Amanda Polanski, April Hall, Catherine Reiser, Katherine Uttal, Ashley Kuhl
Leadership is emerging as an important component of health professional training. This study aimed to characterize current leadership development in accredited genetic counseling programs. Semi-structured interviews with program leadership were conducted to explore their program's leadership curricula and their perspectives on the meaning of leadership and its place in genetic counseling training. Eleven interviews were conducted and focused on seven categories related to study goals. Using the Framework Method, themes were generated within the predefined categories. Categories and themes included Defining Leadership (Positional vs Non-positional, Beliefs about Leadership, Role of Leadership in the Field of Genetic Counseling), Leadership Curricula Origin and Delivery (Course-based and Longitudinal, Explicit vs. Implicit, Origin of Material), Role of Faculty and Students (Role of Faculty, Expectations for Students and Qualities of Students), Skills, Evaluation, Priority (Potential for Improvement, Barriers and Facilitators), and Standards (Current Incorporation, Potential Incorporation). All programs had some form of leadership development, but many participants lacked a personal or program definition of leadership. Leadership development varied in curricula and delivery, but most were longitudinal and faculty-driven, with communication, teaching, advocacy, and collaboration as commonly taught skills. However, leadership development opportunities were rarely labeled as such, and participants identified labeling current leadership development as the top area for improvement. Labeling leadership development could improve assessment of current efforts and the ability to address gaps in leadership curricula. This would lay the foundation for necessary intentional leadership development, in turn helping us better advocate for our patients and the profession.
{"title":"Leadership development in genetic counseling graduate programs.","authors":"Amanda Polanski, April Hall, Catherine Reiser, Katherine Uttal, Ashley Kuhl","doi":"10.1002/jgc4.1906","DOIUrl":"https://doi.org/10.1002/jgc4.1906","url":null,"abstract":"Leadership is emerging as an important component of health professional training. This study aimed to characterize current leadership development in accredited genetic counseling programs. Semi-structured interviews with program leadership were conducted to explore their program's leadership curricula and their perspectives on the meaning of leadership and its place in genetic counseling training. Eleven interviews were conducted and focused on seven categories related to study goals. Using the Framework Method, themes were generated within the predefined categories. Categories and themes included Defining Leadership (Positional vs Non-positional, Beliefs about Leadership, Role of Leadership in the Field of Genetic Counseling), Leadership Curricula Origin and Delivery (Course-based and Longitudinal, Explicit vs. Implicit, Origin of Material), Role of Faculty and Students (Role of Faculty, Expectations for Students and Qualities of Students), Skills, Evaluation, Priority (Potential for Improvement, Barriers and Facilitators), and Standards (Current Incorporation, Potential Incorporation). All programs had some form of leadership development, but many participants lacked a personal or program definition of leadership. Leadership development varied in curricula and delivery, but most were longitudinal and faculty-driven, with communication, teaching, advocacy, and collaboration as commonly taught skills. However, leadership development opportunities were rarely labeled as such, and participants identified labeling current leadership development as the top area for improvement. Labeling leadership development could improve assessment of current efforts and the ability to address gaps in leadership curricula. This would lay the foundation for necessary intentional leadership development, in turn helping us better advocate for our patients and the profession.","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140663290","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}
Kayla Horowitz, Kimberly Zayhowski, Nicole Palmour, Darius Haghighat, Yann Joly
Intersex individuals, encompassing people with diverse sex characteristics that do not fit binary frameworks of sex, have long faced a history of medical secrecy, discrimination, and societal stigma, contributing to their limited social visibility. In recent years, increased awareness of intersex issues and a robust advocacy movement have drawn significant attention to the experiences of intersex individuals and their families. This study contributes to the existing literature by examining the experiences and needs of parents of intersex individuals within genetic healthcare systems, bridging a critical gap, and advocating for more comprehensive and supportive healthcare practices. Semi‐structured interviews were conducted with 14 parents of intersex individuals, and reflexive thematic analysis was used to inductively generate four major themes. Themes highlighted the need for improved accessibility of intersex healthcare, the importance of multidisciplinary healthcare teams, and the significance of clinical diagnosis provided by genetics professionals. Furthermore, the study highlighted the necessity of a thoughtful approach to information provision and the impact of genetic investigations on family dynamics. Genetics professionals can play a pivotal role in raising awareness about intersex variations, improving diagnostic processes, collaborating within healthcare teams, and providing specialized support to address psychosocial concerns. The study underscores the importance of treating families as a collective entity and addressing the impact of genetic investigations on the family unit. By addressing the challenges and implementing the recommendations outlined, healthcare institutions can create a more compassionate, inclusive, and effective healthcare environment for the intersex community.
