Journal of Genetic Counseling最新文献

{"title":"Prenatal genetic counselors' attitudes, beliefs, and practices with discussing postnatal Duchenne muscular dystrophy treatment options","authors":"Shawna L. Jurlina,&nbsp;Nicholas Gorman,&nbsp;Christina G. S. Palmer,&nbsp;Rebecca LeShay Araujo","doi":"10.1002/jgc4.70127","DOIUrl":"10.1002/jgc4.70127","url":null,"abstract":"<p>Duchenne muscular dystrophy (DMD) is an X-linked genetic condition characterized by progressive muscle degeneration. Recently, several genotype-specific treatment options for DMD have become available. Prenatal genetic counselors may encounter at-risk patients for DMD, through a variety of indications. However, little is known about how prenatal genetic counselors approach conversations about these emerging treatment options. This study aims to explore prenatal genetic counselors' attitudes, beliefs, and practices in discussing postnatal DMD treatment options with their patients. Board-certified genetic counselors providing preconception or prenatal care in the United States were eligible to participate. Individuals were recruited via convenience sampling through two professional genetic counseling organization listservs. Purposive sampling was used to select 12 individuals with diverse experiences and perspectives, who participated in one-on-one, semistructured Zoom interviews. Topics included the practices of prenatal genetic counselors related to DMD using clinical vignettes; DMD treatment knowledge; and attitudes and beliefs about DMD treatments. Data were transcribed, coded, and analyzed using reflexive thematic analysis. Three themes, one with two subthemes, were produced: (1) discussing DMD treatments in the prenatal setting is highly tailored; (2) discussing DMD treatments with prenatal patients is critical to informed decision making, with subthemes (2a) information about DMD treatments should be balanced and accurate, and (2b) multidisciplinary teams, including prenatal genetic counselors, should support patients in navigating DMD treatment discussions; and (3) prenatal genetic counselors need concise and updated resources relating to DMD treatments. These findings indicate that prenatal genetic counselors play an important role in patients' health care teams when considering DMD treatments. They also emphasize the importance of prenatal genetic counselors staying updated with advancements in treatments and communicating information to patients accurately and in a balanced manner. Given the nuanced nature of these discussions, practice guidelines may be needed.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 6","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70127","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145453950","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":"Power of the pedigree: Specialty referrals from a pharmacogenomics clinic","authors":"Elizabeth Fieg,&nbsp;Benjamin Kerman,&nbsp;Samantha Frear,&nbsp;Roseann S. Donnelly","doi":"10.1002/jgc4.70131","DOIUrl":"https://doi.org/10.1002/jgc4.70131","url":null,"abstract":"<p>Pharmacogenomic testing, or genetic testing to inform medication selection and dosing, is now available to patients through various practice models including dedicated pharmacogenomics clinics that may include a genetic counselor as part of the team. Although collecting a family medication history may be part of a pharmacogenomics clinic workflow, collecting a comprehensive family history to uncover disease-related genetic risks is generally not. The purpose of this study was to summarize the number and type of specialty referrals made by a genetic counselor embedded in a pharmacogenomics clinic as a result of collecting a comprehensive family history and conducting a risk assessment. Of the 322 new patient appointments in the Brigham and Women's Hospital Pharmacogenomics Clinic between March 1, 2019 and March 7, 2025, a comprehensive (three-generation) pedigree was collected for 279 patients. A total of 91 unique specialty referrals (82 genetics-related referrals, 9 nongenetics-related referrals) were offered to 85 of the 279 patients with a comprehensive pedigree collected (30%). The majority of referrals made were for cancer genetics (69%; <i>n</i> = 63), and of these patients, 83% (<i>n</i> = 52) were referred based only on family history information, with no personal history that would have prompted a referral to cancer genetics. The high volume of specialty referrals made within a pharmacogenomics clinic based on family history highlights the value of having a genetic counselor collect a comprehensive pedigree as standard practice in any genetics-based encounter.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 6","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145429357","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":"Views of genetic health professionals, patients, and next of kin on retesting and recontact with results from updated genetic testing","authors":"Alison Luk Young,&nbsp;Catherine Speechly,&nbsp;April Morrow,&nbsp;Kate Ross,&nbsp;Chelsea Murphy,&nbsp;Nicola Poplawski,&nbsp;Lesley Andrews,&nbsp;Rebecca Harris,&nbsp;Judy Kirk,&nbsp;Katherine Tucker,&nbsp;Chris Jacobs,&nbsp;Tu Nguyen-Dumont,&nbsp;Melissa C. Southey,&nbsp;Amanda M. Willis","doi":"10.1002/jgc4.70128","DOIUrl":"https://doi.org/10.1002/jgc4.70128","url":null,"abstract":"<p>Retesting individuals who previously had uninformative <i>BRCA1/2</i> genetic testing can identify new clinically actionable information. However, this practice is limited due to concerns regarding how to retest and recontact ethically with limited resources. This qualitative study explored the perspectives of genetic health professionals (GHPs), patients and next of kin (NOK) regarding retesting and recontact with new results. Participants