Journal of Community Genetics最新文献

Experience of people with Biochemical Genetic Disorders and their families accessing Genetic Counselling and Genetic Testing in the Irish Republic.

IF 1.5

Journal of Community Genetics Pub Date : 2025-04-02 DOI: 10.1007/s12687-025-00791-6

Arnott C, Ward Aj, Lambert Dm, Butterly D, McGrath V, Lynch Sa, O 'Byrne Jj

{"title":"Experience of people with Biochemical Genetic Disorders and their families accessing Genetic Counselling and Genetic Testing in the Irish Republic.","authors":"Arnott C, Ward Aj, Lambert Dm, Butterly D, McGrath V, Lynch Sa, O 'Byrne Jj","doi":"10.1007/s12687-025-00791-6","DOIUrl":"https://doi.org/10.1007/s12687-025-00791-6","url":null,"abstract":"Background: National and international reports recommend that genetic counselling should be made available to parents of children living with inherited rare diseases; and to patients themselves upon turning 16-18 years old. Long wait times of up to two years for genetic counselling through Children's Health Ireland contributed to a lack of accessibility for adult patients with inherited metabolic disorders (IMDs). At the time of the study, the National Centre for Inherited Metabolic Disorders (NCIMD) Mater, which takes care of ~ 1400 adult patients with genetic disorders primarily affecting biochemical pathways, did not have direct access to a genetic counsellor.Objectives and methods: An online survey was conducted to investigate the genetic testing and counselling experiences of adult patients with rare IMDs and their families within the Republic of Ireland.Results: The NCIMD-Mater survey highlighted a lack of patient knowledge of and access to genetic counselling services; with some patients unaware of and others incorrectly understanding the role of genetic counselling. Most patients who underwent genetic testing were tested by a non-genetic healthcare professional. Satisfaction levels of genetic counselling services were mixed with some patients reporting delaying personal life and family plans due to wait times for genetic counselling.Conclusion: This study highlights deficiencies in the genetic testing and counselling experience of Irish IMD patients. Embedding genetic counselling into multidisciplinary IMD teams would increase access to genetics education for patients and families and improve the clinical service. This study may be utilized to measure the impact of integrating genetic counsellors into NCIMD-Mater.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143774656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Albinism research in a Southern African setting: unique findings.

IF 1.5

Journal of Community Genetics Pub Date : 2025-04-01 Epub Date: 2025-03-26 DOI: 10.1007/s12687-025-00786-3

Jennifer G R Kromberg, Robyn A Kerr

{"title":"Albinism research in a Southern African setting: unique findings.","authors":"Jennifer G R Kromberg, Robyn A Kerr","doi":"10.1007/s12687-025-00786-3","DOIUrl":"10.1007/s12687-025-00786-3","url":null,"abstract":"Research on oculocutaneous albinism (OCA) in the black African population has been ongoing for 52 years (1971-2023) in the Division of Human Genetics, University of the Witwatersrand, Johannesburg, South Africa. The aim of the present study was to review all the relevant published articles and focus on selected articles with unique findings. The results showed that unique findings were reported in psychosocial, cultural, epidemiological, clinical and molecular fields of study. The local prevalence of albinism was found to be 1 in 3900, higher than that reported in many other countries, although a worldwide review on prevalence showed that only 26/193 (13%) countries had published figures; the commonest types of OCA found were OCA2 and then OCA3; the high rate of skin cancer was documented; and the natural history of OCA described. Molecular studies showed that the 2.7 kb deletion mutation in the OCA2 gene is the common mutation in OCA2 locally, and further identified unique mutations in TYRP1 causing rufous albinism (OCA3) in this population. An early study found that after the birth of a child with OCA maternal-infant bonding was delayed, and only established some months later. Further research revealed that superstitions and myths surrounded the birth and the death of a person with OCA, and the belief that powerful medicines could be made from body parts, was very disturbing. Genetic causes of OCA were poorly understood by affected individuals, their relatives and communities, and genetic counselling is essential. In summary, over 30 studies were undertaken and published over a period of five decades, and many presented unique findings on this under-researched inherited condition.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"107-116"},"PeriodicalIF":1.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732231","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Prenatal diagnosis of congenital anomalies and birth institution complexity levels in Argentina. 产前诊断的先天性异常和出生机构的复杂性水平在阿根廷。

