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1.
Am J Hum Genet ; 109(12): 2141-2151, 2022 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-36417915

RESUMO

As genomic and personalized medicine becomes mainstream, assessing and understanding the public's genetic literacy is paramount. Because genetic research drives innovation and involves much of the public, it is equally important to assess its impact on genetic literacy. We designed a survey to assess genetic literacy in three ways (familiarity, knowledge, and skills) and distributed it to two distinct samples: 2,050 members of the general population and 2,023 individuals currently enrolled in a large-scale genetic research study. We compared these data to a similar survey implemented in 2013. The results indicate that familiarity with basic genetic terms in 2021 (M = 5.36 [range 1-7], p < 0.001) and knowledge of genetic concepts in 2021 (M = 9.06 [56.6% correct], p = 0.002) are significantly higher compared to 2013 (familiarity: M = 5.08 [range 1-7]; knowledge: M = 8.72 [54.5% correct]). Those currently enrolled in a genetic study were also significantly more familiar with genetic terms (M = 5.79 [range 1-7], p < 0.001) and more knowledgeable of genetic concepts (M = 10.57 [66.1% correct], p < 0.001), and they scored higher in skills (M = 3.57 [59.5% correct], p < 0.001) than the general population (M = 5.36 [range 1-7]; M = 9.06 [56.6% correct]; M = 2.65 [44.2% correct]). The results suggest that genetic literacy is improving over time, with room for improvement. We conclude that educational interventions are needed to ensure familiarity with and comprehension of basic genetic concepts and suggest further exploration of the impact of genetic research participation on genetic literacy to determine mechanisms for potential interventions.


Assuntos
Pesquisa em Genética , Alfabetização , Humanos , Genômica , Medicina de Precisão
2.
Ann Surg Oncol ; 31(9): 5911-5918, 2024 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-38862836

RESUMO

INTRODUCTION: A significant proportion of breast cancer cases are hereditary and are potentially preventable. However, adoption of the preventive measures remains a significant challenge, particularly because of to lack of knowledge and awareness in low- to middle-income countries. METHODS: This prospective study conducted at a high-volume tertiary care cancer center in North India to assess the knowledge, awareness, and attitudes of female breast cancer patients and impact of a brief educational intervention. The study involved three phases: pre-interventional assessment, educational intervention, and post-interventional assessment utilizing a structured questionnaire. RESULTS: The study involved 300 newly diagnosed breast cancer patients; 16.7% were familial. At the outset, 87.0% patients had low knowledge of risk factors, 90.3% about screening, and 32.7% about treatment. Awareness levels were low: 13.7% aware of familial risk and 2.7% of breast cancer genes. Affordability of genetic testing was low (15.2%), and interest in testing for self and family members was limited (32.0% and 26.3%). Following educational intervention, a significant positive percentage change was noticed in knowledge (risk factors: 12.8%, screening: 36.2%, treatment: 82%), awareness (familial risk: 66.7%, BRCA gene: 12.3%), and attitude (testing for self: 17.8%, family: 19.5%). CONCLUSIONS: This study highlights the significant knowledge gaps among breast cancer patients regarding genetics. The educational intervention led to notable improvements in knowledge, awareness, and attitudes, underscoring the importance of tailored patient education in breast cancer care.


Assuntos
Neoplasias da Mama , Testes Genéticos , Conhecimentos, Atitudes e Prática em Saúde , Letramento em Saúde , Educação de Pacientes como Assunto , Humanos , Feminino , Neoplasias da Mama/genética , Estudos Prospectivos , Inquéritos e Questionários , Adulto , Pessoa de Meia-Idade , Índia , Educação de Pacientes como Assunto/métodos , Predisposição Genética para Doença , Seguimentos , Prognóstico , Fatores de Risco , Países em Desenvolvimento , Idoso , Adulto Jovem
3.
J Genet Couns ; 33(1): 232-237, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37877322

RESUMO

Microlearning uses short educational interventions to provide learners with the necessary knowledge and skills to perform specific tasks or solve immediate problems. This approach is increasingly used across digital platforms to engage learners and foster quick comprehension. Microlearning can be used in clinical genetics education to deliver a comprehensive educational intervention that is segmented into smaller discrete but complimentary components. This report discusses one group's approach to using microlearning in clinician education and provides tips that can be applied to other educational efforts. High-quality genetics education has the potential to be disseminated across multiple delivery methods and to multiple audiences, thereby increasing its impact and reach.


