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 October 25, 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 October 25, 2014).

Share This



More Science & Society News

Saturday, October 25, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Ebola Protective Suits Being Made in China

Ebola Protective Suits Being Made in China

AFP (Oct. 24, 2014) A factory in China is busy making Ebola protective suits for healthcare workers and others fighting the spread of the virus. Duration: 00:38 Video provided by AFP
Powered by NewsLook.com
WHO: Millions of Ebola Vaccine Doses by 2015

WHO: Millions of Ebola Vaccine Doses by 2015

AP (Oct. 24, 2014) The World Health Organization said on Friday that millions of doses of two experimental Ebola vaccines could be ready for use in 2015 and five more experimental vaccines would start being tested in March. (Oct. 24) Video provided by AP
Powered by NewsLook.com
Microsoft Riding High On Strong Surface, Cloud Performance

Microsoft Riding High On Strong Surface, Cloud Performance

Newsy (Oct. 24, 2014) Microsoft's Q3 earnings showed its tablets and cloud services are really hitting their stride. Video provided by Newsy
Powered by NewsLook.com
EU Gets Climate Deal, UK PM Gets Knock

EU Gets Climate Deal, UK PM Gets Knock

Reuters - Business Video Online (Oct. 24, 2014) EU leaders achieve a show of unity by striking a compromise deal on carbon emissions. But David Cameron's bid to push back EU budget contributions gets a slap in the face as the European Commission demands an extra 2bn euros. David Pollard reports. Video provided by Reuters
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