Open Journal of Nursing, 2014, 4, 67-73 OJN http://dx.doi.org/10.4236/ojn.2014.42010 Published Online February 2014 (http://www.scirp.org/journal/ojn/ ) Feasibility study for genetic testing and SNP analysis in infants Madalynn Neu 1 , Marisa Ehringer 2 , Cassandra Marcheggiani-Howard 1 1 College of Nursing, University of Colorado, Aurora Colorado, USA 2 Institute of Behavioral Genetics, University of Colorado, Boulder Colorado, USA Email: madalynn.neu@ucdenver.edu , Marissa.Ehringer@colorado.edu , cassmarche@yahoo.com Received 30 November 2013; revised 31 December 2013; accepted 21 January 2014 Copyright © 2014 Madalynn Neu et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. In accor- dance of the Creative Commons Attribution License all Copyrights © 2014 are reserved for SCIRP and the owner of the intellectual property Madalynn Neu et al. All Copyright © 2014 are guarded by law and by SCIRP as a guardian. ABSTRACT Purpose: Determine whether parents would consent to genotyping for temperament characteristics for their infants; establish that quality DNA is obtained from infants using a cheek swab. Design and Methods: Seventeen mother-father dyads and infants, 11 to 35 weeks of age, who had participated in a GERD (ga- stroesophageal reflux disease) massage study partici- pated in this feasibility study. Results: Seventy-one percent of parents agreed to genotyping. Most par- ents who participated were concurrently enrolled in the GERD massage study. Reasons provided for par- ticipating were support of research and the desire to help other families who had infants with GERD. Parents who participated also had higher educational attainment than those who declined. Reasons for de- clining were dislike of genetic research. All samples could be analyzed. Practice Implications. Many par- ents allowed genotyping, especially if currently en- gaged with research staff. Cheek swabs are a nonin- vasive and satisfactory method of DNA collection. KEYWORDS DNA; Infants; Temperament; Parent Consent 1. INTRODUCTION Gastroesophageal reflux (GER), is the involuntary re- gurgitation of gastric contents into the esophagus and is common in infants. However, about one in four infants experience the more complicated form of GER, gastroe- sophageal reflux disease, called GERD [1]. GERD is characterized by frequent regurgitation, heightened irri- tability, and feeding difficulties, sometimes accompanied by back arching, cyanosis, and apnea [2]. The symptom of irritability can result from a number of causes. Dis- comfort from acid reflux certainly is likely, but infant crying and fussing have been shown to occur with bouts of both acid and nonacid reflux [3]. Thus, some infants may not experience pain with reflux but may perceive the sensation of reflux as discomforting. Anti-reflux me- dications relieve acid reflux but are not more effective than placebo in reducing crying in infants with GERD [4-6], suggesting that infant temperament characteristics, such as negativity (i.e. fussiness and crying) and toler- ance of discomfort, might play a role in irritability in infants with GERD. Several genes are reported to be associated with these temperament characteristics in in- fants: dopamine D4 receptor (gene symbol: DRD4), do- pamine transporter (gene symbol: DAT), Catechol-O- Methyltransferase (gene symbol: COMT), and the sero- tonin transporter (5-HTT, 5-hydroxytryptomine, gene symbol: SLC6A4) [7-11]. Before embarking on a large-scale genetic study in- vestigating temperament genes in infants with GERD, our research team conducted a feasibility study. Feasibil- ity studies often are necessary to determine whether a study can be conducted. Parameters of a feasibility study include willingness of participants to consent to the study, number of eligible participants that can be enrolled, de- signing a suitable outcome measure, and usability of data [12]. We designed the feasibility study to validate design and protocol for obtaining parental consent, and collect- ing and genotyping DNA from infants using buccal swabs. 2. GENETIC TESTING 2.1. Potential Barriers to Parental Consent for Genetic Testing for Their Infants Parents face complex ramifications when deciding to OPEN ACCESS