Journal Of Community Genetics[JOURNAL]
Sun
200 papers
Experiences and insights of thalassaemia carriers from an indigenous community in Sabah, Malaysia.
Hussein N, Lee YK, Mohamed Reza S … +4 more , John P, Azmi A, Qureshi N, Ng CJ
J Community Genet · 2025 Oct · PMID 40366561 · Full text
Despite the government's concerted efforts in implementing the National Thalassaemia Prevention and Control Program since 2004, public awareness and attitudes towards participation in screening remain unsatisfactory. Thi...
Despite the government's concerted efforts in implementing the National Thalassaemia Prevention and Control Program since 2004, public awareness and attitudes towards participation in screening remain unsatisfactory. This study explored the experiences and insights of carriers from an indigenous community in Sabah, Malaysia, which has the highest carrier rates in the country. Understanding the perspectives of these carriers on the thalassaemia screening program and its impact is essential for ensuring its success. Participants who are thalassaemia carriers were purposively recruited for in-depth interviews at a hospital's thalassaemia day-care centre and at a public health clinic in Kota Belud, Sabah. Interviews were transcribed verbatim and analysed using thematic analysis. A total of 26 thalassaemia carriers were interviewed. Four main themes emerged from this study: 1) "I don't really understand the meaning of being a carrier!" 2) How does knowing thalassaemia diagnosis of family members influence the decision to undergo screening? 3) Impact of carrier status on relationships, emotional well-being and reproductive decisions; and 4) The importance of being a carrier should not be overlooked. To enhance future efforts supporting the current thalassaemia screening strategy, recommendations include improving understanding of what it means to be a carrier, correcting misconceptions, and importantly, revisiting and strengthening the cascade or family screening strategy at the community level. It is essential to address the implications of being a carrier appropriately in clinical care, as they should not be underestimated. Additionally, community partnerships can help raise awareness among the indigenous rural population.
Association between cancer screenings uptake and genetic testing for cancer risk among US adults: findings from HINTS 2017-2020.
Hong YR, Wang R, Carrier A … +6 more , Ricks-Santi L, Kea T, Patel K, Virnig BA, Sahin I, Braithwaite D
J Community Genet · 2025 Oct · PMID 40304964 · Full text
Genetic testing for cancer risk is a vital tool for preventive care, yet its association with the uptake of evidence-based cancer screening remains unclear. This study examined the association between cancer-risk genetic...
Genetic testing for cancer risk is a vital tool for preventive care, yet its association with the uptake of evidence-based cancer screening remains unclear. This study examined the association between cancer-risk genetic testing and cancer screening uptake using data from the Health Information National Trends Survey (2017 and 2020), a nationally representative sample of US adults. We focused on the United States Preventive Services Task Force (USPSTF)-recommended screening tests for colorectal (CRC), breast, and cervical cancers. Multivariable logistic regression models, adjusted for sociodemographic and clinical factors, were used to assess the relationship between cancer screening uptake and cancer-risk genetic testing. The analysis included 6,629 respondents (mean age 48.5 years; 50.7% female; 61.1% non-Hispanic White). Of the respondents, 3.3% had undergone genetic testing for cancer risk. Among eligible populations, screening uptake was 85.2% for Pap tests, 80.8% for mammograms, and 81.3% for CRC. Unadjusted analysis showed a significant association between breast cancer screening and genetic testing (p = 0.005), which lost significance after covariate adjustment. Most respondents who underwent genetic testing received result interpretation assistance from healthcare providers and genetic counselors. Among those who received genetic testing, all respondents who received assistance from genetic counselors were adherent to cancer screening recommendations. Our results suggest that while genetic testing was associated with breast cancer screening in unadjusted analyses, this association was not maintained after adjusting for covariates. No significant associations were found between genetic testing and cervical cancer or CRC screening. Further research using prospective designs is needed to examine the effectiveness of genetic testing in enhancing cancer prevention and screening efforts.
