142nd APHA Annual Meeting and Exposition

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Newborn screening in the NICU: Traditional methods vs. whole genome sequencing

142nd APHA Annual Meeting and Exposition (November 15 - November 19, 2014): http://www.apha.org/events-and-meetings/annual
Monday, November 17, 2014

Dale Bodian, PhD , Inova Translational Medicine Institute, Falls Church, VA
Elisabeth Klein, DNP, MSN, CNS , Inova Translational Medicine Institute, Inova Health System, Falls Church, VA
Kathi Huddleston, PhD, RN, MSN, CNS, CCRC , Inova Translational Medicine Institute, Inova Health System, Falls Church, VA
Background:  Newborn Screening (NBS) programs identify infants at risk for treatable genetic diseases before the effects make the infant ill.  Millions of infants are tested with few actually being found to have disease.  While most infants have a single test, premature infants in neonatal intensive care units (NICU) frequently have multiple tests performed before a final result is obtained.  NBS by whole genome sequencing (WGS) may provide the ability to perform a single test which will reduce the uncertainty in the NICU population.

Objective:  Compare NBS results obtained by standard state testing with results from WGS.

Results:  A cohort of over 700 family trios was recruited into a study exploring genomic correlations to pregnancy outcome and child health. From this cohort, we analyzed state NBS results and compared them with their WGS to distinguish true and false positives.  Vast majority (82%) of false positive NBS findings was in premature infants.   NBS protocols for the NICU require the majority of extremely premature infants have multiple tests, creating additional blood collection from this very vulnerable population.  The incidence of an infant requiring multiple NBS collections was inversely proportionate to the gestation age.  Often in the NICU confirmatory laboratory tests are requested to due to the conundrum.  WGS results agreed with most of the state NBS results, with WGS identifying carrier status.  

Conclusion:  WGS makes it possible to search for disorders when causative genes and variants are known.  NBS by WGS may reduce uncertainty and subsequently unnecessary repeat testing in a vulnerable population.

Learning Areas:

Clinical medicine applied in public health
Provision of health care to the public

Learning Objectives:
Discuss the issues of newborn screening in the NICU population. Compare newborn screening by traditional methods with whole genome sequencing.

Keyword(s): Genetics, Child Health

Presenting author's disclosure statement:

Qualified on the content I am responsible for because: I have over 35 years experience as a neonatal/perinatal RN. I have developed protocols on newborn screening. Currently a research investigator for perinatal genomic research
Any relevant financial relationships? No

I agree to comply with the American Public Health Association Conflict of Interest and Commercial Support Guidelines, and to disclose to the participants any off-label or experimental uses of a commercial product or service discussed in my presentation.

Back to: 3199.1: Current Issues in Public Health Genomics