Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Newborn screening is cost-effective in detecting rare but treatable genetic disease

03.11.2003


Screening newborns for a rare but treatable genetic disease benefits families and society, according to a team of pediatricians and health care economists who analyzed patient records and data from mass screening programs in several states. The study appears in the November issue of Pediatrics.



The researchers, from The Children’s Hospital of Philadelphia and The University of Pennsylvania School of Medicine, analyzed the cost-effectiveness of screening for medium-chain acyl-CoA-dehydrogenase deficiency, or MCADD. An inherited metabolic disease that impairs energy production from stores of body fat, MCADD may go undetected until it causes childhood death or brain damage.

"Our research showed that screening newborns for MCADD is cost-effective compared to not screening," said Charles P. Venditti, M.D., Ph.D., the study’s corresponding author. "Furthermore, as automated screening technology continues to enable expanded newborn screening for many genetic diseases, we may find similar benefits for other diseases." (A specialist in pediatric biochemical genetics at the University of Pennsylvania and The Children’s Hospital of Philadelphia during the period of the study, Dr. Venditti is now at the National Human Genome Research Institute of the National Institutes of Health.)


Drawing on records of 32 patients with MCADD treated at Children’s Hospital over a 30-year period, the researchers compared results for two hypothetical groups of patients, one that did not undergo newborn screening, another group that did receive the screening. Using decision-modeling methods, the researchers computed the costs of hospitalizations and lifetime medical services for chronic disease. "We found the cost of newborn screening for MCADD to be well below the accepted costs for other health care interventions, such as acute newborn intensive care or newborn hearing screening," said Dr. Venditti.

The current study considered the use of a recent technology called tandem mass spectrometry (TMS), which employs automated technology to detect particular biochemicals in a sample of newborn blood. An abnormally high value for certain fatty acids, amino acids or other chemicals may signal a genetic defect in how the body processes food. TMS can screen for more than 30 metabolic diseases. Many of these diseases are rare, but collectively they affect one in 4,000 newborns, approximately the same percentage affected by Down syndrome.

Routine newborn screening has been carried out in all 50 states since the 1970s for genetic diseases such as phenylketonuria (PKU) and congenital hypothyroidism, with a handful of other diseases added over the years on a state-by-state basis. The recent development of the TMS technique has greatly expanded the number of diseases that can be detected, but less than half of U.S. newborns receive TMS testing. TMS uses the same sample of blood required for the conventional screening tests.

Based on TMS statistics, the authors estimate MCADD to occur in 1 in 15,000 newborns, making it equally as common as PKU. Both diseases are devastating if untreated, but when managed, allow patients a normal quality of life.

"MCADD is a particularly sneaky disorder," said Charles A. Stanley, M.D., senior author of the study and chief of Endocrinology at The Children’s Hospital of Philadelphia. "A child with undetected MCADD can be perfectly normal, then get a viral illness and stop eating. After 12 hours of fasting, a child can become extremely ill and go into a life-threatening crisis. The MCADD defect interferes with metabolizing fat that the child needs for producing energy." The metabolic crisis can inflict heart failure, brain damage or even death. Some unexpected infant deaths, first attributed to sudden infant death syndrome, were later found to be the result of previously undiagnosed MCADD.

Dr. Stanley led the Children’s Hospital research team that discovered MCADD in 1983, simultaneously with independent reports from the University of Iowa and researchers in Denmark. It was the first fatty acid oxidation defect to be identified. Over the years, he has followed some two dozen patients with MCADD, some of whom had severe outcomes. He added, "I’m delighted to see a screening program applied to this very treatable disorder."

"Unlike some other metabolic diseases," say the study’s authors, "the complications of MCADD are preventable." Parents and caregivers who know a child has MCADD must be vigilant that the child does not miss feedings. If a child cannot eat for some reason, parents bring the child to a hospital to receive intravenous nourishment and prevent disease complications.

