Patient preferences in genetic newborn screening for rare diseases: study protocol.

INTRODUCTION: Rare diseases (RDs) collectively impact over 30 million people in Europe. Most individual conditions have a low prevalence which has resulted in a lack of research and expertise in this field, especially regarding genetic newborn screening (gNBS). There is increasing recognition of the importance of incorporating patients' needs and general public perspectives into the shared decision-making process regarding gNBS. This study is part of the Innovative Medicine Initiative project Screen4Care which aims at shortening the diagnostic journey for RDs by accelerating diagnosis for patients living with RDs through gNBS and the use of digital technologies, such as artificial intelligence and machine learning. Our objective will be to assess expecting parent's perspectives, attitudes and preferences regarding gNBS for RDs in Italy and Germany. METHODS AND ANALYSIS: A mixed method approach will assess perspectives, attitudes and preferences of (1) expecting parents seeking genetic consultation and (2) 'healthy' expecting parents from the general population in two countries (Germany and Italy). Focus groups and interviews using the nominal group technique and ranking exercises will be performed (qualitative phase). The results will inform the treatment of attributes to be assessed via a survey and a discrete choice experiment (DCE). The total recruitment sample will be 2084 participants (approximatively 1000 participants in each country for the online survey). A combination of thematic qualitative and logit-based quantitative approaches will be used to analyse the results of the study. ETHICS AND DISSEMINATION: This study has been approved by the Erlangen University Ethics Committee (22-246_1-B), the Freiburg University Ethics Committee (23-1005 S1-AV) and clinical centres in Italy (University of FerraraCE: 357/2023/Oss/AOUFe and Hospedale Bambino Gesu: No.2997 of 2 November 2023, Prot. No. _902) and approved for data storage and handling at the Uppsala University (2022-05806-01). The dissemination of the results will be ensured via scientific journal publication (open access).

Women's perceptions and attitudes towards the use of AI in mammography in Sweden: a qualitative interview study.

BACKGROUND: Understanding women's perspectives can help to create an effective and acceptable artificial intelligence (AI) implementation for triaging mammograms, ensuring a high proportion of screening-detected cancer. This study aimed to explore Swedish women's perceptions and attitudes towards the use of AI in mammography. METHOD: Semistructured interviews were conducted with 16 women recruited in the spring of 2023 at Capio S:t Görans Hospital, Sweden, during an ongoing clinical trial of AI in screening (ScreenTrustCAD, NCT04778670) with Philips equipment. The interview transcripts were analysed using inductive thematic content analysis. RESULTS: In general, women viewed AI as an excellent complementary tool to help radiologists in their decision-making, rather than a complete replacement of their expertise. To trust the AI, the women requested a thorough evaluation, transparency about AI usage in healthcare, and the involvement of a radiologist in the assessment. They would rather be more worried because of being called in more often for scans than risk having overlooked a sign of cancer. They expressed substantial trust in the healthcare system if the implementation of AI was to become a standard practice. CONCLUSION: The findings suggest that the interviewed women, in general, hold a positive attitude towards the implementation of AI in mammography; nonetheless, they expect and demand more from an AI than a radiologist. Effective communication regarding the role and limitations of AI is crucial to ensure that patients understand the purpose and potential outcomes of AI-assisted healthcare.

Personalizing precision medicine: Patients with AML perceptions about treatment decisions.

BACKGROUND: This study aims to explore patients' with acute myeloid leukemia perceptions about precision medicine and their preferences for involvement in this new area of shared decision-making. METHODS: Individual semi-structured interviews were conducted in Finland, Italy and Germany (n = 16). The study population included patients aged 24-79 years. Interviews were analyzed with thematic content analysis. RESULTS: Patient's perceived lack of knowledge as a barrier for their involvement in decision-making. Treatment decisions were often made rapidly based on the patient's intuition and trust for the physician rather than on information, in situations that decrease the patient's decision capacity. The patients emphasized that they are in a desperate situation that makes them willing to accept treatment with low probabilities of being cured. CONCLUSIONS: The study raised important issues regarding patients' understanding of precision medicine and challenges concerning how to involve patients in medical decision-making. Although technical advances were viewed positively, the role of the physician as an expert and person-of-trust cannot be replaced. PRACTICE IMPLICATIONS: Regardless of patients' preferences for involvement in decision-making, information plays a crucial role for patients' perceived involvement in their care. The concepts related to precision medicine are complex and will imply challenges to patient education.

