Journal Of Community Genetics[JOURNAL]
Sun
200 papers
Development of a digital risk-prediction tool based on family health history for the general population: legal and ethical implications.
Dijkstra T, Ploem MC, van Langen IM … +5 more , Sieperda BMY, Zaal J, Lucassen AM, Maeckelberghe ELM, Christiaans I
J Community Genet · 2025 Feb · PMID 39673579 · Full text
Cardiovascular diseases, both inherited and familial, indicate a risk of early and preventable cardiovascular events for relatives of affected individuals. A digital risk-prediction tool that enables general population i...
Cardiovascular diseases, both inherited and familial, indicate a risk of early and preventable cardiovascular events for relatives of affected individuals. A digital risk-prediction tool that enables general population individuals to evaluate their cardiovascular risk based on family health history could be a responsible approach to facilitate early detection and improve public health, but development and use of such a tool is not without legal and ethical requirements. At the start of tool development, experts addressed potential legal and ethical implications. Especially European Union (EU) regulations could present potential obstacles for the tool's development, broader availability and general use. A first example is that the EU General Data Protection Regulation does not allow the tool to collect health data about relatives without their consent; the alternative is data anonymisation. This requirement has major consequences for the tool's usefulness and raises ethical concerns about who 'the owner' is of family data. A second example is related to the EU's Medical Device Regulation: if software generates health risks or provides medical advice, it requires a CE mark from a 'notified body', an extensive and costly procedure. In this article, we describe these implications in more detail and discuss possible solutions. To conclude, alongside national law, European law can impact on the development of digital tools that collect family health data to provide information on health risks. We recommend including experts in law and ethics in developmental stages of such tools which are likely to become more frequent in routine public care.
Basic and translational research in rare diseases in low- and middle-income countries: challenges and solutions.
Rodrigues G, Poletto E, E Vairo FP … +1 more , Baldo G
J Community Genet · 2025 Aug · PMID 39671061 · Full text
In this document, we discuss the main difficulties faced by investigators in low- and middle-income countries (LMICs) and propose potential solutions. Challenges include the scarcity of experts in rare disorders, higher...
In this document, we discuss the main difficulties faced by investigators in low- and middle-income countries (LMICs) and propose potential solutions. Challenges include the scarcity of experts in rare disorders, higher costs of supplies, underfunding, and limited patient advocacy groups. Establishing collaborations among patient advocacy groups, governments, investigators, and other stakeholders to create action plans can address many of these issues and promote research into rare diseases.
Birth defects reporting and surveillance in India: a narrative review.
Kar A
J Community Genet · 2025 Feb · PMID 39652147 · Full text
Mortality attributable to birth defects (congenital anomalies, congenital disorders) is increasing in low and middle-income countries, including India. Surveillance is essential to inform strategies to address these diso...
Mortality attributable to birth defects (congenital anomalies, congenital disorders) is increasing in low and middle-income countries, including India. Surveillance is essential to inform strategies to address these disorders. The objective of this narrative review was to document the birth defects surveillance/reporting systems in India, their current status, structures and reporting formats. The review used empirical analysis of retrieved literature to answer the framed research questions. Publications on birth defects surveillance in India was negligible. Website searches yielded information on two surveillance systems. The WHO South East Asia Region-Newborn-Birth Defects (SEAR-NBBD) surveillance for congenital disorders uses a non-representative sample of hospitals to conduct passive surveillance for eight congenital anomalies. The system has a hierarchy of quality control measures to assure data accuracy. The second system is a child screening and early intervention service (the Rashtriya Bal Swasthya Karyakram, RBSK), which reports data on nine birth defects among children screened at birth, in the first six weeks of life, and till 18 years of age. The RBSK uses existing community-based staff and competency-appropriate screening tools that incorporate defined referral routes to secondary or tertiary level of care. Data from neither of these systems is available in the public domain. The review identified that the strengths and weaknesses of both these systems can be utilized to put in place a potentially sustainable sentinel surveillance for monitoring birth defects in India.
Identifying key factors for recurrence of genetic disorder: insights from Indian families with multiple affected children.
