Journal Of Community Genetics[JOURNAL]
Sun
200 papers
Experiences of stigmatization and its impacts among individuals living with hereditary diseases and family members in Portugal: an exploratory study.
Valentim J, Paneque M, Mendes Á
J Community Genet · 2025 Dec · PMID 40016373 · Full text
Stigma is defined as the perception of an undesirable attribute that leads to discrimination against individuals and groups. Stigmatisation is often triggered due to visible physical or cognitive differences. Although th...
Stigma is defined as the perception of an undesirable attribute that leads to discrimination against individuals and groups. Stigmatisation is often triggered due to visible physical or cognitive differences. Although the literature consistently highlights the (fear of) stigmatisation as a significant concern among individuals living with hereditary conditions, no studies in Portugal have specifically provided evidence on this issue. This study aims to address this gap by examining the experiences and impact of stigma on individuals and families affected by hereditary diseases in Portugal. After receiving ethics approval, a total of 216 participants, including affected individuals, asymptomatic carriers and family members from families with a range of hereditary conditions, were recruited through patient support associations. Participants completed an online questionnaire via Limesurvey. Data were analysed through Exploratory Factor Analysis (EFA), median comparison tests, and thematic analysis. Of the participants, 78.7% were women, 55.6% had a university degree, and 20.4% were aged between 42 and 47 years. Findings indicate that stigma impacts individuals across various domains, including social interactions, institutional settings, the workplace, and healthcare. EFA identified a bi-factorial model of stigma, comprising Stigma Experiences and Perceived Support subscales, and the overall scale demonstrated high internal consistency (α = .879). Women and younger participants reported higher levels of stigma. Religiosity and humor emerged as key coping strategies. This study is the first in Portugal to assess stigma among individuals living with hereditary conditions. Our findings contributed to validating a measurement instrument, identified sociodemographic variations, and examined the psychosocial dimensions of stigma among affected patients. These findings highlight the need for comprehensive strategies to address and mitigate stigma, improve support systems, and enhance the well-being and healthcare experiences of individuals and families impacted by hereditary diseases.
The other side of variant transthyretin amyloidosis with polyneuropathy: psychosocial experience of members of Portuguese families with late onset of the disease.
Pereira JD, Santos A, Cisneros-Barroso E … +3 more , Anan I, Lemos MS, Paneque M
J Community Genet · 2025 Jun · PMID 39976900 · Full text
This study is the first to explore the psychosocial experience of members of Portuguese families with late-onset variant transthyretin amyloidosis with polyneuropathy (A-ATTRv-PN). Based on a constructivist worldview, th...
This study is the first to explore the psychosocial experience of members of Portuguese families with late-onset variant transthyretin amyloidosis with polyneuropathy (A-ATTRv-PN). Based on a constructivist worldview, this phenomenological investigation followed a qualitative approach by conducting eight interviews and analyzing qualitative data. The main results suggest that the psychosocial experience of the members of families interviewed is marked by: (a) a delayed awareness of the family disease (viz., in adulthood), (b) psychosocial impacts (viz., emotional and other impacts related to work, parenting, caregiving) experienced and anticipated in an adult phase of the life cycle, and (c) the use of approach strategies (e.g., seeking information about A-ATTRv-PN and seeking social support) and/or avoidance strategies (e.g., avoiding seeking information and talking to others about the condition) with a view to accommodating A-ATTRv-PN in personal and family life. These results differ from the life trajectories of members of Portuguese families with A-ATTRv-PN described previously and extend previous scientific evidence on the psychosocial experience of members of families where the disease typically appears late, contributing to further study on this topic and to the optimization of genetic counseling practices and health policies that respond to the psychosocial needs of members of Portuguese families with late onset of the condition. Future studies should continue to deepen our understanding of the psychosocial experience of this population to improve the clinical response provided to patients, families, and caregivers.
Healthcare delay in neurogenetic disorders of adult onset and the role of predictive genetic testing.
Rocha DL, Pinheiro JDS, Furtado GV … +9 more , Kowalski TW, Donis KC, Chaves M, Chini G, Monte TL, de Castilhos RM, Saraiva-Pereira ML, Schuler-Faccini L, Jardim LB
J Community Genet · 2025 Apr · PMID 39969791 · Full text
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 geneti...
