Author ORCID Identifier

Date of Graduation


Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Rebecca D. Carter, MS, CGC

Committee Member

Ann Theresa Wittman, MS, CGC

Committee Member

Chelsea Wagner, MS, CGC

Committee Member

Kate Wilson, MS, CGC

Committee Member

Rebecca Lunstroth, MA, JD

Committee Member

Martina Ayad, MD


Background. The recent increases in availability of and demand for genetic testing have been observed alongside concerns regarding the appropriate ordering of such tests by providers, and subsequent unnecessary costs to the healthcare system. Professional organizations, such as ACOG and ACMG, develop guidelines to aid providers in ordering appropriate genetic testing. In this study, the ordering of carrier screening by obstetricians and genetic counselors was used to determine if duplicate genetic testing was taking place at a large academic institution along with adherence to ACOG and ACMG carrier screening guidelines.

Methods. A retrospective chart review of primigravida and multigravida women seen in January 2019 at a large academic institution in Houston, Texas was conducted. The study sample was obtained by reviewing ultrasound and genetic counseling schedules during the study period. A total of 503 charts were reviewed. Three patients were excluded from the duplicate screening analysis since they were nulliparous. Out of the remaining 500 patients, two did not have their ethnicities recorded in the medical record; therefore, they could not be included in the ethnicity demographics. Furthermore, one of these patients had carrier screening done with an obstetrician but she was excluded from the secondary analysis since her ethnicity could not be determined. Descriptive statistics were used to characterize data.

Results. The percentage of patients who underwent duplicate carrier screening in January 2019 was 16.2% (51/314). Out of these 51 duplicate carrier screening tests, 24 of them were determined to be inappropriate. The estimated cost of inappropriate duplicate carrier screening, derived from the CMS’ Clinical Diagnostic Laboratory Fee Schedule, was $6,382.12. Provider adherence to ACOG/ACMG recommended carrier screening guidelines was 31.4% (86/274).

Conclusions. This study found that duplicate carrier screening was ordered at a large academic institution by both genetic counselors and obstetricians, resulting in unnecessary cost burden to the healthcare system. This study also concluded that ACMG/ACOG carrier guidelines are not routinely followed by ordering providers at this academic institution.


carrier screening, duplicate genetic testing, cost impact, allocation of resources, guideline adherence, SMA carrier screening, CF carrier screening



To view the content in your browser, please download Adobe Reader or, alternately,
you may Download the file to your hard drive.

NOTE: The latest versions of Adobe Reader do not support viewing PDF files within Firefox on Mac OS and if you are using a modern (Intel) Mac, there is no official plugin for viewing PDF files within the browser window.