Journal of Genetic Counseling最新文献

{"title":"Preimplantation genetic testing for polygenic disorders: Viewpoints of reproductive genetic counselors and reproductive endocrinology and infertility specialists in the United States","authors":"Saanchi Shah,&nbsp;Rita M. Cantor,&nbsp;Molly Quinn,&nbsp;Jessica Shamshoni,&nbsp;Christina G. S. Palmer","doi":"10.1002/jgc4.70072","DOIUrl":"https://doi.org/10.1002/jgc4.70072","url":null,"abstract":"<p>The purpose of this study was to assess awareness of preimplantation genetic testing (PGT) for polygenic disorders (PGT-P) and viewpoints surrounding PGT among reproductive genetic counselors (GCs) and reproductive endocrinology infertility physicians (REIs) in the United States. GCs and REIs were recruited via professional groups to complete an anonymous online survey that assessed awareness of PGT-P, motivating factors that are considered in recommending PGT-P and views on clinical use of PGT. In our sample of 82 GCs and 54 REIs, 80% reported having heard of PGT-P, 52% answered yes or maybe to whether patients should have the option of PGT-P for polygenic conditions, and only 18% answered yes or maybe to whether they would recommend it to their patients. REI participants (28%) were more likely to endorse recommending PGT-P in the context of in vitro fertilization + PGT for other indications compared to GC participants (12%) (<i>p</i> = 0.02). Advanced egg age and prior pregnancy history were the motivating factors that significantly differed between REI and GC participants in recommending PGT-P. In contrast to PGT-P, most participants (&gt;96%) support patients having the option of PGT for aneuploidy, monogenic disorders of childhood and adult-onset conditions, and structural rearrangements. These findings warrant further research to better understand if GCs and REIs would recommend PGT-P in the future when more refined genetic risk estimates are developed.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70072","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144367296","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluating first-line genetic testing strategies for inpatients with congenital heart defects","authors":"Al Lindstrom,&nbsp;Amy Breman,&nbsp;Sara Fitzgerald-Butt,&nbsp;Lindsey R. Helvaty,&nbsp;Stephanie M. Ware,&nbsp;Benjamin M. Helm","doi":"10.1002/jgc4.70073","DOIUrl":"https://doi.org/10.1002/jgc4.70073","url":null,"abstract":"<p>Genetic testing strategies used to determine the etiology of congenital heart disease/defects (CHD/CHDs) vary between and within institutions, leading to potentially missed diagnostic opportunities. There has been little investigation comparing the diagnostic utility of gene panels among more comprehensive strategies used in the genetic evaluation of patients with CHD. In this descriptive study, we investigated the diagnostic yields of different genetic testing strategies in a real-world cohort of 263 patients with CHDs with genetic diagnoses. We counterfactually determined the diagnostic yield of a virtual gene panel designed for this study. We compared the diagnostic yield of the gene panel to other testing strategies, including chromosomal microarray (CMA), CMA + the gene panel, and genome sequencing. We assessed diagnostic yield differences according to clinical presentations to determine if phenotypes can inform optimal testing strategies. The virtual gene panel would have identified 51.3% of genetic disorders in this cohort, and 25.9% of genetic disorders would have remained undetected; another 22.8% may have needed additional testing to fully characterize the diagnoses. A combined approach of the virtual gene panel and CMA increased the diagnostic yield compared with panel-only testing or CMA alone (87.8% vs. 51.3% and 63.1%, respectively). The gene panel plus CMA would have increased the diagnostic yield by 24%–35% compared with CMA or panel testing alone in patients with extracardiac anomalies, 19%–41% in syndromic patients, and 0%–70% across CHD classifications. This combined approach also eliminated the potential need for follow-up testing; however, genome sequencing had a higher diagnostic yield across all clinical presentations (99.6%). CHD gene panels and CMA used individually or in combination are suboptimal first-line testing strategies, missing up to 36.5% of genetic disorders in our sample. Given the wide spectrum of phenotypes and genetic etiologies, our results support consideration of standardized genome sequencing for patients with CHDs.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70073","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144367295","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic testing for Parkinson's disease in an underrepresented population: Knowledge, attitudes, and ethical considerations from a Malaysian perspective","authors":"Joanna P. Gerard,&nbsp;Ai Huey Tan,&nbsp;Shen-Yang Lim,&nbsp;Azlina Ahmad-Annuar,&nbsp;Jie Ping Schee,&nbsp;Nishakanthi Gopalan","doi":"10.1002/jgc4.70069","DOIUrl":"https://doi.org/10.1002/jgc4.70069","url":null,"abstract":"<p>Parkinson's disease (PD), an increasingly prevalent neurodegenerative disease worldwide, has been the focus of extensive genetics research in recent years. Genetic testing has emerged as a promising tool for early diagnosis, prognostication, and stratification of patients for potential disease-modifying therapies. However, implementing genetic testing in clinical practice presents unique considerations that warrant exploration. This is especially important in low- and middle-income countries (LMICs) like Malaysia, where the availability of testing is increasing but low genetic literacy and practical challenges complicate matters. This qualitative study explored the knowledge, attitudes, and perceptions of PD patients and caregivers regarding genetic testing, alongside issues faced by Malaysian healthcare professionals when considering genetic testing for patients. In-depth interviews were conducted with 20 patients, 20 caregivers, and 16 healthcare professionals, and data were analyzed using reflexive thematic