IF 1.5

Journal of Community Genetics Pub Date : 2025-04-01 Epub Date: 2025-01-21 DOI: 10.1007/s12687-024-00766-z

Analizia Astudillo, Boris Groisman, Pablo Barbero, María Paz Bidondo, Rosa Liascovich, Horacio Aiello, Marianela Trotta, Paloma Brun

{"title":"Prenatal diagnosis of congenital anomalies and birth institution complexity levels in Argentina.","authors":"Analizia Astudillo, Boris Groisman, Pablo Barbero, María Paz Bidondo, Rosa Liascovich, Horacio Aiello, Marianela Trotta, Paloma Brun","doi":"10.1007/s12687-024-00766-z","DOIUrl":"10.1007/s12687-024-00766-z","url":null,"abstract":"Patiens with major congenital anomalies diagnosed prenatally should be referred to and delivered in institutions with the appropriate level of complexity, as this reduces morbidity and mortality. We aimed to assess the prevalence and prenatal diagnosis proportion of selected congenital abnormalities and the complexity levels of birth institutions in a sample of public maternity hospitals in Argentina. Data sources were (1) National Congenital Anomalies Registry, covering the period from 2013 to 2021; and (2) Categorization of birth institutions according to their complexity (high or low). Newborns with the following anomalies were selected for analysis: spina bifida, hydrocephalus, critical congenital heart defects, diaphragmatic hernia, gastroschisis, and omphalocele. Prevalences at birth and prenatal diagnosis proportions were calculated according to the birth institution complexity level. A total of 2.214.102 births across 131 institutions were evaluated, with 1.202.311 births in high-complexity institutions and 1.011.791 in low-complexity institutions. The prevalences per 10.000 births and the prenatal diagnosis proportions for the entire sample were: spina bifida 5,40(95%CI 5,10 - 5,71) 68,54%; hydrocephalus 6,96(95% CI 6,62 - 7,32) 78,92%; critical congenital heart defects 11,05(95% CI 10,62 - 11,49) 43,21%; diaphragmatic hernia 3,88(95%CI 3,62 - 4,14) 68,65%; gastroschisis 7,85(95%CI 7,48 - 8,22) 79,27%; omphalocele 2,01(95%CI 1,83 - 2,20) 76,18%. Prevalences and prenatal diagnosis porportions were significantly higher in high-complexity institutions. Prenatal diagnosis and perinatal care networks must be improved to ensure that patients with major congenital anomalies are delivered in high-complexity birth institutions. The prevalence and prenatal diagnosis porportion, stratified by the complexity level of institutions, can serve as management indicators to evaluate improvements in care quality.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"161-166"},"PeriodicalIF":1.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013834","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study. 临床遗传服务在艾米利亚-罗马涅地区，意大利：目前的活动和开放的问题：混合方法的研究。

IF 1.5

Journal of Community Genetics Pub Date : 2025-04-01 Epub Date: 2025-01-11 DOI: 10.1007/s12687-024-00750-7

Lea Godino, Enrico Ambrosini, Valeria Barili, Claudio Graziano, Livia Garavelli, Olga Calabrese, Marcella Neri, Luca Sangiorgi, Benedetta Bertonazzi, Giovanni Innella, Daniela Turchetti, Antonio Percesepe

