Journal of Genetic Counseling最新文献

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BIPOC genetic counselors' reflections on the impact of sociopolitical events in 2025: A brief report from a longitudinal qualitative study BIPOC遗传咨询师对2025年社会政治事件影响的反思:一项纵向定性研究的简要报告。
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2026-04-08 DOI: 10.1002/jgc4.70204
Nikkola Carmichael, Kimberly Zayhowski, Joselyn Saenz Diaz
{"title":"BIPOC genetic counselors' reflections on the impact of sociopolitical events in 2025: A brief report from a longitudinal qualitative study","authors":"Nikkola Carmichael,&nbsp;Kimberly Zayhowski,&nbsp;Joselyn Saenz Diaz","doi":"10.1002/jgc4.70204","DOIUrl":"10.1002/jgc4.70204","url":null,"abstract":"<p>In 2025, widespread sociopolitical changes in the United States deeply influenced the experiences of healthcare professionals, including Black, Indigenous, and People of Color (BIPOC) genetic counselors. Cascading harms, including economic instability, healthcare policy changes, and restrictive immigration and reproductive measures, affected marginalized communities across the country, intersecting with existing social determinants of health. This brief report presents qualitative findings from semi-structured interviews conducted with participants who were enrolled in a longitudinal study about the experiences of BIPOC genetic counselors. The 25 participants were recruited from North American genetic counseling programs in 2022 and interviewed regularly throughout their training and after graduating. These results pertain to one specific question participants were asked in November/December 2025 about how sociopolitical policies had impacted them in their personal or professional lives. Using reflexive thematic analysis, we found that financial strains, changes in insurance and telehealth regulations, and anti-immigration enforcement created barriers to patient care. Distrust and privacy concerns regarding genetic data impacted patient care and research projects. These sociopolitical changes and systemic inequities created emotional burdens for participants, negatively impacting their well-being. While complex and systemic in nature, these challenges underscore the need for genetic counselors and genetic counseling organizations to acknowledge the broader context affecting patients and colleagues, promote supportive environments and dialogue, and advocate for equitable policies. This brief report offers timely insight into how 2025 has impacted the lives of BIPOC genetic counselors.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"35 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147635158","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}
引用次数: 0
Quality-of-life after risk-reducing mastectomy in women with increased risk of breast cancer: A longitudinal study 乳腺癌风险增加的女性乳房切除术后的生活质量:一项纵向研究
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2026-04-06 DOI: 10.1002/jgc4.70199
S. Luque, M. E. Olivares, J. M. Brenes, M. Herrera
{"title":"Quality-of-life after risk-reducing mastectomy in women with increased risk of breast cancer: A longitudinal study","authors":"S. Luque,&nbsp;M. E. Olivares,&nbsp;J. M. Brenes,&nbsp;M. Herrera","doi":"10.1002/jgc4.70199","DOIUrl":"10.1002/jgc4.70199","url":null,"abstract":"<p>Risk-reducing mastectomy substantially reduces breast cancer risk in women at increased genetic or familial risk; however, it may have an impact on quality-of-life. The aim of this longitudinal study was to analyze differences in quality-of-life over time in women at increased risk of breast cancer who underwent risk-reducing mastectomy. A total of 55 cisgender women at increased risk of breast cancer, due to <i>BRCA1/2</i> pathogenic variants or a significant family history, participated in the study. Some of them had a prior diagnosis of breast cancer. Quality-of-life was assessed using EORTC Quality-of-Life Questionnaire Core 30 (QLQ-C30) and the Breast Cancer-Specific Module (BR23). Assessments were conducted 15–30 days immediately before and 15–30 days immediately after the risk-reducing mastectomy, and at long-term follow-up. The follow-up assessment ranged from 1 to 15 years post-surgery (mean = 5.24 years). Changes over time were analyzed using repeated measures General Linear Models (GLM). Results indicated decreases in functional scales of quality-of-life and worsening of symptom scales following the risk-reducing mastectomy. However, quality-of-life scores returned to baseline levels at long-term follow-up. Worries regarding future perspective decreased following surgery and continued to improve over time. Although risk-reducing mastectomy was associated with short-term deterioration in selected domains, findings indicate recovery and long-term stabilization of quality-of-life. Additionally, risk-reducing mastectomy appears to alleviate future-oriented cancer concerns. This longitudinal evidence strengthens the basis for anticipatory guidance in genetic counseling and supports more balanced, evidence-informed decision-making.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"35 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147624994","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}