analysis. Analysis revealed limited PD genetic literacy among patients and caregivers concerning the genetic role in PD, highlighting knowledge gaps regarding PD-specific genes and testing availability. Misconceptions surrounding PD causation and perceived limited utility of testing were prevalent. Expectations encompassed the role of testing in diagnosis, management, and prevention, while concerns centered around genetic information confidentiality, family implications, and affordability. Despite this, there was a considerable interest in genetic testing and counseling. Healthcare professionals highlighted concerns including proper disclosure of findings, the importance of genetic counseling, its broader implications for patients and their families, the risk of genetic discrimination, and practical barriers to testing. This study highlights the critical need for tailored genetic education for patients and families, providing a foundation for the development of locally relevant materials to improve PD genetic literacy and support decision-making. As genetic testing becomes integrated into clinical practice, expanding training programs for healthcare professionals, implementing genetic protection policies, and increasing accessibility is crucial to ensure equitable access to testing and counseling in Malaysia and other underrepresented regions.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70069","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144323354","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A preliminary adaptation and validation of the genetic counseling outcome scale (GCOS-24) for use in Greece","authors":"Marina Makri,&nbsp;Anthoula Palasidou,&nbsp;Despoina Moraitou,&nbsp;Thomas Tegos,&nbsp;Liana Fidani,&nbsp;Magdalini Tsolaki","doi":"10.1002/jgc4.70068","DOIUrl":"https://doi.org/10.1002/jgc4.70068","url":null,"abstract":"<p>The demand for genetic testing and counseling services continues to grow as there is a utility to guide diagnosis and treatment for a range of genetic conditions. Genetic counseling (GC) is a medical practice that provides information and counseling to patients and relatives at risk of recurrence of a genetic disease and helps them understand and adapt to the medical, psychological, and familial implications of the genetic information of the disease. Health professionals working in this field need reliable measurement tools to evaluate the results of their interventions, intending to ensure quality service improvements and planning successful disease management strategies. The Genetic Counseling Outcome Scale (GCOS-24) is a brief self-reported questionnaire of 24 questions administered to assess GC interventions and the outcomes of the use of these services in patients and caregivers of individuals with genetic diseases. It has been translated and validated in many languages, but not in the Greek language, despite the increased need for GC services in Greece. Thus, the questionnaire was translated into Modern Greek, and the reverse translation method was followed. 257 people participated in the research (63.6% women, 67.8% between 20 and 40 years, 45.9% University education of a high educational level). The construct validity of the questionnaire was examined through exploratory factor analysis and internal consistency through Cronbach's alpha. A significant difference in GCOS from the original scale is the fewer items—19 as opposed to 24. Greek GCOS is constructed of a two-factor structure and is a reliable tool (<i>α</i> = 0.79) for assessing patient empowerment in GC. With empowerment serving as an end measure, as it is focused on patient-centered care, this study adds to the international validation process of the GCOS-24 with the eventual objective of utilizing this instrument as a PROM to assess and enhance the services of GC in diverse clinical genetics settings.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70068","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144323353","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification and triage of patients with incidental germline pathogenic variants on somatic tumor profiling with a genomics module","authors":"Jenna Harris,&nbsp;Nicole Horton,&nbsp;Karen Huelsman","doi":"10.1002/jgc4.70071","DOIUrl":"https://doi.org/10.1002/jgc4.70071","url":null,"abstract":"<p>When cancer patients undergo tumor profile testing with paired tumor tissue and germline samples, incidental germline pathogenic variants are identified in up to 1 of 8 cases. Genetic counselors (GCs) play an important role in identifying these patients for genetic counseling referral and confirmatory germline testing. Tumor profile tests are typically ordered by medical oncologists, so a collaborative partnership with GCs supports appropriate follow-up. Manual methods to identify these patients can be time-consuming and tedious. In 2020, our team implemented a genomics module in the electronic health record system (EHR) and completed integration with the tumor testing laboratory. We used discrete variants in our EHR to create a reporting workbench tool to identify patients with incidental germline pathogenic variants. A protocol for triaging flagged patients to traditional vs. embedded care confirmatory germline testing was developed for appropriate referral. Patients were considered eligible for GC referral and confirmatory germline testing after excluding those who were deceased, previously tested, or declined confirmatory germline testing with documentation in the EHR. From 2020 to 2024, the GC referral rate increased from 27% to 100% and the confirmatory germline testing rate increased from 27% to 66%. Of all incidental germline pathogenic variants that underwent confirmatory germline testing, 100% were confirmed. Confirmatory germline testing did reveal secondary pathogenic variants not reported initially on tumor profile tests. We found additional pathogenic variants in 8.6% (2/23) and 9.7% (3/31) of patients tested in 2023 and 2024, respectively. Between 2019 and 2024, 192 total incidental germline patients were identified. The proportion of patients who underwent tumor profile testing with incidental germline findings was 7.3% overall, which is concordant with previously reported study rates. Discrete identification of potential germline variants via EHR integration supported the efficient triaging of patients eligible for GC referral and confirmatory germline testing, contributing to a 100% referral rate in 2024. Integration of the testing laboratory creates opportunity for further EHR application, such as Best Practice Alerts and Health Maintenance Care Gaps. Building laboratory integration for discrete genomic variants increases reporting capabilities, patient tracking, cascade testing, and could be applied to many broader medical contexts.