Originally Published IVD Technology May 2005
INDUSTRY NEWS
Report suggests steps toward newborn screening uniformity
Matt Grebow
A study released by the Maternal and Child Health Bureau of the Health Resources and Services Administration (HRSA) on the status of newborn screening finds that under national oversight, states could enact a more-uniform condition panel. Conducted by the American College of Medical Genetics (ACMG; Bethesda, MD) at the behest of HRSA, the report—“Newborn Screening: Toward a Uniform Screening Panel and System”—recommends 29 conditions for inclusion in a core screening panel. An additional 25 conditions were listed as secondary targets.
ACMG considered conditions to be appropriate for the panel if they had a screening test that could be conducted between 24 and 48 hours after birth, as well as “an efficacious treatment” and “an adequate knowledge of natural history.” The conditions best meeting these criteria were medium-chain acyl-CoA dehydrogenase deficiency, congenital hypothyroidism, and phenylketonuria.
Aside from isolated guidance from the Council of Regional Networks for Genetic Services and the National Committee for Clinical Laboratory Standards, no dedicated national newborn screening standards exist, according to the report. As of January 2005, 19 states, including the District of Columbia, mandated newborn screening for eight or fewer disorders. Eighteen states tested for between nine and 30 disorders, while only 14 required screening for more than 30.
The report also highlights the importance of multiplexing in newborn screening. Of the 29 core conditions listed, 23 are identified using multiplex technologies such as tandem mass spectrometry (MS/MS).
“Certainly MS/MS has been the big technology up to, and continuing, into the present time,” says R. Rodney Howell, MD, chair of the advisory committee on heritable disorders and genetic diseases in newborns and children, and a member of the newborn screening steering committee that oversaw the report. “However, there is clear evidence that companies are interested in developing technologies that will be useful for newborn screening. Among those currently are the techniques to screen for the most common mutations in areas such as cystic fibrosis. Those states currently doing newborn screening for cystic fibrosis (using as a primary test immunoreactive trypsinogen) are finding it helpful to run a second-tier test that detects the most common mutations. By adding this technique, the numbers of false-positives can be greatly reduced.”
According to Howell, companies including TM Bioscience Corp. (Toronto), Third Wave Technologies Inc. (Madison, WI), and Affymetrix Inc. (Santa Clara, CA), as well as state laboratories such as the New York State health lab in Albany, NY, have shown interest in developing newborn screening tests. This has become especially true as the technology continues to move beyond the domain of MS/MS and into molecular diagnostics. In addition, the fact that 4 million babies are tested each year—making it the most common genetic testing performed—creates an attractive financial incentive to many companies.
An executive summary of the report can be accessed via the HRSA Web site at http://mchb.hrsa.gov/screening/ summary.htm.
Copyright ©2005 IVD Technology
