Nicole M. Lee, Matthew S. VanDyke, Alan Abitbol, Kaylynne Wallace, Christina Meneses
{"title":"An analysis of direct-to-consumer genetic testing portals and their communication of health risk and test limitations","authors":"Nicole M. Lee, Matthew S. VanDyke, Alan Abitbol, Kaylynne Wallace, Christina Meneses","doi":"10.1002/jgc4.1967","DOIUrl":"10.1002/jgc4.1967","url":null,"abstract":"<p>Direct-to-consumer (DTC) genetic testing has become incredibly popular for assessing health risk related to specific diseases. However, how this risk is conveyed and whether the limitations of the tests are fully communicated can impact how customers interpret results. Through a qualitative content analysis of three different DTC genetic testing online portals, we examine how companies communicate relative and absolute health risks, the extent to which limitations are communicated, and how this information is presented. Findings suggest that relative risk was more prominently communicated than absolute risk and that it was used to organize and prioritize results. Further, risk information was often communicated using statistical terms and concepts that may not be accessible to all users. Test limitations that were communicated included the inability to diagnose a disease, the importance of lifestyle factors, and that the tests do not account for all genetic variants. Although companies included this information, it was not visually prominent.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.1967","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142301294","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}
Myka Radecki, Colin Halverson, Leah Wetherill, Mandy Miller
{"title":"Patient perceptions of genetic counselors' role and emotional support needs in adults with Parkinson's disease","authors":"Myka Radecki, Colin Halverson, Leah Wetherill, Mandy Miller","doi":"10.1002/jgc4.1971","DOIUrl":"10.1002/jgc4.1971","url":null,"abstract":"<p>One of the roles of a genetic counselor, when returning genetic test results for Parkinson's disease (PD), is to provide emotional support to the patient. However, whether or not these needs are being met in the genetic counseling setting is unknown. In this cross-sectional qualitative study, semi-structured interviews with 15 PD research participants were conducted to evaluate their emotional needs and expectations throughout the genetic counseling process. Interview questions assessed participants' background understanding of genetic counseling, informational and emotional expectations prior to the genetic counseling session, and experience with emotional support throughout the genetic counseling process. Through reflexive thematic analysis, we defined four major themes: (1) knowledge of genetic counselors' role in education but not in emotional support, (2) limited expectations for emotional support, (3) emotional support is not sought from genetic counselors, and (4) emotional support from genetic counselors was viewed ambivalently. One of the most important findings from this study was that regardless of whether participants had previously heard of genetic counseling, none of the participants knew that the provision of emotional support was an aspect of the genetic counselor's role. Although the majority of participants did not expect emotional support from their genetic counselor, over 60% of participants recognized that receiving emotional support is or could be important to them. Collectively, these findings highlight the necessity for enhanced patient education pertaining to the informational and emotional support that genetic counselors are trained to provide. We suggest that clarifying the role of emotional support with patients may increase comfort in disclosing their emotional needs with genetic counselors, improving patient-centered care overall.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.1971","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142248361","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}
Tiffany Lepard, Mary Dugan, Elizabeth Cleveland, Chelsea Menke
{"title":"Clinical genetic counselors' use of people- and identity-first language in regard to patients' identification with disability","authors":"Tiffany Lepard, Mary Dugan, Elizabeth Cleveland, Chelsea Menke","doi":"10.1002/jgc4.1972","DOIUrl":"10.1002/jgc4.1972","url":null,"abstract":"<p>The language surrounding disabilities has evolved from derogatory terms to the adoption of people-first language. However, identity-first language is being advocated for by some within the disability community. Using the preferred terminology is crucial to demonstrate respect and prevent stigmatization, especially in healthcare settings like genetic counseling, where language can impact relationships with the community. However, the specific language practices of genetic counselors and their underlying reasons are unclear. This qualitative study explored the language practices employed by genetic counselors when interacting with individuals with disabilities. Fifteen interviews were conducted with genetic counselors who had clinical experience. Reflexive thematic analysis revealed that the perceptions and practices about language used with patients and disability communities overall varied, with overarching themes of people-first language is the preferred and default language, counselors mirror patient language with some exceptions, acknowledging the evolving nature of language, recognizing differences in language preferences, and reacting to outdated terminology. These findings show the importance of continuing education to stay abreast of preferred verbiage within communities and individual patients.