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Development of a Genetic Testing Report Supplement for Patients with Hypertrophic Cardiomyopathy Who Receive Uninformative Results.

Nightingale, Brooke Moriarty
http://rave.ohiolink.edu/etdc/view?acc_num=osu1523463438552511

Abstract Details

2018, Master of Science, Ohio State University, Genetic Counseling.
Introduction: Empiric observation suggests that patients with cardiovascular genetic conditions often misinterpret uninformative genetic testing results (nonpathogenic variants or no variants identified) to mean that a genetic etiology has been ruled out and family members are not at increased risk. This observation is true even in the setting of results disclosure by genetic counselors (supplemented by sharing the laboratory report and a detailed letter), and in well-established cardiogenetic conditions such as hypertrophic cardiomyopathy (HCM). A clinical diagnosis of HCM, defined as unexplained left ventricular hypertrophy (LVH), which is mostly inherited in an autosomal dominant pattern of inheritance, implies a genetic etiology. Although not all relevant genes have been discovered, limiting detection rate to 40-60%, all individuals with HCM are eligible for genetic testing. If results are uninformative in an affected individual, first-degree relatives remain at up to 50% risk and are recommended to have periodic cardiac screening to prevent HCM complications. Uptake for this recommendation, however, has not been optimal and may be related to comprehension of uninformative results. Comprehension of the genetic testing report is an area that has not been extensively studied in cardiogenetics. The aims of this study are thus to: ascertain how well probands with HCM understood and communicated with family members about uninformative results (a substantial category, accounting for 40-60% of HCM genetic testing results), how the report played a role in this comprehension and discussion, and elicit suggestions for an improved laboratory report supplement that could enhance or replace the traditional patient letter. Methods: Participants with uninformative genetic testing results who previously had genetic counseling at The Ohio State University Cardiovascular Genetic and Genomic Medicine Program were invited to participate in an interview. Interviews focused on the participants’ understanding of their genetic testing results and the clinical laboratory report, their understanding of familial risks and family discussions, and participant suggestions for improved result reports. The interviews were transcribed in their entirety, coded, and analyzed based on thematic analysis. Results: Fifteen participants agreed to participate. All participants reported reading at least some of their report. Eight received a patient supplement created by the laboratory. The majority (n=11) reported that they did not understand any of the report, or that they only understood the terminology written on the report because their results had been explained to them by the genetic counselor. Of those who thought the report was helpful for their understanding of their results (n=6), half of these individuals were found to misunderstand the meaning of their results. Eight were able to convey understanding of their result and twelve were able to share this risk with family members, however, none said that the report helped them share this information with family members. Twelve participants shared not reading or recalling the counseling letter. Participants suggested improving the reports by adding a personalized summary page that can be read before reading the full report. This summary would list specifically at-risk family members and clinical screening recommendations. Other recommendations included a providing basic genetics overview, graphics, resources and a glossary of terms. Conclusion: This study demonstrates that HCM patients with uninformative genetic testing results may misunderstand the clinical implications of their result. Participants’ needs did not appear to be fulfilled by either laboratory supplement or a detailed counseling letter. Instead, they expressed need for a brief report supplement with personalized clinical recommendations. Future research is indicated to validate our findings in other patient populations and to explore the clinical utility of an enhanced tool that leverages components of both laboratory supplement and patient letter.
Ana Morales, MS, LGC (Advisor)
Shelly Hovick, PhD (Committee Member)
Pamela Brock, MS, LGC (Committee Member)
112 p.
Genetics
Cardiogenetics; uninformative genetic testing results; hypertrophic cardiomyopathy; genetic counseling

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Citations

  • Nightingale, B. M. (2018). Development of a Genetic Testing Report Supplement for Patients with Hypertrophic Cardiomyopathy Who Receive Uninformative Results. [Master's thesis, Ohio State University]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=osu1523463438552511

    APA Style (7th edition)

  • Nightingale, Brooke. Development of a Genetic Testing Report Supplement for Patients with Hypertrophic Cardiomyopathy Who Receive Uninformative Results. 2018. Ohio State University, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=osu1523463438552511.

    MLA Style (8th edition)

  • Nightingale, Brooke. "Development of a Genetic Testing Report Supplement for Patients with Hypertrophic Cardiomyopathy Who Receive Uninformative Results." Master's thesis, Ohio State University, 2018. http://rave.ohiolink.edu/etdc/view?acc_num=osu1523463438552511

    Chicago Manual of Style (17th edition)

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This open access ETD is published by The Ohio State University and OhioLINK.