{"title":"Enhancing intersex healthcare: A qualitative study of parental perspectives on the role of genetics","authors":"Kayla Horowitz, Kimberly Zayhowski, Nicole Palmour, Darius Haghighat, Yann Joly","doi":"10.1002/jgc4.1905","DOIUrl":"https://doi.org/10.1002/jgc4.1905","url":null,"abstract":"Intersex individuals, encompassing people with diverse sex characteristics that do not fit binary frameworks of sex, have long faced a history of medical secrecy, discrimination, and societal stigma, contributing to their limited social visibility. In recent years, increased awareness of intersex issues and a robust advocacy movement have drawn significant attention to the experiences of intersex individuals and their families. This study contributes to the existing literature by examining the experiences and needs of parents of intersex individuals within genetic healthcare systems, bridging a critical gap, and advocating for more comprehensive and supportive healthcare practices. Semi‐structured interviews were conducted with 14 parents of intersex individuals, and reflexive thematic analysis was used to inductively generate four major themes. Themes highlighted the need for improved accessibility of intersex healthcare, the importance of multidisciplinary healthcare teams, and the significance of clinical diagnosis provided by genetics professionals. Furthermore, the study highlighted the necessity of a thoughtful approach to information provision and the impact of genetic investigations on family dynamics. Genetics professionals can play a pivotal role in raising awareness about intersex variations, improving diagnostic processes, collaborating within healthcare teams, and providing specialized support to address psychosocial concerns. The study underscores the importance of treating families as a collective entity and addressing the impact of genetic investigations on the family unit. By addressing the challenges and implementing the recommendations outlined, healthcare institutions can create a more compassionate, inclusive, and effective healthcare environment for the intersex community.","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140617241","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}
Jade Howard, Karen Forrest Keenan, Fadhila Mazanderani, Martin R. Turner, Louise Locock
Predictive genetic testing is increasingly available for individuals with a heightened risk of motor neuron disease (MND). However, little is known about how they decide whether or not to get tested, and how they experience this process. This paper reports findings from a constructivist grounded theory‐informed interview study with 24 family members of people with identified or suspected inherited MND (iMND). Fourteen did not know their genetic status, and nine had decided to have predictive testing, of whom six tested positive for the pathogenic gene variant identified in their family and three tested negative. One additional person was identified as negative through a parent's negative result. This paper explores the diverse ways people approached testing, and the many factors and motivations involved, based on personal attitudes and goals, experiences of living with genetic risk, and wider family considerations and circumstances. Results were met with a range of emotions; whatever the outcome, the news disrupted each person's view of the future, and they adapted in their own way and time. Support after results was variable and a perceived lack of support impacted coping and the ability to move forwards. This paper situates findings against literature on other genetic conditions, highlighting experiences as grounded in the unique characteristics of iMND. Thus, it emphasizes the need for disease‐specific guidelines and support structures around predictive genetic testing in this context. Understanding people's experiences and responding to these needs is particularly timely given the uptake of testing amongst this group is anticipated to rise with increasing access to genetic testing for people with MND, and gene‐specific clinical trials.
