Journal of Genetic Counseling最新文献

{"title":"Understanding and issues related to next-generation sequencing among educated laypersons in India","authors":"Arya Shambhavi,&nbsp;Amita Moirangthem,&nbsp;Prabhaker Mishra,&nbsp;Shubha R. Phadke","doi":"10.1002/jgc4.2008","DOIUrl":"10.1002/jgc4.2008","url":null,"abstract":"<p>Next Generation Sequencing (NGS) is being widely used for preconception carrier screening of couples, newborn screening, and personalized and preventive treatments, although its knowledge is still limited in laypersons. In this study, we have assessed the understanding, attitudes, and concerns related to NGS in 103 educated laypersons in India. The study participants were contacted by a combination of methods, including offline and online platforms. An information sheet was provided to them detailing the basics of DNA and the use of NGS in identifying genetic disorders with the possible types of results. Those participants who answered all the questions were included in the study. The participants in this study demonstrated a good general understanding of the information sheet (80.3% average correct response). We also observed that the majority wished to know the results of secondary findings related to actionable and unactionable conditions. Most of them wanted to sequence all their genes in their body, given a chance, and they had a general willingness to share the results with their relatives. The majority also felt that they would be better prepared mentally if they had a genetic diagnosis and would take necessary health measures as directed by their physician. About half of them felt that knowing the result may cause them distress. About half of them also wished to undergo prenatal testing based on an uncertain result, which stresses the need for better education about the limitations of NGS.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.2008","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143665393","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":"Experiences and expectations of hereditary colorectal cancer patients during the post-genetic test period","authors":"Emily Stuebing,&nbsp;Jessica Jonas,&nbsp;Shelley McCormick,&nbsp;Carly Grant,&nbsp;Margaret Emmet","doi":"10.1002/jgc4.2012","DOIUrl":"10.1002/jgc4.2012","url":null,"abstract":"<p>Individuals with inherited colorectal cancer (CRC) risk often work with genetic counselors (GCs) who traditionally meet with them prior to genetic testing and then disclose genetic test (GT) results. After results disclosure, many GCs do not typically provide long-term follow-up, and as a result, there is little in the literature regarding how GCs can meet the needs of patients in the post-test period. This mixed methods study aimed to explore the experiences of patients with hereditary CRC syndromes in the post-test period with a focus on identifying areas for improvement following a positive GT result. Participants completed an online survey (<i>N</i> = 17) and optional semi-structured interview (<i>N</i> = 10) focused on patient experiences with GCs, resources received following a positive GT result, degree of perceived support from their GC, and psychosocial considerations associated with GT. The survey data was analyzed using Microsoft Excel to generate descriptive statistics, and the interviews were analyzed using reflexive thematic analysis. Survey results indicated that participants would like an increase in contact with their GC in the post-test period and prefer follow-up visits to be scheduled in advance. Interview results revealed several themes including: meaning making, emotional reaction, impact of GC, recommendations for GC, and perceived health literacy. The data demonstrates a need to reconsider the effectiveness and structure of clinical follow-up after a positive GT disclosure. In the post-test period, GCs should attempt to meet needs specific to the patient in addition to providing follow-up tailored to a patient's emotional state, information needs, and life circumstances. Further needs assessment with greater focus on diverse groups and a larger cohort may be necessary.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.2012","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143665387","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":"Generative AI and the profession of genetic counseling","authors":"Leo Meekins-Doherty,&nbsp;Lisa Dive,&nbsp;Alison McEwen,&nbsp;Adrienne Sexton","doi":"10.1002/jgc4.2009","DOIUrl":"10.1002/jgc4.2009","url":null,"abstract":"<p>The development of artificial intelligence (AI) including generative large language models (LLMs) and software like ChatGPT is likely to significantly influence existing workforces. Genetic counseling has been identified as a profession likely impacted by advancements of LLMs in natural language processing tasks. It is important therefore to understand LLMs before using them in practice. We provide an overview of LLMs and the strengths, biases, risks, and potential uses in genetic counseling. We