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.1972","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142208208","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}
Hollie Cooper, Jane Simpson, Maria Dale, Fiona J. R. Eccles
{"title":"Maintaining psychological well-being when living at risk of Huntington's disease: An interpretative phenomenological analysis","authors":"Hollie Cooper, Jane Simpson, Maria Dale, Fiona J. R. Eccles","doi":"10.1002/jgc4.1965","DOIUrl":"10.1002/jgc4.1965","url":null,"abstract":"<p>Living at risk of a genetically inherited disease can be a challenging experience causing psychological distress as well as the possibility of the genetic disease leading to physical health problems. Huntington's disease (HD) is a genetic, neurodegenerative condition. It causes motor dysfunction, cognitive decline and, during the progression of the disease, different psychological difficulties are common. A total of 12 participants living at risk of HD were interviewed and interpretative phenomenological analysis methodology was used to understand their experiences of maintaining psychological well-being. This resulted in three themes: (1) “you're constantly in limbo”: living in two worlds; (2) “I have to live, just bloody live”: managing the possibility of a time-limited lifespan; and (3) “I try and try my hardest to look past the disease”: the exhausting quest to keep living well. The findings indicated a need for improved knowledge within professional settings, such as for family doctors, counselors, and other health professionals, specific strategies that genetic counselors can use to support this group, and provision of accessible support and implementation of systemic interventions that would offer support for psychological coping strategies and communication around well-being to the individual and their family unit. Future research could contribute to the formation of such knowledge and the provision of HD-aligned services to help support the psychological well-being of people living at risk of HD.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.1965","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142208210","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}
Kayla Horowitz, Kimberly Zayhowski, Nicole Palmour, Darius Haghighat, Yann Joly
{"title":"Navigating the disclosure landscape: Parents' perspectives on healthcare professionals' role in supporting intersex children and families","authors":"Kayla Horowitz, Kimberly Zayhowski, Nicole Palmour, Darius Haghighat, Yann Joly","doi":"10.1002/jgc4.1962","DOIUrl":"10.1002/jgc4.1962","url":null,"abstract":"<p>Intersex, an umbrella term, describes individuals with sex characteristics that cannot be exclusively categorized into binary definitions of male or female. The intersex community faces a lack of social visibility perpetuated by a history of medical discrimination and pathologization shaped by “normalizing” genital surgeries without the child's consent. Despite efforts to reform clinical practice, there remains a paucity of research centering the needs of the intersex community and their families. This study explored parents' perspectives on how healthcare professionals (HCPs), such as genetics professionals, can provide patient-centered education and support when parents first learn of their child's intersex variation, with the aim of offering recommendations to HCPs to promote parental adjustment and protect intersex children's right to autonomy. Thirteen qualitative semi-structured interviews were conducted with 14 parents of intersex children. Through reflexive thematic analysis, under the framework of an agency-based approach to intersex health, thematic categories were inductively conceptualized, including barriers and facilitators to HCPs' sensitivity and to parental adjustment in the early disclosure environment. Barriers to HCPs' sensitivity were imposed by educational, religious, or medical institutions, along with sociocultural prejudices and pathologizing language. Barriers to parental adaptation included uncertainty regarding their child's future, sociocultural gender norms, and unsuitable information provision. Incorporating parental needs in the disclosure environment can facilitate familial acceptance, including normalization of variations of sex characteristics (VSCs), enhanced medical education, facilitation of patients' navigation, and prioritization of parents' social support needs.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.1962","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142226625","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}
