Pub Date : 2024-10-09DOI: 10.1007/s12687-024-00741-8
Alexis Heng Boon Chin, Ningyu Sun
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.
{"title":"Do not overlook the possibility of genome-edited somatic cells ending up in the human germline.","authors":"Alexis Heng Boon Chin, Ningyu Sun","doi":"10.1007/s12687-024-00741-8","DOIUrl":"https://doi.org/10.1007/s12687-024-00741-8","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142394191","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-07DOI: 10.1007/s12687-024-00736-5
Felicia Russo, Debanjana Chatterjee, Natalia DeMaria, Michelle E Florido, Maddalena Marasa, Maya Sabatello, Julia Wynn, Hila Milo Rasouly
DNA-based population screening for adult-onset diseases holds promise for advancing personalized medicine and improving public health. Yet as most individuals pursuing such screening receive negative results, the return of results process must ensure that negative results and their implications are clearly understood. We explored the experiences of adults who received negative results from such screening as part of the Electronic Medical Records and Genomics consortium Phase 3 project (eMERGE-3) at Columbia University. In addition to a laboratory report and a standard counseling letter explaining the negative results, participants were randomized to receive (or not) a vignette explaining the results. A diverse cohort of 437 adult participants completed both baseline and post-result surveys. Many participants reported motivations that did not match the screening goals and included hope for diagnosis and family disease risk. A quarter of participants reported not feeling confident explaining their results to others (n = 105, 24%), and those who did not receive the vignette were less confident than those who did (29% versus 19% respectively; p-value = 0.02). Open-text responses about personal and family members' reactions to the results suggested that some perceived an exaggerated benefit from the negative result and might forgo more appropriate genetic testing. Our findings highlight the complexity of returning negative results and raise concerns that participants might forgo more suitable genetic testing. Future research is needed to compare the efficacy of different forms of ancillary materials on individuals' comprehension of negative results.
{"title":"Negative results from DNA-based population screening for adult-onset diseases: the recipients' experience.","authors":"Felicia Russo, Debanjana Chatterjee, Natalia DeMaria, Michelle E Florido, Maddalena Marasa, Maya Sabatello, Julia Wynn, Hila Milo Rasouly","doi":"10.1007/s12687-024-00736-5","DOIUrl":"10.1007/s12687-024-00736-5","url":null,"abstract":"<p><p>DNA-based population screening for adult-onset diseases holds promise for advancing personalized medicine and improving public health. Yet as most individuals pursuing such screening receive negative results, the return of results process must ensure that negative results and their implications are clearly understood. We explored the experiences of adults who received negative results from such screening as part of the Electronic Medical Records and Genomics consortium Phase 3 project (eMERGE-3) at Columbia University. In addition to a laboratory report and a standard counseling letter explaining the negative results, participants were randomized to receive (or not) a vignette explaining the results. A diverse cohort of 437 adult participants completed both baseline and post-result surveys. Many participants reported motivations that did not match the screening goals and included hope for diagnosis and family disease risk. A quarter of participants reported not feeling confident explaining their results to others (n = 105, 24%), and those who did not receive the vignette were less confident than those who did (29% versus 19% respectively; p-value = 0.02). Open-text responses about personal and family members' reactions to the results suggested that some perceived an exaggerated benefit from the negative result and might forgo more appropriate genetic testing. Our findings highlight the complexity of returning negative results and raise concerns that participants might forgo more suitable genetic testing. Future research is needed to compare the efficacy of different forms of ancillary materials on individuals' comprehension of negative results.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142381983","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-02DOI: 10.1007/s12687-024-00738-3
Rebecca Okyere, Menford Owusu Ampomah, Gloria Achempim-Ansong, Luke Laari, Lillian Akorfa Ohene, Karl Atkin
