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Making a Genetic Diagnosis in a Level IV Neonatal Intensive Care Unit Population: Who, When, How, and at What Cost?

Swaggart, Kayleigh A, Ph.D.

Abstract Details

2018, MS, University of Cincinnati, Medicine: Genetic Counseling.
Purpose: To characterize the genetic testing ordered, diagnoses made, and charges acquired for patients admitted to a level IV Neonatal Intensive Care Unit (NICU) in 2013 and 2014. Methods: Retrospective chart review of all patients admitted to a single level IV NICU in 2013 and 2014. Demographic, genetic testing, genetic diagnosis, and charge data were collected from the electronic medical record (EMR). Results: A total of 1327 unique patients were admitted to our level IV NICU during the study period. During the NICU stay and up to two years of age, 478 genetic tests were ordered for 276 (20.8%) patients. Of these, 73.4% (351) were ordered during the initial NICU admission. Most patients had only one test ordered, though this ranged from one to seven tests. The most commonly ordered test in the NICU was a microarray (103, 29.3%), which was the confirmatory test for 12.6% of those patients with a diagnoses. The least commonly ordered test was whole exome sequencing (4, 1.1%). A genetic diagnosis was made in 36.3% of patients who had genetic testing. In total, 128 patients (9.6%) received a genetic diagnosis by two years through genetic testing or other means. These patients were significantly more likely to be either term or late preterm (p = 0.0025), and to have normal birth weights (p = 0.0111). Inpatient clinical genetics evaluation improved the rate of diagnosis as opposed to performing genetic testing without a clinical genetics evaluation (26.5% vs. 44.5% in patients with a consult). However, a majority of the diagnoses (57.6%) were made after discharge. Of the 265 (20.0% of cohort) patients who received a genetics consult, 83 (31.3%) received a diagnosis. Patients receiving a diagnosis had significantly longer and more costly hospital stays. They had higher genetics charges, as expected. These patients were also more labor intensive than patients without a genetic diagnosis. In total $851,982 in charges for genetics services were accrued during the two year study window, equaling $642.04 per patient when averaged across the study cohort. Conclusions: Our study characterized the genetic evaluation, testing, and diagnoses of a level IV NICU cohort over a two year time period. Nearly 10% of our cohort received a genetic diagnosis by two years of age. These patients had longer NICU stays, more costly stays, and required more work to care for them than their counterparts without a genetic diagnosis. Inpatient genetic consultations increased the rate of diagnosis in patients and despite overall more costly stays, genetics charges -- for hospital and physician charges and testing – were very low relative to the overall cost of their NICU stay across the cohort.
Melanie Myers, Ph.D. (Committee Chair)
D. Brian Dawson, Ph.D. (Committee Member)
Hua He, M.S. (Committee Member)
Kristen Suhrie (Committee Member)
Daniel Swarr (Committee Member)
Leandra Tolusso, M.S. (Committee Member)
31 p.

Recommended Citations

Citations

  • Swaggart, K. A. (2018). Making a Genetic Diagnosis in a Level IV Neonatal Intensive Care Unit Population: Who, When, How, and at What Cost? [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1522418908746073

    APA Style (7th edition)

  • Swaggart, Kayleigh. Making a Genetic Diagnosis in a Level IV Neonatal Intensive Care Unit Population: Who, When, How, and at What Cost? 2018. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1522418908746073.

    MLA Style (8th edition)

  • Swaggart, Kayleigh. "Making a Genetic Diagnosis in a Level IV Neonatal Intensive Care Unit Population: Who, When, How, and at What Cost?" Master's thesis, University of Cincinnati, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1522418908746073

    Chicago Manual of Style (17th edition)