were involved in an Australia-wide study, which retested patients under a waiver of consent and recontacted those with a clinically actionable variant. Semi-structured interviews with 14 GHPs and 30 patients/NOK regarding their experiences were analyzed using reflexive thematic analysis. Views of GHPs and recontacted individuals were explored and compared, focusing on practice and process implications. Overall, retesting and recontact with new genetic information were considered <i>unconventional but acceptable</i>. The need to <i>balance desirability with feasibility</i> was recognized, although diverging views were evident between GHPs and patients/NOK regarding the scope of retesting, responsibilities, and processes. Providing opportunities to decline new information and timely appointments for new results were important <i>strategies to cushion the impact of recontact</i> for patients. Recontact with support was valued, but barriers remain, including limited resources and unclear responsibilities. These findings provide valuable patient, NOK, and GHP voices to inform best practice recontact within resource-limited health systems.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 6","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145429534","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":"Narratives before numbers: Reimagining conversations about race, ethnicity, and ancestry information in genetic counseling practice","authors":"Emily Peugh,&nbsp;Sara Chandros Hull,&nbsp;Leila Jamal","doi":"10.1002/jgc4.70124","DOIUrl":"https://doi.org/10.1002/jgc4.70124","url":null,"abstract":"<p>As genomic testing becomes more common, it is essential to re-examine practical and ethical arguments for and against eliciting race, ethnicity, and ancestry (REA) information from patients as a default practice in genetic counseling. In this article, we evaluate current and historical reasons for using REA information in clinical genetics encounters. We argue that in many, if not most, cases, the value of this practice for patient risk assessment and the establishment of test eligibility is questionable. This does not mean we do not see any value in the practice of discussing REA at all. Rather, we propose that discussions about REA should be patient-led and relevant to discussions about their experiences, values, and goals. To facilitate this change, we offer some practical reasons for limiting the default practice of collecting REA information in genetic counseling. Additionally, we evaluate the ethical acceptability of this practice, anchoring our ethical analysis in three considerations: (1) the impact of the use of REA information in determining eligibility for genetic testing and assessing genetic risk; (2) the influence of inequitable genomic database representation; and (3) the effect of discussing REA on the therapeutic relationship. Our analysis of these considerations leads us to argue for a patient-centered, narrative framework that treats the collection of REA information as a way of encouraging patients to articulate the relevance of these identities to their counseling goals, if and in which context they choose.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 6","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70124","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145429493","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":"Patients' experiences using an educational virtual assistant for review of reproductive genetic screening results","authors":"Sarah Yarnall,&nbsp;Jessica L. Saben,&nbsp;Nicholas Sun,&nbsp;Melissa Maisenbacher,&nbsp;Talia Shirazi,&nbsp;Shama Huda,&nbsp;Dana Falcone,&nbsp;Sheetal Parmar","doi":"10.1002/jgc4.70125","DOIUrl":"10.1002/jgc4.70125","url":null,"abstract":"<p>This observational study aimed to capture patients' experiences after reviewing carrier screening (CS) and/or noninvasive prenatal cell-free DNA testing (NIPT) results with Natera's Educational Virtual Assistant (NEVA). Patients, partners of patients, or other individuals designated to review the patients' results were included if they consented to follow-up contact. Eligible individuals were sent a text message or e-mail requesting that they complete a survey. The survey collected demographic data and patients' experiences with NEVA across five domains (overall satisfaction, ease of use, overall sentiments, knowledge and perceived understanding, and preferences for results delivery and education) using a combination of multiple-choice, ranking, and Likert-scale questions. Comparisons were made across group proportions for survey responses. Ordinal and logistic regression models were constructed to examine the relationships while adjusting for previous knowledge of test results. Among 1133 survey respondents, 193 had negative CS, 79 had positive CS, 845 had low-risk NIPT, and 16 had high-risk NIPT results. Across all groups, 79.1% reported being satisfied with their experience, 90.5% indicated that NEVA was easy to use, 71.8% reported favorable sentiments regarding their interaction with NEVA, 77.8% correctly reported knowledge of their results, and 86.4% indicated perceived understanding of their results. The most preferred method for reviewing results was using a virtual assistant across the negative CS, positive CS, and low-risk NIPT cohorts; participants with high-risk NIPT preferred talking to a genetic counselor. Participants with low-risk NIPT had greater odds of reporting overall satisfaction (OR: 3.98, <i>p</i> &lt; 0.001) and favorable sentiments (OR: 9.49, <i>p</i> &lt; 0.001) compared to participants with high-risk NIPT. No differences were found among participants who received CS. Survey responses demonstrate the feasibility and utility of NEVA for reproductive genetic testing results delivery and suggest some differences in acceptance for patients receiving NIPT results.