Heart failure (HF) is a growing public health concern, with an increasing incidence among younger populations. Traditionally, HF was considered a condition primarily affecting the elderly, but of late, emerging evidence hints at a rapidly rising HF incidence in youth in the past 2 decades. HF in youth has been linked to a complex interaction between emerging risk factors, such as metabolic syndrome, environmental exposures, genetic predispositions, and lifestyle behaviors. This review examines these evolving determinants, including substance abuse, autoimmune diseases, and the long-term cardiovascular effects of coronavirus disease 2019, which disproportionately affect younger individuals. Through a comprehensive analysis, the study highlights the importance of early detection, targeted prevention strategies, and multidisciplinary management approaches to address this alarming trend. Promoting awareness and integrating age-specific interventions could significantly reduce the burden of HF and improve long-term outcomes among younger populations.

The goal of this study was to assess patients' prior exposure and current level of knowledge of polygenic risk scores (PRSs). We also explored reactions to receiving a high-risk or low-risk score, and gauged the overall attitudes and demand patients have with regards to PRSs. We developed an online investigator-designed survey based on existing validated tools in genetic testing. There were two versions of the survey, one including a hypothetical high-risk PRS and one with a low-risk PRS. This survey was distributed to patients attending a cardiovascular clinic for primary or secondary prevention. A total of 226 participants responded to the survey. 177 patients (79%) had not read nor heard about polygenic testing. 209 patients (93%) had never discussed polygenic testing with their health care professional (HCP). 208 patients (93%) had never received polygenic testing. The average score on the knowledge quiz was 2.47/10 [95% C.I. (2.17, 2.78)]. Participants that received a high-risk survey scored 20.52/35 [95% C.I. (16.14, 24.9)] with regards to negative emotions while low-risk survey participants scored 17.96/35 [95% C.I. (13.98, 21.94)] (p < 0.001). Participants that received a high-risk survey scored 12.42/15 [95% C.I. (10.43, 14.41)] for demand and low-risk survey participants scored 12.22/15 [95% C.I. (9.66, 14.78)] (p = 0.549). Patients have limited prior exposure and knowledge of PRSs. Compared to receiving a low-risk score, participants receiving a high-risk score have more negative emotions and feelings of uncertainty. Despite the lack of knowledge, and the high rate of negative emotions and uncertainty, demand for PRSs in cardiology practice is high.

Genetic screening analyzes an individual's genetic information to assess disease risk and provide personalized health recommendations. This article introduces the public to genetic screening, explaining its definition, principles, history, and common types, including prenatal, newborn, adult disease risk, cancer, and pharmacogenetic screening. It elaborates on the benefits of genetic screening, such as early risk detection, personalized prevention, family risk assessment, and reproductive decision-making. The article also notes limitations, including result interpretation uncertainty, psychological and ethical issues, and privacy and discrimination risks. It provides advice on selecting suitable screening, consulting professionals, choosing reliable institutions, and understanding screening purposes and limitations. Finally, it discusses applying screening results through lifestyle adjustments, regular check-ups, and preventive treatments. By comprehensively introducing genetic screening, the article aims to raise public awareness and encourage utilizing this technology to prevent disease and maintain health.

Polygenic risk scores (PRS) hold promise for early lung cancer detection and personalized treatment, yet factors influencing patient interest in PRS-based genetic testing are not well understood.

Grounded in the health belief model, this mixed-methods study explored knowledge, attitudes, perceived benefits and barriers to lung cancer PRS, and preferences for receiving PRS results.

The study included 141 individuals (41% African American, 63% female) recruited from two hospital affiliates of a comprehensive cancer center in the Southwestern United States. Although participants recognized the severity of lung cancer, knowledge of PRS was limited. Concerns about privacy, psychological impacts, and uncertainty about result usefulness diminished interest in genetic testing for polygenic risk. Significant differences (P < .05) in attitudes were observed: women expressed heightened concerns about psychological effects, and African Americans reported greater perceptions of stigma and concerns about potential familial consequences. Qualitative findings emphasized the psychological burden of learning one's genetic risk, particularly among those with family cancer histories or smoking exposure. Participants emphasized the need for clear, actionable results and assurances of data privacy.

Perceived benefits and barriers to PRS-based testing varied by sociodemographic and personal risk factors, with concerns about stigma, psychological burden, and privacy shaping attitudes. Given participants' emphasis on clear, actionable results, strategies to enhance uptake should improve risk communication, ensure data privacy, and provide guidance on risk-reducing actions. Tailored approaches addressing subgroup-specific concerns may improve diverse patient engagement and equitable access to PRS.

This study aims to investigate how eHealth use and information-seeking behavior affect older adults' acceptance of genetic testing, focusing on their participation in genetic tests and their willingness to adopt lifestyle changes based on test results. The research highlights the mediating roles of the perceived importance of genetic information (PIGI) and cancer worry.

This cross-sectional study used secondary data from the Health Information National Trends Survey (HINTS 5, Cycle 4), conducted in 2020. The analysis included 1852 adults aged 60 and above. Two mediation models were tested using SPSS 25. Model 1 examined the relationship between eHealth use, perceived importance of genetic information (PIGI), and genetic test behavior. Model 2 analyzed how cancer information-seeking influences willingness to change lifestyle behavior (WCLB) based on genetic test results, with cancer worry as a mediator.

Both models showed statistically significant mediation effects (p < 0.05). Model 1 found that eHealth use positively influences genetic test behavior through PIGI. Model 2 revealed that cancer information-seeking indirectly impacts willingness to change lifestyle behavior (WCLB) based on the genetic test results via cancer worry, confirming a full mediation effect. Additionally, among demographic variables, educational level was the strongest predictor of genetic test behavior, while gender significantly predicted WCLB, with older female adults showing higher intentions to change their lifestyle based on genetic test results than males.