When the researchers projected their cost model over a 70-year period, they predicted that the savings obtained by avoiding the medical costs of undiagnosed disease would offset nearly all the additional costs of screening for MCADD. "It is plausible that newborn screening might even provide net savings to society, compared to the costs of not screening," said Dr. Venditti. "For instance, some studies suggest that people with asymptomatic MCADD, who have less severe forms of the disease than we find in children, may have higher risks of death and illness than people without MCADD. At the present time, we are not certain how many patients exist in this category."

In addition to Drs. Venditti and Stanley, other co-authors were Laura Venditti, M.Sc., and Henry Glick, Ph.D., both health economists from the University of Pennsylvania School of Medicine; and Gerard Berry, M.D., Paige Kaplan, M.D., and Edward Kaye, M.D., of the Division of Human Genetics and Molecular Biology at The Children’s Hospital of Philadelphia.

John Ascenzi | EurekAlert!
Further information:
http://www.chop.edu.

More articles from Health and Medicine:

nachricht Millions through license revenues
27.04.2017 | Rheinische Friedrich-Wilhelms-Universität Bonn

nachricht New High-Performance Center Translational Medical Engineering
26.04.2017 | Fraunhofer ITEM

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Making lightweight construction suitable for series production

More and more automobile companies are focusing on body parts made of carbon fiber reinforced plastics (CFRP). However, manufacturing and repair costs must be further reduced in order to make CFRP more economical in use. Together with the Volkswagen AG and five other partners in the project HolQueSt 3D, the Laser Zentrum Hannover e.V. (LZH) has developed laser processes for the automatic trimming, drilling and repair of three-dimensional components.

Automated manufacturing processes are the basis for ultimately establishing the series production of CFRP components. In the project HolQueSt 3D, the LZH has...

Im Focus: Wonder material? Novel nanotube structure strengthens thin films for flexible electronics

Reflecting the structure of composites found in nature and the ancient world, researchers at the University of Illinois at Urbana-Champaign have synthesized thin carbon nanotube (CNT) textiles that exhibit both high electrical conductivity and a level of toughness that is about fifty times higher than copper films, currently used in electronics.

"The structural robustness of thin metal films has significant importance for the reliable operation of smart skin and flexible electronics including...

Im Focus: Deep inside Galaxy M87

The nearby, giant radio galaxy M87 hosts a supermassive black hole (BH) and is well-known for its bright jet dominating the spectrum over ten orders of magnitude in frequency. Due to its proximity, jet prominence, and the large black hole mass, M87 is the best laboratory for investigating the formation, acceleration, and collimation of relativistic jets. A research team led by Silke Britzen from the Max Planck Institute for Radio Astronomy in Bonn, Germany, has found strong indication for turbulent processes connecting the accretion disk and the jet of that galaxy providing insights into the longstanding problem of the origin of astrophysical jets.

Supermassive black holes form some of the most enigmatic phenomena in astrophysics. Their enormous energy output is supposed to be generated by the...

Im Focus: A Quantum Low Pass for Photons

Physicists in Garching observe novel quantum effect that limits the number of emitted photons.

The probability to find a certain number of photons inside a laser pulse usually corresponds to a classical distribution of independent events, the so-called...

Im Focus: Microprocessors based on a layer of just three atoms

Microprocessors based on atomically thin materials hold the promise of the evolution of traditional processors as well as new applications in the field of flexible electronics. Now, a TU Wien research team led by Thomas Müller has made a breakthrough in this field as part of an ongoing research project.

Two-dimensional materials, or 2D materials for short, are extremely versatile, although – or often more precisely because – they are made up of just one or a...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Fighting drug resistant tuberculosis – InfectoGnostics meets MYCO-NET² partners in Peru

28.04.2017 | Event News

Expert meeting “Health Business Connect” will connect international medical technology companies

20.04.2017 | Event News

Wenn der Computer das Gehirn austrickst

18.04.2017 | Event News

 
Latest News

Wireless power can drive tiny electronic devices in the GI tract

28.04.2017 | Medical Engineering

Ice cave in Transylvania yields window into region's past

28.04.2017 | Earth Sciences

Nose2Brain – Better Therapy for Multiple Sclerosis

28.04.2017 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>