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12560615/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145380069","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":"Patients' and healthcare professionals' experiences with implementing the Rosa chatbot in mainstream genetic testing for hereditary breast and ovarian cancer","authors":"Elen Siglen,&nbsp;Hildegunn Høberg Vetti,&nbsp;Anita Lyssand,&nbsp;Tone Dahl-Michelsen,&nbsp;Cathrine Bjorvatn","doi":"10.1002/jgc4.70119","DOIUrl":"10.1002/jgc4.70119","url":null,"abstract":"<p>Mainstream genetic testing (MGT) refers to genetic testing conducted at the time of a cancer diagnosis without undergoing comprehensive genetic counseling. MGT has been the standard of care for patients with breast or ovarian cancer in Norway for several years. The aim of this study is to explore how newly diagnosed patients with breast or ovarian cancer and healthcare professionals' (HCPs), experience the use of the Rosa chatbot in mainstream genetic testing (MGT) and explore potential barriers to the implementation of chatbots in MGT. We conducted a qualitative study using semi-structured interview guides with selected patients and HCPs. The interviews were done either: in-person, over the digital platform Teams, or over the telephone, depending on the participants' wishes. We chose the Stepwise-Deductive Inductive approach for analyzing the transcripts. Both patients and HCPs viewed the Rosa chatbot positively, describing it as user-friendly, useful, accessible, safe, professional, and trustworthy. They reported that the volume and complexity of information during MGT could be overwhelming and viewed the chatbot as a trustworthy resource for patients to revisit at their own pace, supporting informed decision-making after a positive genetic test result. However, concerns were raised about potential misunderstandings, the impersonal nature of digital communication, and the risk of reduced patient–provider interaction, which together were perceived as an emotional barrier to integrating chatbots into genetic counseling practice.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/jgc4.70119","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145350114","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":"Bringing Genetics to Mental Health: Integrating Genetic Counseling into a Mental Health Program at Monash Health, Australia","authors":"Joanne Isbister,&nbsp;Anita Gorrie,&nbsp;Lia Laios,&nbsp;Joshua Schultz,&nbsp;Megan Galbally","doi":"10.1002/jgc4.70123","DOIUrl":"10.1002/jgc4.70123","url":null,"abstract":"<p>Psychiatric disorders such as anxiety, bipolar disorder, depression, substance use disorder, and schizophrenia are highly heritable, yet access to genetic counseling for psychiatric disorders remains limited. Despite evidence supporting its benefits, systemic barriers in Australia limit access to this service. To address this gap, a genetic counselor was embedded within the Monash Mental Health Program -marking the first initiative of its kind in Australia. This initiative represents a novel, collaborative model that improves access to genetic services and fosters interdisciplinary partnerships between genetic counselors and mental health professionals. By embedding the service within a public health context, it also addresses critical equity issues in access to genomic healthcare. This paper outlines the structure, implementation, and function of the service, demonstrating its adaptability across a range of clinical areas. Initially focused on women of reproductive age with psychiatric histories, the service rapidly expanded to include dual disability, inpatient adult psychiatry, and child and adolescent mental health. It proved particularly valuable in high-risk perinatal cases, where psychiatric conditions intersected with fetal anomalies. Genetic counseling facilitated timely interventions, guided genetic testing where appropriate, and supported complex case management. By identifying key enablers and challenges, this paper offers practical insights for developing similar interdisciplinary services. It contributes unique evidence from the Australian context and provides a foundation for future research, policy, and service planning in psychiatric genetic counseling. This innovative, scalable model demonstrates how genetic counseling can be effectively integrated into mental health care, improving outcomes for individuals with psychiatric disorders and their families.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145338174","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":"Psychosocial predictors of hereditary cancer genetic testing motivation in untested individuals","authors":"Sarah Austin,&nbsp;Emerson Delacroix,&nbsp;John D. Rice,&nbsp;Erika Koeppe,&nbsp;Elena M. Stoffel,&nbsp;Jennifer J. Griggs,&nbsp;Kenneth Resnicow","doi":"10.1002/jgc4.70122","DOIUrl":"10.1002/jgc4.70122","url":null,"abstract":"<p>Genetic testing for hereditary cancer syndromes can provide lifesaving information allowing for individualized cancer screening, prevention, and treatment. A broader understanding of how psychosocial factors impact motivation to undergo genetic testing is needed to improve uptake among individuals who would benefit from testing. Adults (≥18 years) who met criteria for genetic testing based on a self-reported family cancer history and had not previously completed testing were invited to complete a survey (<i>n</i> = 799) assessing psychosocial factors including barriers to genetic testing, healthcare distrust, perceived self-efficacy, clinician autonomy support, and genetic testing knowledge. Associations between these psychosocial factors and testing motivation were examined first by correlation followed by multivariable linear regression. Self-efficacy had a significant positive correlation with genetic testing motivation, while barriers and healthcare distrust were negatively correlated with motivation. In an adjusted multivariable regression model, higher self-efficacy was associated with higher motivation while higher barriers and healthcare distrust were negatively associated with genetic testing motivation. Individuals of older age (51+), non-White race, and lower perceived socioeconomic status reported higher mean motivation scores. The negative association between distrust and barriers with genetic testing intention may be a potential target for tailored interventions for genetic testing.