Genomic Data in a Two-Phase Intervention Trial: The DIG Team Experience

Monday, 30 July 2012

Anne L. Ersig, PhD, RN1
Kirsten Hanrahan, DNP, ARNP2
Jennifer Standley, BS3
Charmaine Kleiber, RN, PhD, FAAN1
Ann Marie McCarthy, RN, PhD, FAAN1
Jeffrey Murray, MD3
(1)College of Nursing, University of Iowa, Iowa City, IA
(2)Nursing Research and Evidence-Based Practice, University of Iowa, Iowa City, IA
(3)Carver College of Medicine, University of Iowa, Iowa City, IA

Learning Objective 1: Describe methods for integrating genomics-focused research objectives into nursing research

Learning Objective 2: Describe the association of genetic variation with the outcomes of child pain and anxiety


Large-scale intervention trials provide unique opportunities to examine the contribution of genetic variability to phenotypes of interest. Despite significant gains in knowledge of the human genome, little is known about the association of genetic variants (single nucleotide polymorphisms; SNPs) with outcomes of interest in children. The study team incorporated genetics-focused aims into a two-phase study focused on children’s responses to a medical procedure (intravenous catheter [IV] insertion). The resulting dataset includes SNP genotypes and measures of child pain and anxiety. This analysis examines the association of genetic variants with measures of child pain and anxiety.


Data were obtained from a two-phase study involving ~1100 children 4-10 years old, who had IV placement for diagnostic procedures at three Midwestern children’s hospitals. Outcome variables included child and parent ratings of procedural pain and anxiety, and biological and observational measures of child distress. Child and parent DNA was extracted from whole blood, buccal swabs, or saliva. SNPs were selected based on prior association with outcome variables of interest. Analyses examined association of SNP genotype with phenotype (pain, anxiety).


Genes of interest include GABRA2, CRHR1, and EDNRA, among others. Analysis of preliminary data highlighted several SNPs of primary interest. Descriptive data on child pain and anxiety will be presented, as will associations of selected genotypes with phenotype. Important considerations for research using genetic data will be reviewed.


As our knowledge of the human genome expands, nurse researchers must consider the contribution of genomic variation to outcomes and phenotypes of interest. Large-scale intervention studies provide unique opportunities to incorporate genomic research. Lessons from the study reported here will be valuable to nurse researchers considering genomic research.