The study highlights the pivotal roles of PIGI and cancer worry in shaping older adults' acceptance of genetic testing, encompassing both performing genetic test behaviors and adopting lifestyle changes based on test results. These findings offer actionable insights for designing targeted health communication strategies and interventions to enhance genetic testing uptake and foster proactive health management among older populations.

Next-generation sequencing (NGS) technologies - which allow to look at large parts or even the whole genome at once - are making their way into diagnostic clinical care. With trends towards 'mainstreaming' genetic services into general medicine, significant ethical challenges, and a disputed clinical utility and cost-benefit ratio, genomic medicine's autonomy and dominance in defining and offering NGS care may come under increased pressure from the outside (e.g., regulators, other healthcare providers and facilities, ethicists, and patients). In this paper, we show how the field of genomic medicine engages in substantial boundary-work in reaction to these circumstances. Building on multi-sited fieldwork in two centers for human genetics in Belgium and the Netherlands, we show how acts of demarcation serve to uphold an image of expertise and authority which helps maintain the field's autonomy and dominance. Through examining the delineations put forward in interviews, practice (based on observations in multidisciplinary meetings and consultations), and grey and academic literature, we show the politics involved in moving NGS forward fairly seamlessly in a way that suits the field. First, we show how genetic healthcare professionals have redefined what makes a genetic test 'valuable' so that it underlines its current value. Secondly, we examine how a genetic imaginary is put forward that both emphasizes the extraordinary character of genomic medicine and the normalcy of NGS testing. By underlining the need for their expertise whilst simultaneously normalizing the ethical challenges and positioning themselves as most capable of reflecting on these, the field minimized external regulation and kept a close grip on defining ethical issues and policy. Despite their current dominance in shaping the future of genomic care, we argue that the closedness of the field hinders it from benefiting from external expertise, reflection, and monitoring to ensure enduring and broad support for this future.

This study aimed to examine the opinions of parents with children diagnosed with attention deficit/hyperactivity disorder about genetic tests. A total of 540 parents living in Turkey participated in the study face-to-face and online. A questionnaire form prepared by the researchers was used as the data collection instrument. Face-to-face data were collected in different institutions in the cities of İzmir, Bursa and Antalya, while online data were collected through Google Forms. The results revealed that parents' views on genetic testing differed according to the sex and age of the child, as well as the parents' level of education and income, and whether the parents had genetic testing during pregnancy (p < 0.05). In the analysis, it was determined that parents' knowledge and awareness levels about genetic tests were generally low, while parents who reported that they would consider having genetic tests had concerns about the storage of their DNA materials, family conflicts that could be caused by genetic tests, and the compatibility of genetic tests with their religious beliefs.

Investigative genetic genealogy (IGG) is a technique that involves uploading genotypes developed from perpetrator DNA left at a crime scene, or DNA from unidentified remains, to public genetic genealogy databases to identify genetic relatives and, through the creation of a family tree, the individual who was the source of the DNA. As policymakers demonstrate interest in regulating IGG, it is important to understand public perspectives on IGG to determine whether proposed policies are aligned with public attitudes.

We conducted eight focus groups with members of the public (N = 72), sampled from four geographically diverse US regions, to explore general attitudes and perspectives regarding aspects of IGG practices, applications, and policies. Five major topics were explored in each focus group: when IGG should be used; who should perform IGG; how to approach consent for genetic database users; what systems of oversight should govern IGG practitioners; and whether to notify database users if their data are involved in law enforcement (LE) matching.

Participants were supportive of IGG in most scenarios, especially for cold and violent cases. The favorable attitudes toward IGG were, however, tempered by distrust of law enforcement among some participants. All participants agreed that databases must inform users if IGG is allowed, but they did not agree on how individual database users should be allowed to opt out or whether to notify them if their data are involved in specific investigations. All participants agreed that IGG should be subject to some prescriptive guidelines, regulations, or accountability mechanisms.

These findings suggest broad public support for IGG, and interest in developing systems of accountability for its practice. Our study provides useful insight for policy makers, genomic database stewards, law enforcement, and other stakeholders in IGG's practice, and suggests multiple directions for future research.

This article identifies issues relating to the use of genetics and genomics in risk-rated insurance that may challenge existing regulatory models in the UK and elsewhere. We discuss three core issues: (1) As genomic testing advances, and results are increasingly relevant to guide healthcare across an individual's lifetime, the distinction between diagnostic and predictive testing that the current UK insurance code relies on becomes increasingly blurred. (2) The emerging category of pharmacogenetic tests that are predictive only in the context of a specific prescribing moment. (3) The increasing availability and affordability of polygenic scores that are neither clearly diagnostic nor highly predictive, but which nonetheless might have incremental value for risk-rated insurance underwriting beyond conventional factors. We suggest a deliberative approach is required to establish when and how genetic information can be used in risk-rated insurance.

To evaluate the efficacy of ChatGPT 4 (GPT-4) in delivering genetic information about BRCA1, HFE, and MLH1, building on previous findings with ChatGPT 3.5 (GPT-3.5). To focus on assessing the utility, limitations, and ethical implications of using ChatGPT in medical settings.

A structured survey was developed to assess GPT-4's clinical value. An expert panel of genetic counselors and clinical geneticists evaluated GPT-4's responses to these questions. We also performed comparative analysis with GPT-3.5, utilizing descriptive statistics and using Prism 9 for data analysis.

The findings indicate improved accuracy in GPT-4 over GPT-3.5 (P < .0001). However, notable errors in accuracy remained. The relevance of responses varied in GPT-4, but was generally favorable, with a mean in the "somewhat agree" range. There was no difference in performance by disease category. The 7-question subset of the Bot Usability Scale (BUS-15) showed no statistically significant difference between the groups but trended lower in the GPT-4 version.

The study underscores GPT-4's potential role in genetic education, showing notable progress yet facing challenges like outdated information and the necessity of ongoing refinement. Our results, while showing promise, emphasizes the importance of balancing technological innovation with ethical responsibility in healthcare information delivery.