Menon K, Agarwal V
J Community Genet · 2025 Feb · PMID 39614980 · Full text
This study investigates the factors contributing to the recurrence of severe genetic conditions in multiple children of the same couple, focusing on a cohort of 26 families who had more than one child affected by the sam...
This study investigates the factors contributing to the recurrence of severe genetic conditions in multiple children of the same couple, focusing on a cohort of 26 families who had more than one child affected by the same genetic disorder. Conducted at a genetic clinic in India, the study employed a qualitative methodology guided by COREQ guidelines, using semi-structured interviews to explore the interplay of individual beliefs, healthcare provider practices, and systemic healthcare inefficiencies. The interviews were transcribed and analyzed using a combination of content analysis and grounded theory, which allowed for the identification of recurrent themes and emerging ideas. The study found that strong religious and cultural beliefs often led families to disregard medical advice, contributing to the recurrence of genetic conditions. Additionally, significant gaps in healthcare provider knowledge and inadequate reproductive counseling were identified as critical barriers to timely diagnosis and prevention of recurrence. Another major theme was the inherent complexities of genetic diseases and genetic testing, where variable expression of conditions, delayed symptom onset, and limitations of genetic tests themselves often prevented early diagnosis and intervention. This research highlights the need for improved genetic literacy among healthcare providers, culturally sensitive counseling, and better integration of genetic services into the broader healthcare system. By addressing these barriers, the risk of recurrence can be significantly reduced, improving patient outcomes and family well-being. This study is one of the few in India to analyze such factors and underscore the critical need for targeted interventions at multiple levels.
Motivations, perceptions and impacts of direct-to-consumer genetic testing among users in Brazil.
Penna LS, Amemiya RB, Pires T … +6 more , Bonasser LSS, Carvalheira L, Fridman C, Mingroni-Netto RC, Naslavsky MS, di Lazzaro Filho R
J Community Genet · 2025 Aug · PMID 39601966 · Full text
Numerous studies have focused on direct-to-consumer genetic testing (DTC-GT), but little is known about consumers outside North America and Europe. Therefore, this study assesses the sociodemographic profile, motivations...
Numerous studies have focused on direct-to-consumer genetic testing (DTC-GT), but little is known about consumers outside North America and Europe. Therefore, this study assesses the sociodemographic profile, motivations, and impacts of DTC-GT among Brazilian consumers. DTC-GT customers were invited to complete a 30-question online survey anonymously. Descriptive statistics and Chi-Square tests were used to analyze the data, with significant findings analyzed using post-hoc and correspondence analysis. This study comprised 1513 Brazilian DTC-GT consumers with a mean age of 42 years old and mostly female (60.8%). Participants' primary motivation for purchasing the test was to learn about their genetic predispositions to diseases (87.2%) followed by biogeographical ancestry (86.2%). Fewer than 20% of respondents reported consulting a healthcare professional due to the test results (18.4%), and most consumers felt confident in independently understanding the test results (66.9%), which was significantly associated with Health/Biological Sciences professional field (p < 0.001). Additionally, many customers felt glad (63.3%), and few felt worried after receiving their results (13.4%), particularly concerning health outcomes. Lifestyle changes included dietary adjustments (38.7%), regular health check-ups (24.2%) and increased physical activity (16.5%). Overall, 64.0% of respondents reported altering habits following test results. These findings contribute to understanding the motivations and impacts of DTC-GT among Brazilian consumers, indicating positive lifestyle changes and limited negative psychological impacts.
Knowledge and attitudes towards genomic medicine and pharmacogenomics of medical undergraduate students in Sri Lanka: a cross-sectional study.
Kekulandara DN, Wickramarachchi MS
J Community Genet · 2025 Feb · PMID 39589704 · Full text
Genomic medicine and pharmacogenomics (PGX) are emerging practices in medicine that play a vital role in providing personalized and efficient treatments for patients. While many countries have integrated these novel conc...
Genomic medicine and pharmacogenomics (PGX) are emerging practices in medicine that play a vital role in providing personalized and efficient treatments for patients. While many countries have integrated these novel concepts into their undergraduate medical curricula to enhance the quality of healthcare, Sri Lanka remains relatively new to these advancements. Herein, we accessed the knowledge and attitude of Sri Lankan medical undergraduates on genomic medicine and PGX and explored the readiness of introducing genomic insights to Sri Lankan undergraduate medical education. The study sample was the undergraduate students of Medical Faculty of Wayamba University in Sri Lanka, being a newly developed and diverse institution seeking research findings to enhance the curriculum and teaching-learning activities aiming to produce competent graduates. A descriptive cross-sectional study was conducted by distributing a questionnaire to all five student batches at Faculty of Medicine, Wayamba University of Sri Lanka. The data of 232 respondents (55% response rate), demonstrated a good level of knowledge on genomic medicine and PGX, with no significant variation of the level of knowledge across the five academic years. A nuanced range of attitudes, encompassing both negative and positive perspectives towards genomic medicine and PGX was observed varying according to the specific questions posed. However, heavy concerns regarding data privacy, insurance implications, and the timing of implementation appeared. The results of the study highlight a need for curriculum enhancement, acknowledging the level of knowledge while emphasizing areas for improvement in students' perspectives on genomic medicine and PGX for better advancements in future healthcare of Sri Lanka.
Prevalence of HLA-B*58:01 allele among Malay, Chinese and Indian ethnic patients with gout attending primary care clinics in Malaysia.
Ng WL, Kee BP, Hussein N … +13 more , Ng CJ, Kuan SW, Mohd Zaidan FZ, Azmi SUF, Then SM, Kwan Z, Qureshi N, Lim JR, Wong LY, Lee YK, Abdul Malik TF, Gunasekaran R, Low DE
J Community Genet · 2025 Feb · PMID 39586937 · Full text
HLA-B*58:01 allele is associated with allopurinol-induced severe cutaneous reaction (SCAR). Malaysia has a multiethnic population with limited data on the prevalence of HLA-B*58:01 among patients with gout treated in pri...
HLA-B*58:01 allele is associated with allopurinol-induced severe cutaneous reaction (SCAR). Malaysia has a multiethnic population with limited data on the prevalence of HLA-B*58:01 among patients with gout treated in primary care settings. This cross-sectional study aimed to determine the prevalence of HLA-B*5801 in patients with gout from the Malay, Chinese and Indian ethnicities attending primary clinics in Malaysia.We collected blood samples from patients with gout attending three primary care clinics in Klang Valley, Malaysia, using convenience sampling. Genomic DNA samples were subjected to typing of HLA-B*5801 by a multiplex probe-based assay in a real-time PCR system, validated by PCR-resequencing approach.547 patients (194 Malay, 266 Chinese and 87 Indian) were recruited. The overall prevalence of HLA-B*58:01 was 16.8% (Chinese 21.8%, Indian 12.6% and Malay 11.9%). None of our 61 HLA-B*58:01 carriers who ever used allopurinol developed SCAR.The overall prevalence of HLA-B*58:01 allele in our patients with gout was high, particularly among the Chinese ethnicity (21.8%). None of our HLA-B*58:01 positive patients treated with allopurinol reported allopurinol-induced SCAR. A more accurate predictive model for allopurinol-induced SCAR is needed.
Engaging communities: A scoping literature review of community-based participatory research in genetics service delivery settings.
Zierhut HA, Kandikonda P, Simon EM … +5 more , Donarski C, Kocher M, Ramírez M, Lumpkins CY, Fisher ER
J Community Genet · 2024 Dec · PMID 39586936 · Full text
Genetic counseling (GC) services have the potential to improve health outcomes, yet there are documented disparities in the use of GC services among minoritized racial/ethnic populations. Community-based participatory re...
Genetic counseling (GC) services have the potential to improve health outcomes, yet there are documented disparities in the use of GC services among minoritized racial/ethnic populations. Community-based participatory research (CBPR) is an approach to integrate diverse patient perspectives to improve GC services. The objective of this review was to assess the current state of international CBPR within GC and genetics services from 2006 to 2023. Five databases were searched for inclusion criteria: 1) published in 2006 or later; 2) peer-reviewed publication; 3) primary research studies; 4) community-based AND participatory research; 5) focused on GC, clinical genetics, testing, and/or genetic service delivery. Criteria for evaluating CBPR involvement used a synthesis of best processes framework. Screening of 3,824 studies identified 16 papers (n = 12 qualitative; n = 1 quantitative; n = 3 mixed methods). The majority of studies were conducted within the U.S. (n = 12), focused on cancer (n = 5), involved the Asian/Pacific Islander community (n = 8), and centered around genetic education (n = 12). Community partners most frequently were involved in recruitment (n = 12) and results analysis (n = 12) and least involved in research question development (n = 7) and product creation (n = 6). Studies varied substantially in the integration of 9 CBPR gold standard principles with only three studies addressing all nine principles. Few CBPR projects in GC services exist and a lack of guidelines to assess the quality of CBPR methodologies hindered the appraisal of studies. CBPR represents a promising approach to improve GC services and should be explored by genetics service delivery researchers.
Population molecular genetics in Brazil: From genomic databases and research to the implementation of precision medicine.
de Oliveira TC, Lopes-Cendes I
J Community Genet · 2025 Aug · PMID 39557816 · Full text
Precision medicine (PM) stands on the brink of revolutionizing medical practice throughout the world, holding significant potential for enhancing patient outcomes. However, its practical implementation, particularly in r...
Precision medicine (PM) stands on the brink of revolutionizing medical practice throughout the world, holding significant potential for enhancing patient outcomes. However, its practical implementation, particularly in resource-limited countries, is not without challenges. The success of PM largely hinges on the availability of extensive datasets, including genetic and genomic information. This paper delves into the PM landscape and the current state of genetic and genomic testing in Brazil. We also shed light on the unique challenges posed by the country's diverse population and discuss ongoing initiatives to tackle these obstacles.
Knowledge and perception of medical students on genetics in the genomic era.
Morales-Rios LC, Ramírez-Aranda JM, Martínez de Villarreal LE … +1 more , Ibarra-Ramírez M
J Community Genet · 2025 Feb · PMID 39549231 · Full text
The importance of medical genetics in modern healthcare underscores the urgent need for comprehensive genetics education for physicians. Such training should address both fundamental concepts and ethical considerations t...
The importance of medical genetics in modern healthcare underscores the urgent need for comprehensive genetics education for physicians. Such training should address both fundamental concepts and ethical considerations to bridge existing knowledge gaps and improve early diagnostic capabilities. In Latin America, the level of genetic knowledge among healthcare workers, particularly medical students, remains largely unexplored. This study evaluates the knowledge and attitudes toward genetic testing among final-year medical students at a public university in Monterrey, Mexico. Using a cross-sectional, observational, and anonymous survey design, the International Genetic Literacy and Attitudes Survey version 3 (iGLAS3) was administered from October 1, 2019, to August 16, 2020. This online survey collected demographic information, assessed genetic knowledge, and gauged opinions on genetic topics, focusing on items most relevant to our research objectives. Statistical analyses provided descriptive statistics and measures of central tendency. Of the 323 surveys distributed, 201 participants completed essential sections, revealing a moderate to high level of genetic knowledge, with an average score of 70 ± 11.5. The demographic profile included 58.7% women, 40.3% men, and 0.5% non-binary individuals, with an average participant age of 24 years. A majority of participants expressed openness to genetic testing, primarily through private entities; however, significant concerns about the potential misuse of genetic data were noted. These findings underscore the necessity of enhancing genetic education and incorporating practical genetics training into medical curricula to meet the evolving challenges in this field effectively.
Key challenges in developing a gene therapy for Usher syndrome: machine-assisted scoping review.
Bhat R, Nallamothu B, Shethia F … +2 more , Chhaya V, Khambholja K
J Community Genet · 2024 Dec · PMID 39549230 · Full text
Despite compelling empirical evidence demonstrating its efficacy, gene therapies for usher syndrome (USH) are not yet available for the patient's usage. This scoping review assessed the current scenario and analysed the...
Despite compelling empirical evidence demonstrating its efficacy, gene therapies for usher syndrome (USH) are not yet available for the patient's usage. This scoping review assessed the current scenario and analysed the challenges in implementing gene therapies for USH. A literature search was conducted using PubMed and Google Scholar through an artificial intelligence (AI) tool, MaiA, focusing on relevant publications from the last 10 years. We followed the methodological guidance of the Joanna Briggs Institute (JBI) and adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses for Scoping Reviews (PRISMA-ScR) checklist. Of 517 records, 51 reports were considered for final analysis. It identified and categorized challenges across four key areas: preclinical, clinical, economic, and regulatory. Of all, many reports (30) highlighted the preclinical challenges where the USH gene development process encountered roadblocks. Specifically, preclinical challenges included the lack of suitable in-vivo models and effective delivery methods. Clinical challenges focused on establishing clear endpoints and long-term safety and efficacy. Economic challenges addressed diagnostic issues and manufacturing hurdles, while regulatory challenges focused on expedited evaluation processes and guidance for clinical development. Our analysis uncovered key barriers to clinical translation of USH gene therapy and strategies to address them. Researchers are employing innovative approaches, including novel delivery methods such as minigenes and nanoparticles, inventive clinical trial designs, cohesive regulatory frameworks, strategic market assessments, and collaborative research initiatives. These efforts hold promise for impactful disease-cure and modifying interventions ultimately enhancing the quality of life for USH patients.
Key contextual factors involved with participation in medical and genomic screening and research for African American and White Americans: a qualitative inquiry.
Smith CL, Stark BC, Kobalter M … +5 more , Barks MC, Nakano-Okuno M, Romesburg EW, Limdi N, May T
J Community Genet · 2024 Dec · PMID 39495399 · Full text
Tremendous progress has been made promoting diversity in recruitment for genomic research, yet challenges remain for several racial demographics. Research has cited intertwined fears of racial discrimination and medical...
Tremendous progress has been made promoting diversity in recruitment for genomic research, yet challenges remain for several racial demographics. Research has cited intertwined fears of racial discrimination and medical mistrust as contributing factors. This study aimed to identify key factors to establishing trust in medical and genomic screening and research among African Americans and White Americans. Participants completed online focus groups and resulting transcripts were analyzed using a qualitative descriptive approach, with content analysis methods based on recommendations by Schreier. Fifteen African Americans and twenty-three White Americans participated in the study, 63% of which were female. The mean age of participants was 38.5 (SD = 16.6). The Overarching Theme of Trust is Context Dependent was identified, along with the following five themes describing elements influencing trustworthiness for our participants: (1) Professional Experience, Education, and Training Bolster Trust; (2) Trust Depends on Relationships; (3) Cross-checking Provided Information is Influential in Establishing Trust; (4) Trust is Undermined by Lack of Objectivity and Bias; and (5) Racism is an Embedded Concern and a Medical Trust Limiting Component for African Americans. To effectively address mistrust and promote recruitment of diverse participants, genomic research initiatives must be communicated in a manner that resonates with the specific diverse communities targeted. Our results suggest key factors influencing trust that should be attended to if we are to promote equity appropriately and respectfully by engaging diverse populations in genomic research.
Factors influencing pregnant women's decision to accept or decline prenatal screening and diagnosis - a qualitative study.
Ternby E, Axelsson O, Ingvoldstad Malmgren C … +1 more , Georgsson S
J Community Genet · 2024 Dec · PMID 39485622 · Full text
BACKGROUND AND OBJECTIVE: Prenatal diagnosis for chromosomal anomalies is frequently used worldwide. It is important that pregnant women receive adequate counselling to make informed decisions regarding prenatal diagnos...