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.
Genetic counselling for psychiatric conditions: exploring current perceptions of family physicians and psychiatrists in Portugal.
Ribeiro B, Homem de Melo I, Sequeira A … +2 more , Moldovan R, Paneque M
J Community Genet · 2025 Apr · PMID 39966313 · Full text
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 prov...
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.
Is Brazil following global trends in high-cost treatments? The case of Pompe Disease.
Bento Dos Santos B, de Oliveira Carvalho Faria C, Cirilo HNC … +3 more , Dornelles AD, de Oliveira Junior HA, Schwartz IVD
J Community Genet · 2025 Aug · PMID 39946071 · Full text
Access to high-cost drugs for rare diseases poses global challenges, especially in low- and middle-income countries. Pompe Disease (PD) exemplifies these challenges as a case study to analyze Brazil's approach to accessi...
Access to high-cost drugs for rare diseases poses global challenges, especially in low- and middle-income countries. Pompe Disease (PD) exemplifies these challenges as a case study to analyze Brazil's approach to accessing high-cost therapies. This study aims to characterize access to high-cost drugs for rare diseases in Brazil using PD as a reference and to compare Brazil's approach with global trends in PD treatment. A documentary review on access to PD treatment within Brazil's Unified Health System (SUS) was conducted. This included health technology assessments (HTA) and regulatory decisions from Brazilian and international agencies. Data on the dispensing of alglucosidase alfa from the Brazilian Outpatient Information System (SIA/SUS; Jan 2020-May 2024) were analyzed and compared to previous budget impact estimates. Only alglucosidase alfa is covered by the SUS, and exclusively for Infantile-onset Pompe Disease (IOPD). Projections for vial usage in the SUS were overestimated. Key drivers of access include Ministry of Health policies, HTA recommendations, judiciary decisions, and industry actions. Brazil's access model shows partial alignment with global trends, but significant gaps remain. The study highlights systemic issues that are relevant to other rare diseases, offering insights and lessons for Brazil and other middle-income countries.
Epidemiological surveillance in congenital anomalies and rare diseases in Brazil: present situation and future challenges.
Schuler-Faccini L, de Menezes Karam S, Vieira Sanseverino MT … +21 more , Barbian MH, Gomes JDA, Bremm JM, Cardoso-Dos-Santos AC, Lorea CF, Donis KC, Rohweder R, Cardoso-Junior LM, do Carmo JC, Corecco-Moura PDS, de Oliveira FG, de Oliveira RR, Prazeres VMG, da Silva JH, Muniz NF, Babalola AD, Krieck LK, de Souza AL, Ataíde EJG, Oliveira LAN, França GVA
J Community Genet · 2025 Aug · PMID 39932625 · Full text
Brazil is a middle-income country with approximately 210 million inhabitants, with around 2,900,000 births annually. Besides its extensive territorial area, the country is characterized by huge heterogeneity in many aspe...
Brazil is a middle-income country with approximately 210 million inhabitants, with around 2,900,000 births annually. Besides its extensive territorial area, the country is characterized by huge heterogeneity in many aspects, notably in socioeconomic status, education, access to healthcare, geographic mobility, different biomes, agricultural practices and diverse ethnic ancestry. These characteristics directly impact the frequency and distribution of genetic disorders and Congenital Anomalies (CA), which are the second leading cause of death in the first year of life. In this review, we will present the main initiatives and available information from governmental organs and scientific research in Brazil regarding the epidemiology of congenital anomalies and rare diseases, emphasizing teratogenic risk factors and population medical genetics aspects.
Redefining the approach to rare diseases: the experience of "Casa dos Raros" in Brazil.
Giugliani R, de Oliveira BM, Guaraná BB … +9 more , Tonon T, Trapp FB, da Costa FM, da Silva LP, Baldo G, Riegel-Giugliani M, Barbosa F, Daher A, de Souza CFM
J Community Genet · 2025 Aug · PMID 39913066 · Full text
Rare diseases include 6,000-8,000 different conditions, over 70% of them having a genetic cause. Most cases have early manifestations (in childhood and adolescence), and just a small fraction (around 5%) has specific the...