{"title":"Experiences of predictive genetic testing in inherited motor neuron disease: Findings from a qualitative interview study","authors":"Jade Howard, Karen Forrest Keenan, Fadhila Mazanderani, Martin R. Turner, Louise Locock","doi":"10.1002/jgc4.1904","DOIUrl":"https://doi.org/10.1002/jgc4.1904","url":null,"abstract":"Predictive genetic testing is increasingly available for individuals with a heightened risk of motor neuron disease (MND). However, little is known about how they decide whether or not to get tested, and how they experience this process. This paper reports findings from a constructivist grounded theory‐informed interview study with 24 family members of people with identified or suspected inherited MND (iMND). Fourteen did not know their genetic status, and nine had decided to have predictive testing, of whom six tested positive for the pathogenic gene variant identified in their family and three tested negative. One additional person was identified as negative through a parent's negative result. This paper explores the diverse ways people approached testing, and the many factors and motivations involved, based on personal attitudes and goals, experiences of living with genetic risk, and wider family considerations and circumstances. Results were met with a range of emotions; whatever the outcome, the news disrupted each person's view of the future, and they adapted in their own way and time. Support after results was variable and a perceived lack of support impacted coping and the ability to move forwards. This paper situates findings against literature on other genetic conditions, highlighting experiences as grounded in the unique characteristics of iMND. Thus, it emphasizes the need for disease‐specific guidelines and support structures around predictive genetic testing in this context. Understanding people's experiences and responding to these needs is particularly timely given the uptake of testing amongst this group is anticipated to rise with increasing access to genetic testing for people with MND, and gene‐specific clinical trials.","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140617236","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}
Inheriting a pathogenic variant in the BRCA1 or BRCA2 gene considerably increases a woman's risk levels for developing breast and ovarian cancer. In addition to serious physical health implications, women with a BRCA pathogenic variant may face psychosocial challenges, including those related to navigating the often demanding process of communicating about topics regarding BRCA with family and other social network members. Based on in-depth interviews with 24 women who tested BRCA-positive, we found that—consistent with the conceptualization of communication work articulated by Donovan-Kicken et al. (2012) as an extension of the theory of illness trajectories (Corbin & Strauss, 1988)—the labor of communicating about BRCA genetic risk entails (a) duties, (b) challenges, (c) strategies, and (d) shared work. Within each category, our results illuminate particular characteristics of communication work for women who have tested BRCA-positive, which are commonly tied to the profound health consequences that a pathogenic variant may have for them and, potentially, for their genetic relatives. Our findings offer useful theoretical implications regarding communication work in this context. Furthermore, our results yield valuable practical insight for genetic counselors and other health care professionals regarding the struggles that can accompany communication work for women who have tested BRCA-positive as well as the strategies that participants reported using to manage or avoid these challenges.
{"title":"Examining the communication work of women who have tested BRCA-positive: “I feel this responsibility to let people know”","authors":"Summer C. Martin, Allison M. Scott, Anne M. Stone","doi":"10.1002/jgc4.1898","DOIUrl":"https://doi.org/10.1002/jgc4.1898","url":null,"abstract":"Inheriting a pathogenic variant in the <i>BRCA1</i> or <i>BRCA2</i> gene considerably increases a woman's risk levels for developing breast and ovarian cancer. In addition to serious physical health implications, women with a BRCA pathogenic variant may face psychosocial challenges, including those related to navigating the often demanding process of communicating about topics regarding BRCA with family and other social network members. Based on in-depth interviews with 24 women who tested BRCA-positive, we found that—consistent with the conceptualization of <i>communication work</i> articulated by Donovan-Kicken et al. (2012) as an extension of the theory of illness trajectories (Corbin & Strauss, 1988)—the labor of communicating about BRCA genetic risk entails (a) <i>duties</i>, (b) <i>challenges</i>, (c) <i>strategies</i>, and (d) <i>shared work</i>. Within each category, our results illuminate particular characteristics of communication work for women who have tested BRCA-positive, which are commonly tied to the profound health consequences that a pathogenic variant may have for them and, potentially, for their genetic relatives. Our findings offer useful theoretical implications regarding communication work in this context. Furthermore, our results yield valuable practical insight for genetic counselors and other health care professionals regarding the struggles that can accompany communication work for women who have tested BRCA-positive as well as the strategies that participants reported using to manage or avoid these challenges.","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140580178","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}
Sarah Burzynski, Jaqueline Leonard, Jenna Plamondon Albrecht, Lauren E. Doyle, Rachel Mills
The introduction of cell‐free DNA screening has resulted in increased prenatal identification of sex chromosome aneuploidies (SCAs). This study aimed to evaluate genetic counselor experiences disclosing SCAs positive prenatal screening or testing results and genetic counselor‐reported parental questions regarding sex, gender, and sexual orientation. Forty‐eight prenatal genetic counselors completed the survey. When asked to quantify their experiences, 97.9% of counselors reported disclosing a SCAs positive screen result within the previous year, and 81.3% disclosed a diagnostic result. Of those counselors, 53.8% reported always or often receiving parental questions about sex, 33% always or often about gender, and 25% always or often regarding sexual orientation. Counselors were asked to share examples of parental questions following a positive screen or diagnostic testing for SCAs. Parental questions were stratified by karyotype and content analysis revealed questions about the fetus' sex, anatomy, reproduction, being cisgender, gender expression, behavior, being transgender, and sexual orientation. The examples of parental questions provided by genetic counselors suggested some parents may have misconceptions about the intersection of SCAs with sex, gender, and sexual orientation following prenatal screening or diagnostic testing. The majority of counselors (83.3%) agreed to some extent that they desired further education on responding to parental questions about SCAs. Findings from this research suggest a need for genetic counseling strategies that accurately and respectfully discuss SCAs in the context of sex, gender, and sexual orientation with prenatal patients.