引用次数: 0
Uptake of genetic testing for infants with congenital heart disease: Impact of prenatal versus postnatal cardiovascular genetic counseling 接受先天性心脏病婴儿的基因检测:产前与产后心血管遗传咨询的影响
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2026-04-03 DOI: 10.1002/jgc4.70194
Rhea Rajan, James F. Cnota, Nadine Kasparian, Cara Barnett, Hua He, K. Nicole Weaver, Erin M. Miller, Amy Shikany
{"title":"Uptake of genetic testing for infants with congenital heart disease: Impact of prenatal versus postnatal cardiovascular genetic counseling","authors":"Rhea Rajan,&nbsp;James F. Cnota,&nbsp;Nadine Kasparian,&nbsp;Cara Barnett,&nbsp;Hua He,&nbsp;K. Nicole Weaver,&nbsp;Erin M. Miller,&nbsp;Amy Shikany","doi":"10.1002/jgc4.70194","DOIUrl":"10.1002/jgc4.70194","url":null,"abstract":"<p>Approximately 70% of congenital heart disease (CHD) is diagnosed through prenatal screening, allowing for early assessment and intervention. Expert consensus recommends genetic testing for apparently isolated CHD (iCHD), which can provide valuable insights into potential underlying genetic diagnoses. In the prenatal setting, parents may have access to non-invasive screening options as well as diagnostic testing via amniocentesis. While some families may choose to decline amniocentesis, they may be more receptive to postnatal genetic testing as an alternative. Timing of genetic counseling (prenatal vs. postnatal) can affect parental decision-making and genetic testing uptake. The primary aim of this study was to examine postnatal genetic testing uptake among families of infants with iCHD who received prenatal versus postnatal cardiovascular genetic counseling (CVGCing). We hypothesized that families of infants with iCHD who received prenatal CVGCing would have a higher uptake of postnatal genetic testing than those who received postnatal CVGCing. A retrospective chart review was completed for infants with iCHD admitted to the Cincinnati Children's Hospital Medical Center (CCHMC) Cardiac Intensive Care Unit (CICU) between January 1, 2019, and April 30, 2023. A total of 228 infants received CVGCing from a Cardiovascular Genetic Counselor (CVGC). Seventy-six (33%) families received prenatal CVGCing and 152 (67%) were counseled postnatally. Patients receiving prenatal CVGCing were approximately four times more likely to consent for postnatal genetic testing (OR = 3.88, <i>p</i> = 0.03) than those who received postnatal CVGCing. Genetic testing confirmed a genetic diagnosis in 14% of infants. Positive genetic testing results included both copy number variants (70%) and single-nucleotide variants (30%). In conclusion, families of infants with iCHD who received prenatal CVGCing were significantly more likely to consent for postnatal genetic testing. Patients receiving prenatal CVGCing were able to receive results faster, meet parental goals of earlier genetic counseling access, and increase genetic testing uptake. Although expert consensus statements often recommend chromosomal microarray as a first line of genetic testing for iCHD, the yield reported in our study supports consideration of CHD gene sequencing for all infants with iCHD. Preliminary results suggest prenatal CVGCing for iCHD, with consideration of comprehensive genetic testing including copy number variant analysis and gene sequencing, should be considered standard of care.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"35 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147610293","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}
引用次数: 0
Canadian certification exam pass rates are impacted by genetic counseling program location: A review of Canadian Board of Genetic Counselling data from 2007 to 2025 加拿大认证考试的通过率受到遗传咨询项目地点的影响:2007年至2025年加拿大遗传咨询委员会数据的回顾。
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2026-04-03 DOI: 10.1002/jgc4.70203
Angela Krutish, Rachel Vanneste, the Canadian Board of Genetic Counselling