Sickle Cell Disease (SCD) is a severe hemoglobin gene mutation disorder inherited from both parents. 2% of Ghanaian newborns are affected by SCD; one in three Ghanaians has the hemoglobin S gene. Christian religious leaders may play a role in the prevention of SCD through the promotion of genetic counseling, genotype screening for premarital couples, and offering counseling to couples on prenatal screening and diagnosis for SCD. However, little is known about the awareness and perception of SCD among Christian religious leaders in Ghana, and this study aims to explore these. This study adopted a qualitative descriptive design to explore the awareness and perception of SCD among Christian religious leaders in the capital city of Ghana. A purposive sampling technique selected 16 participants from churches under the main Christian groups. The participants were chosen based on their roles and responsibilities within their respective churches. Data was collected using a semi-structured interview guide, which included open-ended questions to encourage participants to share their thoughts and experiences. The interviews were conducted in a private setting to ensure confidentiality. The data was then analyzed using a thematic analysis approach, which involved identifying recurring themes and patterns in the participants' responses. The study's findings are crucial. They reveal a high awareness of SCD among Christian religious leaders, but also some misconceptions. Most of the religious leaders knew SCD was a genetic disease, although a few associated SCD with superstitious beliefs, poor dietary intake, and lifestyle. Some also stated that SCD was a disease of the blood group instead of the defective haemoglobin gene. They perceived SCD to be burdensome, disruptive, and draining, and they associated the disease with burnout in Persons Living with SCD (PLWSCD) and their families. The religious leaders had a good social network with PLWSCD, including family, friends, colleagues, and congregants. These findings underscore the need for intense education about SCD, especially among Christian religious leaders. It is crucial to engage all stakeholders to intensify public awareness and education about SCD while improving the management and social support systems available to PLWSCD and families. This includes the religious institution's leadership, PLWSCD and families, the Ministry of Health, Ghana Health Service, and the Ghana Education Service. As active stakeholders, religious leaders can play a vital role in supporting PLWSCD if they are equipped with the necessary knowledge about the condition. .
{"title":"Sickle cell disease awareness and perception among Christian religious leaders in Accra Metropolis: a qualitative study.","authors":"Rebecca Okyere, Menford Owusu Ampomah, Gloria Achempim-Ansong, Luke Laari, Lillian Akorfa Ohene, Karl Atkin","doi":"10.1007/s12687-024-00738-3","DOIUrl":"https://doi.org/10.1007/s12687-024-00738-3","url":null,"abstract":"<p><p>Sickle Cell Disease (SCD) is a severe hemoglobin gene mutation disorder inherited from both parents. 2% of Ghanaian newborns are affected by SCD; one in three Ghanaians has the hemoglobin S gene. Christian religious leaders may play a role in the prevention of SCD through the promotion of genetic counseling, genotype screening for premarital couples, and offering counseling to couples on prenatal screening and diagnosis for SCD. However, little is known about the awareness and perception of SCD among Christian religious leaders in Ghana, and this study aims to explore these. This study adopted a qualitative descriptive design to explore the awareness and perception of SCD among Christian religious leaders in the capital city of Ghana. A purposive sampling technique selected 16 participants from churches under the main Christian groups. The participants were chosen based on their roles and responsibilities within their respective churches. Data was collected using a semi-structured interview guide, which included open-ended questions to encourage participants to share their thoughts and experiences. The interviews were conducted in a private setting to ensure confidentiality. The data was then analyzed using a thematic analysis approach, which involved identifying recurring themes and patterns in the participants' responses. The study's findings are crucial. They reveal a high awareness of SCD among Christian religious leaders, but also some misconceptions. Most of the religious leaders knew SCD was a genetic disease, although a few associated SCD with superstitious beliefs, poor dietary intake, and lifestyle. Some also stated that SCD was a disease of the blood group instead of the defective haemoglobin gene. They perceived SCD to be burdensome, disruptive, and draining, and they associated the disease with burnout in Persons Living with SCD (PLWSCD) and their families. The religious leaders had a good social network with PLWSCD, including family, friends, colleagues, and congregants. These findings underscore the need for intense education about SCD, especially among Christian religious leaders. It is crucial to engage all stakeholders to intensify public awareness and education about SCD while improving the management and social support systems available to PLWSCD and families. This includes the religious institution's leadership, PLWSCD and families, the Ministry of Health, Ghana Health Service, and the Ghana Education Service. As active stakeholders, religious leaders can play a vital role in supporting PLWSCD if they are equipped with the necessary knowledge about the condition. .</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-10-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142366920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-01Epub Date: 2024-08-10DOI: 10.1007/s12687-024-00725-8
Hsiao H Tsai, Jennifer L Young, Sara Cherny, Cat Davis Ahmed, Sadiya S Khan, Debra Duquette