{"title":"Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study.","authors":"Lea Godino, Enrico Ambrosini, Valeria Barili, Claudio Graziano, Livia Garavelli, Olga Calabrese, Marcella Neri, Luca Sangiorgi, Benedetta Bertonazzi, Giovanni Innella, Daniela Turchetti, Antonio Percesepe","doi":"10.1007/s12687-024-00750-7","DOIUrl":"10.1007/s12687-024-00750-7","url":null,"abstract":"In 2002, in the Emilia-Romagna region of Italy, a comprehensive strategic plan was developed with the aim of improving the integration and efficiency of the genetic services. Two decades later, this report aims to explore the current functioning of the regional network, with special focus on clinical genetics in the evolving scenarios. To this aim, we analyzed the activity data of the medical genetics services in the region, to identify and possibly improve currently open issues. This is a mixed-method study, analyzing quantitatively and qualitatively the activities of seven medical genetics services in Emilia-Romagna region. Quantitative analysis considered the number of consultations and the composition of the staff in the year 2021. Qualitative analysis examined a focus group of directors of the services through reflexive thematic analysis. A total of 14,925 counseling sessions have been delivered by the medical genetics services, staffed with 22.4 full-time equivalent clinical geneticists. A physician performed an average of 14.5 consultations per week and approximately 1166 h of patient care per year. The clinical geneticists/inhabitants ratio was 0.54 per 100,000 inhabitants, and it is estimated that one every 278 inhabitants, on average, underwent a genetic counseling session in 2021. Qualitative analysis highlighted issues concerning patients' access to service, general organization and staff composition. In order to meet the growing demand for genetic counseling services, expansion of the workforce and adjustment of current practice models are required to increase the access to genetic services and the application of test results to clinical management.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"139-150"},"PeriodicalIF":1.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142967207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Perceptions of patients and stakeholders on a prenatal sickle cell disease screening and its results among tribal populations of Gujarat: a participatory mixed-method research. 患者和利益攸关方对古吉拉特邦部落人口产前镰状细胞病筛查及其结果的看法：一项参与式混合方法研究。

IF 1.5

Journal of Community Genetics Pub Date : 2025-04-01 Epub Date: 2025-01-21 DOI: 10.1007/s12687-025-00768-5

Apurvakumar Pandya, Kapil Dave, Shrey Desai, Gayatri Desai

{"title":"Perceptions of patients and stakeholders on a prenatal sickle cell disease screening and its results among tribal populations of Gujarat: a participatory mixed-method research.","authors":"Apurvakumar Pandya, Kapil Dave, Shrey Desai, Gayatri Desai","doi":"10.1007/s12687-025-00768-5","DOIUrl":"10.1007/s12687-025-00768-5","url":null,"abstract":"Prenatal screening (PNS) for Sickle Cell Disease (SCD) offers a potential avenue for informed reproductive choices and the sickle elimination initiative of the Government of India. The objective of the study was to explore perceptions and ethical dilemmas surrounding prenatal screening for sickle cell disease and subsequent termination of pregnancy among pregnant women and key stakeholders from the tribal region of Gujarat. The study employed sequential mixed-methods research, embedding a participatory research approach. Pregnant women and key stakeholders from Jhaghadia, Bharuch District of Gujarat were interviewed. The qualitative data was analyzed using a thematic analytic framework, and the quantitative data was presented with descriptive statistics. Findings revealed key themes such as knowledge about SCD and its management, knowledge about PNS, barriers to PNS, acceptance of PNS and ethical dilemmas related to the termination of pregnancy (TOP). The results show a mixed preference for prenatal screening from both qualitative and quantitative data, primarily due to the complex decision-making process. Couples with SCD reported a high preference for PNS and TOP if the foetus had sickle cell disease whereas couples living with SCD trait were assigned lowest priority and preference to under-go PNS and TOP. Decisions were influenced by limited knowledge, lack of lived experience of SCD, family pressure, cultural and religious beliefs, and social stigma. A comprehensive behaviour change communication strategies that empower couples and key stakeholders through culturally sensitive SCD & PNS literacy, and genetic counselling is essential to promote informed decision-making within the cultural context of tribal communities.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"167-181"},"PeriodicalIF":1.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013833","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Qualitative assessment of primary care providers' attitudes toward genetic services and genetics education. 初级保健提供者对遗传服务和遗传教育态度的定性评估。