Assuntos
Atenção , Conhecimento , Humanos , Escolaridade
4.
J Genet Couns ; 33(1): 222-231, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37965839

RESUMO

To ensure genomic medicine is delivered safely and effectively, it is crucial that healthcare professionals are able to understand and communicate genomic results. This Education Innovation describes a nationally agreed, cross-professional competency framework outlining the knowledge, skills and behaviors required to communicate genomic results. Using principles of the nominal group technique, consensus meetings with clinical, scientific and educational experts identified six stages in the return of results process, drafted and iterated competencies. Competencies were then mapped across three levels to acknowledge different degrees of experiences and scopes of practice. The framework was open for consultation with healthcare professionals and patient communities before being published. The finalized framework includes six core competency statements required to communicate genomic results. This framework is designed to be a guide for best practice and a developmental tool to support individuals and organizations. It can be used by healthcare professionals, such as genetic counselors, to identify individual learning needs or to structure the development of training for other healthcare professionals who are increasingly involved in requesting and returning results for genomic tests.


Assuntos
Conselheiros , Genômica , Humanos , Escolaridade , Pessoal de Saúde , Conhecimento
5.
J Genet Couns ; 33(1): 216-221, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37849384

RESUMO

While many genetic professionals are involved in the education of lay and professional audiences, most do not have formal training in education theory and program design. Partnerships with adult education experts can provide additional resources and improve the level of instruction, thereby increasing the impact of an educational intervention. This report discusses the experience of a multidisciplinary team of educators, clinicians, and researchers partnering to develop evidence-based education for cardiology practitioners. It includes practical advice for how clinicians and educators can develop more effective education through collaboration, needs assessment, instructional design, and iterative content development.


Assuntos
Estudos Interdisciplinares , Adulto , Humanos , Escolaridade
6.
J Genet Couns ; 2024 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-39010818

RESUMO

Understanding the prenatal screening and diagnostic tests performed during pregnancy and making a decision in line with the test results can be a complex process for pregnant individuals and their families. Therefore, this study examined pregnant individuals' genetic literacy and decisional conflict regarding prenatal screening tests. The study was conducted with 328 pregnant individuals who applied to a training and research hospital to receive antenatal care between April 05 and September 30, 2021. Research data were collected by using the "Decisional Conflict Scale," "SURE Scale," and "Genetic Literacy and Comprehension Measure." The mean age of the participants was 28.69 ± 5.48, and the mean gestational week was 25.90 ± 10.43. A statistically significant difference was found between the educational levels of the pregnant individuals and the genetic literacy and comprehension scales (p < 0.001). A statistically significant difference was found between getting information about prenatal screening tests, having a screening test and decisional conflict scale, SURE Scale, and genetic literacy and comprehension scales (p < 0.001). A weak, negative, statistically significant correlation was found between the genetic literacy and comprehension familiarity and decision conflict scales (r = -0.177, p = 0.001). It is well known that pregnant individuals have difficulty understanding and interpreting test results due to prenatal screening tests that include genetic information. In our study, approximately half of the pregnant individuals received information about prenatal screening tests. Therefore, prenatal care must include the necessary information about prenatal screening tests. The study found that as the genetic literacy of pregnant individuals increased, the conflict of decisions they experienced decreased. Accordingly, it is suggested that interventions to increase genetic literacy among pregnant individuals may be effective in reducing decisional conflict regarding prenatal screening tests.