Familial Hypercholesterolemia (FH) is an inherited disorder that significantly increases an individual's risk of developing premature cardiovascular disease (CVD). Early intervention involving lifestyle modification and medication is crucial in preventing CVD. Prior studies have shown that lipid-lowering therapy in children is safe and effective. Despite FH being a treatable and manageable condition, the condition is still underdiagnosed and undertreated. Universal lipid screening (ULS) in children has been recommended by some medical experts in the United States as a strategy to identify cases of FH and maximize the benefits of early invention. However, lipid screening is not routinely offered in pediatric clinics. This study aimed to explore parental experience with FH diagnosis in their children, identify key facilitators and barriers in children's diagnosis and care, and examine parental perspectives on ULS in children in the United States. A total of fourteen semi-structured interviews were conducted with participants recruited through the Family Heart Foundation. Thematic analysis identified three key themes: role of family history in facilitating child's FH diagnosis, barriers and challenges in post-diagnosis care, and attitudes towards ULS in children. All participants supported ULS in children and emphasized the value of early diagnosis and treatment for FH. However, a lack of guidance or referral after the child's diagnosis was a concern raised by many participants. This underscores the need for accessible and comprehensive care amid ongoing efforts to increase pediatric diagnosis of FH.
{"title":"\"I don't think people should die young\": perspectives of parents with children diagnosed with familial hypercholesterolemia.","authors":"Hsiao H Tsai, Jennifer L Young, Sara Cherny, Cat Davis Ahmed, Sadiya S Khan, Debra Duquette","doi":"10.1007/s12687-024-00725-8","DOIUrl":"10.1007/s12687-024-00725-8","url":null,"abstract":"<p><p>Familial Hypercholesterolemia (FH) is an inherited disorder that significantly increases an individual's risk of developing premature cardiovascular disease (CVD). Early intervention involving lifestyle modification and medication is crucial in preventing CVD. Prior studies have shown that lipid-lowering therapy in children is safe and effective. Despite FH being a treatable and manageable condition, the condition is still underdiagnosed and undertreated. Universal lipid screening (ULS) in children has been recommended by some medical experts in the United States as a strategy to identify cases of FH and maximize the benefits of early invention. However, lipid screening is not routinely offered in pediatric clinics. This study aimed to explore parental experience with FH diagnosis in their children, identify key facilitators and barriers in children's diagnosis and care, and examine parental perspectives on ULS in children in the United States. A total of fourteen semi-structured interviews were conducted with participants recruited through the Family Heart Foundation. Thematic analysis identified three key themes: role of family history in facilitating child's FH diagnosis, barriers and challenges in post-diagnosis care, and attitudes towards ULS in children. All participants supported ULS in children and emphasized the value of early diagnosis and treatment for FH. However, a lack of guidance or referral after the child's diagnosis was a concern raised by many participants. This underscores the need for accessible and comprehensive care amid ongoing efforts to increase pediatric diagnosis of FH.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"549-558"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11549273/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141914244","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-01Epub Date: 2024-09-25DOI: 10.1007/s12687-024-00735-6
Fatma Aldila, Fiona Ng Fj, Jessica Audrienna, Lynn Lim Sj, Shannon Tang, Sabrina Gabriel Tanu, Eric Aria Fernandez, Faustina Audrey Agatha, Marco Wijaya, Stevany Tiurma Br Sormin, Levana Sani, Astrid Irwanto, Samuel J Haryono, Jingmei Li, Alexandre Chan, Mikael Hartman
A breast cancer risk assessment tool for Asian populations, incorporating Polygenic Risk Score and Gail Model algorithm, has been established and validated. However, effective methods for delivering personalized risk information remain underexplored. This study aims to identify and develop effective methods for conveying breast cancer risk information to Asian women. Through ten focus group discussions with 32 women in Indonesia and Singapore, we explored preferences for the presentation of risk information. Participants favored comprehensive reports featuring actionable steps, simplified language, non-intimidating visuals, and personalized risk reduction recommendations. Singaporean participants, more aware of breast cancer prevention, showed a lower likelihood of seeking follow-ups upon receiving low-risk results compared to Indonesians. Overall, participants found the reports useful and advocated for similar approaches in other disease assessments. Balancing content and complexity in reports is crucial, highlighting the need for improved patient understanding and engagement with healthcare providers. Future studies could explore physicians' roles in delivering personalized risk assessments for breast cancer prevention.
