Navigation Links
Study Questions Genetic Screening for Treatable Diseases
Date:9/18/2007

In some cases, parents opt for abortion when symptoms may be mild, study finds

TUESDAY, Sept. 18 (HealthDay News) -- Some Israeli couples with fetuses that tested positive for Gaucher disease, an inherited condition that can range from mild and treatable to severe, chose abortions, raising questions about the use of certain types of genetic screenings, a new study suggests.

The study authors also question the use of genetic screening for other kinds of mild hereditary disorders.

Gaucher disease (GD) includes three diseases caused by deficient activity of a certain enzyme. Common type 1 Gaucher disease often causes no symptoms and is usually not severe and can be treated, the researchers said.

According to the National Gaucher Foundation, the most common symptoms of the disease are enlarged livers and spleens; anemia; reduced platelets that can result in easy bruising and clotting difficulties; bone "infarctions" that can lead to damage to the shoulder or hip joints; and a generalized "demineralization" of the bones, or osteoporosis. This can lead to spontaneous fractures.

Gaucher disease is relatively common in Ashkenazi Jews, who have been offered screening worldwide and in Israel since 1995, according to background information in the study.

But the use of this screening is controversial, because the test does not fully predict the severity of the disease. Even so, some couples decide to abort a fetus if it tests positive for Gaucher disease, the researchers noted in the Sept. 19 issue of the Journal of the American Medical Association.

In the study, a team led by Shachar Zuckerman of Shaare Zedek Medical Center in Jerusalem analyzed data from 10 Israeli medical centers that offered Gaucher disease screening. From January 1995 to March 2003, there were about 28,893 people screened at the centers. Of those, there were 83 GD carrier couples. The GD carrier frequency was 5.7 percent.

There were 82 couples at risk for children with type 1 GD. Seventy of the 82 couples (85 percent) were at risk for asymptomatic or mildly affected children, and 12 of the 82 couples (15 percent) were at risk for moderately affected children, the study found.

Prenatal diagnosis was performed in 68 of 90 (76 percent) pregnancies, and pregnancies were terminated in four of 16 (25 percent) cases of fetuses with Gaucher disease. Of the four aborted fetuses, two were predicted to have asymptomatic, or mild GD, and two were predicted to have moderate disease.

The study found that there were far fewer pregnancy terminations among couples who, in addition to receiving genetic counseling, also had medical counseling with a Gaucher disease expert -- one of 13 (eight percent) of pregnancies, compared with three of three (100 percent) among couples who did not receive medical counseling.

"With respect to the stated goal of carrier screening programs, the main practical outcome of GD screening was a 66 percent reduction in birth prevalence for moderate type 1 GD, for which the estimated frequency is 1 in 27,000, and a 15 percent reduction in the birth prevalence of asymptomatic or mild type 1 GD, for which the estimated frequency is 1 in 1,300. This was achieved through termination of pregnancy of fetuses either treatable or likely to be asymptomatic, and it is debatable whether this represents a true benefit," the study authors wrote.

They noted that the Israeli Medical Geneticists Association has recommended against Gaucher disease screening.

In an accompanying editorial in the journal, Dr. Ernest Beutler, of the Scripps Research Institute in La Jolla, Calif., said, "Not until clinicians and researchers better understand the factors that determine whether a patient homozygous for the N370S (GD) mutation will develop severe disease or none at all will screening for Gaucher disease become useful. Until then, screening for Gaucher disease will likely do more harm than good."

Zuckerman and his colleagues also questioned the use of genetic screening for other mild hereditary conditions.

"Applying the classic carrier screening paradigm to common, low-penetrance disease leads to inevitable dilemmas, and programs offering such screening should determine whether the true goal is knowledge and presymptomatic risk assessment or pregnancy termination of fetuses with a specified genetic status," the researchers wrote.

"Our results suggest that to avoid termination of pregnancies for generally mild conditions, even in a highly educated population, screening programs would require a combination of traditional, nondirective genetic counseling with medical counseling by professionals familiar with the specific diseases," they concluded.

More information

To learn more about Gaucher disease, visit the National Gaucher Foundation.



-- Robert Preidt



SOURCE: JAMA/Archives journals, news release, Sept. 17, 2007


'/>"/>
Copyright©2007 ScoutNews,LLC.
All rights reserved

Related medicine news :

1. Rural Canadians travel far for specialists: study
2. A new study surpasses Gene Therapy Hurdle
3. Tomato Sauce reduces Cancer Risk- Study
4. A question on study of Adult Stem Cell
5. Study on obesity and heart failure
6. National Lung Study in the process
7. Marijuana gateway theory strengthened by study of twins
8. Old theory of adaptation confirmed by new study
9. Study casts doubt on keyboard ills
10. Gene study links endometriosis, infertility
11. Study reveals how stress can make you sick
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:12/7/2016)... ... December 07, 2016 , ... Facial plastic surgeon, Dr. John D. ... donating a portion of proceeds to two local organizations: North Chicago Animal Control and ... Friends is a team of authorized and trained volunteers who support rescued animals ...
(Date:12/7/2016)... ... ... The medical profession is well aware that heart attacks do indeed increase ... attacks among 138,602 people recorded a 35% higher number of heart attacks in December ... course–no time of year is a good time for a heart attack! In the ...
(Date:12/7/2016)... ... December 07, 2016 , ... Maureen ... Program at Reproductive Medicine Associates of Connecticut (RMACT). McLaughlin brings nearly 20 years ... three acupuncturists to help patients realize their family building goals. Acupuncture helps ...
(Date:12/7/2016)... ... 07, 2016 , ... “Fred Rides a Train” allows readers to tag along ... “Fred Rides a Train” is the creation of published author, Janet Morrison, who has ... in Michigan. The "Fred, the Dog" series is her first attempt at writing for ...
(Date:12/7/2016)... ... 07, 2016 , ... NuevaCare, a leading home care agency based in San ... city-specific pages as part of its ambitious website relaunch. As Bay Area clients scramble ... local agencies serving their city. The new site has several key city-specific pages to ...
Breaking Medicine News(10 mins):
(Date:12/6/2016)... Dec. 6, 2016 Radioisotopes are radioactive isotopes ... produced either by using nuclear research reactor or by ... of alpha, beta or gamma when changed to a ... in Nuclear medicine, specifically in medical diagnostics. In this ... about a human body,s functioning. Radiotherapy is also used ...
(Date:12/6/2016)... LONDON , Dec. 6, 2016 ... report provides in-depth region wise and country wise ... this report include manufacturers of human vaccines products, ... players planning to enter the market. The ... global human vaccines market. Qualitative analysis comprises market ...
(Date:12/6/2016)... BOLTON, Miss. , Dec. 6, 2016 ... and rescue personnel in a simulated mass casualty event ... Mississippi . The technology debuted before an audience ... Bryant and representatives from Homeland Security, Federal Law ... Telemedical Drone Project, known as HiRO (Health Integrated Rescue ...
Breaking Medicine Technology: