Journal Of Community Genetics[JOURNAL]
Sun
200 papers
Negative results from DNA-based population screening for adult-onset diseases: the recipients' experience.
Russo F, Chatterjee D, DeMaria N … +5 more , Florido ME, Marasa M, Sabatello M, Wynn J, Milo Rasouly H
J Community Genet · 2024 Dec · PMID 39373866 · Full text
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...
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.
Sickle cell disease awareness and perception among Christian religious leaders in Accra Metropolis: a qualitative study.
Okyere R, Ampomah MO, Achempim-Ansong G … +3 more , Laari L, Ohene LA, Atkin K
J Community Genet · 2024 Dec · PMID 39358664 · Full text
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 lead...
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. .
Genetic testing perspectives in Pakistani population: a survey on knowledge, attitudes, awareness, and concerns.
Uzair M, Fatima R, Rafiq S … +4 more , Jabeen M, Qaiser H, Arshad M, Bashir S
J Community Genet · 2024 Dec · PMID 39352633 · Full text
A higher rate of consanguineous marriages is associated with the increasing prevalence of genetic disorders, imposing a significant burden on families, public health, and healthcare systems. Genetic testing facilitates t...
A higher rate of consanguineous marriages is associated with the increasing prevalence of genetic disorders, imposing a significant burden on families, public health, and healthcare systems. Genetic testing facilitates the earlier detection of disease and personalized treatment approaches. Therefore, this study aims to assess knowledge, awareness, attitudes, and concerns regarding genetic testing in the Pakistani population. Participants (n = 494) were asked about factors that influence attitudes toward undergoing genetic testing. Furthermore, the study also investigates the concerns and reservations held by the Pakistani population regarding genetic testing. Participants indicated that consanguineous marriages lead to an increased risk of hereditary disorders and agreed that knowledge of genetic diseases can improve the quality of life. Almost 80% of the respondents know the term, and the majority of them know about genetic testing. 87.7% of respondents agreed to genetic screening before marriage, and 39.9% were willing to undergo genetic testing. More knowledge was significantly associated with a higher likelihood of accepting genetic testing, indicating potential acceptance if integrated into standard procedures. Those with a family history of genetic disorders were more positive in accepting genetic testing. The level of understanding regarding genetic testing also influences the concerns. Cultural or religious beliefs may also affect the decision to accept genetic testing. The survey reveals diverse opinions and knowledge levels regarding genetic testing in Pakistan. While there was generally positive interest, concerns about privacy, accuracy, and cultural factors should be addressed. Education and awareness campaigns could help improve understanding and acceptance.
Building a National Policy for Rare Disease in Brazil.
Félix TM, Oliveira BM, Horovitz DDG
J Community Genet · 2025 Aug · PMID 39325316 · Full text
Rare diseases (RD) are individually rare, although encompass a significant proportion of the population, affecting not only the individuals but also their families. In Brazil RD is defined by the Ministry of Health as a...
Rare diseases (RD) are individually rare, although encompass a significant proportion of the population, affecting not only the individuals but also their families. In Brazil RD is defined by the Ministry of Health as a disorder that affects up to 65 individuals in 100,000, or 1.3 individuals in every 2,000. In this review the environment that led to the publication of a National Policy for Comprehensive Care for People of Rare Disease in 2014, a national plan with the aim to decrease morbidity and mortality of RD, improving the care of people with RD in the public health system are described. The process that finally led to such policy took over a decade, moving forward not only due to technical needs, but having patient organizations as essential actors and advocates. Specialized centers in RD were licensed and, since its publication, 33 centers have been accredited; such process, however, has been slow and concentrated in specific regions and larger cities of the country. Despite the incorporation of genetic tests in 2014 and exome sequencing later in 2020, many genetic tests are not offered by specialized centers, with unequal availability across the country. Public health system in Brazil uses ICD-10 for disease coding, preventing appropriate epidemiologic knowledge of RD in Brazil. Incorporation of new technologies as orphan drugs has been in place and regulation for expedite licensing for new RD drugs were issued, although high cost and availability to RD population has been a challenge.
How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study.
Tschigg K, Consoli L, Brüggemann N … +4 more , Hicks AA, Staunton C, Mascalzoni D, Biasiotto R
J Community Genet · 2024 Dec · PMID 39325315 · Full text
Recall-by-genotype (RbG) is a bottom-up approach using existing genetic data to design follow-up stratified studies. Genetic information may be partially disclosed at invitation, thus raising ethical issues which call fo...