Genetic testing education needs among parents of children with autism spectrum disorder in Taiwan: a qualitative investigation.
Meng X, Yeh SY, Zhang Z … +2 more , Huang TY, Chen LS
J Community Genet · 2025 Jun · PMID 40299284 · Full text
As there was a gap in research focused on the autism spectrum disorder (ASD) genetic testing educational needs of Taiwanese parents of children with ASD, our objective was to explore their ASD genetic testing-related edu...
As there was a gap in research focused on the autism spectrum disorder (ASD) genetic testing educational needs of Taiwanese parents of children with ASD, our objective was to explore their ASD genetic testing-related educational needs and preferences. Semi-structured interviews were conducted with 39 Taiwanese parents of children with ASD. All interview data were analyzed to identify emergent themes using content analysis. The study included 31 mothers and 8 fathers with a mean age of 42. Most interviewees were married (92.3%) and held a college degree or higher (61.5%). Most interviewees reported positive attitudes toward ASD genetic testing education and identified preferred educational topics that included: (1) ASD genetic testing cost, procedures, accuracy, reliability, benefits, risks, and scientific basis, (2) genetic testing report interpretation, and (3) the experiences of other parents whose children have undergone ASD genetic testing. Parents reported that their most preferred education methods were in-person lectures and seminars, printed health education materials, and web-based education and that they preferred receiving education from reliable sources including healthcare providers, ASD organizations, and schools. Taiwanese parents of children with ASD in this study expressed interest in ASD genetic testing education. They preferred a variety of topics and delivery methods and welcomed education from diverse sources. These findings provide significant implications for the development of evidence-based ASD genetic testing focused health education programs and materials tailored to the needs of parents of children with ASD in Taiwan.
"I miss stars, too": a thematic analysis of the experiences of persons with retinitis pigmentosa using Reddit.
Ng QX, Chan HW, Koh GCH
J Community Genet · 2025 Oct · PMID 40299283 · Full text
Retinitis pigmentosa (RP) is a progressive retinal disorder that affects the emotional, psychological, and social lives of those afflicted. With limited effective treatments, understanding the personal challenges faced b...
Retinitis pigmentosa (RP) is a progressive retinal disorder that affects the emotional, psychological, and social lives of those afflicted. With limited effective treatments, understanding the personal challenges faced by individuals with RP is essential for developing holistic care strategies. Informed by a critical realist epistemology, posts and comments from two central subreddit threads with at least 30 comments each were extracted and analyzed using Braun and Clarke's reflexive thematic analysis. A total of 69 posts from 36 unique commenters were coded, and themes were derived through team discussions and an iterative process to identify recurring patterns in the data. Three key themes were identified: (1) navigating grief and loss, reflecting the emotional toll of progressive vision loss and the associated loss of independence and cherished activities; (2) establishing independence through coping mechanisms, which involved using technology, adapting hobbies, and emotional resilience to manage the impacts of RP; and (3) maintaining a delicate balance between hope and frustration with treatments, highlighting participants' mixed feelings toward emerging therapies like gene therapy and their perceived efficacy. In summary, the findings underscore the complex psychological and emotional challenges faced by individuals with RP and the need for more holistic care services. Understanding these experiences is crucial for healthcare providers, policymakers, and researchers to better support the RP community. Future research should focus on the psychological impacts of RP, the effectiveness of coping strategies, and outcomes of supportive interventions to enhance the quality of life of those affected.
Working together: development of a genetic counselling curriculum in a medical genetics residency training program.
Castle AMR, Goldsmith C, Lazier J
J Community Genet · 2025 Jun · PMID 40274733 · Full text
Medical geneticists are physicians who assess, diagnose, and manage individuals with rare genetic diseases. They work with genetic counsellors who are health professionals with specialized training in genetics and counse...