Rare diseases include 6,000-8,000 different conditions, over 70% of them having a genetic cause. Most cases have early manifestations (in childhood and adolescence), and just a small fraction (around 5%) has specific therapies available. Nevertheless, appropriate management measures contribute to improve the quality of life of patients and families. They affect up to 3.5-5.9% of the world's population and are recently attracting attention from international agencies such as the United Nations and the World Health Organization. In Brazil, a condition is considered rare when there are no more than 65 people affected in each 100,000 inhabitants and it is estimated that around 12 million people in the country may present one of these conditions, which represents a significant burden to the family and to the health care system. Despite concrete advances observed in the last decades, there are still significant unmet needs for persons living with rare diseases in Brazil. With the main aim of shortening the journey of patients with rare diseases in Brazil, we envisioned a model that involves comprehensive clinical and laboratorial multiprofessional evaluations, with intensive use of telemedicine and genomics. The model includes a strong activity in education, training and research, and has several parallel initiatives (biobank, registry, undiagnosed disease program, information services, extramural diagnostic support), in addition to strategic partnerships, that make the overall project stronger. This report describes the system in place at the pilot unit of Casa dos Raros (that started activities in 2023, in Porto Alegre, Brazil) and the stimulating preliminary results, which indicate a significant reduction in the diagnostic journey. This model, that operates as a charity and does not charge any fees to patients and families, will be replicated in other regions of Brazil, with the opening of a second unit planned to occur in the near future in Sao Paulo.
Enhancing familial hypercholesterolemia diagnosis in pediatrics through universal screening and provider education.
Abousaad O
J Community Genet · 2025 Feb · PMID 39903401 · Full text
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Prenatal diagnosis of congenital anomalies and birth institution complexity levels in Argentina.
Astudillo A, Groisman B, Barbero P … +5 more , Bidondo MP, Liascovich R, Aiello H, Trotta M, Brun P
J Community Genet · 2025 Apr · PMID 39838159 · Full text
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 p...
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.
Assessment of biobank awareness among medical students in Iran.
Domaradzki J, Jahanshahi R, Walkowiak MP … +1 more , Walkowiak D
J Community Genet · 2025 Apr · PMID 39838158 · Full text
BACKGROUND: Despite the rise of research biobanks in the Middle East, they continue to struggle with the limited number of donors. Although qualified healthcare professionals may address it, the awareness of biobanks amo...
BACKGROUND: Despite the rise of research biobanks in the Middle East, they continue to struggle with the limited number of donors. Although qualified healthcare professionals may address it, the awareness of biobanks among future physicians is low. This paper assesses the attitudes towards research biobanks among Iranian medical students. METHODS: 459 medical students completed an anonymous self-administered online questionnaire regarding the knowledge and attitudes of future physicians towards biobanking. RESULTS: This study demonstrates that almost half of the students had not heard about biobanks, and one-third had mixed feelings about biobank research. The majority declared a willingness to share their biological material for biobank research and declared altruistic motivation. Students' willingness to donate was influenced by the type of tissues, the purpose of biobank research and trust in biobanks, which influenced their preference for a study-specific consent model. Students expressed concern over biospecimens' unethical or commercial use and data safety. CONCLUSION: This research shows that promoting knowledge about biobank-based research among future physicians in Iran is crucial.
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.
Pandya A, Dave K, Desai S … +1 more , Desai G
J Community Genet · 2025 Apr · PMID 39833511 · Full text
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 explo...
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.
Adaptation and validation of a tool for the quality assessment of genetic counseling in Brazil: perspectives from clinical geneticists.
da Silva MVG, Sousa KDS, Costa C … +5 more , Lemos C, Paneque M, Germano CMR, de Avó LRDS, Melo DG
J Community Genet · 2025 Apr · PMID 39826034 · Full text
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 professi...
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.
Clinical genetic services in the Emilia-Romagna region, Italy: current activity and open issues: a mixed-method study.