IF 1.5

Journal of Community Genetics Pub Date : 2025-04-01 Epub Date: 2025-01-08 DOI: 10.1007/s12687-024-00764-1

Aileen Kenneson, Yasmin Thornton, Chelsea Cole, Sharanya Iyer, Ami R Rosen, Rani H Singh

{"title":"Qualitative assessment of primary care providers' attitudes toward genetic services and genetics education.","authors":"Aileen Kenneson, Yasmin Thornton, Chelsea Cole, Sharanya Iyer, Ami R Rosen, Rani H Singh","doi":"10.1007/s12687-024-00764-1","DOIUrl":"10.1007/s12687-024-00764-1","url":null,"abstract":"As the role of primary care providers (PCPs) in genetic medicine increases, there is a need for training related to the integration of genetics into primary care. However, little is known about PCPs' attitudes towards and perceived needs for such training. We conducted semi-structured interviews with nine PCPs to capture information about their perceptions of their role in genetics and their continuing medical educational needs related to genetics in primary care, and we conducted thematic analysis. The identified themes fell into the following topics: perceptions of genetics, PCPs' roles in genetics, common reasons for referrals to genetic services, barriers to referrals to genetic services, genetic tests ordered by PCPs, and PCPs' educational needs regarding genetics. The most common perception of genetics was for the indication of personal or family history of cancer. PCPs' self-described role in genetics fell into two categories: recognition for when a referral for genetic services is warranted and education of families. Participants were divided in their opinion as to whether they should order genetic tests. PCP's education needs fell into four main categories: how and when to refer to genetic services, test interpretation, basic genetics, and co-management of genetic conditions, with a particular emphasis on cancer. While PCPs expressed an interest in further genetics education, they also questioned the applicability of genetics to their practice. The information obtained in this study can help inform the development of successful education activities and programs in genetics for PCPs.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"131-137"},"PeriodicalIF":1.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142956656","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic counselling for psychiatric conditions: exploring current perceptions of family physicians and psychiatrists in Portugal.

IF 1.5

Journal of Community Genetics Pub Date : 2025-04-01 Epub Date: 2025-02-19 DOI: 10.1007/s12687-025-00774-7

B Ribeiro, I Homem de Melo, A Sequeira, R Moldovan, M Paneque

{"title":"Genetic counselling for psychiatric conditions: exploring current perceptions of family physicians and psychiatrists in Portugal.","authors":"B Ribeiro, I Homem de Melo, A Sequeira, R Moldovan, M Paneque","doi":"10.1007/s12687-025-00774-7","DOIUrl":"10.1007/s12687-025-00774-7","url":null,"abstract":"Genetic counselling emerged as a specialized healthcare discipline in the 1960s, and since then, various sub-specialties have developed globally, namely and more recently, psychiatric genetic counselling. This study provides a pioneering exploration of family physicians and psychiatrists' perceptions regarding genetic counselling provision and its potentialities in the context of psychiatric illnesses in Portugal. A qualitative methodology with semi-structured interviews was used. Among the participants, five were family physicians, and six were psychiatrists. Thematic analysis revealed three themes: (1) the role of genetics in healthcare, (2) barriers to psychiatric genetic counselling implementation, and (3) perceived benefits associated with its implementation. Results show that while the importance of genetics in psychiatric disorders is acknowledged, there is low literacy about genetic counselling practice from the professional groups interviewed. Also, the availability and mainstreaming of genetic testing seem to influence how genetic counselling is perceived and utilized. There is a perceived need for training and guidelines that foster the dissemination of genetics into healthcare, specifically mental healthcare. A holistic and patient-centred approach is considered essential in managing psychiatric disorders and, by extension, in psychiatric genetic counselling, as it addresses both medical and psychosocial factors. Although psychiatrists and family physicians are keen to integrate psychiatric genetic counselling into their patients' care, it seems that certain fundamental challenges still persist in genetic healthcare provision. Future research should contribute for a more comprehensive evaluation of the readiness for psychiatric genetic counselling implementation in the country.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"195-206"},"PeriodicalIF":1.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143450447","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Healthcare delay in neurogenetic disorders of adult onset and the role of predictive genetic testing.