{"title":"What do women want to see in a personalized breast cancer risk report? A qualitative study of Asian women of two countries.","authors":"Fatma Aldila, Fiona Ng Fj, Jessica Audrienna, Lynn Lim Sj, Shannon Tang, Sabrina Gabriel Tanu, Eric Aria Fernandez, Faustina Audrey Agatha, Marco Wijaya, Stevany Tiurma Br Sormin, Levana Sani, Astrid Irwanto, Samuel J Haryono, Jingmei Li, Alexandre Chan, Mikael Hartman","doi":"10.1007/s12687-024-00735-6","DOIUrl":"10.1007/s12687-024-00735-6","url":null,"abstract":"<p><p>A breast cancer risk assessment tool for Asian populations, incorporating Polygenic Risk Score and Gail Model algorithm, has been established and validated. However, effective methods for delivering personalized risk information remain underexplored. This study aims to identify and develop effective methods for conveying breast cancer risk information to Asian women. Through ten focus group discussions with 32 women in Indonesia and Singapore, we explored preferences for the presentation of risk information. Participants favored comprehensive reports featuring actionable steps, simplified language, non-intimidating visuals, and personalized risk reduction recommendations. Singaporean participants, more aware of breast cancer prevention, showed a lower likelihood of seeking follow-ups upon receiving low-risk results compared to Indonesians. Overall, participants found the reports useful and advocated for similar approaches in other disease assessments. Balancing content and complexity in reports is crucial, highlighting the need for improved patient understanding and engagement with healthcare providers. Future studies could explore physicians' roles in delivering personalized risk assessments for breast cancer prevention.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"517-528"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11549266/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142336839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-01Epub Date: 2024-08-13DOI: 10.1007/s12687-024-00724-9
Maira Tafolla, Raquel Amador, Motunrayo J Oyeyemi, Zach Algaze, Juhi Pandey, Robin P Goin-Kochel, Dustin E Sarver, Amanda Gulsrud
Genetic research can help advance our knowledge of autism and positively impact the progress of care for individuals with autism. Asian American and Pacific Islander (AAPI) and Black participants remain significantly underrepresented in genetic research in autism in the United States, including nationwide, multisite, genetic consortiums like Simons Foundation Powering Autism Research for Knowledge (SPARK). Few studies have explored the unique motivators and barriers that influence participation in genetics research across underrepresented groups with autism and strategies to increase participation. Therefore, the aim of this study was to understand the perspectives of AAPI and Black parents of individuals with autism about participating in genetic research, specifically motivators (e.g., desire to know more about the relationship between autism and genetics) and/or barriers (e.g., mistrust of research staff) that may impact their decision to participate in genetic research. Using a mixed-methods approach, we collected surveys (n = 134) across the United States and conducted three focus groups with parents of individuals with autism (n = 16) who identified as AAPI and Black from two large metropolitan cities. No significant differences were observed in the survey data but findings from the focus groups elucidate shared motivators for participation (e.g., to help advance the autism field for future generations) and nuanced differences in barriers that influence Black and AAPI parents' decision to participate (e.g., different beliefs about the source of autism). Practical suggestions to improve outreach and study engagement in genetic research in autism were identified and discussed.