{"title":"Canadian certification exam pass rates are impacted by genetic counseling program location: A review of Canadian Board of Genetic Counselling data from 2007 to 2025","authors":"Angela Krutish,&nbsp;Rachel Vanneste,&nbsp;the Canadian Board of Genetic Counselling","doi":"10.1002/jgc4.70203","DOIUrl":"10.1002/jgc4.70203","url":null,"abstract":"<p>Despite significant growth of the genetic counseling profession worldwide, there are differences between genetic counseling training programs (GCPs), professional standards, and professional regulation. Certification of genetic counselors (GCs) in Canada was previously managed by the Certification Board of the Canadian Association of Genetic Counsellors and is now the responsibility of the Canadian Board of Genetic Counselling - Conseil Canadien de Conseil Génétique (CBGC). Since 2007, individuals who attended a Master's level GCP, irrespective of location, have been eligible to sit for the Canadian certification exam. However, the CBGC Board of Directors has observed lower exam pass rates for candidates who attended GCPs outside North America compared to candidates who attended GCPs accredited by the Accreditation Council of Genetic Counseling (ACGC). Anonymized line-level data for candidates who first applied to write the Canadian certification exam between 2007 and 2025 were extracted from the CBGC records. Pass rates were significantly higher for first-time test-takers who attended ACGC-accredited GCPs (227/246, 92.3%) than those who attended GCPs outside North America (18/37, 48.6%) (<i>p</i> &lt; 0.001). However, pass rates were not significantly different between candidates who attended an ACGC-accredited GCP in Canada and those who attended an ACGC-accredited GCP in the United States (<i>p</i> = 0.48). A variety of factors, including differences in training program content and developmental endpoints, differences in GC roles and scope, and cultural, religious, and societal influences, may underlie the difference in pass rates observed here. Given its dedication to diversity, equity, inclusion, and justice efforts, as well as development of the genetic counseling profession worldwide, the CBGC will endeavor to develop resources that support exam performance for all candidates, including those who trained at international GCPs. However, the CBGC must balance these efforts with its ultimate purpose to protect the Canadian public by upholding certification standards for Canadian GCs.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"35 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13047467/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147610259","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}
引用次数: 0
A qualitative study of US-based transgender, nonbinary, and gender diverse individuals' perspectives on preconception and prenatal genetic testing for nonmedical sex selection 一项关于美国跨性别、非二元和性别多样化个体对孕前和产前基因检测进行非医学性别选择的观点的定性研究。
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2026-04-03 DOI: 10.1002/jgc4.70201
Madison Chilian, Kimberly Zayhowski, Lex Powers, Kelsey Hazelberg, Hannah Llorin
{"title":"A qualitative study of US-based transgender, nonbinary, and gender diverse individuals' perspectives on preconception and prenatal genetic testing for nonmedical sex selection","authors":"Madison Chilian,&nbsp;Kimberly Zayhowski,&nbsp;Lex Powers,&nbsp;Kelsey Hazelberg,&nbsp;Hannah Llorin","doi":"10.1002/jgc4.70201","DOIUrl":"10.1002/jgc4.70201","url":null,"abstract":"<p>Nonmedical sex selection has become increasingly common due to advancements in genetic testing and increased consumer demand. There is growing concern that the current practices of sex chromosome screening and result disclosure contribute to public misinformation about sex and gender, disproportionately harming the transgender, nonbinary, and gender diverse (TNGD) community. This qualitative study explores United States-based TNGD individuals' perspectives on the use of nonmedical sex selection and identifies recommendations of best practices for healthcare professionals (HCPs) when discussing these genetic tests. Semi-structured interviews were conducted with 13 TNGD individuals. Data were analyzed using reflexive thematic analysis and guided by queer theory. Three themes were developed: (1) “there are probably good reasons and bad reasons”: drawing moral boundaries around nonmedical sex selection while preserving patient autonomy, (2) trapped in rigidity: gender essentialism reinforced by nonmedical sex selection harms TNGD people, and (3) laying the foundation: HCPs' role in patient education. Participants emphasized the responsibility of HCPs to educate patients on the differences between sex chromosomes, sex, and gender, as well as promoting open-ended discussions to encourage critical reflection on the motivations behind nonmedical sex selection. The results of this study illuminate how HCPs, including genetic counselors, and organizations can tailor the protocols and counseling about nonmedical sex selection to facilitate a more ethical decision-making process and foster inclusivity of the TNGD community.