7.
J Genet Couns ; 2024 Feb 16.
Artigo em Inglês | MEDLINE | ID: mdl-38363012

RESUMO

There remains an urgent need for expanded genomics training in undergraduate medical education, especially as genetic and genomic assessments become increasingly important in primary care and routine clinical practice across specialties. Physician trainees continue to report feeling poorly prepared to provide effective consultation or interpretation of genomic test results. Here we report on the development, pilot implementation, and evaluation of an elective offering for pre-clinical medical students called the Sanford Precision Health Scholars Immersive Learning Experience (PHS), which was designed leveraging genetic counseling expertise as one means to address this need. This 9-week course, piloted in Fall 2021 at UC San Diego, afforded students the opportunity to build technical skills and competencies in clinical genomics while identifying, addressing, and engaging with pervasive health disparities in genomics. Interactive exercises focused students' learning on strategies for empathic and compassionate patient interactions while supporting the application of concepts and knowledge to future practice. Upon completion of the course, participants reported increases in confidence related to skills required for clinical genomics practice. Drawing on learnings from this pilot implementation, recommendations for refining the program include deepening pedagogical engagement with ethical issues, expanding the offering to trainees across health professions, including pharmacy students, and incorporating an optional experiential learning component. Educational offerings, like PHS, that are designed with the input of genetic counseling expertise may ease pressures on the genetic counseling profession by building a more genomic-literate healthcare workforce that can better support efforts to expand access for patients.

8.
J Genet Couns ; 33(1): 179-188, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37735936

RESUMO

Many current and upcoming healthcare providers do not feel comfortable ordering or discussing genetic tests and using genetic information in medicine. Nationally, a little over a quarter of medical students indicate that they do not feel prepared to use genetic information in clinical rotations, despite attempts at many schools to remodel the genetics curriculum. This study was conducted at Emory University School of Medicine to identify gaps within the medical curriculum that may contribute to student reports that they feel underprepared to apply genetic knowledge in clinical practice. The analysis included a comprehensive curriculum inventory of genetic content that was then compared to the responses from focus groups of randomly selected second- and fourth-year medical students without a prior genetics degree or background. This joint analysis of precisely what was taught and how it was perceived by students was informative in the development of targeted interventions in our curriculum, and it highlighted the important role of genetic counselors in the education of medical students. Our curriculum has a structure similar to that at many other schools, in which core genetics concepts are concentrated in a brief segment in the first year. We believe our results will be useful for other medical schools to address the perception by medical students that they are underprepared to use genetic information and other basic sciences clinically.


Assuntos
Conselheiros , Estudantes de Medicina , Humanos , Currículo , Escolaridade , Emoções
9.
J Genet Couns ; 33(1): 206-215, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-38351721

RESUMO

The German Cancer Society (Deutsche Krebsgesellschaft DKG) has published a position paper to address the challenges of cancer patient care in the era of genomic medicine. The German Consortium Hereditary Breast and Ovarian Cancer (GC-HBOC) has implemented this recommendation in its care concept for families at risk. Core elements are the outcome-oriented evaluation of structured and standardized clinical measures and reporting recommendations derived therefrom to primary care providers and patients. A cross-sector network with certified breast cancer and gynecological cancer centers was founded in 2015, starting from the Cologne Center of the GC-HBOC. To guarantee the knowledge transfer for mainstream genetic counseling, the Cologne center has established an educational program for physicians and specialized nurses in order to pilot trans-sectoral knowledge transfer on risk assessment and risk-stratified care. It consists of face-to-face lectures with written knowledge test, attending a genetic case conference and genetic counseling sessions with the opportunity to counsel under supervision. The lectures were accompanied by a structured evaluation of the participants' satisfaction and feedback of the needs in mainstream genetic counseling. Thereby, the network ensures that genetic counseling and testing is provided according to state-of-the-art knowledge and allows physicians to participate in knowledge-generating care outside the university setting and patients to receive care close to home. After multiple feedback cycles to improve the educational program, the GC-HBOC, in cooperation with the German Cancer Society, has now adopted this concept and developed a common and uniform online curriculum funded by the Federal Ministry of Health. https://www.krebsgesellschaft.de/fortbildung-familiaerer-krebs.html.