{"title":"Barriers, motivators and strategies to increase participation in genetic research among Asian and Black families of autistic individuals.","authors":"Maira Tafolla, Raquel Amador, Motunrayo J Oyeyemi, Zach Algaze, Juhi Pandey, Robin P Goin-Kochel, Dustin E Sarver, Amanda Gulsrud","doi":"10.1007/s12687-024-00724-9","DOIUrl":"10.1007/s12687-024-00724-9","url":null,"abstract":"<p><p>Genetic research can help advance our knowledge of autism and positively impact the progress of care for individuals with autism. Asian American and Pacific Islander (AAPI) and Black participants remain significantly underrepresented in genetic research in autism in the United States, including nationwide, multisite, genetic consortiums like Simons Foundation Powering Autism Research for Knowledge (SPARK). Few studies have explored the unique motivators and barriers that influence participation in genetics research across underrepresented groups with autism and strategies to increase participation. Therefore, the aim of this study was to understand the perspectives of AAPI and Black parents of individuals with autism about participating in genetic research, specifically motivators (e.g., desire to know more about the relationship between autism and genetics) and/or barriers (e.g., mistrust of research staff) that may impact their decision to participate in genetic research. Using a mixed-methods approach, we collected surveys (n = 134) across the United States and conducted three focus groups with parents of individuals with autism (n = 16) who identified as AAPI and Black from two large metropolitan cities. No significant differences were observed in the survey data but findings from the focus groups elucidate shared motivators for participation (e.g., to help advance the autism field for future generations) and nuanced differences in barriers that influence Black and AAPI parents' decision to participate (e.g., different beliefs about the source of autism). Practical suggestions to improve outreach and study engagement in genetic research in autism were identified and discussed.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"559-572"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11549258/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141972094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-01DOI: 10.1007/s12687-024-00745-4
Francisca Stutzin Donoso, Tim Carver, Lorenzo Ficorella, Nichola Fennell, Antonis C Antoniou, Douglas F Easton, Marc Tischkowitz, Fiona M Walter, Juliet A Usher-Smith, Stephanie Archer
{"title":"Correction: Improving the communication of multifactorial cancer risk assessment results for different audiences: a co-design process.","authors":"Francisca Stutzin Donoso, Tim Carver, Lorenzo Ficorella, Nichola Fennell, Antonis C Antoniou, Douglas F Easton, Marc Tischkowitz, Fiona M Walter, Juliet A Usher-Smith, Stephanie Archer","doi":"10.1007/s12687-024-00745-4","DOIUrl":"10.1007/s12687-024-00745-4","url":null,"abstract":"","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"581"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11549256/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142510276","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Geographic and sociodemographic aspects may influence the natural history and epidemiology of mucopolysaccharidoses (MPS). The main objective in this work was to evaluate the clinical, molecular, and geographic profile of MPS in a population from Ceará (Northeast Brazil). For this, we have performed a descriptive cross-sectional study based on clinical evaluation, interviews with patients and/or family members, and review of medical records of 76 MPS patients. MPS II was the most common type, with the most affected individuals presenting missense pathogenic variants. Patients with MPS I proved to be the most severe clinical phenotype, presenting the first symptoms (mean: 7.1 months; SD = 4.5) and being diagnosed earlier (2.2 years; SD = 2.1) in comparison with the other types. In addition, we have shown that 13 individuals with MPS VI were born of consanguineous marriages in small, nearby cities, in a place where geographical isolation, consanguinity, and clusters of genetic diseases were previously reported. Ten of these individuals (at least, seven different families) presented a rare pathogenic variant in the ARSB gene, c.1143-8T > G in homozygosity, previously reported only among Iberian and South American patients. The results presented here provide a comprehensive picture of MPS in an important state of the Brazilian Northeast, a region that concentrates many risk factors for rare genetic diseases, such as endogamy, inbreeding, and reproductive isolation. We discuss the possible evolutionary processes and biosocial dynamics that can help to explain this finding in terms of population medical genetics and public health.