The development in human genetics must be tracked with the knowledge to provide support and positive attitudes towards genetic research and its healthcare applications, including genetic testing. Unfortunately, there has been a delay in enacting public policies related to the genetics professionals as well as the diagnosis, treatment, and prevention of genetic diseases in Indonesia. This research was conducted to build an overview of genetic knowledge and public attitudes toward genetic testing among Indonesian undergraduates. This cross-sectional study involved undergraduate students selected using the convenience sampling method. The questionnaire consisted of two parts: a true/false questionnaire (16 statements) regarding knowledge of genetics and a 5-points Likert scale questionnaire (27 statements) pertaining to attitudes towards genetic testing. A total of 1596 undergraduate students completed online questionnaire. The highest knowledge score and the most positive overall attitudes were observed in the healthcare-related majors compared to those who studied science and technology and social and humanity. A weak positive correlation was observed between knowledge and attitude toward genetic testing (Pearson's r = 0.206, p < 0.001). Undergraduate students from healthcare-related majors displayed better in both knowledge of genetics and had more positive attitudes toward genetic testing.

Genetic testing for gene mutations which elevate risk for breast cancer is particularly important for women diagnosed at a young age. Differences remain in access and utilization to testing across social groups, and research on the predictors of interest in genetic testing for women diagnosed at a young age is limited.

We examined the relationships between subjective social status (SSS) and variables previously identified as possible predictors of genetic testing, including genome sequencing knowledge, genetic worry, cancer worry, health consciousness, decision-making preferences, genetic self-efficacy, genetic-related beliefs, and subjective numeracy, among a cohort of women who were diagnosed with breast cancer at a young age.

In this sample (n = 1,076), those who had higher SSS had significantly higher knowledge about the limitations of genome sequencing (Odds Ratio (OR) = 1.11; 95% CI = 1.01-1.21) and significantly higher informational norms (OR = 1.93; 95% CI = 1.19-3.14) than those with lower SSS. Similarly, education (OR = 2.75; 95% CI = 1.79-4.22), health status (OR = 2.18; 95% CI = 1.44-3.31) were significant predictors among higher SSS women compared to lower SSS women in our multivariate analysis. Lower SSS women with low self-reported income (OR = 0.13; 95% CI = 0.08-0.20) had lower odds of genetic testing interest. Our results are consistent with some prior research utilizing proxy indicators for socioeconomic status, but our research adds the importance of using a multidimensional indicator such as SSS to examine cancer and genetic testing predictor outcomes.

To develop interventions to improve genetic knowledge, researchers should consider the social status and contexts of women diagnosed with breast cancer at a young age (or before 40 years old) to ensure equity in the distribution of genetic testing benefits.

Prenatal genetic testing is done throughout pregnancy to identify or diagnose birth defects. These tests aim to help families make educated decisions regarding pregnancy and reproduction, as well as aid healthcare providers in providing optimal care for pregnant women. Prenatal blood screening is performed twice during pregnancy.

The present study aims to assess the Effectiveness of video assisted teaching programme on level of knowledge and attitude regarding prenatal genetic testing among antenatal mother.

A Quasi experimental, one group pre and post experimental research design was used for this study. The study conducted in SMCH. A total of 60 study participants were recruited by using a non probability convenient sample technique, based on inclusion criteria.

The analysis revealed that most of the antenatal mothers, 24 (40%) were aged between 21 and 25 years, 33 (55%) had higher secondary education, 34 (56.6%) were private employees, 43 (71.6%) were Hindus, 46 (76.7%) were residing in urban area, 40 (66.6%) had an income of between INR 10,000 and 20,000, and 48 (80%) and 3 (30%) had friends/relatives and health care professionals as source of information.

The study found that video education on genetic testing improved patients' and increased quality of life.

Introduction : Advances in biosciences have significantly expanded our knowledge and capabilities in medicine and technology. Genetic tests can now predict hereditary predisposition or susceptibility to diseases, while gene-editing tools like CRISPR/Cas enable easy repair of disease genes in both somatic and germline cells, ensuring permanent genome correction. Despite these advancements, there is a shortage of valid instruments for studying the knowledge about these technologies. To fill this gap, our study aims to translate and validate various scales to effectively measure the public's knowledge of genetics. Methods: A convenience sample of N = 567 (Germany n = 317, Greece n = 250) participants completed a Google Forms questionnaire between December 2022 and June 2023, which included the General Knowledge of Genes and Heredity (GKGH), Knowledge about Gene-Environment Interaction (KGEI), and Knowledge of Modern Genetics and Genomics (KMGG) questionnaires. Analyses included internal consistency, structural validity, construct validity, and retest reliability with a subset of n = 72 (DE) and n = 50 (GR). Correlation analyses and group differences were evaluated for gender, education, religiosity, age, prior experience with genetic testing, and preferences toward potential providers of genetic testing. This study used the STROBE checklist for reporting. Results: The GKGH exhibited low values in internal consistency and item analysis, along with a ceiling effect within the German group. However, it demonstrated good values in retest and construct validity. In the Greek group, all properties were highly satisfactory. The KMGG consistently displayed excellent properties across all analyses, whereas the KGEI only showed convincing results in construct validity and item analysis. Discussion: The GKGH and KMGG demonstrated strong psychometric properties with varying difficulty levels dependent on the sample, with the German sample demonstrating a notably higher understanding of genetic technologies. Despite displaying acceptable properties, the KGEI fell short of measuring what its title suggests. Participants' level of education showed a significant correlation with knowledge of genetic technologies, and only in the Greek sample did experiences with genetic tests influence knowledge. Preferences regarding availability of genetic testing are comparable between the two countries, with variations influenced by factors such as age, gender and religiosity.

Health advances due to developments in genomic medicine are unequally experienced in the USA; racial differences in the uptake of genetic testing are one factor in this disparity. In collaboration with Black patients and diverse health care providers, we are developing a patient-centered video intervention to increase cancer genetic testing among eligible Black Americans. The objective of the pilot work is to explore the acceptability of and support for the intervention and key content components.