IF 1.5

Journal of Community Genetics Pub Date : 2025-04-01 Epub Date: 2025-02-19 DOI: 10.1007/s12687-025-00777-4

Daniele Lima Rocha, Jordânia Dos Santos Pinheiro, Gabriel Vasata Furtado, Thayne Woycinck Kowalski, Karina Carvalho Donis, Marta Chaves, Greice Chini, Thais Lampert Monte, Raphael Machado de Castilhos, Maria Luiza Saraiva-Pereira, Lavínia Schuler-Faccini, Laura Bannach Jardim

{"title":"Healthcare delay in neurogenetic disorders of adult onset and the role of predictive genetic testing.","authors":"Daniele Lima Rocha, Jordânia Dos Santos Pinheiro, Gabriel Vasata Furtado, Thayne Woycinck Kowalski, Karina Carvalho Donis, Marta Chaves, Greice Chini, Thais Lampert Monte, Raphael Machado de Castilhos, Maria Luiza Saraiva-Pereira, Lavínia Schuler-Faccini, Laura Bannach Jardim","doi":"10.1007/s12687-025-00777-4","DOIUrl":"10.1007/s12687-025-00777-4","url":null,"abstract":"Healthcare delay (HCDe) is an important but not well-known issue in genetic disorders, especially in tandem nucleotide repeat expansion diseases (TNRED). We aimed to investigate it and determine whether predictive genetic testing (PGT) and other factors may impact HCDe. A retrospective review was performed on electronic files of symptomatic and pre-symptomatic consultants (SC and PSC) by the time of their first evaluation, from TNRED families followed from 1998 to 2023. HCDe was the difference between ages at onset of symptoms (AO) and at start of healthcare for these symptoms in SC and PSC. Age, diagnosis, year of diagnosis, sex, AO, residence, schooling, index cases, and previous PGT were analyzed. Of the 1,100 subjects reviewed, 811 and 101 were SC and PSC carriers of Huntington disease, Huntington disease-like 2, spinocerebellar ataxia type 2, 3, 6, 7, or 10, or Friedreich ataxia. Their median (IQR) HCDe was 5 (6) years and did not differ across diseases. Over the years, the number of annual PSC diagnoses became similar to that of SC. Better schooling and recurrent familial cases were associated with shorter HCDe, but the strongest effect on HCDe was related to PGT: in 33 PSC who converted and came to healthcare, HCDe was of 1 year (p < 0.0001, MW). HCDe was large in all TNRED studied. Parameters related to better access to information, especially PGT, improved HCDe. As molecular diagnoses become more frequent in PSC, we expect that HCDe will be reduced in the future.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"207-215"},"PeriodicalIF":1.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143450454","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Adaptation and validation of a tool for the quality assessment of genetic counseling in Brazil: perspectives from clinical geneticists. 巴西遗传咨询质量评估工具的适应和验证：来自临床遗传学家的观点。

IF 1.5

Journal of Community Genetics Pub Date : 2025-04-01 Epub Date: 2025-01-18 DOI: 10.1007/s12687-025-00767-6

Maria Vitoria Gomes da Silva, Kathleen da Silva Sousa, Catarina Costa, Carolina Lemos, Milena Paneque, Carla Maria Ramos Germano, Lucimar Retto da Silva de Avó, Débora Gusmão Melo