Brittany L. Stewart, Hannah Helber, Sarah A. Bannon, Natalie T. Deuitch, Meghan Ferguson, Elise Fiala, Kayla V. Hamilton, Janet Malcolmson, Bojana Pencheva, Kelcy Smith-Simmer
{"title":"Risk assessment and genetic counseling for hematologic malignancies—Practice resource of the National Society of Genetic Counselors","authors":"Brittany L. Stewart, Hannah Helber, Sarah A. Bannon, Natalie T. Deuitch, Meghan Ferguson, Elise Fiala, Kayla V. Hamilton, Janet Malcolmson, Bojana Pencheva, Kelcy Smith-Simmer","doi":"10.1002/jgc4.1959","DOIUrl":"10.1002/jgc4.1959","url":null,"abstract":"<p>Hematologic malignancies (HMs) are a heterogeneous group of cancers impacting individuals of all ages that have been increasingly recognized in association with various germline predisposition syndromes. Given the myriad of malignancy subtypes, expanding differential diagnoses, and unique sample selection requirements, evaluation for hereditary predisposition to HM presents both challenges as well as exciting opportunities in the ever-evolving field of genetic counseling. This practice resource has been developed as a foundational resource for genetic counseling approaches to hereditary HMs and aims to empower genetic counselors who encounter individuals and families with HMs in their practice.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.1959","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142074572","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}
Maria Katia Vine, Elizabeth Kellom, Ashley Kuhl, Laurie Simone, Charité N. Ricker, Laura Birkeland
{"title":"Spanish language opportunities in genetic counseling training programs in the United States","authors":"Maria Katia Vine, Elizabeth Kellom, Ashley Kuhl, Laurie Simone, Charité N. Ricker, Laura Birkeland","doi":"10.1002/jgc4.1958","DOIUrl":"10.1002/jgc4.1958","url":null,"abstract":"<p>This cross-sectional survey study explores ongoing initiatives to foster diversity and inclusivity within the field of genetic counseling, specifically focusing on opportunities within graduate programs for students to enhance language and counseling skills in Spanish, thereby fostering language concordance in genetic counseling settings. With a response rate of 44.8% (26/58) across genetic counseling graduate programs, our study provides an overview of educational offerings in Spanish, encompassing patient-facing, non-patient-facing, and combined opportunities. Of the programs that completed the survey, 73.1% (19/26) offer Spanish language opportunities. Several perceived benefits were identified by those that offer opportunities, including fostering cultural humility and diversity within the field, increasing awareness and accessibility of genetic counseling services, and facilitating involvement in research within minority groups. The information gathered from this study can be a resource for graduate programs seeking insights into effective strategies to incorporate Spanish language opportunities. Additionally, these results may also serve as a source of inspiration for students who want to apply their Spanish language skills in their training and future careers. Lastly, we propose ideas to enhance and expand the training of bilingual genetic counseling students in Spanish.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.1958","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142082653","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}
N. Belnap, K. Ramsey, A. Abraham, A. Ryan, S. Rangasamy, A. Bonfitto, M. Naymik, M. Huentelman, S. Strom, D. Perry, A. Subramaniam, W. W. Grody, S. Szelinger, V. Narayanan
{"title":"Expanded carrier screening for inherited genetic disease using exome and genome sequencing","authors":"N. Belnap, K. Ramsey, A. Abraham, A. Ryan, S. Rangasamy, A. Bonfitto, M. Naymik, M. Huentelman, S. Strom, D. Perry, A. Subramaniam, W. W. Grody, S. Szelinger, V. Narayanan","doi":"10.1002/jgc4.1964","DOIUrl":"10.1002/jgc4.1964","url":null,"abstract":"<p>The goal of this study was to assess the feasibility of using exome (ES) and genome sequencing (GS) in guiding preconception genetic screening (PCGS) for couples who are planning to conceive by creating a workflow for identifying risk alleles for autosomal recessive (AR) and X-linked (XL) disorders without the constraints of a predetermined, targeted gene panel. There were several limitations and challenges related to reporting and the technical aspects of ES and GS, which are listed in the discussion. We selected 150 couples from a cohort of families (trios) enrolled in a research protocol where the goal was to define the genetic etiology of disease in an affected child. Pre-existing, de-identified parental sequencing data were analyzed to define variants that would place the couple at risk of having a child affected by an AR or XL disorder. We identified 17 families who would be selected for counseling about risk alleles. We noted that only 3 of these at-risk couples would be identified if we limited ourselves to the current ACMG-recommended expanded carrier screening gene panel. ES and GS successfully identified couples who are at risk of having a child with a rare AR or XL disorder that would have been missed by the current recommended guidelines. Current limitations of this approach include ethical concerns, difficulties in reporting results including variant calling due to the rare nature of some of the variants, determining which disorders to report, as well as technical difficulties in detecting certain variants such as repeat expansions.