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144323669","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Enhancing rigor and justice in genetic counseling research with reflexivity and positionality","authors":"Kimberly Zayhowski,&nbsp;Kennedy Borle,&nbsp;Nadine Channaoui","doi":"10.1002/jgc4.70066","DOIUrl":"https://doi.org/10.1002/jgc4.70066","url":null,"abstract":"<p>In the rapidly evolving landscape of genetic counseling research, acknowledging the dynamic interplay between the researchers and the research is critical. Positionality, which encompasses how researchers' social, cultural, and professional identities intersect with their work, along with reflexive practices that promote self-awareness, emerge as essential tools in promoting transparency, rigor, and ethical integrity in research. In this article, we explore the importance of both positionality and reflexivity in genetic counseling research. By highlighting the impact of researchers' perspectives on study design, data interpretation, and knowledge translation, we seek to underscore how positionality and reflexivity can be used to confront biases and power imbalances in the research process. Our discussion extends to both qualitative and quantitative methodologies, showcasing the role of reflexive and positionality statements in enhancing research credibility, inclusivity, and justice. We have provided actionable guidance and reflective questions for constructing robust positionality statements and documenting reflexivity across research phases. Reflexive research practices may advance justice-oriented evidence that informs clinical practices, research, and the genetic counseling profession more broadly. At the same time, we must balance the need to disclose privilege and biases with the imperative to protect marginalized individuals from potential exploitation and harm, ensuring these disclosures do not reinforce existing power imbalances nor compromise safety and autonomy. By advancing reflexivity and positionality, this article advocates for a justice-centered approach to genetic counseling research, ensuring a more representative and ethically responsible body of knowledge.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70066","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144299736","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Survey of the peer supervision needs of genetic counselors in Japan","authors":"Haruka Murakami,&nbsp;Motoko Sasaki,&nbsp;Maho Kuroda,&nbsp;Hidehiko Miyake","doi":"10.1002/jgc4.70064","DOIUrl":"https://doi.org/10.1002/jgc4.70064","url":null,"abstract":"<p>In the field of genetic counseling, supervision is crucial not only for students learning it but also for maintaining and enhancing the professional competency of practicing genetic counselors. Additionally, supervision plays an important role in assessing and managing the attitudes and mental health of counselors to ensure the best client care and self-care of the genetic counselors. However, Japan has no established system of official peer supervision for genetic counselor after beginning professional practice, which is left to individual workplaces. Moreover, the state and the need for peer supervision have not yet been investigated. Therefore, this study aimed to investigate the current state and need for peer supervision among certified genetic counselors in Japan using a questionnaire survey. Notably, only approximately, one-third of the 128 respondents received peer supervision after training completion, and almost all respondents recognized the need for peer supervision. The most common reason for not receiving peer supervision was the lack of opportunities or knowledge on how to receive supervision, highlighting the reality that many professionals are currently unable to receive peer supervision despite needing it. Regarding the desired peer supervision, respondents frequently indicated that the supervisor should be a genetic counselor, the format should be “individual” and “face-to-face,” frequency should be “once a month” or “as needed,” duration should be “30 min to &lt;1 h,” it should occur “during work hours,” and the cost should be “free” or “under 5000 yen.” Overall, this study highlights the need to establish an official peer supervision system, including the provision of educational programs for the training and promotion of peer supervision.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70064","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144256353","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development of the Affiliate Stigma Scale for parents of children with genetic conditions","authors":"Motoko Watanabe,&nbsp;Chieko Kibe,&nbsp;Masumi Sugawara,&nbsp;Hidehiko Miyake","doi":"10.1002/jgc4.70059","DOIUrl":"https://doi.org/10.1002/jgc4.70059","url":null,"abstract":"<p>Affiliate stigma is an internalized form of courtesy stigma that arises from close connections with individuals who have stigmatized traits. Assessing affiliate stigma in clinical settings is crucial, as it affects the psychological well-being of those affected. However, no measurement scale is currently available to assess affiliate stigma related to genetic conditions. This study aimed to develop a Japanese version of the Affiliate Stigma Scale utilizing data obtained from parents of children with genetic