In order to create a patient-centered video intervention prototype, we conducted a targeted, secondary analysis of 47 coded transcripts from video-taped qualitative interviews with people with a known genetic or inherited cancer risk. The review focused on decision-making, testing experiences, and perceived value of genetic testing. We subsequently generated a 15-min video montage of content from 9 diverse (age, gender, race) participants. We used the prototype video as prompt material for semi-structured interviews with 10 Black patients who had undergone genetic testing in the last 2 years and 10 racially diverse providers (genetic counselors, a nurse, and medical oncologists) who provide management recommendations for high-risk patients. Interviews sought to understand the acceptability of a video intervention to enhance informed decision-making by Black patients and key elements for intervention efficacy.

Study participants were generally positive about the prototype video and provided guidance for intervention development. Interviewed patients prioritized perceived authenticity and relatability of video participants. The presentation of patients' perspectives on testing, their experiences of testing, and the benefits of having test results were all seen as useful. The benefits of testing for self and family were identified as important considerations. Privacy concerns and science skepticism were identified as germane issues, with guidance to present barriers to testing alongside possible solutions. The inclusion of clinicians was seen as potentially useful but with caution that clinicians are not universally trusted.

Study findings provided critical input for the creation of a professionally produced, tailored intervention video for a randomized clinical trial with Black Americans to evaluate the influence on uptake of genetic testing. The interviews suggest the acceptability and potential utility of an authentic, realistic, and tailored, patient-centered video intervention to increase consideration and uptake of genetic testing.

Engagement with genomic medicine and research has increased globally during the past few decades, including rapid developments in Sri Lanka. Genomic research is carried out in Sri Lanka on a variety of scales and with different aims and perspectives. However, there are concerns about participants' understanding of genomic research, including the validity of informed consent. This article reports a qualitative study aiming to explore the understanding, knowledge, and attitudes of the Sri Lankan public towards genomic medicine and to inform the development of an effective and appropriate process for informed consent in that setting. Purposive sampling was employed. Participants were recruited from a sub-group of the public in Colombo, Sri Lanka who had either consented or refused to donate genetic material for a biobank. Data were collected using face-to-face semi-structured interviews. Interview data were transcribed verbatim and translated into English. Conventional content analysis was used. The analysis developed three key themes: a) 'Scientific literacy' describes an apparent lack of scientific knowledge that seems to affect a participant's ability to understand the research, b) 'Motivation' describes narratives about why participants chose (not) to take part in the research, despite not understanding it, and c) 'Trust' describes how trust served to mitigate the apparent ethical deficit created by not being fully informed. In this article, we argue that informed trust is likely an acceptable basis for consent, particularly in settings where scientific literacy might be low. However, researchers must work to be worthy of that trust and ensure that misconceptions are actively addressed.

Aim: To understand awareness, knowledge and preferences regarding genetic testing among the USA general public. Methods: A cross-sectional online survey using a Qualtrics Panel. Results: Among 1600 respondents, 545 (34%) were White, 411 (26%) Black, 412 (26%) Hispanic or Latin(x) and 232 (15%) Asian. Most had heard of ancestry testing (87%) and genetic health risk testing (69%), but a third thought inherited genes were only a little or not at all responsible for obesity (36%) and mental health (33%). The majority preferred pre-emptive pharmacogenetic testing (n = 74%) compared with reactive testing. Statistically significant differences between racial/ethnic groups and rural-urban respondents were observed. Conclusion: Most preferred pre-emptive pharmacogenetic testing; however, about one-quarter preferred reactive testing. Preferences should be discussed during patient-clinician interactions.

Introduction: The practice of informed consent (IC) for pharmacogenomic testing in clinical settings varies, and there is currently no consensus on which elements of IC to provide to patients. This study aims to assess current IC practices for pharmacogenomic testing. Methods: An online survey was developed and sent to health providers at institutions that offer clinical germline pharmacogenomic testing to assess current IC practices. Results: Forty-six completed surveys representing 43 clinical institutions offering pharmacogenomic testing were received. Thirty-two (74%) respondents obtain IC from patients with variability in elements incorporated. Results revealed that twenty-nine (67%) institutions discuss the benefits, description, and purpose of pharmacogenomic testing with patients. Less commonly discussed elements included methodology and accuracy of testing, and laboratory storage of samples. Discussion: IC practices varied widely among survey respondents. Most respondents desire the establishment of consensus IC recommendations from a trusted pharmacogenomics organization to help address these disparities.

Genetic knowledge and familiarity among the population represent the lane toward effective participation in social decisions regarding genetic issues. This cross sectional research aimed to assess genetic knowledge and familiarity among university students in Palestine.

The familiarity with genetics was evaluated using the Genetic Literacy and Comprehension instrument (GLAC), and genetic knowledge was measured using a 16-item scale of prevalent genetic concepts.

Among the 624 participants, 59.5% were females. 38.8% reported family history of genetic diseases. The genetic familiarity mean score was 4.83 and the genetic knowledge mean total score was 11.5. Students' genetic familiarity was high for the terms chromosome and genetic while it was low for the terms sporadic and vulnerability. Genetic knowledge was highest for gene definition while it was the lowest regarding the number of human genes. The age group, year of study, and learning genetic courses were the significant predictors of familiarity among medical students. The year of study, family history of genetic diseases, parental consanguinity, and learning genetic courses were the significant variables associated with genetic knowledge among medical students. Regarding the non-medical group of participants, all study variables were significant for both familiarity and knowledge scores except for age group with familiarity.

Genetic familiarity and knowledge among Palestinian university students are inadequate. Consanguinity and hereditary disorders are prevalent in Palestine. These findings encourage university stakeholders to take action to improve genetic knowledge and familiarity among students through both appropriate pedagogical and non-pedagogical interventions.