BACKGROUND AND OBJECTIVE: Prenatal diagnosis for chromosomal anomalies is frequently used worldwide. It is important that pregnant women receive adequate counselling to make informed decisions regarding prenatal diagnosis. The aim of this study was to explore what factors influence pregnant women's decision-making process when accepting or declining prenatal screening and diagnosis. Methods: A qualitative study using inductive qualitative content analysis. Individual, semi-structured phone interviews were carried out during a five-month period in 2016-2017 with 24 pregnant women in the first trimester, living in a medium-sized Swedish city. FINDINGS: Two main themes emerged: (1)"Individual factors - The women's experiences, perceptions and values" with three categories "Attitude towards anomalies", "Worry and need for reassurance", "Self-perceived risk" and (2)"External factors - The women's perception of the test and others' views" with two categories "Test characteristics" and "Influence from others". Conclusions: Pregnant women's decision-making process regarding prenatal tests is multidimensional, affected by both individual factors such as experiences, perceptions and values, and external factors such as test characteristics and influence from others. Information about both test characteristics and the conditions tested is of help pregnant women in the decision-making process since it provides a better understanding of how having a child with the condition in question can affect them and their family. It is important that healthcare professionals giving information about and offering prenatal tests for chromosomal anomalies are aware of how their attitudes can influence women's decisions.
Correction: Improving the communication of multifactorial cancer risk assessment results for different audiences: a co-design process.
Donoso FS, Carver T, Ficorella L … +7 more , Fennell N, Antoniou AC, Easton DF, Tischkowitz M, Walter FM, Usher-Smith JA, Archer S
J Community Genet · 2024 Oct · PMID 39453577 · Full text
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Acceptability of dried blood spot collection by primary caregivers of Filipino patients with maple syrup urine disease (MSUD) and phenylketonuria (PKU).
Merencilla RJE, Maceda EBG, Basas JRU … +4 more , Adducul RTY, Francisco ML, Licudo JV, de Castro-Hamoy LG
J Community Genet · 2024 Dec · PMID 39414728 · Full text
MSUD and PKU require lifetime management hence, regular monitoring of amino acid levels is needed to achieve good metabolic control. Ideally, plasma amino acid analysis (PLAA) is used to monitor concentrations but is exp...
MSUD and PKU require lifetime management hence, regular monitoring of amino acid levels is needed to achieve good metabolic control. Ideally, plasma amino acid analysis (PLAA) is used to monitor concentrations but is expensive and not widely available in local laboratories. The newborn screening program in the Philippines uses dried blood spot (DBS) analysis as an alternative where only trained healthcare providers are allowed to perform the collection at selected facilities. With the increasing number of patients, DBS monitoring has been noted to be delayed due to multiple factors. This issue became even more evident during the COVID-19 pandemic where high-risk patients need to travel outside for blood collection. The study used a cross-sectional study design to determine the primary caregivers' perspective on DBS self-sampling for patients with MSUD and PKU and the acceptability of the samples collected. This was done through a series of collection training, pre-/post- surveys, and 10-item questionnaire, and an in-depth 1-on-1 interview for thematic analysis. The acceptability of samples was processed and evaluated by the newborn screening laboratory. At-home DBS collection by primary caregivers was found to be acceptable. The provision of knowledge and routine collection training by the medical team aids in the increase of sample acceptability as well as a source of empowerment in being equipped to take care of their child. It is highly recommended that DBS samples collected by caregivers be considered acceptable for more time and cost-saving monitoring of the patients' metabolites. This practice also promotes timely and appropriate management which can lead to better patient health outcomes.
Opportunities and challenges for identifying undiagnosed Rare Disease patients through analysis of primary care records: long QT syndrome as a test case.
Evans W, Akyea RK, Simms A … +2 more , Kai J, Qureshi N
J Community Genet · 2024 Dec · PMID 39405009 · Full text
BACKGROUND: Patients with rare genetic diseases frequently experience significant diagnostic delays. Routinely collected data in the electronic health record (EHR) may be used to help identify patients at risk of undiagn...
BACKGROUND: Patients with rare genetic diseases frequently experience significant diagnostic delays. Routinely collected data in the electronic health record (EHR) may be used to help identify patients at risk of undiagnosed conditions. Long QT syndrome (LQTS) is a rare inherited cardiac condition associated with significant morbidity and premature mortality. In this study, we examine LQTS as an exemplar disease to assess if clinical features recorded in the primary care EHR can be used to develop and validate a predictive model to aid earlier detection. METHODS: 1495 patients with an LQTS diagnostic code and 7475 propensity-score matched controls were identified from 10.5 million patients' electronic primary care records in the UK's Clinical Practice Research Datalink (CPRD). Associated clinical features recorded before diagnosis (with p < 0.05) were incorporated into a multivariable logistic regression model, the final model was determined by backwards regression and validated by bootstrapping to determine model optimism. RESULTS: The mean age at LQTS diagnosis was 58.4 (SD 19.41). 18 features were included in the final model. Discriminative accuracy, assessed by area under the curve (AUC), was 0.74, (95% CI 0.73, 0.75) (optimism 6%). Features occurring at significantly greater frequency before diagnosis included: epilepsy, palpitations, syncope, collapse, mitral valve disease and irritable bowel syndrome. CONCLUSION: This study demonstrates the potential to develop primary care prediction models for rare conditions, like LQTS, in routine primary care records and highlights key considerations including disease suitability, finding an appropriate linked dataset, the need for accurate case ascertainment and utilising an approach to modelling suitable for rare events.
Feasibility of an environmental scan-based approach to collecting information about factors impacting cancer genetics services in Latin American countries.
Bednar EM, Nitecki Wilke R, Jorgensen K … +13 more , Walsh MT, Nutt S, Lu KH, Nóbrega L, De Souza APSD, da Silva Oliveira G, da Cunha Andrade CEM, Purizaca-Rosillo N, Mora P, López Blanco A, Gallardo-Alvarado LN, Cantú-de León D, Rauh-Hain JA
J Community Genet · 2024 Dec · PMID 39397225 · Full text
OBJECTIVE: Clinical cancer genetics services are expanding globally, but national policy and health care systems influence availability and implementation. Understanding the environmental factors within a country is requ...
OBJECTIVE: Clinical cancer genetics services are expanding globally, but national policy and health care systems influence availability and implementation. Understanding the environmental factors within a country is required to appropriately implement, adapt, and evaluate cancer genetics service delivery models. An environmental scan (ES) is an approach used in business, public health, health care and other sectors to collect information about an environment or system for strategic decision making and program planning. An ES has been previously used to assess cancer genetics clinic-level factors to inform quality improvement efforts in the United States. We assessed the feasibility of using an ES to collect information about factors that may influence cancer genetics service delivery in the outer-most socio-ecological model environmental levels (policy, national agencies, healthcare systems, cultural considerations) in three Latin American countries. METHODS: Oncology and Genetics care team members at three participating sites used publicly available sources and personal experiences to complete a data collection form (DCF) that included questions about subtopics: laws and policies, relevant agencies and regulations, health care systems and insurance, and cultural considerations. Time to complete the DCF and DCF completeness were used to measure ES feasibility. RESULTS: Participating sites completed the DCF in 3 months, and most questions (average, 87.0%) were answered. Questions in the cultural considerations subtopic had the fewest answers (average, 77.8%). CONCLUSIONS: Overall, the ES was feasible and identified a lack of published literature related to cultural considerations impacting health care and genetics services uptake in Latin America. Environmental factors impact cancer genetics services, and identification of these factors will facilitate future collaborative research and genetics service delivery dissemination efforts.
Knowledge, attitude and acceptance regarding bone marrow transplantation in caregivers of beta-thalassemia major patients.
Jayaram PR, Devadas S, Jain P … +1 more , Devi C G
J Community Genet · 2024 Dec · PMID 39392570 · Full text
OBJECTIVE: Knowledge, Attitude, and Acceptance regarding Bone marrow transplantation in caregivers of beta-thalassemia major patients. METHODS: A cross-sectional study was conducted among the caregivers of pediatric pati...