Godino L, Ambrosini E, Barili V … +9 more , Graziano C, Garavelli L, Calabrese O, Neri M, Sangiorgi L, Bertonazzi B, Innella G, Turchetti D, Percesepe A
J Community Genet · 2025 Apr · PMID 39797934 · Full text
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 explor...
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.
Newborn screening in Brazil: realities and challenges.
de Souza CFM, Tonon T, Silva TO … +1 more , Bachega TASS
J Community Genet · 2025 Aug · PMID 39792349 · Full text
Neonatal screening is a critical public health initiative introduced worldwide to detect severe congenital disorders early in life. This study provides an updated overview of public neonatal screening in Brazil, highligh...
Neonatal screening is a critical public health initiative introduced worldwide to detect severe congenital disorders early in life. This study provides an updated overview of public neonatal screening in Brazil, highlighting the transition from initial pilot projects to a robust national program. Through the analysis of recent data up to 2023, we discuss the coverage and regional efficiencies of the program. Our findings indicate significant improvements in national screening coverage; however, notable disparities persist among different regions. States such as São Paulo, Minas Gerais, Paraná, Santa Catarina, and Brasilia (Federal District) demonstrate high efficiency and coverage rates, while Northern regions continue to face challenges. This study discusses the implications of these disparities and emphasizes the need for continuous efforts to achieve universal and effective neonatal screening across Brazil. The findings underscore the importance of enhancing health policies and resource allocation to ensure timely diagnosis and intervention for all newborns nationwide.
Qualitative assessment of primary care providers' attitudes toward genetic services and genetics education.
Kenneson A, Thornton Y, Cole C … +3 more , Iyer S, Rosen AR, Singh RH
J Community Genet · 2025 Apr · PMID 39779658 · Full text
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 an...
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.
"I am sick, but that's not all that I am": patient perspectives on psychological adaptation over time to inborn errors of immunity.
Beers BJ, Davidson-Swinton HR, Lewis KL … +3 more , Setzer MR, Walkiewicz MA, Similuk MN
J Community Genet · 2025 Apr · PMID 39760816 · Full text
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 stress...
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.
'Clarifying', 'assuming', and 'reducing' stigma: a commentary on stigma in genetics.
Thomas GM
J Community Genet · 2025 Dec · PMID 39739236 · Full text
The concept of stigma has been applied across many disciplines. Within the context of health and illness, research on stigma tells familiar stories about the impact of a diagnosis on the lives of individuals and their fa...
The concept of stigma has been applied across many disciplines. Within the context of health and illness, research on stigma tells familiar stories about the impact of a diagnosis on the lives of individuals and their families, and the perceived negative effects of stigma on them and their relationships. This can result in public and private efforts to 'reduce' stigma for certain social groups by raising awareness and sharing more positive stories about their lives. As the editors of this special issue recognise, researching the 'real' or 'imagined' stigmatisation of people with genetic conditions has a long history. However, research on stigma in the context of health and illness often suffers from three shortcomings: (1) the term 'stigma' is rarely clarified; (2) stigma is frequently assumed, and; (3) approaches to reduce stigma are presumed to be simple and without tension. My intention in this commentary is not to deny the very real impact of stigma on people's lives. Instead, I set out to inform how readers across the disciplines of biomedicine, genetic counselling, sociology, anthropology, bioethics, and psychology, among others, can comprehend and further consider the use of stigma as a concept, particularly for those interested in the lives of people with genetic conditions.
Supporting the continuous development and use of a patient partnership framework in European rare disease networks (ERNs): a scoping review of frameworks in the scientific literature.
Spivack OKC, Klein Haneveld MJ, Louisse S … +2 more , Slater G, Hernando I
J Community Genet · 2025 Feb · PMID 39708237 · Full text
The European Reference Networks (ERNs) for rare and complex diseases offer significant potential for building, maintaining and evaluating patient partnership, for which the recently developed ERN Patient Partnership Fram...