Recall-by-genotype (RbG) is a bottom-up approach using existing genetic data to design follow-up stratified studies. Genetic information may be partially disclosed at invitation, thus raising ethical issues which call for defined best practices for disclosure and communication in RbG approaches. Within the context of the ProtectMove sub-project of the Cooperative Health Research in South Tyrol (CHRIS) study, we investigated research participant perspectives on RbG communication strategies (Step 1 and 4, questionnaire with a subsample of CHRIS participants with and without previous experience of RbG, respectively). Additionally, we explored researchers' and study personnel's experience with RbG (Step 2 and 3, focus group discussion). In step 1 (N = 95), participants were generally satisfied with the study process. Most (71.6%) wanted to know their carrier status for personal and collective benefit. Tailored disclosure strategies and transparent, effective, and well-thought-out communication approaches were advocated by study personnel (Step 2, N = 6) and researchers (Step 3, N = 7). Challenges in dealing with uncertainty, concerns caused by RbG invitations, and the possibility of misunderstanding were also raised. In step 4 (N = 369), participants valued being informed of study details at the first invitation stage, and generally felt comfortable towards RbG study invitations (58.5%) and to receiving genetic information after the study (58.5-81.6%). Comfort and perceived impact of disclosure of genetic information varied according to the type of variant being potentially disclosed. This study suggested designing communication strategies, based on clear and understandable explanations, sensitive to participant expectations and preferences, developing case-by-case solutions for disclosure.
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 39320563 · Full text
BACKGROUND: Multifactorial cancer risk prediction tools, such as CanRisk, are increasingly being incorporated into routine healthcare. Understanding risk information and communicating risk is challenging and healthcare p...
BACKGROUND: Multifactorial cancer risk prediction tools, such as CanRisk, are increasingly being incorporated into routine healthcare. Understanding risk information and communicating risk is challenging and healthcare professionals rely substantially on the outputs of risk prediction tools to communicate results. This work aimed to produce a new CanRisk report so users can directly access key information and communicate risk estimates effectively. METHODS: Over a 13-month period, we led an 8-step co-design process with patients, the public, and healthcare professionals. Steps comprised 1) think aloud testing of the original CanRisk report; 2) structured feedback on the original report; 3) literature review; 4) development of a new report prototype; 5) first round of structured feedback; 6) updating the new report prototype; 7) second round of structured feedback; and 8) finalising and publishing the new CanRisk report. RESULTS: We received 56 sets of feedback from 34 stakeholders. Overall, the original CanRisk report was not suitable for patients and the public. Building on the feedback, the new report has an overview of the information presented: section one summarises key information for individuals; sections two and three present information for healthcare professionals in different settings. New features also include explanatory text, definitions, graphs, keys and tables to support the interpretation of the information. DISCUSSION: This co-design experience shows the value of collaboration for the successful communication of complex health information. As a result, the new CanRisk report has the potential to better support shared decision-making processes about cancer risk management across clinical settings.
What do women want to see in a personalized breast cancer risk report? A qualitative study of Asian women of two countries.
Aldila F, Fj FN, Audrienna J … +13 more , Sj LL, Tang S, Tanu SG, Fernandez EA, Agatha FA, Wijaya M, Sormin STB, Sani L, Irwanto A, Haryono SJ, Li J, Chan A, Hartman M
J Community Genet · 2024 Oct · PMID 39320562 · Full text
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 inf...
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.
Research participant perceptions of personal utility in disclosure of individual research results from genomic analysis.
Bogaert B, Crevier MJ, Roth C … +2 more , Jox RJ, Barazzetti G
J Community Genet · 2024 Oct · PMID 39292430 · Full text
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 clinic...
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.
The mentee report: outcomes from implementing a mentorship program for international genetic counseling applicants.
Neogi A, Rao SK, Kavanaugh G … +3 more , Shroff T, Kennedy J, Jacobs MF
J Community Genet · 2024 Oct · PMID 39249721 · Full text
The first genetic counseling (GC) graduate training program was established in the United States (U.S.) in 1969 and GC is an emerging field of healthcare in many countries. Each year, at least 7% of applicants to U.S.-ba...
