Genetic counseling for advanced paternal age: A survey of genetic counselors' current practice

Abstract

Advanced paternal age (APA) has no formal definition, though many publications utilize the cutoff of fathers >40 years of age. The literature demonstrates an association between APA and certain conditions including de novo autosomal dominant disorders, birth defects, and neuropsychiatric conditions. This study surveyed 165 genetic counselors within the National Society of Genetic Counselors to assess their current approach to APA. t Tests, analysis of variance, logistic regression, and chi‐squared tests were performed on quantitative data, and content analysis was applied to qualitative data. Although most respondents have discussed APA with a patient (88%), there was no consensus on what age cutoff constitutes APA: >40 (N = 53, 37.9%), >45 (N = 61, 43.6%), >50 (N = 24, 17.1%), or >55 (N = 2, 1.4%). Those who discussed APA were more likely to be prenatal counselors, see more patients per week, be board certified, or be familiar with current APA guidelines. Respondents agreed the literature supports the association of APA with deleterious outcomes (mean agreement = 8.2, median = 8 on a 1 = strongly disagree to 10 = strongly agree). Individuals who discussed APA and were board certified had higher agreement. Content analysis confirmed agreement that the literature supports an association between APA and deleterious outcomes (documented in responses from 31.5% of prenatal respondents, 17.8% others) but noted that available testing and screening options for associated conditions are limited (34.4% of prenatal respondents, 17.4% others). Prenatal and non‐prenatal respondents reported similar agreement with the statement that APA is associated with deleterious outcomes. However, most non‐prenatal respondents were unfamiliar with current guidelines (80%), and presumably as a result, were also less likely to discuss APA with their patients. Our study identified a need to disseminate information regarding APA and current guidelines to genetic counselors, particularly non‐prenatal and those with less experience.

Disability education and implications for genetic counselor training

“…Allowing the opportunity for GCs to present disability in a more accurate and balanced manner that meets the needs and preferences of the disability community. This study, alongside previous research, emphasizes the necessity of going beyond a singular experience/exposure to persons with disabilities to genuinely comprehend their lived experience to provide meaningful and unbiased genetic counseling (Brown et al, 2009;Kline et al, 2012;Teicher et al, 1998). Disability education for healthcare providers should encompass all previously described methods to appreciate the lived experience of persons with disabilities (Havercamp et al, 2021;Symons et al, 2009).…”

“…Survey content for the GC community was established by incorporating prior research on this topic and included training methods for disability education utilized by GC training programs, perceived value of these methods, and emphasis placed on disability education by programs (Brown et al., 2009; Kline et al., 2012; Sanborn & Patterson, 2014; Teicher et al., 1998). Other topics addressed in the design of the survey included satisfaction of disability education training and comfort level discussing disability topics (Brown et al., 2009; Kline et al., 2012). The GC community survey was piloted by five certified genetic counselors prior to distribution.…”

Genética em Medicina e Enfermagem: percepções de profissionais de saúde envolvidos com o processo ensino-aprendizagem

“…Nossos resultados mostraram que os participantes foram, em geral, capazes de identificar as principais características clínicas que levam à suspeição de doenças genéticas. A despeito disso, algumas situações foram subestimadas, como a importância do aconselhamento genético nos casos de consanguinidade e a idade materna ou paterna avançada [47][48][49] . Os resultados também apontaram para necessidade de fortalecer os processos de educação em saúde junto às gestantes.…”

Considerations for the use of qualitative methodologies in genetic counseling research

“…A common use of content analysis is for the evaluation of open‐ended questions in an otherwise quantitative survey (Elo et al, 2014; Given, 2017; Hsieh & Shannon, 2005). In their survey of genetic counselors' regarding practice experiences with advanced paternal age for example, (Quirin et al, 2021) used content analysis to evaluate open‐ended responses regarding why this topic was discussed. In this context, content analysis is used to evaluate patterns within data but unlike thematic analysis, does so by considering the frequencies with which a topic or idea is discussed.…”