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"35 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147610272","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}
引用次数: 0
Exploring parents' experiences with direct-to-consumer genetic testing for their adopted children. 探索父母对他们收养的孩子进行直接面向消费者的基因检测的经验。
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2026-04-01 DOI: 10.1002/jgc4.70210
Tiffany Lepard, Ryan Philobos, Lori Williamson, Alise Blake
{"title":"Exploring parents' experiences with direct-to-consumer genetic testing for their adopted children.","authors":"Tiffany Lepard, Ryan Philobos, Lori Williamson, Alise Blake","doi":"10.1002/jgc4.70210","DOIUrl":"https://doi.org/10.1002/jgc4.70210","url":null,"abstract":"<p><p>Direct-to-consumer genetic testing (DTC-GT) is rising in popularity and may be especially valuable to adoptees, who may be lacking family health history information. Because DTC-GT does not require a healthcare provider to be ordered, parents can conduct DTC-GT on their children, though professional organizations caution against it. The aims of this study were to understand parents' motivations to conduct DTC-GT on their adopted children, explore what they view as the pros and cons of testing, and learn how they use the information gained from testing. Parents who had conducted DTC-GT on their adopted minor child(ren) were eligible to participate. Semi-structured interviews were conducted, recorded, and transcribed. Inductive content analysis was completed using a codebook by three authors separately. A total of 11 interviews were conducted. Participants were motivated to conduct DTC-GT on their children to learn medical and ancestry information and/or to connect with biological relatives. Participants were also aware of the drawbacks of testing, namely privacy concerns. All participants shared the complete results with their children, except for two who withheld some medical information. The reaction to the results by participants and children was generally positive, with many parents recommending DTC-GT to other adoptive families. Most participants found the information gained from testing to be interesting but not useful and therefore made no changes to lifestyle or medical management. The participants in this study indicated that DTC-GT can be used to help adoptees navigate questions about sense of self and did not report DTC-GT directly leading to harm in most cases.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"35 2","pages":"e70210"},"PeriodicalIF":1.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147724200","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}
引用次数: 0
How genetic counselors in North America describe their professional identity 北美的遗传咨询师如何描述他们的职业身份。
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2026-04-01 DOI: 10.1002/jgc4.70198
Lisa Schwartz, Kaye Stenberg, Andrea Casey, Jennifer Fitzpatrick, Mia S. Mackall, McKinsey L. Goodenberger, Aishwarya Arjunan, Sarah Witherington, Isha Kalia, Rachel Mills
{"title":"How genetic counselors in North America describe their professional identity","authors":"Lisa Schwartz,&nbsp;Kaye Stenberg,&nbsp;Andrea Casey,&nbsp;Jennifer Fitzpatrick,&nbsp;Mia S. Mackall,&nbsp;McKinsey L. Goodenberger,&nbsp;Aishwarya Arjunan,&nbsp;Sarah Witherington,&nbsp;Isha Kalia,&nbsp;Rachel Mills","doi":"10.1002/jgc4.70198","DOIUrl":"10.1002/jgc4.70198","url":null,"abstract":"<p>Professional identity is defined as the attitudes, behaviors, values, and experiences by which individuals define themselves in a professional role and is influenced by socialization during training and in the workplace. As professional identity develops and is integrated with one's personal identities, it allows an individual to think, act, and feel like a member of their chosen profession and to develop a sense of meaning, confidence, and satisfaction in their work. Conflicts may arise due to perceived differences between one's