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.1964","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142074571","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}
Sojin Yang, Yoon Jung Chang, Kyung Ok Kim, Beom Hee Lee, Sun-Young Kong, Marion McAllister, In Hee Choi
{"title":"Cross-cultural validation of the genetic counseling outcome scale in Korea","authors":"Sojin Yang, Yoon Jung Chang, Kyung Ok Kim, Beom Hee Lee, Sun-Young Kong, Marion McAllister, In Hee Choi","doi":"10.1002/jgc4.1961","DOIUrl":"10.1002/jgc4.1961","url":null,"abstract":"<p>The Genetic Counseling Outcome Scale (GCOS-24) was developed to measure patient-reported outcomes to evaluate the effectiveness of genetic counseling and testing services. In the current study, the Korean version of GCOS (K-GCOS) was developed to reflect the sociocultural characteristics of Korea, and its clinical applicability was assessed. Overall, 231 Koreans, including patients with genetic diseases and their family members, participated and completed the K-GCOS, Hospital Anxiety and Depression Scale (HADS), Multidimensional Health Locus of Control (MHLC) scale, and Satisfaction with Life Scale (SWLS). Validity was examined by assessing the correlations between K-GCOS scores and other relevant scale scores. Reliability was confirmed using Cronbach's alpha and test–retest scores, measured over 2 weeks. We performed exploratory factor analysis of the five structures of GCOS-24. For K-GCOS, four-factor structures were identified: “cognitive–behavioral control,” “uncertainty about control,” “hope,” and “emotional regulation.” Four original GCOS-24 items were removed because of low factor loadings and small inter-item correlations. K-GCOS-20 scores were positively correlated with SWLS (<i>r</i> = 0.456) and MHLC-internal (<i>r</i> = 0.213) scores but negatively correlated with HADS (anxiety <i>r</i> = −0.428, depression <i>r</i> = −0.469) and MHLC-internal (<i>r</i> = −0.278) scores. These findings demonstrate that K-GCOS-20 is a reliable and valid tool for evaluating genetic counseling services in Korea.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923504/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142037807","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":"Adoptees' experiences of using direct-to-consumer genetic testing and determinants of this use: A mixed study in Quebec","authors":"Johanna Despax, Carl Lacharité, Evelyne Bouteyre","doi":"10.1002/jgc4.1963","DOIUrl":"10.1002/jgc4.1963","url":null,"abstract":"<p>Adoptees' use of direct-to-consumer genetic testing (DTC-GT) is known to raise both ethical and emotional issues, and it can also challenge their identity. The objective of the present study was to describe the experiences of DTC-GT use among adoptees living in Quebec and to better understand the benefits and disadvantages of use. We adopted a mixed method approach whereby a questionnaire comprising standardized scales was administered to 143 adoptees who had used genetic testing and 40 adoptees who had not. Semi-structured interviews were performed with five respondents from the DTC-GT use group. The quantitative and qualitative data were analyzed and integrated together using the Pillar Integration Process. The results highlighted familial reunion as the primary motivation for the use of DTC-GT among responding adoptees. Reported challenges included needing help with results interpretation, as well as the need for autonomy in the ownership of the results. Participants describe not being particularly concerned by potential ethical issues, describing the benefits of the tests as more important than possible disadvantages. Overall, participants had a good experience of using DTC-GT, and users were less anxious. Various factors associated with the use and experience of use were highlighted (age, psychological distress, community membership, etc.). The results from this study provide much-needed information about adoptees' needs regarding DTC-GT, highlight key risk factors, and introduces best practice recommendations so that adoptees are properly informed and supported when pursuing DTC-GT.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2024-08-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.1963","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142037806","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}