discuss how these models show promise for supporting certain tasks in genetic healthcare (e.g., letter writing, triage, intake or follow-up, decision aids, chatbots, and simulations). However, any interaction between LLMs and clients or clients' confidential information raises significant ethical, regulatory, and privacy concerns that are yet to be addressed. While LLMs may excel in information processing and are making unprecedented strides with regard to communication, we highlight aspects of psychotherapeutic encounters that require human interaction. Although LLMs/chatbots can provide information relevant to genetic tests and can mimic empathy, we postulate that these interactions cannot adequately replace the personalized application of counseling theory, skills, knowledge, and decision-making provided by a human genetic counselor. We propose that LLMs show great potential for use in aspects of genetic counseling practice. A continued, strengthened philosophical focus on the counseling process and psychotherapeutic goals of practice will be an essential aspect of genetic counselors' roles in the era of AI-supported counseling. Ongoing attention to the deployment of AI in clinical contexts and the relational elements of care will help ensure quality care for clients.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143665388","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":"Low frequency of structured documentation for cancer genetic testing in a large electronic health record dataset: A brief report using All of Us Research data","authors":"Meghan L. Underhill,&nbsp;Xintong Li,&nbsp;Jaimin Shah,&nbsp;Caitlin Dreisbach","doi":"10.1002/jgc4.2011","DOIUrl":"10.1002/jgc4.2011","url":null,"abstract":"<p>Annually, over two million individuals in the United States are diagnosed with cancer, with 10–20% attributed to hereditary cancer syndromes. Genetic testing for pathogenic variants is a standard component of cancer care guided by tumor pathology and family history. Despite this, access to and completion of cancer genetic testing remains suboptimal. This study aims to understand the rates and factors associated with genetic testing completion among individuals with cancer. Utilizing data from the All of Us Research Program, which includes over one million Americans, we examined the documentation of genetic testing in electronic health records. Participants diagnosed with breast, ovarian, colon, endometrial, or pancreatic cancer were selected using the All of Us Workbench cohort builder tool. Descriptive and univariate analyses were conducted within the integrated Jupyter Notebook. Out of 60,135 individuals with a diagnostic code for the eligible cancers, over 73% reported a family history of cancer. However, only 281 individuals had a diagnosis or procedural code for a cancer genetic test, with 82% completing the test post-cancer diagnosis. While the All of Us data is a robust resource for large-scale research, challenges in data acquisition and interpretation arise due to the reporting structure of genetic findings in most data sources, such as electronic health records. To effectively utilize large-scale data for addressing issues in cancer genetic testing, shared data elements and standardized documentation are essential.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11923727/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143665390","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":"Reply to Rathbun and Paulyson Nuñez","authors":"Kathryn Steinhaus French,&nbsp;Robin L. Bennett,&nbsp;Robert G. Resta","doi":"10.1002/jgc4.2022","DOIUrl":"10.1002/jgc4.2022","url":null,"abstract":"<p>We thank Rathbun and Paulyson Nuñez for alerting us that we inaccurately and interchangeably used the terms “surrogate” and “gestational carrier” in our previous publication (Bennett et al., <span>2022</span>, figure 5 examples 3 and 4). As they point out, a “gestational carrier” is defined as a person who carries a pregnancy resulting from the transfer of a preimplantation embryo but who has no genetic relationship with the embryo. The term “surrogate” is defined as a person who donates eggs <i>and</i> carries the pregnancy for another. We also think their suggestion for placing “G” within the symbol of the gestational carrier can clarify some reproductively complex pedigrees. These changes have been included in a Correction in this issue of the Journal.</p><p>The pedigree's utility lies in its simplicity and thus recommends using as few abbreviations and symbols as possible. Therefore, we think that placing an “S” inside a symbol is not necessary. A surrogate should be apparent in the pedigree without using the letter “S.” Placing a “D” in the donor's symbol with the pregnancy directly beneath the symbol de facto indicates a surrogate pregnancy. However, in Rathbun and Paulyson Nuñez's examples 4A and 4B, since there is no “D” (or “S”) it is unclear if the pregnancy was conceived using a donor, or if there is an out-of-relationship pregnancy occurring.