Assuntos
Neoplasias da Mama , Neoplasias Ovarianas , Humanos , Feminino , Aconselhamento Genético , Neoplasias da Mama/genética , Neoplasias Ovarianas/genética , Atenção Primária à Saúde
10.
Epilepsia ; 64(9): 2443-2453, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37353999

RESUMO

OBJECTIVE: Hispanics continue to face challenges when trying to access health care, including epilepsy care and genetic-related health care services. This study examined epilepsy genetic knowledge and beliefs in this historically underserved population. METHODS: Questionnaires were completed by 641 adults with epilepsy without identified cause, of whom 122 self-identified as Hispanic or Latino and 519 as non-Hispanic. Participants were asked about their views on the contribution of genetics to the cause of their epilepsy ("genetic attribution"), optimism for advancements in epilepsy genetic research ("genetic optimism"), basic genetic knowledge, and epilepsy-specific genetic knowledge. Generalized linear models were used to compare the two groups in the means of quantitative measures and percents answered correctly for individual genetic knowledge items. Analyses were adjusted for age, sex, education, religion, family history of epilepsy, and time since last seizure. RESULTS: Hispanics did not differ from non-Hispanics in genetic attribution, genetic optimism, or number of six basic genetic knowledge items answered correctly. The number of nine epilepsy-specific genetic knowledge items answered correctly was significantly lower for Hispanics than non-Hispanics (adjusted mean = 6.0 vs. 6.7, p < .001). After adjustment for education and other potential mediators, the proportion answered correctly was significantly lower for Hispanics than non-Hispanics for only two items related to family history and penetrance of epilepsy-related genes. Only 54% of Hispanics and 61% of non-Hispanics answered correctly that "If a person has epilepsy, his or her relatives have an increased chance of getting epilepsy." SIGNIFICANCE: Despite large differences in sociodemographic variables including education, most attitudes and beliefs about genetics were similar in Hispanics and non-Hispanics. Epilepsy-specific genetic knowledge was lower among Hispanics than non-Hispanics, and this difference was mostly mediated by differences in demographic variables. Genetic counseling should address key concepts related to epilepsy genetics to ensure they are well understood by both Hispanic and non-Hispanic patients.


Assuntos
Epilepsia , Conhecimentos, Atitudes e Prática em Saúde , Hispânico ou Latino , Adulto , Feminino , Humanos , Masculino , Escolaridade , Epilepsia/epidemiologia , Epilepsia/genética , Hispânico ou Latino/genética , Hispânico ou Latino/estatística & dados numéricos , Inquéritos e Questionários , Conhecimentos, Atitudes e Prática em Saúde/etnologia , Estados Unidos/epidemiologia
11.
J Genet Couns ; 32(6): 1213-1216, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37571913

RESUMO

As a result of the pandemic, the traditional in-person didactic lecture model was adapted to a virtual learning approach. Our Laboratory Genetics and Genomics fellowship program at Nationwide Children's hospital took advantage of this opportunity to organize a multi-institutional Fellow's Conference to educate fellows from different programs on a wide range of medical genetics topics. We describe our approach of developing this lecture series utilizing subject-matter experts across institutions. In addition, we discuss the value of such an approach in reducing the amount of time individual institutions spend creating and providing didactic content for their small number of learners. Our experience could serve as a model for other educators and program directors, including genetic counseling program directors, to develop multi-institutional collaborations for didactic learning.


Assuntos
Bolsas de Estudo , Aprendizagem , Criança , Humanos , Educação de Pós-Graduação em Medicina , Currículo , Laboratórios , Inquéritos e Questionários
12.
J Genet Couns ; 32(4): 916-925, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-36994658

