Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

New UCLA study raises questions about genetic testing of newborns

07.12.2010
Mandatory genetic screening of newborns for rare diseases is creating unexpected upheaval for families whose infants test positive for risk factors but show no immediate signs of the diseases, a new UCLA study warns.

"Although newborn screening undoubtedly saves lives, some families are thrown on a journey of great uncertainty," said UCLA sociology professor Stefan Timmermans, the study's lead author.

"Rather than providing clear-cut diagnoses, screening of an entire population has created ambiguity about whether infants truly have a disease — and even what the disease is."

The study, which appears in the December issue of the Journal of Health and Social Behavior, describes these families as "the collateral damage of newborn screening," an unanticipated consequence of the expansion of mandatory screening for a wide range of conditions in 2005.

"Basically you're telling families of a newborn, 'Congratulations, but your child may have a rare genetic condition. We just don't know, and we don't know when we'll know,'" Timmermans said.

Conducted with Mara Buchbinder, who earned a doctorate in anthropology at UCLA and is now an assistant professor of social medicine at the University of North Carolina–Chapel Hill, the study paints a picture of families caught in limbo as they wait months for conclusive evidence that their children are out of the woods for conditions that have been associated with schizophrenia, mental retardation, heart and lung disease, coma and sudden death.

In many cases, the medical results never come; the children slowly age out of having risk factors for up to 29 metabolic, endocrine or hemoglobin conditions. But by that time, some families are so traumatized that they follow unwarranted and complicated regimens for years afterward, including waking their children up in the middle of the night, enforcing restrictive diets and limiting contact with other people. "Years after everything appears to be fine, parents are still very worried," Timmermans said.

For three years, Timmermans and Buchbinder followed 75 California families whose newborns received screenings that sent up red flags for diseases characterized by an inability to digest food containing fat, proteins or sugars. Of the total, 40 of the infants became what the researchers describe as "patients-in-waiting" — children who have not developed symptoms but whose genetic tests raise flags.

"The parents don't know whether their child is a false positive or they're a true positive," Timmermans said.

In one particularly poignant case of a patient-in-waiting, a father refused to allow anyone but the infant's mother to care in any way for the boy, fearing contamination that might aggravate his potential condition. More than a year after the baby's birth, the mother had not been apart from the baby. Her dream, she confessed to the researchers, was to be able one day to go on a date with her husband.

Parents of another patient-in-waiting were afraid to pursue an out-of-state job opportunity because they were uncertain about the quality of medical care that would be available for their child with potential medium-chain acyl-coenzyme A dehydrogenase deficiency (MCADD), a condition that prevents babies from being able to turn fat into energy. Without treatment, MCADD babies can experience seizures, extreme sleepiness or comas, and even die. And several parents decided either to give up a job or not return to a job in the hopes of keeping a closer eye on their children in case symptoms of the rare diseases did eventually surface.

"When the test results ultimately suggest the risk is nothing or not as significant as with patients who are symptomatic, the physicians are ready to let go of preventative measures," Timmermans said. "But the parents are reluctant to give them up because they come to believe that they're keeping their child disease-free. Over and over again, we saw parents and doctors at odds."

The genetic testing of newborns dates back four decades, when the approach showed promise in identifying phenylketonuria (PKU), a genetic disorder characterized by the body's inability to utilize an essential amino acid, phenylalanine. The disorder causes a build-up of phenylalanine in the blood, which can result in mental retardation, brain damage, seizures and other problems. But if PKU sufferers are identified early enough, they can avoid these problems through diet and medication.

The advent of new screening technologies in the late 1990s vastly increased the number of potential diseases that could be detected with a blood sample easily obtained by pricking the heel of a newborn. Genetic testing of newborns got another shot in the arm in 2005 when the American College of Medical Genetics called for mandatory screening of 29 conditions and 24 sub-conditions. By 2009, all 50 U.S. states and the District of Columbia screened for at least 21 of the 29 recommended conditions, and the full recommendations had been adopted by 44 states, including California.

Other countries have since adopted genetic screening, but they test for fewer conditions and add new conditions more slowly than the U.S. The study findings cast doubt on the medical efficacy of the battery of screenings administered widely in America, the researchers said.

"Expanded newborn screening has called into question whether screening targets correspond to actual diseases or just benign forms of human variation," Buchbinder said.

"There are many more positive screenings than were anticipated based on the incidence of the diseases in the general population," Timmermans added.

