Newborn Screening News and Research

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NBSTRN develops new tool for newborn screening researchers

After one-and-a-half years of intense development, end-user testing, a successful pilot, and through a contract to the American College of Medical Genetics and Genomics (ACMG) from the Eunice Kennedy Shriver National Institute of Child Health and Human Development, the Newborn Screening Translational Research Network (NBSTRN) Coordinating Center has developed a centralized, web-based virtual repository of newborn dried blood spots (DBS) as an indispensable tool for newborn screening researchers.

27 Sep 2012

Excess maternal iodine supplementation can lead to congenital hypothyroidism in infants

Congenital hypothyroidism is thyroid hormone deficiency at birth that, if left untreated, can lead to neurocognitive impairments in infants and children. Although the World Health Organization recommends 200-300 -g of iodine daily during pregnancy for normal fetal thyroid hormone production and neurocognitive development, the US Institute of Medicine considers 1,100 -g to be the safe upper limit for daily ingestion.

26 Jul 2012

Parents must be considered during expansion of genetic screening programs for newborns

Parents must be considered when states decide to expand genetic screening programs for newborns, according to a new study that looked at mandatory testing panels and political pressure by advocacy groups.

22 Jun 2012

Quest Diagnostics introduces four new tests panels for CAH

Quest Diagnostics, the world's leading provider of diagnostic testing, information and services, has extended its endocrine diagnostics menu with the introduction of four new tests panels for congenital adrenal hyperplasia (CAH), an endocrine disorder found in newborns, children and women.

From Quest Diagnostics 19 May 2012

La. panel kills health exchange plan; Kansas enacts another abortion hurdle; Utah official resigns after medical records breach

With a decisive 8-1 vote late Tuesday evening, the Louisiana Senate Finance Committee buried a bill that would have set up a body of elected and appointed officials to craft the exchanges that are an anchor of President Barack Obama's health insurance overhaul. With the death of Senate Bill 744, Louisiana remains one of a handful of states that have refused to set up their own exchanges, with Gov. Bobby Jindal punting the job back to federal government that he accuses of taking over the American health care system

17 May 2012

Scientists are working out how sequencing the human genome can help treat disease

Though the human genome has been sequenced, scientists are still trying to figure out how the accomplishment can help people, for example, how it can be used to treat disease. As University of Massachusetts Amherst geneticist Jacob Mayfield notes, "It was easy to think of the human genome as the big prize, but what we realize now is, it's just a foot in the door."

2 May 2012

State roundup: Union seeks $80M from N.Y. for health aides' insurance

As Gov. Andrew Cuomo and lawmakers lurch toward a budget deal, the state's largest health-care union is asking Albany for another bailout of its troubled insurance fund. The union, 1199SEIU United Healthcare Workers East, is asking the state for $80 million more in Medicaid dollars so it can keep on providing health insurance to personal-care aides.

23 Mar 2012

Drexel experts available to comment for news stories about autism

Experts at Drexel University are available to comment for news stories about autism for Autism Awareness Month in April. Drexel recently established the A.J. Drexel Autism Institute, the nation's first autism center focused on public health science.

22 Mar 2012

New three-step process for DMD newborn screening

Investigators at Nationwide Children's Hospital, working with the DNA Sequencing Core Facility at the University of Utah, have developed an approach to newborn screening (NBS) for the life-threatening genetic disorder, Duchenne muscular dystrophy (DMD) and potentially other muscular dystrophies.

20 Mar 2012

AHRQ grants U-M $2.5M to study long-term health outcomes and cost-effectiveness of newborn screening

University of Michigan researchers will use a $2.5 million grant from the Agency for Healthcare Research and Quality to study long-term health outcomes and cost-effectiveness of newborn screening.

2 Mar 2012

Cities, states balancing health costs amid continuing economic problems

Some 29 states are dealing with a total budget deficit of $47 billion for fiscal 2013, according to the Center on Budget and Policy Priorities. Unlike the federal government, nearly all states must balance their budgets every year. Though tax revenues are slowly recovering after bottoming out in 2010, they're still not back to pre-recession levels.

2 Mar 2012

Earlier detection of Fragile X syndrome made possible

Now families children with fragile X syndrome may have a chance of earlier detection and intervention. The Murdoch Children's Research Institute breakthrough could allow newborn screening of the world's most common cause of inherited developmental disability. The research findings were published in the journal Clinical Chemistry.

19 Jan 2012

Pediatric research project to expand data collection linked to newborn screening results

Within the first days of life, screening tests are performed on all newborns born in the U.S. to identify rare and often life-threatening medical conditions that are not apparent at birth. These newborn screening programs have been operating for decades, permitting doctors to intervene early and improve outcomes in potentially devastating conditions.

18 Jan 2012

Study may help personalize pain medication management for sickle cell disease patients

A study that may help personalize pain medication management for sickle cell disease patients is underway at Georgia Health Sciences University.

9 Dec 2011

State roundup: Wis. insurance savings; N.Y. major hospital merger possible; psychiatric hospitals' hard times

Minnesota Gov. Mark Dayton claimed the first major success of his drive to improve government efficiency Thursday, saying a competitive-bidding process for state health insurance programs will save $242 million in the next two years. …. Republicans, who control the state House and Senate, launched an extension of their own government-efficiency plans - labeled "Reform 2.0" - in August.

22 Oct 2011

Children with false-positive screening results do not have more health care visits

There has been longstanding concern among physicians and policymakers that false-positive results may cause parents to believe that their children are vulnerable to illness, leading them to overuse health care services as their children grow older.

20 Sep 2011

Pulse oximetry to detect birth defects: Doctors propose nationwide screening

According to a recommendation by a federal advisory panel, before newborns leave the hospital, they should receive a simple, pain-free test to check for signs of congenital heart disease, one of the most common types of birth defects.

23 Aug 2011

SACHDNC presents new recommendations for storing dried newborn blood specimens

The states should develop clear and open policies regarding retention and research uses of dried blood spot specimens left over from newborn screening, according to a new set of "recommendations for national guidance" published in Genetics in Medicine, the official peer-reviewed journal of The American College of Medical Genetics.

30 Jul 2011

UMMS announces two-year contract to provide newborn screening services in Maine

The University of Massachusetts Medical School (UMMS) today announced a new two-year contract to continue to provide newborn screening services to the state of Maine.

29 Jul 2011

Pacific Biosciences, Mount Sinai collaborate to advance genomic research

Mount Sinai School of Medicine and Pacific Biosciences of California, Inc. announced a bi-coastal collaboration to advance clinical research through the Mount Sinai Institute for Genomics and Multiscale Biology to be led by Eric E. Schadt, Ph.D.

16 May 2011