RESUMO

Disease-specific knowledge allows individuals with sickle cell disease, sickle cell trait, and unaffected family members alike to make informed decisions and support those affected by the condition. The current study assesses how sickle cell knowledge varies by disease status within families affected by sickle cell disease. One hundred seventy-nine participants from 84 families completed an online survey and telephone interview. Generalized linear models, with generalized estimating equations, were fitted to evaluate differences in both item-level responses and total scores on the Sickle Cell Knowledge Scale by sickle cell status. Those with negative or unknown sickle cell status scored significantly lower than those with sickle cell disease or trait, despite being related to someone with sickle cell disease (χ2 (2) = 9.72, p = 0.008). Overall, participants performed poorly on items related to sickle cell trait, with limited understanding of autosomal recessive inheritance patterns. The study's findings suggest a need to move beyond patient-centered approaches to family-centered education efforts that reach those with sickle cell traits and negative or unknown status. Findings point to knowledge gaps related to sickle cell trait and patterns of inheritance, representing key enhancement areas for future sickle cell education efforts.


Assuntos
Anemia Falciforme , Traço Falciforme , Humanos , Traço Falciforme/genética , Conhecimentos, Atitudes e Prática em Saúde , Anemia Falciforme/genética , Inquéritos e Questionários , Escolaridade
13.
Reprod Health ; 19(1): 134, 2022 Jun 06.
Artigo em Inglês | MEDLINE | ID: mdl-35668466

RESUMO

BACKGROUND: The American College of Obstetricians and Gynecologists recommends prenatal genetic testing (PGT) be offered to all pregnant persons regardless of known risk factors. However, significant racial/ethnic differences exist regarding acceptance of PGT contributing to disparities. Latinas (Latinx), one of the fastest growing ethnic groups in the United States, have low PGT acceptance rates. This systematic scoping review aimed to provide a landscape of existing literature on Latinx individuals' knowledge of, preferences for, and experiences with prenatal and preconception genetic testing. Synthesizing the current state of the science may inform development of culturally tailored interventions to support high-quality PGT decisions (e.g., informed, aligned with a pregnant persons' values). METHODS: We conducted a structured, systematic literature search of published articles and gray literature in electronic databases (PubMed, PsycINFO, CINAHL, Medline, Embase, Eric, Social Services Abstracts, and PsycArticles). Articles in English published prior to March 2021 were retrieved relating to genetics, pregnancy, and Latina women. Articles underwent title, abstract and full-text review by independent investigators to assess inclusion and exclusion criteria. Risk of bias was evaluated by two investigators. Iterative thematic analysis was employed to group study findings into themes to identify possible targets for interventions. RESULTS: The search generated 5511 unique articles. After title screening, 335 underwent abstract review and subsequently 61 full-text review. Twenty-eight studies met inclusion criteria and 7 additional studies were included after reviewing reference lists. Three overarching themes emerged: genetic knowledge/literacy (26/35, 74%), provider (mis)communication/patient satisfaction (21/35, 60%), and cross-cultural beliefs (12/35, 34%). Studies indicate discordant patient-provider language (n = 5), miscommunication (n = 4), and lack of concordant decision-making (n = 4) pose barriers to high-quality PGT decisions. Immigration status (n = 1) and religious beliefs (n = 5) are additional factors influencing PGT decisions. CONCLUSIONS: Identified studies suggest that cultural and linguistic factors affect Latinx PGT decision-making. Latinx individual's comprehension and recall of PGT information is enhanced by culturally and linguistically concordant providers-suggesting that culturally-informed interventions may enhance PGT acceptability and support high-quality decisions. Future directions to surmount PGT disparities may include community health workers and cultural brokers to empower Latinx people to make informed decisions aligned with their values and preferences.


Significant racial, ethnic, and language disparities exist in prenatal genetic testing (PGT). Latina (Latinx) people, one of the fastest growing ethnic groups in the United States, have low acceptance rates of PGT. This scoping review provides a systematic search of the literature to better understand Latinx individuals' knowledge of, preferences for, and experiences with PGT. Eight electronic data bases were systematically searched and identified articles underwent title, abstract, full text, and reference review. Iterative thematic analysis was conducted to group article findings into themes. Thirty-five studies met inclusion criteria and three overarching themes were identified: genetic knowledge/literacy, provider (mis)communication/patient satisfaction, and cross-cultural beliefs. Findings indicate that discordant patient-provider decision making and language and patient provider miscommunication pose barriers to high-quality PGT decisions. Latinx individuals' understanding and recall of PGT information is improved when delivered in a culturally and linguistically concordant manner. This suggests culturally-informed interventions, including the use of community health workers or cultural brokers, may enhance PGT acceptability and support high quality pregnancy decisions.