Medical geneticists are physicians who assess, diagnose, and manage individuals with rare genetic diseases. They work with genetic counsellors who are health professionals with specialized training in genetics and counselling. Both provide genetic counselling in their practice. In many centres, genetic counsellors provide patient care collaboratively with geneticists. Given the close working relationship and potential for perception of a hierarchy, interpersonal conflicts can arise, which may be accentuated when the respective scopes of practice are not appreciated. We developed a longitudinal interprofessional curriculum for genetics residents to improve counselling skills, increase understanding of the skills of genetic counsellors, and foster positive relationships. We aim to assist our trainees in navigating the close working relationship and overlapping scopes of practice. Anticipated barriers included increased evaluation workload for genetic counsellors and curriculum transitions, addressed via development of a collaborative evaluation tool. We created a genetic counsellor mentor role, highlighting the importance of interdisciplinary mentorship, and introduced a Junior Attending rotation to provide experience with supervision. Participant feedback has been positive, citing improved communication and increased confidence in counselling. Genetic counsellors have been supportive in their teaching and curriculum contributions. The curriculum has been reviewed nationally with positive and constructive receipt. We continue to assess impacts of the curriculum on transition to practice and are reviewing if the mentor-mentee relationships continue past graduation. Our program has benefited from using allied health professionals in educational, evaluator, and mentorship roles, and hope dissemination of this curriculum can serve as a roadmap for other programs.
Quality education as a cornerstone of community genetics.
Houwink EJ
J Community Genet · 2025 Jun · PMID 40244505 · Full text
Abstract loading — click title to view on PubMed.
An exploration of the perspectives of Dutch adults experiencing a genetic condition on human germline gene editing.
Arnold SJAN, Houtman D, Retel Helmrich IRA … +3 more , Hilberink SR, Riedijk SR, ‘The DNA dialogues’ Consortium
J Community Genet · 2025 Oct · PMID 40229638 · Full text
Views of people with a genetic condition are crucial in deliberations on human germline gene editing (HGGE), but their perspectives are at risk to be devalued due to epistemic injustice and insufficient attention for the...
Views of people with a genetic condition are crucial in deliberations on human germline gene editing (HGGE), but their perspectives are at risk to be devalued due to epistemic injustice and insufficient attention for the possible sensitivities surrounding HGGE. This study set out to explore the perspectives of people dealing with a genetic condition regarding HGGE, and the possible sensitivities surrounding this topic. We conducted a 2-phase qualitative interview (N = 29) and focus group study (N = 9) on the perspectives of people with or carrying a genetic condition and family members regarding HGGE. Insights from the interviews were used in the organization of the focus groups. We included 38 persons who have experiences with 18 different genetic conditions. Three main themes were identified: personal deliberation on HGGE, HGGE in the context of reproductive decision making and the impact of HGGE on society. Participants stated discussing the topic was controversial, complicated and overwhelming. An informal setting with peer support helped them to process their thoughts and feelings. This study found three main conclusions. First, the perspectives on HGGE are highly influenced by the perception of a genetic condition as a burden or as part of an identity. Secondly, in the deliberation on HGGE, many participants experienced a conflict between accepting a genetic condition and taking action to mitigate potential harm. Thirdly, the subject and object of the deliberation on HGGE mattered: for whom and what for? Moreover, this study has yielded pragmatic recommendations to accommodate sensitivities around discussing HGGE.
Co-designing 'gene', a smartphone app for genetics education and empowerment with and for the British Pakistani community: a methodological summary of the GENE-Ed project.
Gasteiger N, Davies A, Khan N … +4 more , Vercell A, Dowding D, Ali SM, Davies AC
J Community Genet · 2025 Jun · PMID 40220106 · Full text
INTRODUCTION: A lack of culturally appropriate genetic information prevents the British Pakistani community from engaging with genetic services. The GENE-Ed project focussed on the development of an educational app with...