professional identity and the collective identity of the profession, resulting in stress, burnout, and attrition, all of which can negatively impact patient care and the collective identity of the genetic counseling profession. Using Social Identity Theory (SIT) as a theoretical framework to develop the semi-structured interview protocol, recorded interviews were conducted with 50 genetic counselors who were purposefully sampled to ensure diversity of personal demographics (gender, race/ethnicity, sexual orientation, disability, and caregiver status), as well as years, settings, and roles in genetic counseling practice. Transcripts were coded and subjected to codebook thematic analysis using NVivo. Genetic counselors described their professional identity in terms of who they are (characteristics and attributes), what they do (actions and skills), and what they have (training and knowledge). The majority of participants had a multidimensional perspective of what it means to be a genetic counselor, noting the transferability of their skills to a broad set of roles and settings, which supported their sense of professional identity, particularly for those who were no longer seeing patients. Yet many expressed tension with the collective identity of the profession. Expanded opportunities for genetic counselors to work in new settings and roles require review and revision of key professional documents to ensure they are reflective of the collective identity of the genetic counseling profession.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"35 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13041187/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147596285","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}
引用次数: 0
Unique social, identity, and community factors impact prophylactic surgery discussions in young adults who are BRCA1, BRCA2, and PALB2 positive. 独特的社会、身份和社区因素影响BRCA1、BRCA2和PALB2阳性年轻人的预防性手术讨论。
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2026-04-01 DOI: 10.1002/jgc4.70211
Alyssa Boye, Julia Wynn, Katherine Foudy, Joanna Urli, Michelle E Florido
{"title":"Unique social, identity, and community factors impact prophylactic surgery discussions in young adults who are BRCA1, BRCA2, and PALB2 positive.","authors":"Alyssa Boye, Julia Wynn, Katherine Foudy, Joanna Urli, Michelle E Florido","doi":"10.1002/jgc4.70211","DOIUrl":"https://doi.org/10.1002/jgc4.70211","url":null,"abstract":"<p><p>The role of a cancer genetic counselor includes communication about emotions, thoughts, and decision-making related to prophylactic surgery. No prior study has fully evaluated the preferences of young adults who are BRCA1, BRCA2 (BRCA1/2), or PALB2 positive and their communication preferences on discussing prophylactic surgery in a genetic counseling session. We addressed this through semi-structured interviews with 13 individuals who were assigned female sex at birth, aged 18-30 during the time of genetic counseling, had seen a genetic counselor in the past 7 years, and tested positive for a BRCA1/2 or PALB2 pathogenic or likely pathogenic variant. Coding by two researchers and reflexive thematic analysis by three researchers was conducted to explore preferences of this population. Five major themes were constructed in analysis: (1) care personalized for life stage and identity; (2) personal and community factors impacting decision-making; (3) communication about gene-positive medical management; (4) healthcare system concerns; and (5) preferences for genetic counselor post-test counseling and follow-up. Young adult participants discussed that life-stage considerations such as body image, sexuality, and childbearing were important factors in their emotions and decision-making around prophylactic surgery, differing from previous literature on older populations. Participants desired more follow-up, better support and education around practical and emotional considerations for prophylactic surgery, and acknowledgment of personal and community factors that impacted them. Genetic counselors can personalize each visit to the patient and their needs by extensively contracting and bringing up topics that may be relevant and adjusting based on their preferences and values.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"35 2","pages":"e70211"},"PeriodicalIF":1.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147724254","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}
引用次数: 0
Navigating uncertainty during non-invasive prenatal testing: Genetic counselors' experiences of supporting autonomous reproductive decision-making. 在非侵入性产前检测中导航不确定性:遗传咨询师支持自主生殖决策的经验。