{"title":"Parental questions about sex chromosome aneuploidies regarding sex, gender, and sexual orientation as reported by genetic counselors in a prenatal setting","authors":"Sarah Burzynski, Jaqueline Leonard, Jenna Plamondon Albrecht, Lauren E. Doyle, Rachel Mills","doi":"10.1002/jgc4.1897","DOIUrl":"https://doi.org/10.1002/jgc4.1897","url":null,"abstract":"The introduction of cell‐free DNA screening has resulted in increased prenatal identification of sex chromosome aneuploidies (SCAs). This study aimed to evaluate genetic counselor experiences disclosing SCAs positive prenatal screening or testing results and genetic counselor‐reported parental questions regarding sex, gender, and sexual orientation. Forty‐eight prenatal genetic counselors completed the survey. When asked to quantify their experiences, 97.9% of counselors reported disclosing a SCAs positive screen result within the previous year, and 81.3% disclosed a diagnostic result. Of those counselors, 53.8% reported always or often receiving parental questions about sex, 33% always or often about gender, and 25% always or often regarding sexual orientation. Counselors were asked to share examples of parental questions following a positive screen or diagnostic testing for SCAs. Parental questions were stratified by karyotype and content analysis revealed questions about the fetus' sex, anatomy, reproduction, being cisgender, gender expression, behavior, being transgender, and sexual orientation. The examples of parental questions provided by genetic counselors suggested some parents may have misconceptions about the intersection of SCAs with sex, gender, and sexual orientation following prenatal screening or diagnostic testing. The majority of counselors (83.3%) agreed to some extent that they desired further education on responding to parental questions about SCAs. Findings from this research suggest a need for genetic counseling strategies that accurately and respectfully discuss SCAs in the context of sex, gender, and sexual orientation with prenatal patients.","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140579909","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}
Ariane J. A. G. Van Tongerloo, Hannah Verdin, Wouter Steyaert, Paul J. Coucke, Sandra Janssens
Rapidly evolving genomic technologies have made genetic expanded carrier screening (ECS) possible for couples considering a pregnancy. The aim of ECS is to identify couples at risk of having a child affected with a severe disorder and to facilitate their reproductive decision‐making process. The ECS test we offer at our center, called BeGECS (Belgian Genetic ECS), consists of 1268 autosomal recessive (AR) and X‐linked pathogenic genes, including severe childhood‐onset disorders. However, thus far data are scarce regarding the actual uptake of preconception ECS in a clinical setting. Therefore, our aim was to describe the characteristics of 407 couples to whom ECS was offered at the Center for Medical Genetics of the University Hospital Ghent (CMGG). In addition, we aimed to identify their reasons for accepting or declining BeGECS. Between October 2019 and January 2023, 407 preconception couples were offered BeGECS and were asked to fill in a questionnaire after their decision. Of the 407 couples participating in the survey, 270 (66%) decided to take the test and 137 (34%) declined. We observed that age, highest education level as well as indication for consultation were statistically different between the group that accepted to take the test and the group that declined (p = 0.037). In particular, age and education level were substantially higher in the group that accepted the test. Major reasons for taking BeGECS include prevention, wishing to obtain all information possible, helping preparing their future reproductive decision and increasing their sense of control by being informed. However, couples that do not chose to take BeGECS stated that too much information would make them anxious, that the result would not change their decision to have children, that they do not want to spend money on something that will not happen and that they do not worry about their family history. These findings show that the majority of preconception couples that were offered ECS, accepted the test.