INTRODUCTION: A lack of culturally appropriate genetic information prevents the British Pakistani community from engaging with genetic services. The GENE-Ed project focussed on the development of an educational app with and for the Pakistani community. A secondary aim was understanding how to engage the community in research. METHODS: We used an iterative co-design and co-creation approach including four phases to develop the Gene app. Phase 1 included seven interviews with community members to explore genetics understanding and define the requirements. Phase 2 included reviewing smartphone apps and research on digital patient-facing interventions for genetics understanding. Phase 3 included developing the app and obtaining initial feedback. In Phase 4, feedback was obtained from five community members using the System Usability Scale (SUS), a bespoke survey and observations. RESULTS: Four themes were identified in the interviews: current awareness of genetics; consanguinity, religion and cultural influence; presenting genetics information in a new digital resource and dissemination; information-sharing and uptake. The reviews highlighted an absence of culturally sensitive, accessible and evidence-based digital resources. Initial feedback included altering the animations and images within the app and simplifying the text. The mean SUS score was 87, indicating excellent usability. The written information, animations and videos were acceptable to participants, and they tended to trust the information in the app. During feedback, community members responded well to different methods but struggled with written open-ended survey questions. CONCLUSION: The co-design approach was essential to developing an acceptable resource for the British Pakistani community. Future clinical testing is needed.
Experience of people with Biochemical Genetic Disorders and their families accessing Genetic Counselling and Genetic Testing in the Irish Republic.
C A, Aj W, Dm L … +4 more , D B, V M, Sa L, Jj O'
J Community Genet · 2025 Oct · PMID 40175825 · Full text
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 o...
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.
The impact of supplementing traditional risk information with polygenic risk score concerning type 2 diabetes and coronary heart disease on health behavior: a randomized controlled trial.
Halmesvaara O, Lonna M, Kääriäinen H … +3 more , Perola M, Kristiansson K, Konttinen H
J Community Genet · 2025 Jun · PMID 40140145 · Full text
Polygenic risk scores (PRS) for different diseases are expected to become more widely available to the public in the coming decades. In addition to the investigation of the clinical relevance of polygenic risk scores, an...
Polygenic risk scores (PRS) for different diseases are expected to become more widely available to the public in the coming decades. In addition to the investigation of the clinical relevance of polygenic risk scores, an assessment of the health behavioral impact is needed. The present study used data from a personalized medicine project that combined genomic and traditional health data to evaluate respondents' risk for common diseases. Specifically, we investigated if supplementing traditional risk estimates of type 2 diabetes and coronary heart disease with PRS influenced respondents' self-reported physical activity, alcohol consumption, fruit/vegetable consumption or prompted the respondents to seek medical treatment/examination. As an exploratory hypothesis, we also tested if there was an interaction between the disease risk level and the experimental/control group for any of the outcomes. A randomized controlled trial was conducted, where the experimental group (n = 216 for seeking treatment and 523-459 for other outcomes) received risk estimates based on traditional risk and PRS, and the control group (n = 216 and 526-498) based solely on traditional risk factors. On average, approximately 80 days elapsed between the risk disclosure and outcome measurements. We found no significant difference between the groups regarding health behavior (ps > .28, ds < 0.07) or likelihood of seeking medical treatment/examination (p = .86, OR = 1.06). Likewise, no significant interactions were detected (ps > .08, ds < .11, ORs < 1.2). We conclude that we did not find support for either a beneficial or detrimental effect of supplementing traditional risk estimates with PRSs. However, several limitations should be noted when generalizing the results.
Genomics as part of Portuguese undergraduate nursing programs: are we moving in the right direction?
Silva MJ, Barbieri-Figueiredo MDC, Riper MV … +1 more , Paneque M
J Community Genet · 2025 Jun · PMID 40138080 · Full text
The integration of genomics into nursing education has been a growing focus in recent years, as the role of genomics in healthcare continues to expand. Although the fundamental role of nurses in integrating genomic infor...
