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.

Related Articles


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 December 22, 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 December 22, 2014).

Share This


More From ScienceDaily



More Science & Society News

Monday, December 22, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Can Bitcoin Survive 2015?

Can Bitcoin Survive 2015?

Newsy (Dec. 22, 2014) Bitcoin's stock has tumbled significantly this year, but more companies now accept it, leading supporters and critics alike to weigh in on its future. Video provided by Newsy
Powered by NewsLook.com
Could Cheap Oil Help Fix U.S. Roads?

Could Cheap Oil Help Fix U.S. Roads?

Newsy (Dec. 21, 2014) As falling oil prices boost Americans' spending power, the U.S. government is also gaining flexibility from savings on oil. Video provided by Newsy
Powered by NewsLook.com
After Sony Hack, What's Next?

After Sony Hack, What's Next?

Reuters - US Online Video (Dec. 19, 2014) The hacking attack on Sony Pictures has U.S. government officials weighing their response to the cyber-attack. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
Sierra Leone Bikers Spread the Message to Fight Ebola

Sierra Leone Bikers Spread the Message to Fight Ebola

AFP (Dec. 19, 2014) More than 100 motorcyclists hit the road to spread awareness messages about Ebola. Nearly 7,000 people have now died from the virus, almost all of them in west Africa, according to the World Health Organization. Video provided by AFP
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:

Strange & Offbeat Stories


Science & Society

Business & Industry

Education & Learning

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