The first genetic counseling (GC) graduate training program was established in the United States (U.S.) in 1969 and GC is an emerging field of healthcare in many countries. Each year, at least 7% of applicants to U.S.-based GC graduate programs come from countries outside the U.S. ("international GC applicants''). To address the unique needs of international GC applicants, volunteers from the International Special Interest Group (ISIG) of the National Society of Genetic Counselors (NSGC) launched a semi-structured mentorship program (the "International Genetic Counseling Mentorship Program'' (IGCMP)) in 2021, which provides individualized mentorship and optional group activities for networking and learning. Fifty-two people from 19 countries signed up for the IGCMP across three application cycles. Of these, 47 were eligible to participate as mentees, and most were interested in one-on-one virtual meetings with international GCs in the U.S. (n = 41/47, 87.2%). An assessment form was sent to 17 mentees who applied to GC graduate school after participating in the first or second cycle of the IGCMP. Of the 12 responses received, 10 (83.3%) reported being extremely satisfied with their individual mentor(s), and the one-on-one meeting with a mentor was considered helpful to both the application and interview process by nine (75.0%) respondents. Importantly, feedback about program improvement revealed an interest in connecting with additional international applicants and mentors and all respondents expressed interest in receiving mentorship throughout graduate school. Future directions include collaborating with other mentorship and graduate programs to further enhance support for international applicants.
Raising awareness and education of genetic testing and counseling through fotonovelas among Latina women at risk for hereditary breast and ovarian cancer.
Barajas R, Barajas CB, Ramos YMR … +6 more , Trillos SG, Sawhney S, Campos C, Hurtado-de-Mendoza A, Rotunno M, Gillanders E
J Community Genet · 2024 Oct · PMID 39240499 · Full text
Latinas are less likely to receive genetic counseling and genetic testing (GCT) compared to non-Latina Whites because of systemic and patient-level barriers. We developed and tested fotonovelas to increase awareness of G...
Latinas are less likely to receive genetic counseling and genetic testing (GCT) compared to non-Latina Whites because of systemic and patient-level barriers. We developed and tested fotonovelas to increase awareness of GCT among Latinas at-risk of hereditary breast and ovarian cancer (HBOC). Content for the fotonovelas was drawn from an existing culturally targeted narrative video focused on improving GCT use among Latinas at-risk of HBOC. Using mixed methods, we interviewed cancer patients (n = 10) and their relatives (n = 10) to assess the preliminary efficacy of the fotonovelas through pre-and post-fotonovela items assessing self-rated knowledge of GCT and willingness to discuss cancer with family. Health workers (n = 10) provided feedback on the fotonovela content. McNemar's test was used to examine differences in the proportions of the outcomes pre- and post-fotonovelas. Interviews were transcribed and coded in Dedoose using a consensual qualitative research approach. Reading the fotonovelas increased self-rated knowledge of GCT by 22% (p = 0.16), from 50 to 60% in patients and from 63 to 100% among relatives. Analogously, reading the fotonovela increased willingness to talk about cancer with family by 33% (p = 0.02), from 70 to 100% in patients and from 38 to 75% in relatives. We identified six themes, some centered around the fotonovela's message, feedback, and perceived barriers to GCT. Overall, participants liked the use of fotonovelas to increase GCT awareness and cancer conversations with family. Fotonovelas could potentially be used as educational tools to increase GCT awareness and cancer conversations among Latino families at-risk of HBOC.
From stigma to increased social acceptance? Living with Machado-Joseph disease in São Miguel, Azores, Portugal.
Couto D, Sequeiros J, Lima M … +2 more , Sousa L, Mendes Á
J Community Genet · 2025 Dec · PMID 39215935 · Full text
This study describes the experiences with the stigma attached to Machado-Joseph disease (MJD) in São Miguel Island, the Azores (Portugal). We draw on semi-structured interviews with persons with MJD, family members, heal...
This study describes the experiences with the stigma attached to Machado-Joseph disease (MJD) in São Miguel Island, the Azores (Portugal). We draw on semi-structured interviews with persons with MJD, family members, healthcare professionals, and direct care providers recruited through the local patient's association (n = 28). Qualitative thematic analysis revealed three main themes: (i) the intense stigma associated with MJD in the past; (ii) the current tendency towards increased openness; and (iii) increased availability of information about MJD and support. The findings suggest that stigmatization was more frequent and intense in the past. Still, there is currently a decrease in the intensity of perceived stigma, accompanied by an increasing awareness about MJD within the community. The local patient's association is noted for playing a pivotal role in raising awareness about MJD in the community and fostering the confidence of individuals with MJD and their families to engage socially, which may help to reduce or mitigate feelings of stigma. This raises questions about whether the diminished stigma towards MJD in São Miguel results from heightened awareness about the condition, a decrease in the social acceptability of stigma, or a gradual internalization and normalization of stigma among individuals with MJD as a coping mechanism.
Deciphering the needs of patients with hereditary breast and ovarian Cancer in the Process of Genetic Counseling to Inform the Development of a Mobile Support App: a qualitative study in Germany.