The integration of genomics into nursing education has been a growing focus in recent years, as the role of genomics in healthcare continues to expand. Although the fundamental role of nurses in integrating genomic information into patient care is well-documented in the literature, studies have consistently highlighted significant gaps in nurses' understanding of these topics, impacting their ability to provide comprehensive care. This study aims to explore how genomic knowledge is taught in Portuguese undergraduate nursing education at a national level. A deductive content analysis was performed on explicit genomic content in each course specification within the nursing programs. A total of 478 course descriptions from 12 nursing programs were analyzed. Of these, only 25 courses (5.2%) explicitly referenced genomic content. Results reveal significant variability across programs, with some covering a considerable number of genetic topics, while others showed minimal or no coverage of genomic topics. Results also show that topics related to basic molecular biology and fundamental genetic principles tend to be more emphasized in nursing curricula compared to those focused on psychosocial aspects or patient-centered care. This inconsistency highlights the lack of a standardized approach to integrating genomics into nursing education. These findings suggest that the current approach to Portuguese nursing education is insufficient for preparing nurses to effectively address genomic issues in patient care and research. This research argues for a more systematic, early, and consistent integration of genomics across all nursing programs to ensure that future nurses are well-equipped to meet the challenges of modern healthcare, ultimately improving patient outcomes.
Albinism research in a Southern African setting: unique findings.
Kromberg JGR, Kerr RA
J Community Genet · 2025 Apr · PMID 40138079 · Full text
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...
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.
Stigmatisation experiences in families with hereditary conditions: an exploratory study.
Oliveira J, Mendes Á, Paneque M
J Community Genet · 2025 Dec · PMID 40131715 · Full text
Hereditary conditions can pose several challenges to the individual and their family members. In addition to the symptoms of the condition itself, stigmatisation is often described by those who live with hereditary condi...
Hereditary conditions can pose several challenges to the individual and their family members. In addition to the symptoms of the condition itself, stigmatisation is often described by those who live with hereditary conditions as a major challenge. This study explores the stigmatisation experiences of people with inherited conditions and their families in Portugal. Seventeen semi-structured interviews were conducted with individuals affected with a hereditary condition, asymptomatic carriers and family members, recruited through patient support organizations and social media. The data were analysed through inductive content analysis, resulting in three major categories: (i) stigmatisation contexts; (ii) psychosocial impacts; and (iii) coping strategies to deal with the stigma. The findings suggest the perception of stigma in family and social life, including specific contexts and systems such as academic, work, health care, social security and insurance. The stigma is associated with embarrassment, sadness, and frustration at the personal level, and with social impacts such as isolation, interpersonal distance, and avoidance of relationships. Participants often resort to providing explanations about their condition and to social isolation as a coping strategy for dealing with stigma. This study provides insights that reinforce the continuous need to raise awareness about hereditary conditions at a societal level and their associated impacts, to provide specific training for healthcare professionals on the potential stigma attached to inherited conditions, and to implement national strategies to reduce stigmatisation.
Identifying characteristics associated with genetic testing in the NICU.
Rumsey M, Malone-Jenkins S, Palmquist R … +5 more , Torre MP, Sdano MR, Baca A, Ling CY, Andoni L
J Community Genet · 2025 Jun · PMID 40117095 · Full text
Genetic testing is an integral part of Neonatal Intensive Care Unit (NICU) care. There are reported disparities in both NICU care and genetic testing related to race and language spoken. Identifying characteristics assoc...
Genetic testing is an integral part of Neonatal Intensive Care Unit (NICU) care. There are reported disparities in both NICU care and genetic testing related to race and language spoken. Identifying characteristics associated with genetic testing in NICUs could help detect patients who may benefit from genetic testing, as well as any current disparities. We sought to analyze characteristics of NICU admits who had genetic testing in general and specific test categories. Characteristics were requested from the Children's Hospital Neonatal Consortium database for patients admitted to Primary Children's Hospital's NICU in 2022. Statistical analysis was performed to determine if characteristics were more likely to result in genetic testing and if differences between those with genetic testing and those without were significant. All genetic test types were more likely ordered with genetic consultations. Cytogenetic testing was more likely in patients with a cardiology consult or who were Spanish-speaking. Patients who were of Hispanic origin were more likely to have molecular testing ordered. The average number of specialty consults for a patient was higher for those with genetic testing. Premature and low birthweight infants had longer time to genetic test ordering. No disparities were identified, which could be due to a small, homogenous sample. The differences with Spanish-speaking patients and those with mothers of Hispanic origin could be due to many factors, including consenting practices. It may be difficult to identify infants who might need genetic testing when they are low birthweight and/or premature. It is important to continue monitoring for differences in ordering practice for this vulnerable population.