With the rapid expansion of genomic medicine, more citizens are compelled to think about genetics in their daily lives. This study aims to explore appropriate types of educational media and methods to enlighten activities for genetics and hereditary cancer. We presented an 18-min YouTube video on genetics and hereditary cancer to participants at a scientific event, Science Agora 2020, and administered a web questionnaire to investigate their opinions about when and how citizens should start learning about genetics and hereditary cancer. We recruited 133 participants who watched the video, and 26.3% (35/133) responded to the questionnaire. Most of them were evaluated to understand and appreciate the contents of the video. They identified websites, or videos as suitable learning media, irrespective of their sex, age, or profession. They highlighted upper elementary school or junior high school as appropriate educational stages to start learning about genetics and hereditary cancer to facilitate collecting their own genetic information by themselves. Our findings show that educational institutions should provide opportunities to learn about genetics and hereditary cancers, especially for upper elementary school and junior high school students, using learning media, such as videos, depending on their level or demand.

In the 20 years since the completion of the Human Genome Project, the gap between scientific development and public understanding of genome research has been widening. While genome research has been increasingly utilized for social and clinical purposes in a multifaceted manner, this has resulted in an increase in the potential risks associated with genomic data. In this context, our study aims to consider the nature of public perceptions of genome research, primarily by using as a case study the results of previous public surveys relevant to donations for social benefits in Japan. We explored certain types of awareness, attitude, and intention (A-A-I) in such surveys and discussed the resultant key findings through the cultural transmission framework. Reframing the public's response toward genome research based on A-A-I analysis and behavioral science may contribute to developing more systematic communication approaches with the public. With a view to establishing such approaches, our perspective suggests some new insights to discuss the science-society gap in genome research internationally.

There is limited research on the relationship between structural environmental factors and genomics-related knowledge, self-efficacy, perceived importance, and communication. We examined the potential impact of racial segregation on these genomics-related outcomes among medically underserved patients.

We analyzed data from a sample of 546 patients recruited from a primary care clinic in St. Louis, Missouri. Multivariable models were used to examine associations between racial composition of social environments across the life course and genomics-related knowledge, self-efficacy, perceived importance, and communication.

Non-Hispanic White patients reporting multiple past White social environments had higher genetic knowledge than non-Hispanic White patients reporting one or no past White social environments (P = .021), Black patients reporting 1 or no past White social environments (P = .002), and Black patients reporting multiple past White social environments (P < .001). We also found that among those reporting multiple current White social environments, Black patients were more likely than non-Hispanic White patients to frequently communicate about family history with family (P = .003).

These findings indicate that structural factors may affect understanding of genetic information and communication about family history among medically underserved patients. Targeted interventions may increase the use of genetic services among this population and reduce health inequities.

Understanding reasons for why people choose to have or not to have a genetic test is essential given the ever-increasing use of genetic technologies in everyday life. The present study explored the multiple drivers of people's attitudes towards genetic testing. Using the International Genetic Literacy and Attitudes Survey (iGLAS), we collected data on: (1) willingness to undergo testing; (2) genetic literacy; (3) motivated cognition; and (4) demographic and cultural characteristics. The 37 variables were explored in the largest to-date sample of 4311 participants from diverse demographic and cultural backgrounds. The results showed that 82% of participants were willing to undergo genetic testing for improved treatment; and over 73%-for research. The 35 predictor variables together explained only a small proportion of variance: 7%-in the willingness to test for Treatment; and 6%-for Research. The strongest predictors of willingness to undergo genetic testing were genetic knowledge and deterministic beliefs. Concerns about data misuse and about finding out unwanted health-related information were weakly negatively associated with willingness to undergo genetic testing. We also found some differences in factors linked to attitudes towards genetic testing across the countries included in this study. Our study demonstrates that decision-making regarding genetic testing is influenced by a large number of potentially interacting factors. Further research into these factors may help consumers to make decisions regarding genetic testing that are right for their specific circumstances.

Genetic testing is the gold standard for the diagnosis of hereditary colorectal cancer syndromes but is currently inadequate and nonideal. The decision-making processes regarding genetic testing are even less well known. The present study aims to explore the decision-making experience of genetic testing for colorectal cancer patients and their family members.

A descriptive qualitative study was employed. Data were collected using individual semi-structured interviews with 5 colorectal cancer patients and 20 family members from November 2020 to April 2021. Interviews were transcribed and analysed using inductive content analysis.

Four categories were identified: 1) the source of information for genetic testing, 2) the differentiated attitudes towards genetic testing, 3) genetic testing decisional needs, and 4) the factors influencing genetic testing decision-making. Colorectal cancer patients and their families engaged in two distinct pathways to genetic testing decisions: direct decision-making and indirect decision-making. Throughout these processes, due to the limited source of information, they had information needs that were met and facilitated genetic testing decision-making.

Colorectal cancer patients and family members need knowledge related to genetic testing, but they have limited access to information, which prevents them from making informed decisions. Providing decision aid interventions and informational support are significant steps towards addressing the support needs of this population.

The adoption and implementation of genomic medicine and pharmacogenomics (PGx) in healthcare systems have been very slow and limited worldwide. Major barriers to knowledge translation into clinical practice lie in the level of literacy of the public of genetics and genomics. The aim of this study was to assess the knowledge, attitudes, and perceptions of the United Arab Emirates (UAE) multi-ethnic communities toward genomic medicine and genetic testing.

A cross-sectional study using validated questionnaires was distributed to the participants. Descriptive statistics were performed, and multivariable logistic regression models were used to identify factors associated with knowledge of genomics.

757 individuals completed the survey. Only 7% of the participants had a good knowledge level in genetics and genomics (95% CI 5.3-9.0%). However, 76.9% of the participants were willing to take a genetic test if their relatives had a genetic disease. In addition, the majority indicated that they would disclose their genetic test results to their spouses (61.5%) and siblings (53.4%).