Ammon N, Reichert C, Kupka T … +5 more , Oeltze-Jafra S, Bergmann AK, Schlegelberger B, Wolff D, Vajen B
J Community Genet · 2024 Dec · PMID 39158769 · Full text
Patients with hereditary breast and ovarian cancer (HBOC) are not only concerned about their own health but also about that of their children, grandchildren, and other relatives. Therefore, they have specific needs for i...
Patients with hereditary breast and ovarian cancer (HBOC) are not only concerned about their own health but also about that of their children, grandchildren, and other relatives. Therefore, they have specific needs for information and support. During genetic counseling guidance is provided to HBOC patients and other individuals who may be at risk for familial cancer. The purpose of the study was to identify the needs of HBOC patients during the genetic counseling process that could be addressed by digital solutions. Nine semi-structured qualitative interviews were conducted. Overall, the patients appreciated the personal contact with human geneticists as an especially positive factor in the genetic counseling process. However, patients noted the following needs (1) support in the time following genetic counseling, (2) support before genetic counseling by collecting own and familial medical information, (3) Need for contact options to support services, (4) Need for patient-friendly medical information, (5) Wish for administration-related components in a support app. The results will inform the development of a patient-centered mobile support app.
The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil).
Cardoso-Dos-Santos AC, Mariath LM, Trapp F … +6 more , Facchin ACB, Leistner S, Kubaski F, Giugliani R, Schuler-Faccini L, Ribeiro EM
J Community Genet · 2024 Oct · PMID 39158768 · Full text
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 o...
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.
Teaching and training of human resources for genetics and genomics in Brazil.
de Lima FT, de Lima MAFD, Correia PS … +4 more , Honjo RS, Maia RE, Kyosen SO, Melo DG
J Community Genet · 2025 Aug · PMID 39136858 · Full text
This manuscript reviewed the state of the art about the teaching and training of human resources for genetics and genomics in Brazil. We presented the national scenario of teaching genetics in medical undergraduate and o...
This manuscript reviewed the state of the art about the teaching and training of human resources for genetics and genomics in Brazil. We presented the national scenario of teaching genetics in medical undergraduate and other health courses. We discussed the training of medical geneticists through medical residency and addressed the training in genetics of physicians from specialties other than genetics. We examined the training of health professionals specializing in genetics through lato sensu and stricto sensu postgraduate programs and presented the proposals for multi-professional residency in genetic counseling and genetics and genomics that are currently the subject of discussion in the country. Finally, we highlighted the importance of training primary health care professionals concerning genetics and genomics for the effective establishment of a line of care for individuals with genetic disorders in the Brazilian Unified Health System. Therefore, we provided a thorough overview of how genetics is (or is not) incorporated into professional training in a comprehensive public healthcare system such as the Brazilian.
Barriers, motivators and strategies to increase participation in genetic research among Asian and Black families of autistic individuals.
Tafolla M, Amador R, Oyeyemi MJ … +5 more , Algaze Z, Pandey J, Goin-Kochel RP, Sarver DE, Gulsrud A
J Community Genet · 2024 Oct · PMID 39136857 · Full text
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 und...
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.
"I don't think people should die young": perspectives of parents with children diagnosed with familial hypercholesterolemia.
Tsai HH, Young JL, Cherny S … +3 more , Ahmed CD, Khan SS, Duquette D
J Community Genet · 2024 Oct · PMID 39126536 · Full text
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...
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.
Knowledge, attitudes, and practices of primary healthcare practitioners in low- and middle-income countries: a scoping review on genetics.
Walters S, Aldous C, Malherbe H
J Community Genet · 2024 Oct · PMID 39120782 · Full text
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 an...
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.
Parental perspectives regarding the return of genomic research results in neurodevelopmental disorders in South Africa: anticipated impact and preferences.
Diedericks A, Bruwer Z, Laing N … +7 more , Eastman E, De Vries J, Newton CR, Abubakar A, Robinson EB, Donald KA, NeuroDev study
J Community Genet · 2024 Oct · PMID 39090365 · Full text
Few policies and little research exist regarding the disclosure of genomic results to research participants in Africa. As understanding participant preferences would be pivotal to the success of the feedback process, thi...
Few policies and little research exist regarding the disclosure of genomic results to research participants in Africa. As understanding participant preferences would be pivotal to the success of the feedback process, this study set out to address this issue by engaging with enrolled participants from an ongoing genomics research project on neurodevelopmental disorders with the aim to assess the anticipated impact of receiving pertinent results and explore the preferences for feedback in a South African context. Twelve semi-structured interviews were conducted with 17 parents of children participating in the research study. Transcribed interview data and observational notes were analysed using thematic analysis and framework matrices. Participants linked their own meaning to the impact of receiving a pertinent result and perceived the information as useful for reasons other than only clinical utility. These included closure, improved management of their child's condition and information regarding recurrence risks. In terms of preferences for feedback, an in-person result delivery session, conducted by a member of the study team or medical professional familiar with their child was preferred. In addition, participants felt a sense of ownership over their blood or their contribution to the research study, finding meaning even in non-pertinent results. These findings provide insight into the type of discussions that may be valuable in enabling the development of best practices and guidelines for the return of individual genetic research results, in a culturally appropriate manner, within South African communities.