{"title":"Adaptation and validation of a tool for the quality assessment of genetic counseling in Brazil: perspectives from clinical geneticists.","authors":"Maria Vitoria Gomes da Silva, Kathleen da Silva Sousa, Catarina Costa, Carolina Lemos, Milena Paneque, Carla Maria Ramos Germano, Lucimar Retto da Silva de Avó, Débora Gusmão Melo","doi":"10.1007/s12687-025-00767-6","DOIUrl":"10.1007/s12687-025-00767-6","url":null,"abstract":"In 2018, Portuguese researchers proposed the \"Tool for Quality Assessment of Genetic Counseling,\" a 5-point Likert scale comprising 50 items across five dimensions, designed to assess genetic counseling from the professional's perspective. This descriptive, cross-sectional study aimed to adapt this tool to Brazilian Portuguese, validate it among Brazilian clinical geneticists, and conduct a preliminary assessment of the quality of genetic counseling in Brazil. The adaptation process involved expert-driven content validation and calculation of the Content Validity Index (CVI) to ensure equivalence between the original and adapted versions. The adapted tool was subsequently administered to 81 clinical geneticists, including physicians and nurses, and the data were analyzed using Principal Component Analysis. Items with factor loadings above 0.4 were retained for interpretive purposes. Results were normalized and categorized. The adapted items achieved acceptable CVIs, ranging from 0.831 to 1.0, demonstrating strong validity. Scale results revealed that the dimensions \"genetic counseling outcomes\" (100%), \"education\" (86.41%), and \"individual attributes\" (80%) were rated as very good, \"counselor-client relationship\" (76.33%) as good, and \"service functioning\" (59.95%) as sufficient. These findings indicated that although participants perceived the genetic counseling they provided as achieving desired outcomes, deficiencies in service functioning negatively impacted perceptions of overall quality, highlighting the need for systemic improvements to enhance service delivery. This cross-cultural adaptation validated a reliable new instrument for Brazilian professionals, providing a robust foundation for future research and applications in diverse clinical settings.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"151-159"},"PeriodicalIF":1.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143013681","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

"I am sick, but that's not all that I am": patient perspectives on psychological adaptation over time to inborn errors of immunity. “我生病了，但这不是我的全部”：患者对先天免疫错误的心理适应的观点。

IF 1.5

Journal of Community Genetics Pub Date : 2025-04-01 Epub Date: 2025-01-06 DOI: 10.1007/s12687-024-00758-z

Breanna J Beers, Hannah R Davidson-Swinton, Katie L Lewis, Michael R Setzer, Magdalena A Walkiewicz, Morgan N Similuk

{"title":"\"I am sick, but that's not all that I am\": patient perspectives on psychological adaptation over time to inborn errors of immunity.","authors":"Breanna J Beers, Hannah R Davidson-Swinton, Katie L Lewis, Michael R Setzer, Magdalena A Walkiewicz, Morgan N Similuk","doi":"10.1007/s12687-024-00758-z","DOIUrl":"10.1007/s12687-024-00758-z","url":null,"abstract":"Inborn errors of immunity (IEI) are rare heritable disorders of the immune system predisposing to atypical infections, autoimmunity, inflammation, and risk of malignancy. Adaptation is the process of incorporating stressful experiences into one's life; these experiences may include onset of illness, receiving a diagnosis, or suffering without a diagnosis. Poor adaptation is linked to adverse outcomes including psychiatric comorbidities and decreased well-being. Most people with chronic illnesses and rare diseases adapt to their condition with time, but little is known about how this happens. We seek to address this gap in knowledge by investigating features of successful adaptation to IEI over time to help providers facilitate this process among those who struggle. We interviewed 20 self-reportedly well-adapted adults with IEI about their experiences of adaptation. We identified three overarching themes. First, many participants grappled with shame and loss but ultimately integrated their illness into their lives through acceptance, gratitude, and self-compassion. Second, knowledge and choice contributed to participants' perceived control, but most participants were also forced to acknowledge the limits of that control when confronting unpredictable symptoms. Finally, social relationships could influence adaptation either positively or negatively. Notably, many participants found meaning in giving back to their communities, especially by educating others about their condition. Ultimately, participants showed that adaptation to life with IEI is complex and ongoing, requiring frequent recalibration to emerging challenges in new life stages. We provide recommendations to providers to help the results of this study shape their discussions with patients.","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"117-130"},"PeriodicalIF":1.5,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142932834","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0