地理和社会人口因素可能会影响粘多糖病(MPS)的自然史和流行病学。这项研究的主要目的是评估塞阿拉州(巴西东北部)人群中 MPS 的临床、分子和地理特征。为此,我们对 76 名 MPS 患者进行了临床评估、患者和/或家属访谈以及病历审查,并在此基础上开展了一项描述性横断面研究。MPS II 是最常见的类型,大多数患者出现错义致病变异。事实证明,MPS I 患者的临床表型最为严重,与其他类型的患者相比,他们最早出现症状(平均:7.1 个月;标准差 = 4.5),确诊时间也较早(2.2 年;标准差 = 2.1)。此外,我们还发现,13 名罹患 MPS VI 的患者出生在附近小城市的近亲结婚家庭,而该地区以前曾有过地理隔离、近亲结婚和遗传病聚集的报道。其中 10 人(至少 7 个不同的家庭)的 ARSB 基因出现了一种罕见的致病变异,即 c.1143-8T > G 的同源变异,此前只有伊比利亚和南美患者出现过这种变异。本文介绍的结果全面反映了巴西东北部一个重要州的 MPS 情况,该地区集中了许多导致罕见遗传病的风险因素,如近亲结婚、近亲繁殖和生殖隔离。我们讨论了可能的进化过程和生物社会动态,这有助于从群体医学遗传学和公共卫生的角度解释这一发现。
{"title":"The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil).","authors":"Augusto César Cardoso-Dos-Santos, Luiza Monteavaro Mariath, Franciele Trapp, Ana Carolina Brusius Facchin, Sandra Leistner, Francyne Kubaski, Roberto Giugliani, Lavinia Schuler-Faccini, Erlane Marques Ribeiro","doi":"10.1007/s12687-024-00718-7","DOIUrl":"10.1007/s12687-024-00718-7","url":null,"abstract":"<p><p>Geographic and sociodemographic aspects may influence the natural history and epidemiology of mucopolysaccharidoses (MPS). The main objective in this work was to evaluate the clinical, molecular, and geographic profile of MPS in a population from Ceará (Northeast Brazil). For this, we have performed a descriptive cross-sectional study based on clinical evaluation, interviews with patients and/or family members, and review of medical records of 76 MPS patients. MPS II was the most common type, with the most affected individuals presenting missense pathogenic variants. Patients with MPS I proved to be the most severe clinical phenotype, presenting the first symptoms (mean: 7.1 months; SD = 4.5) and being diagnosed earlier (2.2 years; SD = 2.1) in comparison with the other types. In addition, we have shown that 13 individuals with MPS VI were born of consanguineous marriages in small, nearby cities, in a place where geographical isolation, consanguinity, and clusters of genetic diseases were previously reported. Ten of these individuals (at least, seven different families) presented a rare pathogenic variant in the ARSB gene, c.1143-8T > G in homozygosity, previously reported only among Iberian and South American patients. The results presented here provide a comprehensive picture of MPS in an important state of the Brazilian Northeast, a region that concentrates many risk factors for rare genetic diseases, such as endogamy, inbreeding, and reproductive isolation. We discuss the possible evolutionary processes and biosocial dynamics that can help to explain this finding in terms of population medical genetics and public health.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"573-580"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11549260/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142001013","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
This article elaborates research participant perspectives on the communication of individual research results from genomic analyses. While most analyses focus on how to communicate results from the perspectives of clinicians or researchers, there is insufficient data on user perspectives and how this information may be used, valued, and interpreted by patients and their families. The concept of personal utility, which considers factors related to quality of life, including on how information may impact the person's future decisions, has been shown to be particularly relevant to understand research participant perspectives and to move beyond clinical and analytic utility factors such as mortality and morbidity. This article draws from qualitative research of research participants awaiting genomic results in the case of sudden cardiac death. Our results show perspectives of personal utility in communication of genomic results, including cognitive, behavioral, and affective outcomes. Cognitive outcomes include gain of information, improved knowledge of etiology and inheritance characteristics, and curiosity for what might be found. Behavioral outcomes include being able to plan life decisions, while affective outcomes include various coping strategies used. We will also discuss the value of knowing negative results and incidental findings from the research participant's perspective. This contribution gives suggestions on best practices to guide genome analysis returns, including incorporating participant wishes on individualized communication at the consent stage; developing relational autonomy approaches; and engaging them throughout the research trajectory.