Assuntos
Etnicidade , Hispânico ou Latino , Feminino , Humanos , Satisfação do Paciente , Gravidez , Religião , Estados Unidos
14.
Support Care Cancer ; 29(6): 2895-2905, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33001269

RESUMO

PURPOSE: Due to limited health literacy and resulting ineffective communication between healthcare professionals and patients, not all eligible patients are offered breast cancer genetic counseling and testing. We aimed to develop a plain-language guide to increase effective communication about genetic counseling and testing with breast cancer patients with limited health literacy. METHODS: Together with oncological healthcare professionals, we drafted a list of jargon words frequently used during (breast) cancer genetic counseling. In a focus group interview with breast cancer counselees with limited health literacy, who had received genetic counseling before, we reformulated these words in plain language. Low-literate individuals, who are not familiar with breast cancer care or genetic counseling, reflected on the draft of the guide. Completeness, acceptability, and perceived usability were tested in an online questionnaire among healthcare professionals. RESULTS: The result is a plain-language guide for genetic counseling and testing with 33 frequently used jargon words and a reformulation of these words in plain language. Acceptability and perceived usefulness of the guide among healthcare professionals (n = 58) were high. CONCLUSION: The plain-language guide provides opportunities to facilitate communication about genetic counseling and testing with patients with limited health literacy and could enhance opportunities for patients to make informed decisions to participate in genetic testing. As the intention from healthcare professionals to use the plain-language guide is high, implementation of the guide in a real-life setting seems promising.


Assuntos
Neoplasias da Mama/genética , Aconselhamento Genético/métodos , Testes Genéticos/métodos , Letramento em Saúde/métodos , Feminino , Grupos Focais , Humanos , Idioma , Masculino
15.
J Genet Couns ; 30(6): 1640-1648, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-33938075

RESUMO

Direct-to-consumer genetic testing (DTCGT) is gaining popularity in Hong Kong (HK). As DTCGT forgoes specialist medical involvement, healthcare professionals have raised concerns regarding its validity, utility, and the public's ability to interpret DTCGT results. Thus, genetic counseling (GC) is recommended to facilitate understanding of DTCGT. This study aimed to investigate HK public's perception toward DTCGT and the importance of GC in DTCGT. A total of 304 HK adults were invited to complete a 37-item survey online. Participants' genomic literacy, understanding and attitude toward DTCGT and GC, and responses to a mock DTCGT scenario were assessed. 48% of participants were aware of DTCGT while 82% indicated an interest. 30% of participants were aware of GC services in HK; 49% were interested in GC services for understanding DTCGT results. Participants scored on average 7.6/11 in the genomic sequencing knowledge scale and were weak in limitations of genomic testing. In the mock DTCGT scenario, 73% of participants expressed concern with the positive results initially. After being explained limitations of DTCGT, 40% of participants reported decreased concern. Reduced perceived helpfulness in medical management and lifestyle modification were also reported by 35% and 27%, respectively. This HK population demonstrated a high level of awareness and interest in DTCGT. As potential DTCGT users, they might experience excess concern and overestimate the usefulness of positive DTCGT results, particularly in medical management. The importance of GC to educate and guide interpretation of DTCGT results is supported; yet the awareness and access of GC services is inadequate in HK.