{"title":"Accepting or declining preconception expanded carrier screening: An exploratory study with 407 couples","authors":"Ariane J. A. G. Van Tongerloo, Hannah Verdin, Wouter Steyaert, Paul J. Coucke, Sandra Janssens","doi":"10.1002/jgc4.1899","DOIUrl":"https://doi.org/10.1002/jgc4.1899","url":null,"abstract":"Rapidly evolving genomic technologies have made genetic expanded carrier screening (ECS) possible for couples considering a pregnancy. The aim of ECS is to identify couples at risk of having a child affected with a severe disorder and to facilitate their reproductive decision‐making process. The ECS test we offer at our center, called BeGECS (Belgian Genetic ECS), consists of 1268 autosomal recessive (AR) and X‐linked pathogenic genes, including severe childhood‐onset disorders. However, thus far data are scarce regarding the actual uptake of preconception ECS in a clinical setting. Therefore, our aim was to describe the characteristics of 407 couples to whom ECS was offered at the Center for Medical Genetics of the University Hospital Ghent (CMGG). In addition, we aimed to identify their reasons for accepting or declining BeGECS. Between October 2019 and January 2023, 407 preconception couples were offered BeGECS and were asked to fill in a questionnaire after their decision. Of the 407 couples participating in the survey, 270 (66%) decided to take the test and 137 (34%) declined. We observed that age, highest education level as well as indication for consultation were statistically different between the group that accepted to take the test and the group that declined (<jats:italic>p</jats:italic> = 0.037). In particular, age and education level were substantially higher in the group that accepted the test. Major reasons for taking BeGECS include prevention, wishing to obtain all information possible, helping preparing their future reproductive decision and increasing their sense of control by being informed. However, couples that do not chose to take BeGECS stated that too much information would make them anxious, that the result would not change their decision to have children, that they do not want to spend money on something that will not happen and that they do not worry about their family history. These findings show that the majority of preconception couples that were offered ECS, accepted the test.","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140579669","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}
Karina Franca, Kathleen B. Swenson, Catharine Wang
This study set out to investigate the experiences of bilingual/multilingual genetic counselors in the United States and Canada who have counseled in a non‐English language and characterize their training experiences to identify potential areas for improvement. A total of 32 bilingual and/or multilingual genetic counselors completed online surveys. Approximately 83% of participants typically counsel patients in languages for which they believe their proficiency is at least good without the participation of an interpreter. Challenges to providing language‐concordant care include insufficient patient‐facing translation tools/resources, with roughly half reporting they have created their own resources out of necessity. For training programs, there was a strong desire for more supervision in bilingual/multilingual genetic counseling students' non‐English language during training to help foster genetics‐related language skills development.
{"title":"Counseling in a different language: An analysis of experiences and resources in multilingual genetic counseling","authors":"Karina Franca, Kathleen B. Swenson, Catharine Wang","doi":"10.1002/jgc4.1902","DOIUrl":"https://doi.org/10.1002/jgc4.1902","url":null,"abstract":"This study set out to investigate the experiences of bilingual/multilingual genetic counselors in the United States and Canada who have counseled in a non‐English language and characterize their training experiences to identify potential areas for improvement. A total of 32 bilingual and/or multilingual genetic counselors completed online surveys. Approximately 83% of participants typically counsel patients in languages for which they believe their proficiency is at least good without the participation of an interpreter. Challenges to providing language‐concordant care include insufficient patient‐facing translation tools/resources, with roughly half reporting they have created their own resources out of necessity. For training programs, there was a strong desire for more supervision in bilingual/multilingual genetic counseling students' non‐English language during training to help foster genetics‐related language skills development.","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140579541","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}
The transition to graduate school is marked by stress, with academic demands and interpersonal interactions being primary concerns for genetic counseling students. For Black, Indigenous, and People of Color (BIPOC) graduate students, additional stressors caused by the “minority tax” and microaggressions impact their sense of belonging and inclusion. This prospective longitudinal study employed a constructivist grounded theory approach to investigate the experiences of first‐year BIPOC genetic counseling students as they transitioned into the first year of their graduate training. We conducted semi‐structured interviews with 26 first‐year genetic counseling students at three key time points during their first year and analyzed them using reflexive thematic analysis. Here, we report themes related to stressors when transitioning into the genetic counseling training environment, the role of relationships as a source of support in navigating these challenges, and the impact of cohort dynamics on the training experience. Stressors included managing academic rigor and time demands, navigating microaggressions, reactions to discussions about diversity, equity, inclusion, and justice (DEIJ), and managing mental health. Peer relationships emerge as pivotal source of support, but challenging dynamics within the cohort negatively impacted participants, highlighting the importance of fostering an inclusive training environment. Since programs have less control over the composition of each cohort with the advent of the Match system in 2018, we recommend the use of community‐building and debriefing activities to strengthen healthy relationships and address problematic dynamics. We recommend that training programs be proactive in creating mentoring relationships between faculty and students rather than waiting until students ask for help. Ultimately, we advocate for a holistic approach to genetic counseling training that maintains academic rigor but also prioritizes the creation of supportive, inclusive, and culturally sensitive learning environments for all students.