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12528973/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145304429","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":"Patient-initiated lifestyle changes following receipt of genetic test results in a predominantly marginalized population","authors":"Marian J. Gilmore,&nbsp;Hannah E. Frawley,&nbsp;Elizabeth Shuster,&nbsp;Joanna E. Bulkley,&nbsp;Kristin R. Muessig,&nbsp;Benjamin S. Wilfond,&nbsp;Michael C. Leo,&nbsp;Jessica Ezzell Hunter","doi":"10.1002/jgc4.70112","DOIUrl":"10.1002/jgc4.70112","url":null,"abstract":"<p>Genetic testing for cancer predisposition and other actionable findings aims to improve health outcomes by informing patients and practitioners about genetic disease risks and guiding decisions on risk-reducing actions. This study explored patient-initiated lifestyle changes following genetic testing in a study population who predominantly screened positive on a hereditary risk assessment cancer tool prior to genetic testing, with a large proportion of individuals from marginalized groups with historically limited access to genetic services. A survey was administered to 761 study participants 6 months after result disclosure to capture initiation of lifestyle changes (diet, exercise, smoking cessation). Initiation of changes was assessed for association with patient-specific factors. Five hundred and fifty-six individuals completed surveys; 75% met criteria for belonging to a marginalized group. Among respondents, 20.5% reported at least one lifestyle change; primarily in diet (17.1%) and exercise (13.7%). Making a lifestyle change was associated with having a personal cancer history and higher perceived personal utility but not genetic finding, being a member of a marginalized group, or gender. Most participants with a personal cancer history did not receive a positive finding in a cancer risk gene, potentially motivating them to make lifestyle changes compared with participants without a personal cancer history.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145304381","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":"Implementing genetic screening into primary care for medically actionable conditions: Insights from a precision health pilot program","authors":"Maggie A. Bowler,&nbsp;Julie Zenger Hain,&nbsp;Lauren N. Jackson,&nbsp;Katelyn N. Roberts,&nbsp;Stephen A. Williams,&nbsp;Ramin Homayouni","doi":"10.1002/jgc4.70118","DOIUrl":"10.1002/jgc4.70118","url":null,"abstract":"<p>Population-wide genomic screening for medically actionable conditions has the potential to expand opportunities for early intervention and personalized healthcare to a broader group of people than traditional indication-based testing. Current clinical practices and operations present many barriers to the implementation of genetic screening in primary care settings. This study aimed to assess the reach, implementation, and effectiveness of a Precision Health Pilot Initiative (PHPI) at a large urban healthcare system in Southeast Michigan. Patients aged 18 or older at six preselected primary care sites were invited through the electronic medical record (EMR). Participants were screened at no cost for medically actionable conditions using the Invitae Genetic Health Screen gene panel (147–167 genes) associated with hereditary cancer, cardiovascular disease, metabolic disorders, and other medically actionable conditions. The PHPI genetic counselors (GCs) uploaded the results into the EMR, informed the primary care providers (PCPs) of positive results, and disclosed results to all participants via telephone. Among the 13,814 individuals who were electronically invited to participate in the PHPI, 42.9% opened the MyChart invitation within 48 h and 6.1% consented to participate. Individuals who completed genetic screening were predominantly female (60.8%), White (77.7%), with an average age of 54.7 (±14.7 SD). Implementation improvements, including a shift from paper-based to electronic consent, significantly reduced the time from invitation to consent (from 47.9 to 14.5 days; <i>p</i> &lt; 0.0001). Among 858 individuals who completed testing, 50.1% had clinically significant findings, with 18.6% of individuals having pathogenic/likely pathogenic (P/LP) variants indicating personal health risk, and 42.2% identified as carriers. The majority of findings indicating personal risk were in genes associated with thrombophilias and hereditary cancer syndromes. The PHPI demonstrated the potential of population-wide genomic screening to identify medically actionable conditions and advance preventive healthcare. However, challenges remain regarding equity, accessibility, and resource allocation. Further research and collaboration are needed to refine screening protocols and ensure equitable implementation.</p>","PeriodicalId":54829,"journal":{"name":"Journal of Genetic Counseling","volume":"34 5","pages":""},"PeriodicalIF":1.9,"publicationDate":"2025-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145281948","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}