Nobody knows the number of families who fall into the patient-in-waiting category, but it is assumed to be a relatively small number. Still, the number is much larger than was anticipated when screening for a wide range of conditions began in 2005, the study argues.

The researchers also suggest the need for increasing the speed with which follow-up tests are administered so that parents of patients-in-waiting spend less time wringing their hands.

"When the American College of Medical Genetics advocated for the expansion of newborn screening, they argued that the societal benefit of newborn screening would be the avoidance of diagnostic odysseys in which parents of kids with rare diseases travel from doctor to doctor in an attempt to find out what is wrong with them," Timmermans said. "Our study shows that, in fact, the expansion of newborn screening has created a new population on diagnostic odysseys — the parents of these patients-in-waiting. Now we need to figure out how to dramatically shorten or eliminate this unexpected and stressful journey."

The research received support from the UCLA Senate and the National Science Foundation.

About the American Sociological Association and the Journal of Health and Social Behavior

The American Sociological Association (www.asanet.org), founded in 1905, is a non-profit membership association dedicated to serving sociologists in their work, advancing sociology as a science and profession, and promoting the contributions to and use of sociology by society. The Journal of Health and Social Behavior is the ASA's medical sociology journal that publishes empirical and theoretical articles that apply sociological concepts and methods to the understanding of health and illness and the organization of medicine and health care.

The research article described above is available by request for members of the media. For a copy of the full study, contact Daniel Fowler, ASA's Media Relations and Public Affairs Officer, at (202) 527-7885 or pubinfo@asanet.org.

For more information about the study, members of the media can also contact Meg Sullivan in UCLA's Office of Media Relations and Public Outreach at (310) 825-1046 or msullivan@support.ucla.edu

Daniel Fowler | EurekAlert!
Further information:
http://www.asanet.org

More articles from Studies and Analyses:

nachricht Real-time feedback helps save energy and water
08.02.2017 | Otto-Friedrich-Universität Bamberg

nachricht The Great Unknown: Risk-Taking Behavior in Adolescents
19.01.2017 | Max-Planck-Institut für Bildungsforschung

All articles from Studies and Analyses >>>

The most recent press releases about innovation >>>

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

Im Focus: Breakthrough with a chain of gold atoms

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

Im Focus: DNA repair: a new letter in the cell alphabet

Results reveal how discoveries may be hidden in scientific “blind spots”

Cells need to repair damaged DNA in our genes to prevent the development of cancer and other diseases. Our cells therefore activate and send “repair-proteins”...

Im Focus: Dresdner scientists print tomorrow’s world

The Fraunhofer IWS Dresden and Technische Universität Dresden inaugurated their jointly operated Center for Additive Manufacturing Dresden (AMCD) with a festive ceremony on February 7, 2017. Scientists from various disciplines perform research on materials, additive manufacturing processes and innovative technologies, which build up components in a layer by layer process. This technology opens up new horizons for component design and combinations of functions. For example during fabrication, electrical conductors and sensors are already able to be additively manufactured into components. They provide information about stress conditions of a product during operation.

The 3D-printing technology, or additive manufacturing as it is often called, has long made the step out of scientific research laboratories into industrial...

Im Focus: Mimicking nature's cellular architectures via 3-D printing

Research offers new level of control over the structure of 3-D printed materials

Nature does amazing things with limited design materials. Grass, for example, can support its own weight, resist strong wind loads, and recover after being...

Im Focus: Three Magnetic States for Each Hole

Nanometer-scale magnetic perforated grids could create new possibilities for computing. Together with international colleagues, scientists from the Helmholtz Zentrum Dresden-Rossendorf (HZDR) have shown how a cobalt grid can be reliably programmed at room temperature. In addition they discovered that for every hole ("antidot") three magnetic states can be configured. The results have been published in the journal "Scientific Reports".

Physicist Dr. Rantej Bali from the HZDR, together with scientists from Singapore and Australia, designed a special grid structure in a thin layer of cobalt in...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Booth and panel discussion – The Lindau Nobel Laureate Meetings at the AAAS 2017 Annual Meeting

13.02.2017 | Event News

Complex Loading versus Hidden Reserves

10.02.2017 | Event News

International Conference on Crystal Growth in Freiburg

09.02.2017 | Event News

 
Latest News

Switched-on DNA

20.02.2017 | Materials Sciences

Second cause of hidden hearing loss identified

20.02.2017 | Health and Medicine

Prospect for more effective treatment of nerve pain

20.02.2017 | Health and Medicine

VideoLinks
B2B-VideoLinks
More VideoLinks >>>