Developing a questionnaire to explore lay people's preferences for communicating hereditary conditions within families: insights from a cognitive interview study.
Godino L, Battistuzzi L, Varesco L … +4 more , Turchetti D, Gentili V, Chiari P, Palese A
J Community Genet · 2025 Jun · PMID 40102291 · Full text
Cognitive interviews are a valuable qualitative method for developing and refining survey instruments, particularly on complex topics such as genetic health. They help address misunderstandings between intended meanings...
Cognitive interviews are a valuable qualitative method for developing and refining survey instruments, particularly on complex topics such as genetic health. They help address misunderstandings between intended meanings and respondent interpretations, enhancing data validity and ensuring comprehensibility. This study aimed to refine a questionnaire exploring the attitudes and preferences of the Italian general population regarding the communication of potential hereditary conditions within families. Through iterative testing, issues related to questionnaire instructions, question wording, and the sensitive nature of the topics were identified and addressed. Most concerns emerged in the first round of cognitive interviews, while the second round only required minor refinements. The qualitative analysis identified four key themes reflecting participants' challenges in understanding genetic information: (1) difficulties with genetic terminology, including gene names and scientific jargon, which induced anxiety and hindered comprehension; (2) ambiguities surrounding the terms "genetic testing" and "family," with confusion about the nature of genetic testing and the scope of "family" in genetic contexts; (3) misinterpretations of "genetic risk" as an existing disease diagnosis rather than a probabilistic concept, leading to misunderstandings about the implications of genetic predisposition; and (4) conflation of "authorization" and "responsibility" in genetic communication, further complicated by uncertainty regarding privacy and confidentiality. Findings from this study informed targeted modifications to the questionnaire to enhance its clarity and accessibility. Our study highlights the importance of cognitive interviewing in refining survey tools on genetic communication, ensuring that such instruments effectively capture public perceptions and facilitate informed decision-making.
"Hope at a better chance": perspectives on genetic counseling and testing among black individuals with prostate cancer.
Prindeville B, Szymaniak BM, Greenberg SE … +3 more , Murphy AB, Ross AE, Duquette D
J Community Genet · 2025 Jun · PMID 40095207 · Full text
Black individuals have the highest prostate cancer (PCa) incidence and mortality rates of any racial or ethnic group. Racial disparities persist in the understanding and uptake of genetics services, while the perspective...
Black individuals have the highest prostate cancer (PCa) incidence and mortality rates of any racial or ethnic group. Racial disparities persist in the understanding and uptake of genetics services, while the perspectives of Black individuals with PCa regarding genetic counseling and germline genetic testing for inherited cancer risk (GC/GT) remains understudied. This qualitative study explored attitudes, facilitators, and barriers to awareness, interest, and uptake of GC/GT among Black individuals with PCa. Eight individuals who self-identified as African American and/or Black with a personal history of PCa participated in individual telephone interviews using a semi-structured interview guide. Interview transcripts were analyzed using both an inductive and deductive coding approach, constant comparison, and selective coding. Five major themes were identified: (1) uncertainty surrounding personal relevance of GC/GT, (2) family influence and impact of GC/GT, (3) healthcare providers and institutions as gatekeepers of GC/GT, (4) community identity, influence, and impact of GC/GT, and (5) systemic barriers to GC/GT exemplify larger structural constraints. A key finding was the influence of community, a collective identity among Black individuals and a desire to benefit the Black community, in motivating research participation and pursuit of GC/GT to lessen racial disparities in PCa. Individual, interpersonal, institutional, community, and structural factors are both barriers and facilitators to awareness, interest, and uptake of GC/GT. Multilevel interventions such as communicating personal, familial, and community implications of GC/GT, improving patient-provider relationships and genetics education, and addressing systemic barriers are necessary to increase efficacy, utility, and equity in GC/GT.
