Featured Research

from universities, journals, and other organizations

Is prenatal screening for rare diseases like spinal muscular atrophy too costly?

Date:
March 8, 2010
Source:
Elsevier Health Sciences
Summary:
Spinal Muscular Atrophy affects approximately 1 in 10,000 live births and is the leading genetic cause of infant mortality and the second most common autosomal recessive disorder, after cystic fibrosis. Although the American College of Medical Genetics recommends carrier testing for all couples, the American College of Obstetricians and Gynecologists has issued a recommendation to the contrary.

Spinal Muscular Atrophy (SMA) is one of many serious disorders for which prenatal testing is available. SMA affects approximately 1 in 10,000 live births and is the leading genetic cause of infant mortality and the second most common autosomal recessive disorder, after cystic fibrosis. Although the American College of Medical Genetics recommends carrier testing for all couples, the American College of Obstetricians and Gynecologists has issued a recommendation to the contrary, citing lack of information about the costs and benefits of screening for SMA.

An article which may shed light on this controversy appears in the March 2010 issue of the American Journal of Obstetrics & Gynecology.

Using a decision analytic model, the authors found that 12,500 women need to be screened to prevent one case of SMA, at a cost of $5 million per case averted. They also determined that at $4.9 million per Quality-Adjusted Life Year (QALY), such screening was not cost-effective. Maternal QALY was used to measure the combined effects of caring for a child who suffers from the disease with resultant premature death and disability.

The cost of the procedures involved, maternal and paternal genetic testing, fetal amniocentesis and genetic testing of fetal cells, were all estimated from data published in the literature. The model assumed that couples with a positive fetal test would elect pregnancy termination. Lifetime costs of caring for an affected child were estimated from costs for similar diseases documented in the medical literature. All costs were adjusted to 2009 dollars using the Consumer Price Index.

The authors found that the cost per case averted was the most influenced by the baseline prevalence of disease in the population screened. For those couples with a higher prevalence, such as those with a family history of disease, screening may be a cost-effective strategy.

Writing in the article, Sarah E. Little, MD, Department of Obstetrics and Gynecology, Massachusetts General Hospital, Boston, and co-authors state that "our estimated cost per added QALY falls far beyond what is usually considered to be cost effective. SMA screening does not approach the cost-effective range ($50-100,000/QALY) until the cost of severe disease is over $7 million or the cost of the mild disease is over $17 million, both of which are more than 20 times the baseline estimates. As such, we feel there is little chance that the basic finding that universal SMA testing is not cost effective would change appreciably with different model inputs."


Story Source:

The above story is based on materials provided by Elsevier Health Sciences. Note: Materials may be edited for content and length.


Journal Reference:

  1. Little et al. 65: The cost-effectiveness of prenatal screening for spinal muscular atrophy. American Journal of Obstetrics and Gynecology, 2009; 201 (6): S37 DOI: 10.1016/j.ajog.2009.10.080

Cite This Page:

Elsevier Health Sciences. "Is prenatal screening for rare diseases like spinal muscular atrophy too costly?." ScienceDaily. ScienceDaily, 8 March 2010. <www.sciencedaily.com/releases/2010/03/100308102209.htm>.
Elsevier Health Sciences. (2010, March 8). Is prenatal screening for rare diseases like spinal muscular atrophy too costly?. ScienceDaily. Retrieved September 20, 2014 from www.sciencedaily.com/releases/2010/03/100308102209.htm
Elsevier Health Sciences. "Is prenatal screening for rare diseases like spinal muscular atrophy too costly?." ScienceDaily. www.sciencedaily.com/releases/2010/03/100308102209.htm (accessed September 20, 2014).

Share This



More Science & Society News

Saturday, September 20, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

The Cost of Ebola

The Cost of Ebola

Reuters - Business Video Online (Sep. 18, 2014) As Sierra Leone prepares for a three-day "lockdown" in its latest bid to stem the spread of Ebola, Ciara Lee looks at the financial implications of fighting the largest ever outbreak of the disease. Video provided by Reuters
Powered by NewsLook.com
U.S. Food Makers Surpass Calorie-Cutting Pledge

U.S. Food Makers Surpass Calorie-Cutting Pledge

Newsy (Sep. 18, 2014) Sixteen large food and beverage companies in the United States that committed to cut calories in their products far surpassed their target. Video provided by Newsy
Powered by NewsLook.com
Stocks Hit All-Time High as Fed Holds Steady

Stocks Hit All-Time High as Fed Holds Steady

AP (Sep. 17, 2014) The Federal Reserve signaled Wednesday that it plans to keep a key interest rate at a record low because a broad range of U.S. economic measures remain subpar. Stocks hit an all-time high on the news. (Sept. 17) Video provided by AP
Powered by NewsLook.com
Some Tobacco Farmers Thrive Amid Challenges

Some Tobacco Farmers Thrive Amid Challenges

AP (Sep. 16, 2014) The South's tobacco country is surviving, and even thriving in some cases, as demand overseas keeps growers in the fields of one of America's oldest cash crops. (Sept. 16) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins