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Outcomes and Attitudes Regarding Genetics Recontact of Patients with Unexplained Defective Mismatch Repair

Nestler, Carson M
http://rave.ohiolink.edu/etdc/view?acc_num=osu1618830092647583

Abstract Details

2021, Master of Science, Ohio State University, Genetic Counseling.
Introduction: Lynch syndrome is an autosomal dominant genetic condition that conveys significantly increased risk for colorectal and endometrial cancers. It is caused by germline mutations in one of the mismatch repair (MMR) genes. Tumor screening for Lynch syndrome (LS) by immunohistochemistry or microsatellite instability is recommended in individuals with colorectal and endometrial cancer. A minority of patients will have an abnormal LS tumor screen but have negative germline testing for a MMR gene. Previously, these individuals were told that they likely had LS due to an undetected germline mutation in an MMR gene, and were advised to follow LS cancer surveillance guidelines. However, more recent data has shown that up to 50% of these cases can be attributed to double somatic (DS) mutations in the MMR genes. Given this knowledge, individuals who are following LS guidelines due to unexplained defective MMR (dMMR) cancer history should be offered additional tumor testing for DS MMR gene mutations. Methods: 33 individuals from The Ohio State University Division of Human Genetics (OSU DHG) and OhioHealth Genetic Counseling Program (OHGCP) were informed of this additional testing via letter in the mail or through MyChart. Twenty-eight were identified as eligible for the study and were contacted by telephone. A semi-structured interview was conducted prior to the patient undergoing additional genetic testing. Questions were asked to assess the participants’ and their families’ cancer risk perception and adherence to LS surveillance guidelines, as well as the participants’ feelings toward being re-contacted by the OSU DHG in regard to the new testing. Results: Thirteen individuals underwent a semi-structured interview. Six believed they had LS, but only five were adherent to LS surveillance guidelines. All participant informed at least one relative about their previous genetic test results, but twelve said their relaties were not following LS screening guidelines. Ten individuals expressed positive reactions to receiving the letter, while three were indifferent. Ten individuals were interested in the additional testing. Seven scheduled an appointment with a genetic counselor, though only six pursued the updated genetic testing. Additionally, five participants were asked about their feelings regarding the timing of their initial genetic counseling appointment with respect to their cancer diagnosis. Three of these five expressed positive feelings regarding the timeline. Four participants had difficulty separating when the genetic counseling appointment had occurred with respect to their cancer diagnosis. Conclusion: This study provides an outline for genetics clinic re-contact of patients with unexplained dMMR in light of additional genetic testing that could resolve their previously inconclusive germline test results and provides novel insights into patient risk perception, adherence to LS surveillance recommendations, and patient feelings towards being re-contacted.
Julia Cooper, MS, CGC (Advisor)
Leigha Senter-Jamieson, MS, CGC (Committee Member)
Rachel Alexander, MS, CGC (Committee Member)
90 p.
Genetics
recontact; genetic counseling; lynch syndrome; unexplained mismatch repair deficiency

Recommended Citations

Citations

  • Nestler, C. M. (2021). Outcomes and Attitudes Regarding Genetics Recontact of Patients with Unexplained Defective Mismatch Repair [Master's thesis, Ohio State University]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=osu1618830092647583

    APA Style (7th edition)

  • Nestler, Carson. Outcomes and Attitudes Regarding Genetics Recontact of Patients with Unexplained Defective Mismatch Repair. 2021. Ohio State University, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=osu1618830092647583.

    MLA Style (8th edition)

  • Nestler, Carson. "Outcomes and Attitudes Regarding Genetics Recontact of Patients with Unexplained Defective Mismatch Repair." Master's thesis, Ohio State University, 2021. http://rave.ohiolink.edu/etdc/view?acc_num=osu1618830092647583

    Chicago Manual of Style (17th edition)

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