A qualitative study to evaluate the preparedness of community paediatricians for genomic medicine in England - ready for take-off?
Marlowe S, Hill M, Peter M … +1 more , Lewis C
J Community Genet · 2025 Jun · PMID 40072745 · Full text
Genomic medicine (GM) was mainstreamed across the National Health Service (NHS) in England in 2018. Non-genetics healthcare professionals can now incorporate genomic testing including whole genome sequencing (WGS) into t...
Genomic medicine (GM) was mainstreamed across the National Health Service (NHS) in England in 2018. Non-genetics healthcare professionals can now incorporate genomic testing including whole genome sequencing (WGS) into their clinical practice. This study was conducted to evaluate the preparedness of community paediatricians (CPs) for GM. Semi-structured interviews, using a topic guide informed by the Consolidated Framework for Implementation Research, were conducted with 17 CPs working in the NHS to explore issues related to preparedness and confidence. Data were analysed using thematic template analysis. The codebook included both inductive and deductive codes informed by the Capability, Opportunity and Motivation Behaviour model (COM-B), an implementation theory to explain behaviour change. The majority of participants perceived a net benefit from GM in terms of improving clinical management and information provision for patients and families and were receptive to using GM in their clinical practice. However, there was wide variation across trusts in CP preparedness for genomic medicine for reasons including lack of time and resources, notably workforce support. Many also lacked confidence in the skills required to deliver GM, and did not see GM as a priority. Most participants felt that they had access to GM education, but the main challenge was finding the time to engage with it. Strategies related to fiscal measures, enablement, training and education could help to address these early obstacles. Our findings may be relevant to clinicians in other non-genetic specialties integrating GM into their clinical practice not only in the UK NHS but more globally.
Preconception carrier screening in 2025: what's next? : A collection in the journal of community genetics.
Cornel MC
J Community Genet · 2025 Feb · PMID 40085407 · Full text
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Trusted partners, community priorities, and data protections: requirements for precision medicine research with Alaska Native peoples.
Woodbury RB, Beans JA, Hiratsuka VY
J Community Genet · 2025 Jun · PMID 40029587 · Full text
Precision medicine holds promise for improving health care by tailoring disease treatment and prevention efforts to the needs of individual patients. It also raises ethical questions related to equitable distribution of...
Precision medicine holds promise for improving health care by tailoring disease treatment and prevention efforts to the needs of individual patients. It also raises ethical questions related to equitable distribution of the benefits of precision medicine; data management, including the terms of data ownership, sharing, and security; and, the nature and extent of community engagement in and oversight of research. These questions are particularly salient for minoritized communities that have been harmed by unethical research practices and often deprived the full benefit of advances in medical science. Understanding the perspectives of these communities is essential to the design and conduct of ethical and effective precision medicine research. This study explored perspectives on the acceptability, feasibility, value, and benefits and harms of precision medicine research among Alaska Native and American Indian (ANAI) peoples. We conducted four focus groups with ANAI individuals who receive primary care from a Tribal health organization in Anchorage, Alaska. Participants were willing to engage in precision medicine research provided specific requirements were met. Research must be conducted by the Tribal health organization or another trusted partner, community health priorities must drive the research agenda, and researchers must employ robust data protections to guard against loss of data security and maintain control over data use and access. These requirements work collectively to ensure research benefits and respects Tribal sovereignty. These findings could help inform efforts to design and implement precision medicine research programs tailored to concerns of ANAI peoples.
1st Congress of Tunisian Society of Human Genomics, October 17-19, 2024, Sousse, Tunisia.
J Community Genet · 2025 Oct · PMID 40019649 · Full text
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