OBJECTIVE: Knowledge, Attitude, and Acceptance regarding Bone marrow transplantation in caregivers of beta-thalassemia major patients. METHODS: A cross-sectional study was conducted among the caregivers of pediatric patients with betathalassemia major in blood transfusion centres in Bangalore, India. Their knowledge, attitude, and acceptance regarding bone marrow transplantation were assessed using a validated questionnaire. The study aimed to identify factors that influence caregivers' decision about bone marrow transplantation. RESULTS: The knowledge, attitude, and acceptance of the caregivers towards bone marrow transplantation are shown to depend on gender, education and socio-economic status. The results of this study reveal that male caregivers generally exhibited higher levels of knowledge and had a better attitude towards it as compared to their female counterparts. Higher education and socio-economic status were associated with better knowledge, more favourable attitudes and a higher acceptance towards the procedure.
Spinal muscular atrophy carrier screening program: awareness and attitude of healthcare professionals in Turkey.
Celik KM, Kose CC, Kaya D … +2 more , Tekin K, Silan F
J Community Genet · 2024 Dec · PMID 39392569 · Full text
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease caused by variants in the SMN1 gene, leading to progressive muscle weakness. The carrier frequency of SMN1 gene variants, including variant and copy number...
Spinal Muscular Atrophy (SMA) is an autosomal recessive disease caused by variants in the SMN1 gene, leading to progressive muscle weakness. The carrier frequency of SMN1 gene variants, including variant and copy number variations, is estimated to be around 1 in 50 people, while the global prevalence of SMA is 1-3 per 10,000 live births. In response to the increasing carrier proportion, especially due to consanguineous marriages, Turkey launched the SMA Carrier Screening Program in 2021. Notably, recent SMA cases have been observed in the children of healthcare workers who did not undergo carrier screening, prompting us to evaluate their awareness of this program. After receiving ethics approval, 1,322 healthcare professionals completed a 15-item survey based on the SMA Carrier Screening Guidelines. Of these, 5.8% were unaware of SMA, and 26% lacked information about the national screening program. Awareness of the screening program was significantly lower among secondary and tertiary healthcare professionals compared to primary healthcare professionals (p < 0.0001) and among non-physician healthcare professionals compared to physicians (p < 0.0001). Additionally, a serious lack of knowledge was observed concerning the parts of the screening covering the pregnancy period. Although there is generally high awareness of the SMA Carrier Screening Program among healthcare professionals, significant knowledge gaps exist. These findings highlight the need for increased efforts to more effectively deliver screening programs and continue the education of healthcare professionals. Education and awareness campaigns can enhance program awareness and effectiveness, reach wider audiences, and contribute to preventive measures for the health of future generations.
Do not overlook the possibility of genome-edited somatic cells ending up in the human germline.
Chin AHB, Sun N
J Community Genet · 2024 Dec · PMID 39382831 · Full text
Most debates on human germline genome editing have limited discussions to just genetic modifications of sperm and eggs (gametes), their precursors within testicular or ovarian tissues, and preimplantation human embryos....
Most debates on human germline genome editing have limited discussions to just genetic modifications of sperm and eggs (gametes), their precursors within testicular or ovarian tissues, and preimplantation human embryos. What has largely been overlooked is that genome editing of somatic (non-reproductive) cells can also become heritable and can potentially be transmitted to future generations of human offspring under specific experimental conditions, due to the emergence of various new technology platforms. Most notably, the reprogramming of human somatic cells to a pluripotent "embryonic stem cell-like" state (i.e. induced pluripotent stem cells), has opened up the possibility that genome editing performed on human somatic cells can also be transmitted to future generations of human offspring when combined with other new technology platforms, such as in vitro gametogenesis, chimeric and synthetic embryos. Additionally, due to high levels of plasticity and extensive tissue remodeling within the human fetus during gestation, it is speculated that genome editing performed on fetal somatic cells intended for fetal gene therapy in utero may be unintentionally transmitted to the human germline. Hence, there should be strict regulatory oversight to ensure that any genome-edited somatic cell that ends up in the human germline via such aforementioned technology platforms does so in strict compliance with relevant legislation and ethical guidelines, especially that pertaining to safety issues with genome editing technology and its potential misuse in human enhancement and eugenics.
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