The European Reference Networks (ERNs) for rare and complex diseases offer significant potential for building, maintaining and evaluating patient partnership, for which the recently developed ERN Patient Partnership Framework may serve as guidance. This scoping review aims to identify and describe relevant frameworks published in scientific literature, capturing key learning points to inform future updates of the ERN Patient Partnership Framework and promote its use in practice. MEDLINE, Embase, and the Web of Science Core Collection were searched to identify recently published frameworks (2013-2023) focused on patient partnership and aligned with at least one core ERN activity. Framework characteristics were summarised and information pertaining to their content, structure and practical use was extracted. Twelve relevant frameworks were identified, presenting practical approaches, conceptual understandings or both. Five frameworks focused on areas aligned with specific core ERN activities; others had an overarching scope. Frameworks presented various engagement approaches and employed heterogeneous terminology and development methods. Frameworks differed in their content and structure and presented key considerations for use. Our review underscores the importance of providing clear definitions and explanations of patient partnership. It provides insight into how meaningful, and inclusive patient partnership can be promoted within our diverse ERN context and sheds light on the importance of framework implementation as a prerequisite to structured evaluation. Learning points generated from this review will be used to inform future updates of the ERN Patient Partnership Framework and promote its implementation in practice.
Healthcare professionals' experiences with expanded noninvasive prenatal screening: challenges and solutions.
Claesen-Bengtson Z, van der Meij KRM, Vermeesch JR … +2 more , Henneman L, Borry P
J Community Genet · 2025 Feb · PMID 39708236 · Full text
Genome-wide non-invasive prenatal cell-free DNA screening (NIPT) can lead to the early detection of important health-related information for the fetus and pregnant woman. However, the expanding scope of screening heighte...
Genome-wide non-invasive prenatal cell-free DNA screening (NIPT) can lead to the early detection of important health-related information for the fetus and pregnant woman. However, the expanding scope of screening heightens information complexity and creates challenges for clinical interactions. This study explored Belgian healthcare professionals' experiences to identify challenges and solutions to expanded NIPT in practice. We assessed experiences of 31 healthcare professionals including clinical geneticists, gynecologists, midwives, counselors, and laboratory specialists, in Belgium where NIPT is publicly reimbursed. The interviews were analyzed inductively and iteratively. Key challenges to expanded NIPT were identified and structured under three headings: (1) Pre-test information provision: The more is tested for, the more complex the information provision becomes; (2) Return of results: Knowing more might be worse than knowing less; and (3) Hurdles that complicate setting a (nation-wide) scope. Solutions mentioned included providing additional resources for counseling, implementing value-based counseling, and a uniform scope of NIPT. To minimize potential harms and to retain trust of NIPT-users, it is crucial that best practices for counseling and reporting results are more substantiated. Sustainable lines of communication should be developed across stakeholder groups to navigate transparent implementation of technological developments in prenatal genetic screening.
Experts' perspectives on human gene editing in Switzerland.
Berlincourt J, Gächter S, Vayena E … +1 more , Ormond KE
J Community Genet · 2025 Feb · PMID 39699768 · Full text
Despite many specialized studies on the views of the public or stakeholders who face inherited conditions that may be treatable by HGE, limited studies have focused on experts' views towards Human Gene Editing (HGE). The...
Despite many specialized studies on the views of the public or stakeholders who face inherited conditions that may be treatable by HGE, limited studies have focused on experts' views towards Human Gene Editing (HGE). Therefore, in this study we conducted exploratory interviews with 14 experts (scientists, clinicians, social scientists, lawyers) in Switzerland to assess their views towards HGE and how they expect the Swiss public to view HGE. We found general acceptance of Somatic Gene Editing (SGE), but opinions towards Germline Gene Editing (GGE) were more divided. Participants emphasized patient autonomy and informed decision-making in pursuing gene editing treatments, and described a need for regulation, as with any other new therapy. Only a few participants (mostly lawyers and ethicists) described the regulations that currently prohibit GGE in Switzerland. Some expressed concern that restrictive regulations would lead to healthcare outsourcing and medical tourism to other nearby countries, as it has in the past with other restricted technologies. The analysis explored the unique Swiss context that is shaped by cultural diversity, conservative attitudes towards new medical technologies, and a democratic system that engages the public in policy and law making. Given that our findings identify areas of difference from that published in other countries, we emphasize the value in conducting similar research across different countries in order to achieve a global sense of attitudes towards HGE, so that regulations can be tailored to the diverse needs of citizens around the world.
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