This study sets the stage for the stakeholders to plan health promotion and educational campaigns to improve the genomic literacy of the community of the UAE as part of their efforts for implementing precision and personalized medicine in the country.

As polygenic risk scores (PRSs) enter clinical practice, health care providers' and the publics' comprehension of PRS results are of great importance; yet, they are poorly understood. We present the Vanderbilt polygenic risk scores knowledge scale (Vanderbilt PRS-KS), a tool to quantify PRS knowledge.

The Vanderbilt PRS-KS was developed by a team of genetic counselors and physicians to cover key conceptual facts pertaining to PRSs. We recruited (n = 500) individuals with demographics representative of a U.S. sample and graduate-level health care students (n = 74) at a large academic medical center to participate in this validation study. We evaluated the Vanderbilt PRS-KS's psychometric properties using confirmatory factor analysis and item response theory.

The 7-item Vanderbilt PRS-KS correlated to a single latent construct on confirmatory factor analysis (Λ = 0.31-0.61). The scale showed promising reliability (Cronbach's α = 0.66) with item response theory summed scores of ≥2 to ≤5, demonstrating reliability >0.70. The Vanderbilt PRS-KS significantly correlated with genetic knowledge and applied PRS knowledge (r = 0.55 and r = 0.29), and graduate-level health care students scored significantly higher compared with the U.S. representative sample (P < .01).

The Vanderbilt PRS-KS is a rigorously validated measure to quantify PRS knowledge. Clinicians should tailor future PRS knowledge interventions to the identified knowledge gaps, including PRS inheritance, equity of performance in different ethnicities, and integration with other health determinants.

The most challenging step in clinical research studies is patient recruitment. Many research studies do not reach their targets because of participant rejection. The purpose of this study was to assess patient as well as the community knowledge, motivation, and barriers to participate in genetic research.

A cross-section study was conducted between September 2018 and February 2020 using face-to-face interviews with candidate patients from outpatient clinics at King Fahad Medical City (KFMC), Riyadh, Saudi Arabia. Additionally, an online survey was conducted to assess the community's knowledge, motivation and barriers to participate in genetic research studies.

In total, 470 patients were interviewed for this study, with 341 being successfully recruited for the face to face interview, and the other patients being refused owing to time constraints. The majority percentage of the respondents were females. The respondents' mean age was 30, and 52.6% reported having a college degree. The survey results from 388 participants illustrated that around 90% of the participants, participated voluntarily due to a good understanding of genetics studies. The majority held positive attitudes toward being part of genetic research, which exceeded the reported motivation score of >75%. The survey indicated that >90% of individuals were willing to participate to acquire therapeutic benefits or to receive continued aftercare. However, 54.6% of survey participants were worried about the side effects and the risks involved in genetic testing. A higher proportion (71.4%) of respondents reported that lack of knowledge about genetic research was one of the barriers to rejecting participation.

Respondents reported relatively high motivation and knowledge for participation in genetic research. However, study participants reported "do not know enough about genetic research" and "lack of time during clinic visit" as a barrier for participation in genetic research.

New health technologies and data offer tailored prevention and spot-on treatments, which can considerably reduce healthcare costs. In healthy individuals, insurers can participate in the creation of health capital through data and preventing the occurrence of a disease. In the onset of a disease, sequencing an individual's genome can provide information leading to the use of more efficient treatments. Both improvements are at the core of the "personalized health" paradigm. As a positive side effect, a reduction in healthcare costs is expected. However, the integration of personalized health in insurance schemes starts with a closer understanding of the demand drivers.

Using novel data from a survey carried out in Switzerland, we determine the factors influencing the uptake and sharing of data from genetic tests. In our regression analyses, we use five sets of socioeconomic, lifestyle, health insurance, sentiment, and political beliefs variables. Furthermore, two framings assess the willingness to undertake a test and the readiness to share results with an insurer when the costs of the test are borne by the insurer or the individual.

We find that socioeconomic, lifestyle, or political belief variables have very little influence on the uptake of tests and the sharing of data. On the contrary, our results indicate that sentiment and insurance factors play a strong role. More precisely, if genetic tests are perceived as a mean to perform health prevention, this pushes individuals to take them. Furthermore, using the insurer's smartphone app leads to an increase of the likelihood to undergo a test and doubles the probability to share related data. Regarding insurance plans and deductible levels, there is no strong correlation neither with the willingness to take a test nor to share the data. Finally, individuals with complementary health insurance plans are less likely to share results. From the framings for the payment of genetic tests, our results indicate a positive effect of the insurer as a payer on the willingness to undertake tests as well as on data sharing.

Our results lay the ground for a deeper understanding of the role of payers on health decisions and sharing of health-related data. In particular, we find that it is relevant for health insurers to engage with their clients.

This study explored perceptions, preferences and attitudes towards disclosure of genetic testing results for stroke among stroke-free controls (and their family members) in the SIREN-SIBS Genomics Study, healthcare providers and policymakers.

We conducted a qualitative thematic analysis of key informant interviews with 61 participants recruited from community advisory boards (30) and health care providers (31) across seven sites in Nigeria and Ghana.

Major findings illustrate differences in the knowledge of genetic testing with superior knowledge among health care professionals. Relatives and religious leaders were opined as the best to receive the disclosure as they would be able to break the news to the patient in a culturally sensitive manner to reduce the likely resultant emotional outburst. Poor level of awareness of national guidelines for disclosing genetic results exist. Key facilitating factors for disclosure are education, enabling environment, involvement of religious and community leaders, campaigns, and possible treatment options. Disclosure inhibitors include inadequate information, fear of marital break-up or family displacement, fear of stigmatization, fear of isolation, religious beliefs, health worker attitude, and lack of preparedness to accept results.

These necessitate culturally sensitive interventions for continuing education, increased awareness and sustained engagement to equip all stakeholders in genetic testing disclosure process.