Assuntos
Triagem e Testes Direto ao Consumidor , Testes Genéticos , Adulto , Aconselhamento Genético , Testes Genéticos/métodos , Hong Kong , Humanos , Percepção
16.
J Genet Couns ; 30(3): 742-754, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33368851

RESUMO

With the broader introduction of genomic medicine in research and clinical care, an increasing number of persons are offered genetic testing. Many factors, including genetic literacy, may impact the utilization of genetic results by patients and their families. We developed a rapid, self-administered measure of genetic literacy, called Genetic Literacy Fast Test (GeneLiFT). We next evaluated the association of GeneLiFT scores with the comprehension of limitations of genomic medicine in participants undergoing genetic testing in the NIH-sponsored eMERGE III study at Columbia University Irving Medical Center, New York. All participants underwent genetic screening for variants in 74 actionable genes associated with adult-onset disorders. A diverse cohort of 724 participants completed the survey (60% women, 45% less than 40 years old, and 53% self-reported White non-Hispanic ancestry). The GeneLiFT was validated using known group differences based on education, health literacy, and numeracy, and with questions assessing genetic knowledge. GeneLiFT identified multiple standard genetics terms, that is, jargon, not recognized by more than 50% of participants (including actionability and pathogenicity). Low genetic literacy, identified in 210 participants (29%), was significantly associated with poor understanding of the limitations of genetic testing (p-values < 10-9 ). This association was independent of education, health literacy, and numeracy levels, highlighting the importance of directly measuring genetic literacy. Low genetic literacy was also associated with low satisfaction with the informed consent process. GeneLiFT is a practical tool for rapid assessment of genetic literacy in large studies or clinical care. GeneLiFT will allow future research to efficiently assess the role of genetic literacy on the clinical impact of genetic testing.


Assuntos
Letramento em Saúde , Adulto , Feminino , Testes Genéticos , Conhecimentos, Atitudes e Prática em Saúde , Humanos , Consentimento Livre e Esclarecido , Masculino , Programas de Rastreamento , Inquéritos e Questionários
17.
J Genet Couns ; 30(6): 1649-1657, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-33934426

RESUMO

Genetic counseling has been shown to increase patient empowerment leading to positive outcomes. However, in the Johannesburg state healthcare system, the genetic counseling service is underutilized. Individuals with genetic disorders present with a variety of symptoms and are frequently referred to allied healthcare professionals for management; therefore, these professionals are in a unique position to identify appropriate patients and refer them for genetic counseling. This study aimed to determine whether allied health professionals, including physiotherapists, occupational therapists, and speech and language therapists, were aware of genetic counseling services in Johannesburg, South Africa, and whether they had previously referred patients to these services. The study also aimed to identify barriers and facilitators to referral. An adapted paper-copy questionnaire was administered to allied health professionals working at one of three state hospitals in Johannesburg. A total of 57 participants were included in this study. Results indicated that 29/57 (50.9%) of allied health professionals knew that genetic counseling services were available but only 15/29 (51.7%) of those who knew of the service had referred patients to these services in the last year. Barriers to referral included misconceptions about the role of genetic counselors, insufficient knowledge of which patients would benefit from genetic counseling, and being unable to obtain appropriate information from the Genetics Clinic for patient referral. However, allied health professionals recognized the benefit of genetic counseling and 53/57 (93%) wanted to increase their genetics knowledge. Therefore, genetics education of allied health professionals, and improved information regarding the referral procedure for genetic counseling, may improve the number of patients referred.


Assuntos
Pessoal Técnico de Saúde , Aconselhamento Genético , Atenção à Saúde , Humanos , Encaminhamento e Consulta , África do Sul
18.
J Genet Couns ; 30(3): 838-848, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33496987

RESUMO

Pregnant Hispanic women are underserved with their needs for genetic counseling, despite birth defects remaining the leading cause of infant death in the United States. We present the qualitative findings of a study to understand knowledge and perceptions of prenatal testing in a sample of hard-to-reach underrepresented Hispanic pregnant women in South Texas. The sample for this study was 10 Hispanic pregnant women who were recruited from a high-risk prenatal clinic in South Texas in 2019. The semi-structured interview questions were created based on the researchers' clinical experiences with this population and were designed to examine knowledge and perceptions of participants toward prenatal testing. Analysis of the qualitative data yielded several themes related to prenatal testing: (a) knowledge, (b) confusion, (c) partner's and support persons' opinions, (d) information sharing from providers, (e) psychological benefits, (f) preparation for baby, (g) obstacles, (h) religious influence, and (i) educational tools to assist with understanding. Women's understanding and knowledge of prenatal testing was limited, specifically regarding its purpose, how it works, the benefits, and why it was recommended by their provider. Lack of clarity about why they should take the test and its risks for them and their babies was perceived as something that could impede their acceptance of prenatal testing. All participants agreed that healthcare providers should share more information about prenatal testing in a way that uses 'everyday language' so that they can understand it better. All respondents mentioned that prenatal testing provides information about their baby's health conditions, alleviates their stress and concerns, and psychologically prepares them and their family for what is to come. Identifying ways to increase culturally appropriate education delivered by genetic counselors such as through the adoption of telemedicine and mobile technology can help fill the gap for this underserved population.


