risk, the test should be

available to anyone who wants it. One in 46 Hispanics carry the bad gene, as

do one in 62 blacks and one in 90 Asian Americans.

A test typically costs about $265; doctors say many insurers do pay for it.

The test is good but not 100 percent accurate. There are about 1,000 known

mutations in the gene that causes it, and the new guidelines advise test

laboratories to check for a minimum of the 25 most common. Genzyme Corp.,

the largest test provider, typically tests for 87 mutations.

How well this widespread gene testing works will influence how other gene

tests are introduced to Americans.

``It will be very important to see how this goes,'' says.

``Certainly it requires the obstetricians to become more familiar with

genetics than many of them have previously had occasion to do.''

EDITOR'S NOTE - n Neergaard covers health and medical issues for The

Associated Press in Washington.

On the Net:

American College of Obstetricians and Gynecologists: http://www.acog.org

Cystic Fibrosis Foundation: http://www.cff.org

AP-NY-10-01-01 2153EDT

Copyright 2001 The Associated Press. The information contained in the AP

news report may not be published, broadcast, rewritten or otherwise

distributed without the prior written authority of The Associated Press.

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