About My Health Careers Internship MedBlogs Contact us
Medindia LOGIN REGISTER
Advertisement

Implications of Genetic Screening of Disease Revealed by Study

by Medindia Content Team on September 20, 2007 at 6:37 PM
Font : A-A+

Implications of Genetic Screening of Disease Revealed by Study

Research studies confirm that some couples in Israel whose fetus screened positive for Gaucher disease, which can range from being mild and treatable to being a severe disease, decided to have the pregnancy terminated, raising questions concerning the appropriateness of certain types of genetic screenings.

"Carrier screening can reduce the burden of genetic disease, especially in populations in which specific diseases are common. Although generally performed for severe, untreatable disorders, carrier screening for less serious yet prevalent conditions is also possible, but there is little information on its implications, even though it is likely to become more common," the authors write.

Advertisement

Gaucher disease (GD) includes three diseases that are due to deficient activity of a certain enzyme. Carrier screening for GD is controversial because common type 1 GD is often asymptomatic and is usually not severe or untreatable, and the test performed does not fully predict disease severity. It is relatively frequent in Ashkenazi Jews, who have been offered screening worldwide and in Israel since 1995.

Shachar Zuckerman, M.Sc., of Shaare Zedek Medical Center, Jerusalem, and colleagues assessed various aspects of GD screening in Israel, including its scope, the screening process and outcomes.
Advertisement

Ten Israeli genetic centers provided data on the number of individuals screened for GD, the number of carriers identified, the number of carrier couples identified, and the mutations identified in these couples between January 1995 and March 2003. Carrier couples were interviewed via telephone between January 2003 and August 2004.

The researchers found that GD carrier frequency was 5.7 percent and 83 carrier couples were identified among an estimated 28,893 individuals screened. There were 82 couples at risk for offspring with type 1 GD. Seventy of 82 couples (85 percent) were at risk for asymptomatic or mildly affected offspring and 12 of 82 couples (15 percent) were at risk for moderately affected offspring.

Prenatal diagnosis was performed in 76 percent (68 of 90) pregnancies, and terminations were performed in 25 percent (4 of 16) pregnancies of fetuses with GD (2 fetuses predicted to have asymptomatic or mild GD, and 2 fetuses predicted to have moderate GD). There were significantly fewer pregnancy terminations in couples who in addition to genetic counseling had medical counseling with a GD expert (1 of 13 [8 percent] vs. 3 of 3 with no medical counseling [100 percent]).

"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 authors write.

"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.

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."

Source: Eurekalert
JAY/C
Advertisement

Advertisement
News A-Z
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Advertisement
News Category
What's New on Medindia
Memory Loss - Can it be Recovered?
International Day of Persons with Disabilities 2021 - Fighting for Rights in the Post-COVID Era
Effect of Blood Group Type on COVID-19 Risk and Severity
View all

Medindia Newsletters Subscribe to our Free Newsletters!
Terms & Conditions and Privacy Policy.

More News on:
Genetics and Stem Cells Importance of Health Screening Tests Christianson Syndrome 

Recommended Reading
FDAs Genetic Screening for Cancer Drug Needless
Researchers at the University of North Carolina have questioned the FDA's need for genetic ......
Preimplanted Genetic Screening Should Be Interpreted With Caution
According to scientist at annual conference of the European Society of Human Genetics embryos that ....
Indications for Genetic Testing
Genetic testing is primarily used for the diagnosis of a disease and for screening the carrier ......
Christianson Syndrome
Christianson syndrome is a condition that occurs due to mutations (abnormal changes) in the gene SLC...
Importance of Health Screening Tests
Health screening, along with a healthy diet and exercise, is necessary for good health and a higher ...

Disclaimer - All information and content on this site are for information and educational purposes only. The information should not be used for either diagnosis or treatment or both for any health related problem or disease. Always seek the advice of a qualified physician for medical diagnosis and treatment. Full Disclaimer

© All Rights Reserved 1997 - 2021

This site uses cookies to deliver our services. By using our site, you acknowledge that you have read and understand our Cookie Policy, Privacy Policy, and our Terms of Use