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2026-04-01 DOI: 10.1002/jgc4.70202
Chanelle Warton, Danya F Vears
{"title":"Navigating uncertainty during non-invasive prenatal testing: Genetic counselors' experiences of supporting autonomous reproductive decision-making.","authors":"Chanelle Warton, Danya F Vears","doi":"10.1002/jgc4.70202","DOIUrl":"10.1002/jgc4.70202","url":null,"abstract":"<p><p>There is limited understanding of how healthcare professionals understand and apply the concept of reproductive autonomy in their clinical practice with non-invasive prenatal testing (NIPT). Existing research indicates potential misalignment between theoretical understandings of reproductive autonomy and its operationalization by healthcare professionals in clinical practice. Despite genetic counselors (GCs) having unique expertise and experience in prenatal genetic counseling, there is a dearth of research regarding their understanding and practices relating to reproductive autonomy. To address this gap, we explored GCs' NIPT clinical practice, particularly focusing on their conceptualization and facilitation of autonomous reproductive decision-making. Semi-structured interviews were undertaken with 23 GCs experienced in providing NIPT in Australia. Data were analyzed using inductive content analysis. GCs viewed their role as facilitating reproductive genetics decision-making and supporting patients to navigate the uncertainty inherent to prenatal screening, including phenotypic uncertainty. Uncertainty was viewed by GCs as an inherent feature of prenatal genetic testing, but not one that was incompatible with reproductive autonomy. Diverse views were expressed regarding the scope of conditions available via NIPT. Cost was viewed as a source of inequity, with all GCs supporting some level of public funding for NIPT.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"35 2","pages":"e70202"},"PeriodicalIF":1.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13088214/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147700676","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}
引用次数: 0
Personalized health predictions challenge existing insurance frameworks: Time to revisit life and disability insurance regulation? 个性化健康预测挑战现有保险框架:是时候重新审视人寿和伤残保险监管了?
IF 1.9 4区 医学
Journal of Genetic Counseling Pub Date : 2026-04-01 DOI: 10.1002/jgc4.70206
Max Rensink, Maartje Schermer, Ineke Bolt
{"title":"Personalized health predictions challenge existing insurance frameworks: Time to revisit life and disability insurance regulation?","authors":"Max Rensink, Maartje Schermer, Ineke Bolt","doi":"10.1002/jgc4.70206","DOIUrl":"10.1002/jgc4.70206","url":null,"abstract":"<p><p>Personalized health predictions are developing rapidly across a wide range of diseases, challenging the existing legal frameworks for life and disability insurance. These frameworks were originally developed with a focus on presymptomatic genetic testing for severe monogenic diseases such as Huntington's disease. The rapid expansion of personalized medicine raises questions about whether existing legal frameworks remain adequate. This paper examines the underlying ethical values of current legal frameworks that rely on financial thresholds to balance stakeholders' interests and explores how the growing availability of personalized predictions may give rise to ethical tensions. We argue that it is important to find a renewed balance between stakeholders' interests, to evaluate whether the concept of genetic exceptionalism is still meaningful in light of personalized predictions, and to consider how legislation can be reformulated to encompass personalized predictions and ensure solidarity. Furthermore, the potential for inaccuracies and misinterpretation of personalized predictions should be addressed. Our analysis highlights several ethical tensions that current legal frameworks may not be well equipped to address as personalized prediction technologies evolve. We therefore conclude that re-evaluating the legal frameworks underpinning life and disability insurance underwriting is both timely and necessary.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"35 2","pages":"e70206"},"PeriodicalIF":1.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13084489/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147693775","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}
引用次数: 0
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