</p><p>Regarding the symbols attached to their revision request, examples 1A–1F, 2, and 5 are consistent with the nomenclature presented in our 2022 article. Regarding their example 5 and figure 5 example 5 from our 2022 article, we now recommend removing the “D” from the circle on the left, since this is an intended parent and not an egg donor. In addition, adding a “G” to the individual who is carrying the pregnancy would clarify that this person is a gestational carrier and did not contribute egg(s).</p><p>We disagree with Rathbun and Paulyson Nuñez's recommendation to introduce the term “Embryo Adoption” (their example 1G), because this may imply personhood of the embryo. As stated in the 2023 report from the Ethics Committee of the American Society for Reproductive Medicine (<span>2023</span>), the term “adoption” for embryos should be avoided. We suggest that the National Society of Genetic Counselors Assisted Reproductive Technology Special Interest Group continue to be consulted so that appropriate nomenclature reflecting current reproductive practices and terminology be addressed in future iterations of the Recommended Standardized Pedigree Nomenclature.</p><p>All authors contributed to the reply.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11926485/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143671599","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":"Navigating sexual orientation and gender identity data privacy concerns in United States genetics practices","authors":"Kimberly Zayhowski,&nbsp;Sarah Roth,&nbsp;M. J. Westerfield,&nbsp;Makenna A. Martin,&nbsp;Kai Blumen,&nbsp;Harris T. Bland,&nbsp;Shelly W. McQuaid,&nbsp;Kathleen F. Mittendorf","doi":"10.1002/jgc4.70008","DOIUrl":"https://doi.org/10.1002/jgc4.70008","url":null,"abstract":"&lt;p&gt;Recent federal efforts, such as those by the Centers for Medicare &amp; Medicaid Services, have expanded sexual orientation and gender identity (SOGI) data collection to improve healthcare equity, and several states mandate regular SOGI data collection in healthcare (examples in Hunter, &lt;span&gt;2021&lt;/span&gt;; Oregon Health Authority, &lt;span&gt;2023&lt;/span&gt;; Tsai, &lt;span&gt;2023&lt;/span&gt;). Best practice recommendations in genetics healthcare also encourage SOGI data collection (Bland et al., &lt;span&gt;2024&lt;/span&gt;; Jamal et al., &lt;span&gt;2024&lt;/span&gt;). SOGI data allow the provision of accurate, culturally responsive genetics care. For example, healthcare professionals' (HCP) knowledge of patients' gender-affirming care facilitates accurate cancer risk assessments and management (Cortina et al., &lt;span&gt;2024&lt;/span&gt;; Roth et al., &lt;span&gt;2024&lt;/span&gt;; von Vaupel-Klein &amp; Walsh, &lt;span&gt;2021&lt;/span&gt;). Moreover, HCPs respecting patients' identities and family structures promotes trust and psychological safety (Call et al., &lt;span&gt;2021&lt;/span&gt;; Huser et al., &lt;span&gt;2022&lt;/span&gt;; McCann &amp; Brown, &lt;span&gt;2018&lt;/span&gt;; Roth et al., &lt;span&gt;2024&lt;/span&gt;).&lt;/p&gt;&lt;p&gt;However, as we enter the second Trump administration, SOGI data documentation has concerning implications in the United States socio-political landscape. The previous Trump administration enacted overtly anti-LGBTQ+ (lesbian, gay, bisexual, transgender, queer/questioning, etc.) policies, including banning transgender and gender diverse (TGD) individuals from military service, attempting to define gender strictly based on sex assigned at birth, and rolling back LGBTQ+ patient protections granted during the Obama administration (Green et al., &lt;span&gt;2018&lt;/span&gt;; Memorandum on Military Service by Transgender Individuals, &lt;span&gt;2017&lt;/span&gt;; Nondiscrimination in Health and Health Education Programs or Activities, Delegation of Authority, 45 CFR 92, &lt;span&gt;2020&lt;/span&gt;). Despite re-expansion of LBGTQ+ federal legislative protections under the Biden administration, far-right anti-LGBTQ+ legislation has increased at the state level (American Civil Liberties Union, &lt;span&gt;2024&lt;/span&gt;; Restar et al., &lt;span&gt;2024&lt;/span&gt;). The 2024 Trump campaign and those of allied Congressional candidates promised additional anti-TGD policies, with Republicans spending over $222 million dollars on anti-TGD and anti-LGBTQ advertisements during this time (Simmons-Duffin, &lt;span&gt;2024&lt;/span&gt;). The Trump administration is expected to prioritize policies targeting TGD individuals early in its tenure, as highlighted in its “Agenda 47” platform, with points including cutting funding to schools teaching “radical gender ideology” and barring “men from women's spaces” (Trump, &lt;span&gt;n.d.