Familial Mediterranean fever is an autoinflammatory autosomal recessive disorder common among individuals of Mediterranean descent. It is characterized by recurrent episodes of fever accompanied by peritonitis, pleurisy, pericarditis, and/or arthritis, sometimes accompanied by an erysipelas-like rash. Mimicking manifestation of other inflammatory conditions and the diversity of symptoms leads to insufficient knowledge and understanding. General knowledge about this disease is considered low in most populations, but this bears greater consequences in people with high incidence rates. This study investigates the knowledge of familial Mediterranean fever among a group of medical students in public and private Syrian universities.

A cross-sectional study was conducted in May 2022, and an international standard-based electronic questionnaire was adopted. The study included 758 current undergraduate medical scope students from public and private universities in Syria. The survey used for this study included inquiries made to assess awareness using global standards. It was divided into 2 sections, with 7 questions focusing on sociodemographic characteristics and 17 questions assessing the students' understanding of Familial Mediterranean fever.

Our analysis showed strong correlations between the knowledge of Familial Mediterranean fever and certain specialization, college, academic year, and marital status. The mean score of answers was 9.39 out of 17 for all participants. The mean score of answers for medical students was 10.01 out of 17, while it was 8.81 for pharmaceutical students and 6.51 for dental students. These differences were statistically significant, p-value <0.001. This means medical students know better than pharmaceutical students, who already have better knowledge than dental students.

We conclude that medical scope students' knowledge about the disease of Familial Mediterranean fever and its management is ineffective, especially among dental students, even in a country with high prevalence rates for Familial Mediterranean fever like Syria.

Breast cancer is the most commonly diagnosed cancer among Chinese American women. Knowing the BRCA1 and BRCA2 (BRCA1/2) gene mutation status can improve breast cancer patients' health outcomes by guiding targeted treatment towards preventing breast cancer recurrence and other BRCA-related cancers. Nevertheless, it is unclear if there is a disparity in knowledge and use of BRCA testing among Chinese American breast cancer patients. This cross-sectional study investigated the possible presence of differences in the knowledge and the use of BRCA testing between Chinese American and Non-Hispanic White (NHW) breast cancer patients. We surveyed 45 Chinese American and 48 NHW adult breast cancer patients who had been diagnosed with breast cancer within the previous two years through telephone interviews. The results showed that race was not statistically related to the use of BRCA testing. BRCA testing utilization was associated with family history (p < 0.05) and age (p < 0.05). However, Chinese American participants' understanding of BRCA testing was significantly lower than that of NHW participants (p = 0.030). Our findings suggest that a disparity exists in BRCA testing knowledge between Chinese American and NHW breast cancer patients. Genetic education and counseling are needed to improve BRCA testing knowledge and uptake among Chinese American breast cancer patients.

Introduction: Pharmacogenetic testing may hold promise in addressing health disparities, as medically underserved patients appear to be prescribed medications with pharmacogenetic guidelines at higher rates. While routine clinical implementation of testing in medically underserved populations has not yet been achieved, using patient perspectives to inform implementation should increase the likelihood of success. The aim of this study was to assess the perceptions, knowledge, and attitudes regarding pharmacogenetic testing in medically underserved patients. Methods: We developed a survey instrument to assess respondent views on pharmacogenetic testing. The survey instrument was developed through a process of literature review, expert input, iterative pilot testing, and final refinement. The survey instrument was fielded to US adults with an estimated household income of $42,000 per year or less. Results: During the survey instrument development, 59 pilot testers provided 133 comments which lead to 38 revisions to the survey instrument. The nationwide survey resulted in 1,060 respondents, of which half (49.8%) reported having no health insurance or being on Medicaid. Most patients (78.9%) had not previously heard of pharmacogenetic testing. After being provided an explanation of pharmacogenetic testing, 60.5% were very or moderately interested in receiving testing if there were no cost and 75.8% of respondents agreed or strongly agreed that pharmacogenetic testing should be available to help with medication selection regardless of cost. Respondents shared that their greatest concern with pharmacogenetic testing was that the test would cost them money, which was expressed by over half (52.7%). This was followed by concerns that the results could reveal a risk for a disease, could affect health insurance, and would not improve care. Discussion: Our results indicate a strong interest in pharmacogenetic testing and identify key perceptions, attitudes, concerns, and potential barriers that can be addressed as pharmacogenetic testing is clinically implemented in medically underserved patient populations.

The world has been experiencing encouraging research in genetics, but current public knowledge, awareness, and perception of this area remain unknown for Brunei Darussalam. This study aimed to investigate the Brunei population's genetics and genetic testing literacy, and their attitude toward them. A cross-sectional study was carried out targeting public population in Brunei Darussalam. Questionnaires on knowledge and attitudes were randomly distributed in frequented venues in the Brunei-Muara district and uploaded online for distribution through social media. Responses were scored and analyzed using appropriate statistical methods. Overall, the sample population (n = 474) comprised 75.7% female, 64.3% aged 18-29 years old, 39.7% with a bachelor's degree, and 2.3% and 5.3% with a personal history and family history of genetic disease(s), respectively. Younger participants scored higher for disease-related questions and showed more concern on the impact of testing on employment but were more fearful of testing. Higher educational qualifications were associated with a higher knowledge score, a more optimistic view on DNA research, and less reluctance to take a genetic test for an untreatable disease. Participants with a personal history of genetic disease(s) were more knowledgeable and displayed higher curiosity. Participants with a family history of genetic disease(s) were also more knowledgeable and would want testing even for an untreatable disease. Significantly less was known about the social consequences of testing compared to the medical possibilities. Investigating the knowledge and attitudes of the population is vital preceding efforts toward national adaptation of genetic testing, keeping in mind the various obstacles and issues surrounding the subject.

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.