conditions. We adapted the English version of the Affiliate Stigma Scale originally developed for caregivers of individuals with mental illness and intellectual disabilities to the parents of children with genetic conditions through a back-translation protocol. The reliability and validity of the scale were confirmed using a quantitative analysis with 518 Japanese parents of children with Down syndrome. A factor analysis suggested a one-factor solution with high internal reliability, and the score was significantly negatively correlated with a positive characteristic—resilience. Furthermore, the results indicated that affiliate stigma scores differed significantly according to the child's developmental stage, with higher scores observed in earlier stages. Multiple regression analysis revealed that parental feelings on the resilience scale were negatively correlated with affiliate stigma; however, the significant predictors differed by the child's developmental stage. These findings suggest that the newly developed scale is useful in assessing affiliate stigma and providing guidance for parents experiencing interpersonal difficulties related to their child's genetic conditions.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70059","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144197158","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Interpretative phenomenological analysis and genetic counseling","authors":"Rachel A. Starr,&nbsp;Jonathan A. Smith","doi":"10.1002/jgc4.70061","DOIUrl":"https://doi.org/10.1002/jgc4.70061","url":null,"abstract":"<p>The role of qualitative methods in healthcare research has gained acceptance over the last 30 years, and there are now a number of well-established approaches available offering a diversity of aims, procedures, and epistemological emphases. This paper focuses on one such approach, Interpretative Phenomenological Analysis (IPA), to provide a discussion and critical overview of its current and future utility for genetic-counseling research. First, the phenomenological and hermeneutic (interpretative) underpinnings of IPA, as well as its methodological commitments to inductive, idiographic, and interrogative working, are considered in the wider contexts of genetic and genomic science, and psychotherapy and counseling research. Then, research using IPA with more direct relevance for genetic counseling is considered in greater depth. This corpus includes those studies that speak to the most frequently endorsed activities of genetic counselors and pass quality evaluations specific to IPA. The literature is organized into three areas: (1) perceptions of genetic risk, (2) how genetic information, such as a diagnosis, personal test, or family history, is understood, and (3) the activity and experience of genetic counseling. Studies concerning perception of risk suggest it is experienced like presence on a radar, becoming more or less prominent or further or nearer from an individual's sense of themselves and their life. Studies concerning the understanding of genetic information imply the importance of multiple contexts in shaping understandings, but also that genetic information can shape experiences of other aspects of life and therefore that contexts may themselves be fluid. IPA used to consider experiences of genetic counseling suggests the importance of expertise in managing uncertainty and the centrality of sense-making in the process for both counselor and counselee. Concluding remarks involve current and future compatibility between IPA and genetic counseling and the call for continuation of what is suggested to be a mutually beneficial dialogue between the two.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70061","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144197159","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Research methodologies in genetic counseling: Grounded theory","authors":"Kristen Fishler Malone,&nbsp;Nikkola Carmichael","doi":"10.1002/jgc4.70060","DOIUrl":"https://doi.org/10.1002/jgc4.70060","url":null,"abstract":"<p>Grounded theory was first described by Glaser and Strauss (1967, <i>The discovery of grounded theory: Strategies for qualitative research</i>. Aldine) as the “discovery of theory from data,” and describes a group of related methodologies that share key elements of study design and data analysis. Since its inception, grounded theory has evolved into several subtypes with different philosophical underpinnings, the most common of which are post-positivism and constructivism. In post-positivist interpretive frameworks, research is guided by a series of rigorous and logically related steps to identify a single objective underlying reality. In constructivist interpretive frameworks, the researcher strives to understand the meaning participants make of a phenomenon within their social and historical context, recognizing that their own position and perspectives shape their interpretation of their participants' experiences. Grounded theory studies include multiple stages of coding, concurrent collection and analysis of data, constant comparative data analysis, theoretical sampling, and memo-writing to capture researcher reflections and evolving theoretical ideas. The outcome of the study should be a substantive theory that is grounded in the data and describes the phenomenon being studied. Publications relevant to the genetic counseling profession have used a grounded theory approach to investigate a range of topics including patient experiences, professional issues, and genetic counseling education. This article describes the theoretical underpinnings and defining characteristics of grounded theory, provides an overview of post-positivist and constructivist grounded theory approaches, and outlines key elements to consider when conducting and evaluating grounded theory research.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 3","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70060","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144206438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}