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Comparison of medical management and genetic counseling options pre- and post-whole exome sequencing for patients with positive and negative results

Matias, Margret
http://orcid.org/0000-0001-9742-1562
http://rave.ohiolink.edu/etdc/view?acc_num=ucin1490352906282189

Abstract Details

2017, MS, University of Cincinnati, Medicine: Genetic Counseling.
Purpose: Whole exome sequencing (WES) has been found to be a useful clinical diagnostic tool; however, the effect of WES results on patient management has not been extensively studied. The current study investigated changes to medical management and genetic counseling options following WES results as well as the differences in the changes between those with positive and negative results. Methods: Seventy-eight individuals who had WES at Cincinnati Children’s Hospital Medical Center were included in the study. They were separated into two groups: positive results and negative results. Their electronic medical records were retrospectively reviewed to collect data pertaining to medical management and genetic counseling options pre- and post-WES results. The absence (no) or presence (yes) of each outcome was recorded pre- and post-WES results and then analyzed using McNemar’s tests to determine if there was a significant pre- to post-WES difference; the positive and negative groups were compared using Fisher’s exact tests. Results: Of the 78 participants included in the study, 37 (47.4%) had positive results and 41 (52.6%) had negative results on WES. The majority (97%) of all participants received one or more changes to medical management and/or genetic counseling options following WES results. Using McNemar’s tests, there were statistically significant differences in all categories for those with positive results (genetic testing p<0.0001; imaging p=0.0127; metabolic testing p<0.0001; recurrence risk p<0.0001; reproductive options p<0.0001; testing for family members p<0.0001; support groups p<0.0001), and statistically significant differences in three categories for those with negative results (genetic testing p<0.0001; imaging p<0.0001; and metabolic testing p<0.0001). Using Fisher’s exact tests to compare the positive and negative groups to each other, participants with positive results showed different types of changes in specialist referrals (p=0.05), lifestyle recommendations (p=0.03), as well as recurrence risk, reproductive options, testing availability for family members, and support group availability (all p<0.0001). Conclusion: Both the positive and negative groups showed significant changes following WES results in genetic testing, imaging, and metabolic testing. Only the positive group showed significant changes in specialist referrals, lifestyle recommendations, recurrence risk, reproductive options, testing availability for family members, and support group availability.
Derek Neilson, M.D. (Committee Chair)
Kathleen Collins, M.S. (Committee Member)
Katherine Healy, M.S (Committee Member)
C Alexander Valencia, Ph.D. (Committee Member)
Xue Zhang, Ph.D. (Committee Member)
64 p.
Genetics
clinical impact; genetic counseling; genetic testing; medical management; whole exome sequencing

Recommended Citations

Citations

  • Matias, M. (2017). Comparison of medical management and genetic counseling options pre- and post-whole exome sequencing for patients with positive and negative results [Master's thesis, University of Cincinnati]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1490352906282189

    APA Style (7th edition)

  • Matias, Margret. Comparison of medical management and genetic counseling options pre- and post-whole exome sequencing for patients with positive and negative results. 2017. University of Cincinnati, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=ucin1490352906282189.

    MLA Style (8th edition)

  • Matias, Margret. "Comparison of medical management and genetic counseling options pre- and post-whole exome sequencing for patients with positive and negative results." Master's thesis, University of Cincinnati, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1490352906282189

    Chicago Manual of Style (17th edition)

ucin1490352906282189
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This open access ETD is published by University of Cincinnati and OhioLINK.