Studies from various countries have shown that majorities would accept genetic testing for personalization of treatment, but little is known about differences among population subgroups. The present study investigated whether readiness to accept a hypothetical cost-free offer of genetic testing to personalize treatment depends on socio-demographic characteristics, health-related vulnerabilities, personal dispositions, and prior awareness about personalized medicine. The study was based on a cross-sectional survey design. Out of a representative initial sample of 50-80-year-old Danish citizens (n = 15,072), n = 6807 returned a fully answered web-based questionnaire. Socio-demographic data were added from a national registry. Data were analyzed by multivariable logistic regression. A large majority of respondents (78.3%) expressed their readiness to be tested. Rates were higher in men, younger persons, and those with higher income. Additionally, ex-smokers and obese persons as well as those less satisfied with their health and respondents who perceived a personal genetic risk were more interested, as were those with higher internal health control, higher extraversion, higher emotional stability, and those who had not heard about this option before. Further research should investigate the specific concerns among population subgroups which need being addressed by systematic communication efforts in a clinical but also a broader public health context.

We construct a polygenic health index as a weighted sum of polygenic risk scores for 20 major disease conditions, including, e.g., coronary artery disease, type 1 and 2 diabetes, schizophrenia, etc. Individual weights are determined by population-level estimates of impact on life expectancy. We validate this index in odds ratios and selection experiments using unrelated individuals and siblings (pairs and trios) from the UK Biobank. Individuals with higher index scores have decreased disease risk across almost all 20 diseases (no significant risk increases), and longer calculated life expectancy. When estimated Disability Adjusted Life Years (DALYs) are used as the performance metric, the gain from selection among ten individuals (highest index score vs average) is found to be roughly 4 DALYs. We find no statistical evidence for antagonistic trade-offs in risk reduction across these diseases. Correlations between genetic disease risks are found to be mostly positive and generally mild. These results have important implications for public health and also for fundamental issues such as pleiotropy and genetic architecture of human disease conditions.

Precision cancer care has reduced cancer-related mortality. However, minorities remain less likely to receive precision medicine than White populations with cancer due to language and system-level barriers. Precision medicine knowledge increases involvement in treatment decisions and receipt of such treatment. Few interventions exist that seek to improve precision medicine knowledge among low-income and racial and ethnic minorities with cancer.

We designed a randomized controlled trial to evaluate the effectiveness of a community health worker (CHW)-delivered intervention on patients' knowledge of precision medicine in partnership with a community oncology clinic in Monterey County, California. Eligibility includes adults with newly diagnosed, progression or recurrence of cancer, low-income, or racial and ethnic minorities, or uninsured, insured by Medicaid or by a local agricultural employer. We will randomize 110 patients with cancer to the intervention or usual cancer care. The intervention group will be assigned to a CHW who will deliver culturally tailored and personalized education on precision medicine and advance care planning, screen for social determinants of health barriers and connect patients to community resources. The primary outcome is precision medicine knowledge measured by a 6-item survey adapted from Davies at baseline, 3-, 6- and 12-months post-enrollment. Exploratory outcomes include patient satisfaction with decision, activation, health care utilization, and receipt of evidence-based precision medicine care.

This trial will assess whether the CHW-led intervention can increase knowledge of precision medicine as well as several exploratory outcomes including receipt of evidence-based cancer care among low-income and racial and ethnic minority adults with cancer.

gov Registration # NCT04843332.

An understanding of genetics is becoming increasingly relevant to receiving medical care. It is important for health care providers and educators, including genetic counselors, to understand patients' perceptions about trait transmission and their interpretation of terms used in biomedicine. Knowledge about the patient perspective about trait transmission is important when health care providers are not fluent in the patient's language. Sixty Latinx immigrant adults (30 men and 30 women) who were born in Mexico or Central America (MCA) and living in North Carolina were interviewed about their heredity beliefs. By design, most participants had limited education. Eight percent had a least a high school education; 45% had less than a seventh grade education. Semi-structured, in-depth interviews were conducted to examine how participants think and discuss trait transmission. The translated transcripts were systematically analyzed using a case-based approach, supplemented by theme-based coding. Five lay mental models of heredity were identified that varied in terms of involvement of genes. Four of the five heredity mental models encompass genes; four out of five mental models do not link DNA to heredity. The centrality of blood, whether used metaphorically or literally, varies widely across the models. One model references God and depicts that heredity involves blood and/or genes, but not DNA. The mental models of heredity for most adult immigrants with limited education do not include DNA. Trait transmission by blood appears to have a more prominent role in lay mental models held by Mexicans than Central Americans. Increased patient knowledge about genetics can facilitate shared decision-making as genetics becomes increasingly relevant to medical care. Efforts to educate people can be most effective when we first understand the layperson's conceptions or mental models. Health care providers and educators should be aware that MCA adults with limited formal education hold diverse mental models about heredity.

Germline genome sequencing (GS) holds great promise for cancer prevention by identifying cancer risk and guiding prevention strategies, however research evidence is mixed regarding patient preferences for receiving GS results. The aim of this study was to discern preferences for return of results by cancer patients who have actually undergone GS. We conducted a mixed methods study with a cohort of cancer probands (n = 335) and their genetic relatives (n = 199) undergoing GS in a research setting. Both groups completed surveys when giving consent. A subset of participants (n = 40) completed semi-structured interviews. A significantly higher percentage of probands thought people would like to be informed about genetic conditions for which there is prevention or treatment that can change cancer risk compared to conditions for which there is no prevention or treatment (93% [311] versus 65% [216]; p < 0.001). Similar results were obtained for relatives (91% [180] versus 61% [121]; p < 0.001). Themes identified in the analysis of interviews were: (1) Recognised benefits of GS, (2) Balancing benefits with risks, (3) Uncertain results are perceived as unhelpful and (4) Competing obligations. While utility was an important discriminator in what was seen as valuable for this cohort, there was a variety of responses. In view of varied participant preferences regarding return of results, it is important to ensure patient understanding of test validity and identify individual choices at the time of consent to GS. The nature and value of the information, and a contextual understanding of researcher obligations should guide result return.