{"title":"The impact of cohort relationships on BIPOC genetic counseling students: Results from a longitudinal qualitative study","authors":"Nikkola Carmichael, Kimberly Zayhowski, Joselyn Saenz Diaz","doi":"10.1002/jgc4.1895","DOIUrl":"https://doi.org/10.1002/jgc4.1895","url":null,"abstract":"The transition to graduate school is marked by stress, with academic demands and interpersonal interactions being primary concerns for genetic counseling students. For Black, Indigenous, and People of Color (BIPOC) graduate students, additional stressors caused by the “minority tax” and microaggressions impact their sense of belonging and inclusion. This prospective longitudinal study employed a constructivist grounded theory approach to investigate the experiences of first‐year BIPOC genetic counseling students as they transitioned into the first year of their graduate training. We conducted semi‐structured interviews with 26 first‐year genetic counseling students at three key time points during their first year and analyzed them using reflexive thematic analysis. Here, we report themes related to stressors when transitioning into the genetic counseling training environment, the role of relationships as a source of support in navigating these challenges, and the impact of cohort dynamics on the training experience. Stressors included managing academic rigor and time demands, navigating microaggressions, reactions to discussions about diversity, equity, inclusion, and justice (DEIJ), and managing mental health. Peer relationships emerge as pivotal source of support, but challenging dynamics within the cohort negatively impacted participants, highlighting the importance of fostering an inclusive training environment. Since programs have less control over the composition of each cohort with the advent of the Match system in 2018, we recommend the use of community‐building and debriefing activities to strengthen healthy relationships and address problematic dynamics. We recommend that training programs be proactive in creating mentoring relationships between faculty and students rather than waiting until students ask for help. Ultimately, we advocate for a holistic approach to genetic counseling training that maintains academic rigor but also prioritizes the creation of supportive, inclusive, and culturally sensitive learning environments for all students.","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140579670","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":"Unlocking the next phase of development for our profession: Developing and consolidating the recognition of genetic counseling as a rigorous area of academic study","authors":"Jehannine Austin","doi":"10.1002/jgc4.1901","DOIUrl":"10.1002/jgc4.1901","url":null,"abstract":"","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140579667","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}
Bethany Stafford-Smith, Jennifer A Sullivan, Marion McAlister, Nicole Walley, Vandana Shashi, Allyn McConkie-Rosell
Ultra rare disorders are being diagnosed at an unprecedented rate, due to genomic sequencing. These diagnoses are often a new gene association, for which little is known, and few share the diagnosis. For these diagnoses, we use the term emerging-ultrarare disorder (E-URD), defined as <100 diagnosed individuals. We contacted 20 parents of children diagnosed with an E-URD through the Duke University Research Sequencing Clinic. Seventeen completed semi-structured interviews exploring parental perspectives (7/17 had children in publications describing the phenotype; 4/17 had children in the first publication establishing a new disorder). Data were analyzed using a directed content approach informed by an empowerment framework. Parents reported a range of responses, including benefits of a diagnosis and challenges of facing the unknown, some described feeling lost and confused, while others expressed empowerment. Empowerment characteristics were hope for the future, positive emotions, engagement, and confidence/self-efficacy to connect with similar others, partner with healthcare providers, and seek new knowledge. We identified a subset of parents who proactively engaged researchers, supported research and publications, and created patient advocacy and support organizations to connect with and bolster similarly diagnosed families. Other parents reported challenges of low social support, low tolerance for uncertainty, limited knowledge about their child's disorder, as well as difficulty partnering with HCPs and connecting to an E-URD community. An overarching classification was developed to describe parental actions taken after an E-URD diagnosis: adjusting, managing, and pioneering. These classifications may help genetic counselors identify and facilitate positive steps with parents of a child with an E-URD.
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