Assuntos
Testes Genéticos , Cuidado Pré-Natal , Feminino , Aconselhamento Genético , Conhecimentos, Atitudes e Prática em Saúde , Pessoal de Saúde , Hispânico ou Latino , Humanos , Gravidez
19.
BMC Med Educ ; 21(1): 524, 2021 Oct 09.
Artigo em Inglês | MEDLINE | ID: mdl-34625081

RESUMO

BACKGROUND: There is a lack of genetic knowledge among health care professionals especially in some developing countries such as Indonesia. Based on our experience, genetic disorders receive less attention in medical education and professionals. This study aims to determine the familiarity and literacy of genetics among medical students in Indonesia. METHODS: A total of 1003 Indonesian medical (pre-clinical and clinical) students completed the Rapid Estimate of Adult Literacy in Genetics (REAL-G) questionnaire with a total score of seven for familiarity and eight for genetic literacy. The Mann-Whitney U test was used to compare the familiarity and genetic literacy scores between pre-clinical and clinical students. RESULTS: The average scores of familiarity and genetic literacy were 5.63 ± 0.96 and 6.37 ± 0.83, respectively. Genetic familiarity was higher (p = 0.043) among clinical students than pre-clinical students, while there was no significant difference in genetic literacy (p = 0.362) between pre-clinical and clinical students. Genetic familiarity does not impact the level of genetic literacy. However, medical students' genetic literacy is influenced by demographic characteristics, such as age, sex, university type, genetic learning experience, university accreditation, and university location. CONCLUSIONS: In general, Indonesian medical students have relatively good familiarity and literacy in genetics although further study is necessary to accurately measure the genetic familiarity and literacy in medical students and general public.


Assuntos
Letramento em Saúde , Estudantes de Medicina , Adulto , Humanos , Indonésia , Inquéritos e Questionários , Universidades
20.
Am J Med Genet B Neuropsychiatr Genet ; 186(6): 341-352, 2021 09.
Artigo em Inglês | MEDLINE | ID: mdl-34562071

RESUMO

Our beliefs about the heritability of psychiatric traits may influence how we respond to the use of genetic information in this area. In the present study, we aim to inform future education campaigns as well as genetic counseling interventions by exploring common fears and misunderstandings associated with learning about genetic predispositions for mental health disorders. We surveyed 3,646 genetic research participants from Australia, and 960 members of the public from the United Kingdom, and the United States, and evaluated attitudes toward psychiatric genetic testing. Participants were asked hypothetical questions about their interest in psychiatric genetic testing, perceived usefulness of psychiatric genetic testing, and beliefs about malleability of behavior, among others. We also asked them to estimate the heritability of alcohol dependence, schizophrenia, and major depression. We found a high interest in psychiatric genetic testing. In most cases, more than a third of the participants showed serious concerns related to learning about personal genetic predisposition, such as not wanting to have children if they knew they had a high genetic predisposition, or not wanting to choose a partner with a high genetic predisposition for a mental health problem. Finally, we found a significant association between most participants' attitudes and their lay estimates of heritability, which highlights the complexity of educating the public about genetics.


Assuntos
Transtornos Mentais , Saúde Mental , Atitude , Criança , Aconselhamento Genético , Predisposição Genética para Doença , Testes Genéticos , Humanos , Transtornos Mentais/genética , Estados Unidos
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