Is Tunisia ready for precision medicine? Challenges of medical genomics within a LMIC healthcare system.
Trabelsi N, Othman H, Bedhioufi H … +6 more , Chouk H, El Mabrouk H, Mahdouani M, Gribaa M, Saad A, H'mida D
J Community Genet · 2024 Aug · PMID 39080231 · Full text
As one of the key tools on the precision medicine workbench, high-throughput genetic testing has enormous promise for improving healthcare outcomes. Tunisia has made tremendous progress in acquiring and implementing the...
As one of the key tools on the precision medicine workbench, high-throughput genetic testing has enormous promise for improving healthcare outcomes. Tunisia has made tremendous progress in acquiring and implementing the technology in the clinical context. However, current utilization does not ensure the whole range of benefits that high-throughput genomic testing provides which impedes the country's ability to move forward into the new era of precision medicine. This issue is primarily related to the current state of Tunisia's healthcare ecosystem and the sociological attributes of its population, creating numerous challenges that must be addressed. In the current review, we aimed to identify and highlight these challenges that may be prevalent in other low and middle-income countries. Essentially, they fall into three main categories that include the socio-economic landscape in Tunisia, which prevents citizens from engaging in precision medicine activities; the current settings of the healthcare system that lack or miss key components for the successful implementation of precision medicine practices; and the inability of the current infrastructure and resources to handle the various challenges related to genomic data and metadata. We also propose five pillar solutions as a framework for addressing all of these challenges, which could strengthen Tunisia's capability for effective precision medicine implementation in today's clinical environment.
Exploring family communication preferences in hereditary breast and ovarian cancer and Lynch syndrome: a national Canadian survey.
Burke K, Dawson L, Hodgkinson K … +2 more , Wilson BJ, Etchegary H
J Community Genet · 2024 Aug · PMID 39046652 · Full text
BACKGROUND: Individuals affected with cancer predisposition (CPS) syndromes such as BRCA1, BRCA2 or Lynch syndrome (LS) are at an elevated risk of multiple cancers. Identifying high-risk individuals is important if they...
BACKGROUND: Individuals affected with cancer predisposition (CPS) syndromes such as BRCA1, BRCA2 or Lynch syndrome (LS) are at an elevated risk of multiple cancers. Identifying high-risk individuals is important if they are to access risk-reducing strategies. Interventions such as risk-reducing salpingo-oophorectomy in carriers of BRCA pathogenic or likely pathogenic (P/LP) variants or regular colonoscopy for carriers of LS P/LP variants are highly effective and reduce mortality. Despite clear evidence that the identification of at-risk relatives has value, the uptake of cascade testing remains at approximately 50%. It is important to understand strategies and barriers to testing to facilitate communication in families identified as haveing a hereditary cancer syndrome, to improve uptake of counselling and testing. METHOD: A national online survey of both Canadian probands (the first member in a family to have genetic testing and who were variant positive, regardless of a cancer diagnosis) and their at-risk relatives. Respondents were individuals affected with hereditary breast and ovarian cancer (HBOC) and LS. The survey was constructed based on a review of the literature and authors' feedback. Both open and closed-ended questions were used for items on demographic characteristics, risk perception, genetic test results and cancer diagnosis. Items on experiences with hereditary cancer risk communication, communication challenges, preferences and supports required were explored using a 5-point Likert scale. RESULTS: Responses indicated a high level of acceptance for the proband's direct involvement in family communication with the support of a health care provider (67% among the probands given a family letter and 55-57% among those who were not given a family letter). Respondents without a personal history of cancer were more likely to endorse a health care professional's help with family communication compared to those with a personal history of cancer (p = 0.031). Preferences for family member outreach also varied by education level, annual income, marital status and geographic location. Similarities were noted between the probands and relatives on communication outreach preferences. CONCLUSION: While the family-mediated approach to communication remains the standard across many cancer genetics programs, participants note that additional support is necessary for dissemination of result information among relatives. Because family dynamics and communication vary widely, alternative options that retain the probands' involvement in family communication but add support from a health care provider should be explored.
About
- Frequency
- Sun
- Papers found
- 200
- RSS feed
- Subscribe