{"title":"Research participant perceptions of personal utility in disclosure of individual research results from genomic analysis.","authors":"Brenda Bogaert, Marie-Josée Crevier, Cindy Roth, Ralf J Jox, Gaia Barazzetti","doi":"10.1007/s12687-024-00734-7","DOIUrl":"10.1007/s12687-024-00734-7","url":null,"abstract":"<p><p>This article elaborates research participant perspectives on the communication of individual research results from genomic analyses. While most analyses focus on how to communicate results from the perspectives of clinicians or researchers, there is insufficient data on user perspectives and how this information may be used, valued, and interpreted by patients and their families. The concept of personal utility, which considers factors related to quality of life, including on how information may impact the person's future decisions, has been shown to be particularly relevant to understand research participant perspectives and to move beyond clinical and analytic utility factors such as mortality and morbidity. This article draws from qualitative research of research participants awaiting genomic results in the case of sudden cardiac death. Our results show perspectives of personal utility in communication of genomic results, including cognitive, behavioral, and affective outcomes. Cognitive outcomes include gain of information, improved knowledge of etiology and inheritance characteristics, and curiosity for what might be found. Behavioral outcomes include being able to plan life decisions, while affective outcomes include various coping strategies used. We will also discuss the value of knowing negative results and incidental findings from the research participant's perspective. This contribution gives suggestions on best practices to guide genome analysis returns, including incorporating participant wishes on individualized communication at the consent stage; developing relational autonomy approaches; and engaging them throughout the research trajectory.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"529-538"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11549069/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142298430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-10-01Epub Date: 2024-08-09DOI: 10.1007/s12687-024-00721-y
Sarah Walters, Colleen Aldous, Helen Malherbe
Individualised treatment, including genetic services, calls for an increased role of primary healthcare practitioners (pHCPs) in diagnosing and caring for individuals with genetic conditions. PHCPs' genetics knowledge and practices must be current to ensure adequate care. A scoping review was conducted to explore peer-reviewed articles on the knowledge, attitudes, and practices (KAPs) of pHCPs concerning genetics, genetic testing, and genetic services. English-language human genetics/genomics articles published between January 1990 and April 2022 in low- and middle-income countries (LMICs) were included. Twenty-eight articles from 16 LMICs in five World Health Organisation (WHO)-defined regions met the inclusion criteria and showed a steady increase in publications, with varied contributions by region. The Eastern Mediterranean Region (EMR) contributed the most articles (n = 8), while the Western Pacific Region (WPR) had the least (n = 2). Brazil published the most articles (n = 6), while ten countries contributed one article each. Fifteen articles included knowledge, 19 included attitudes towards genetics, and eight included genetic practices. The findings indicate that pHCPs in LMICs lack knowledge of genetics and its applications despite their positive outlook towards genetic services. Barriers such as limited resources, financial constraints, and cultural or religious beliefs hinder access to genetic services. Enhancing pHCPs' genetics education is vital for improving care for those affected by genetic conditions. The scarcity of literature in LMICs emphasises the need for research on educational interventions to improve patient outcomes and family support.
{"title":"Knowledge, attitudes, and practices of primary healthcare practitioners in low- and middle-income countries: a scoping review on genetics.","authors":"Sarah Walters, Colleen Aldous, Helen Malherbe","doi":"10.1007/s12687-024-00721-y","DOIUrl":"10.1007/s12687-024-00721-y","url":null,"abstract":"<p><p>Individualised treatment, including genetic services, calls for an increased role of primary healthcare practitioners (pHCPs) in diagnosing and caring for individuals with genetic conditions. PHCPs' genetics knowledge and practices must be current to ensure adequate care. A scoping review was conducted to explore peer-reviewed articles on the knowledge, attitudes, and practices (KAPs) of pHCPs concerning genetics, genetic testing, and genetic services. English-language human genetics/genomics articles published between January 1990 and April 2022 in low- and middle-income countries (LMICs) were included. Twenty-eight articles from 16 LMICs in five World Health Organisation (WHO)-defined regions met the inclusion criteria and showed a steady increase in publications, with varied contributions by region. The Eastern Mediterranean Region (EMR) contributed the most articles (n = 8), while the Western Pacific Region (WPR) had the least (n = 2). Brazil published the most articles (n = 6), while ten countries contributed one article each. Fifteen articles included knowledge, 19 included attitudes towards genetics, and eight included genetic practices. The findings indicate that pHCPs in LMICs lack knowledge of genetics and its applications despite their positive outlook towards genetic services. Barriers such as limited resources, financial constraints, and cultural or religious beliefs hinder access to genetic services. Enhancing pHCPs' genetics education is vital for improving care for those affected by genetic conditions. The scarcity of literature in LMICs emphasises the need for research on educational interventions to improve patient outcomes and family support.</p>","PeriodicalId":46965,"journal":{"name":"Journal of Community Genetics","volume":" ","pages":"461-474"},"PeriodicalIF":1.5,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11549072/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141907977","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}