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An Exploration of Genetic Counselors’ Practice Patterns Towards Alzheimer’s Disease in Non-Neurology Clinics

Klee, Victoria H
http://orcid.org/0000-0003-3475-804X
http://rave.ohiolink.edu/etdc/view?acc_num=osu1586969389732165

Abstract Details

2020, Master of Science, Ohio State University, Genetic Counseling.
Background: Alzheimer’s Disease (AD) is a neurodegenerative disorder and constitutes the most common type of dementia. The genetics of AD includes autosomal dominant highly penetrant variants leading to early onset AD, risk alleles which contribute to risk for late onset AD, and other multifactorial inheritance risk factors. In 2011, the National Society of Genetic Counselors (NSGC) and the American College of Medical Genetics (ACMG) published Joint Practice Guidelines for Genetic Counseling and Testing for Alzheimer Disease which establish a framework for genetic counseling and testing for a personal or family history of AD. Given the prevalence of Alzheimer’s disease in the general population, genetic counselors are likely to encounter family histories of AD outside of neurology practice. Yet, there is little information known about how counselors in non-neurology settings, (e.g. cancer, prenatal, or pediatric sub-specialties) are actually addressing AD when it presents in their clinical practice. The aim of this study was to address this gap in the literature by ascertaining practice patterns related to AD among non-neurology genetic counselors. Methods: American Board of Genetic Counseling (ABGC)-board certified genetic counselors who provided genetic counseling services within the last year in non-neurology clinical practice were recruited to participant in an anonymous Qualtrics© survey. This survey consisted of 32 multiple-choice questions, which ascertained demographic information, AD practice patterns, and survey participants responses to five pedigrees depicting hypothetical AD family history scenarios. The five pedigree scenarios included a family history of early-onset AD (EOAD) with no known AD-associated pathogenic variant, familial late-onset AD (LOAD), sporadic AD, family history of a known APOE e4 allele homozygote, and a known PSEN1 gene pathogenic variant. Descriptive statistics was utilized for statistical analysis. Results: Seventy-three respondents met inclusion criteria and completed the study questionnaire. Thirty-four percent of participants (25/73) reported their primary clinical practice as cancer, 32% (23/73) practiced in the prenatal setting, and the remaining 34% (25/73) practiced in another specialty. Only 46% (34/73) of respondents had an ABGC-board certified genetic counselor, either internal to or outside of their respective institution, whom they could refer a client to for AD genetic counseling. Half of the survey respondents (50%, 37/73) endorsed recording a family history between 6 and 10 times per week and 85% (62/73) of respondents reported they identified a family history of AD approximately 1 to 5 times per week. Among the participants who endorsed uncovering a family history of AD, only 41% (27/66) reported they “often” ask the age of onset. Participants were asked selected the most common factors that they perceive as impacting a patient’s interest in their own family history of AD, factors influencing whether or not they address a family history of AD when it appears, and factors contributing to participants’ ability or wiliness to make a referral to a neurogenetic counselor for elevated risk for AD. When participants were asked how they addressed a clinically significant family history of AD, 42% (31/73) indicated they would offer a referral to a neurogenetic counselor while 25% (18/73) would provide the AD-specific genetic counseling. About 53% of participants reported some level of discomfort (“somewhat uncomfortable” or “very uncomfortable”) towards providing genetic counseling for AD. Counselors who endorsed being “very comfortable” with AD genetic counseling selected that they would providing genetic counseling and either refer for genetic testing or facilitate testing themselves. Across all five hypothetical pedigree scenarios, participants appropriately assessed the patients’ concern or interest in their risk. However, levels of discomfort in providing AD genetic counseling, lack of AD genetic counseling knowledge, and referral patterns were reflected across the EOAD, LOAD, and APOE pedigree scenarios. Conclusion: This study found that a majority of participants report some level of discomfort in providing AD genetic counseling. This discomfort is reflected in their practice patterns and how they address a clinically significant family history of AD. However, when presented with AD pedigree scenarios, the majority of participants endorsed appropriate courses of action. To address genetic counselors’ discomfort towards genetic counseling for AD, further educational efforts are needed to increase counselors’ knowledge and comfort levels in order to provide the most appropriate risk assessment and care to patients. Additionally, this study found that non-neurology genetic counselors have limited resources to make a referral for AD, indicating the need for more neurology genetic counselors.
Dawn Allain, MS, CGC (Advisor)
Rawan Tarawneh, MD (Committee Member)
Alexandra Ilacqua, MS, CGC (Committee Member)
103 p.
Genetics
Alzheimers Disease; genetic testing; genetic counseling; Alzheimers genetics; pedigree scenarios; practice patterns; APOE; PSEN1; PSEN2

Recommended Citations

Citations

  • Klee, V. H. (2020). An Exploration of Genetic Counselors’ Practice Patterns Towards Alzheimer’s Disease in Non-Neurology Clinics [Master's thesis, Ohio State University]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=osu1586969389732165

    APA Style (7th edition)

  • Klee, Victoria . An Exploration of Genetic Counselors’ Practice Patterns Towards Alzheimer’s Disease in Non-Neurology Clinics . 2020. Ohio State University, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=osu1586969389732165.

    MLA Style (8th edition)

  • Klee, Victoria . "An Exploration of Genetic Counselors’ Practice Patterns Towards Alzheimer’s Disease in Non-Neurology Clinics ." Master's thesis, Ohio State University, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=osu1586969389732165

    Chicago Manual of Style (17th edition)

osu1586969389732165
281
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This open access ETD is published by The Ohio State University and OhioLINK.