&lt;/span&gt;). He was recently quoted saying, “It will be the policy of the United States that there are only two genders, male and female” (Monteil, &lt;span&gt;2024&lt;/span&gt;). An upcoming Supreme Court decision (United States v. Skrmetti, Docket No. 23–477, &lt;span&gt;2024–2025&lt;/span&gt;) will decide whether st","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70008","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143571214","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic testing for children at risk to be hemophilia carriers","authors":"Kristin N. Maher,&nbsp;Katie Bergstrom","doi":"10.1002/jgc4.2024","DOIUrl":"https://doi.org/10.1002/jgc4.2024","url":null,"abstract":"<p>Carriers for hemophilia are at risk for bleeding despite normal or mildly reduced factor 8 or factor 9 activity levels. Genetic testing is necessary to determine carrier status in those at risk and early identification of carriers can inform their bleeding risk. The aims of this single-center retrospective study were to determine the uptake of genetic testing in children at risk to be hemophilia carriers and identify barriers to completion of testing. We identified 64 unique at-risk children assigned female sex at birth under 18 years old, with at least one caregiver participating in a visit between June 2019 and July 2023 with a genetic counselor with expertise in hemophilia. Of all those at risk, 27% (17/64) had undergone genetic testing prior to having genetic counseling at our center, at a median age of 5 years. Of those who had not yet had genetic testing (47/64): insurance prior authorization was initiated for 49% (23/47), testing was completed for 28% (13/47) at a median age of 11 years, and factor activity levels were known or drawn after the visit for 36% (17/47). The primary reason (14/24, 58%) for not initiating insurance prior authorization was not having a known family variant. Because carrier testing for X-linked disorders standardly involves targeted family variant testing rather than full gene testing, increasing the accessibility of carrier testing depends on increasing the accessibility and uptake of genetic testing in affected family members, usually individuals assigned male sex at birth, with a diagnosis of hemophilia. The impact of the decision to pursue genetic testing on current or future family members at risk to be carriers could be included in counseling discussions with individuals with hemophilia and their families.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143565238","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":"Revision request to the standardized pedigree nomenclature regarding surrogacy versus gestational carriers and suggestion for new nomenclature pertaining to embryo adoption","authors":"Colton Rathbun,&nbsp;Kristin Paulyson Nuñez","doi":"10.1002/jgc4.2021","DOIUrl":"https://doi.org/10.1002/jgc4.2021","url":null,"abstract":"","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 2","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143565237","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":"Supervision for genetic counselors: The role of career-long supervision to develop resilient practitioners","authors":"Alison McEwen,&nbsp;Allyson Davys,&nbsp;Jon Weil","doi":"10.1002/jgc4.70014","DOIUrl":"https://doi.org/10.1002/jgc4.70014","url":null,"abstract":"<p>Supervision is a professional activity that provides practitioners with opportunities to reflect on, integrate and learn from work experiences, build resilience, and develop and review their professional identity through reflective conversations with a supervisor and/or peers. Supervision involves a contractual agreement between a supervisor and supervisee (practitioner), that recognizes the accountability of the supervision process to professional and organizational standards and protocols. Incorporating supervision into practice for genetic counselors at all career stages provides a way to develop and strengthen competence and practice and support genetic counselor well-being and client safety. Evidence also suggests that active engagement with effective professional supervision reduces the likelihood of burnout in healthcare workers. Genetic counselors in some parts of the world, including Australia, New Zealand, and the United Kingdom, participate in career-long supervision as a requirement of certification and registration. As the genetic counseling profession expands and diversifies, individuals and professional societies are encouraged to embed the practice of supervision beyond graduate training, establishing a professional culture that values career-long facilitated reflection and learning. We propose the establishment of a global genetic counseling supervision community of practice for genetic counselors interested in developing supervision practices and sharing resources.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70014","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143455809","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A heartfelt thank you to the 2024 Journal of Genetic Counseling reviewers","authors":"","doi":"10.1002/jgc4.70023","DOIUrl":"https://doi.org/10.1002/jgc4.70023","url":null,"abstract":"","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143455792","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}