Pediatric geneticist Piero Rinaldo, M.D., Ph.D., presented the findings at the annual meeting of the American Association for the Advancement of Science (AAAS) in Washington, D.C.

Dr. Rinaldo said that tandem mass spectrometry a multiplex platform available to screen for upwards of 40 potentially life-threatening genetic diseases is not in use in many states. The inconsistent use of existing technology at the state level means that children born in some states will not be diagnosed until it is too late, Dr. Rinaldo explained. In nearly all cases, immediate treatment for recognized genetic diseases can improve or cure infants' conditions. If undiagnosed in the first few days after birth, some conditions can kill or cause irreversible brain damage.

In addition to unresolved issues of lack of uniformity and fairness, Dr. Rinaldo addressed the problem of inconsistent performance at the analytical level leading to significant variability in quality parameters, for example false positive rate and positive predictive value. He argued that better performance could be achieved by the addition of second-tier analyses. These are biochemical and/or molecular confirmatory tests performed on the same blood spot collected at birth. The advantage of testing the specimen already available, instead of requesting a repeat collection or a blood sample, is to prevent the anxiety and stress that families would experience until the initial screening results on their infants are shown to be false.

Dr. Rinaldo told conference attendees that Mayo Clinic cooperated with the Minnesota Department of Health to develop a secondary analysis of the false positives that all but eliminated the prob
'"/>

Contact: Bob Nellis
newsbureau@mayo.edu
507-284-5005
Mayo Clinic
21-Feb-2005