Attitudes and values among the Swedish general public to using human embryonic stem cells for medical treatment.

BACKGROUND: The use of human embryonic stem cells (ES cells) for the development of medical therapies is surrounded with moral concerns. The aim of this study was to assess the public's attitudes toward the use of ES cells for treatment of Parkinson's disease (PD) and other diseases, what factors are most important to consider when using ES cells for drug development, and if there is an association between religious beliefs and attitudes toward using ES cells for medical treatment. METHODS: A randomly selected sample of the Swedish public, aged 18-87-years-old, completed an online survey (n = 467). The survey assessed socio-demographics, religious views, perceived moral status of the embryo, and attitudes toward using ES cells for medical treatment of PD and other diseases. Adjusted odds ratios (ORs) and 95% confidence intervals (CI) for positive vs. negative attitude toward using ES cells for drug development were computed using logistic regression. RESULTS: The respondents were positive about using ES for treatment; specifically, 70% totally agreed that it is acceptable to use ES cells for treatment of PD, while 40% totally agreed that it is acceptable to use ES cells for treatment but induced pluripotent cells is just as efficient. Religion being of little importance in one's life was associated with a positive attitude toward using ES cells for treatment of PD (adjusted OR 6.39, 95% CI 2.78-14.71). The importance of being able "to access new, effective treatments against diseases that do not have any treatment available" was ranked as the most important factor to consider when using ES cells for drug development. CONCLUSION: Most respondents are positive about using ES cells for drug development, and making effective treatments accessible to those who do not have any. However, these attitudes are influenced by the specific disorder that the drug development is intended for, as well as the religious views and perceived moral status of the early embryo.

Health literacy and digital health information-seeking behavior - a cross-sectional study among highly educated Swedes.

BACKGROUND: The benefits of digital development in health care may be obscured by unequal opportunities to make use of digital resources. The aim of this study was to investigate the association of health literacy with I) accessing health check test results in the Patient Electronic Health Record (PAEHR), II) searching for information to better understand individual test results, and III) using the national health information online portal provided by the Swedish national health care system. METHODS: This cross-sectional study included data from 434 individuals, 50-64 years old, randomly selected from the Swedish population during the year 2017 to a cohort study including health examination and a web-based survey. Health literacy was assessed at baseline using the Swedish Communicative and Critical Health Literacy scale. Digital information outcomes were assessed after three months. Adjusted odds ratios (ORs) and 95% confidence intervals (CI) for the separate outcomes were computed using logistic regression. Covariates included sex, age, education, country of birth, cardiovascular risk factors at baseline, general health, risk perception, referral, and new cardiovascular risk factors detected at health examination. RESULTS: About a third of the participants (35%) had limited health literacy, while 65% had sufficient health literacy. Sufficient health literacy was associated with accessing the PAEHR (adjusted OR 1.81 95% CI 1.07-3.06) and use of the online national health information portal provided by the Swedish national health care system (adjusted OR 2.91 95% CI 1.13-7.52) but not with searching information to better understand individual test results (adjusted OR 1.29 0.75-2.20). CONCLUSIONS: Individuals with limited health literacy do not access their personal health information nor search for health information on the online national health information portal provided by the Swedish national health care system to the same extent as individuals with sufficient health literacy. More research is needed about how the level of health literacy relates to differences in online health information-seeking behavior and how digital health information sources and e-health services can be designed to ensure that the entire population has equal access to trustworthy and quality-ensured health information.

What CVD risk factors predict self-perceived risk of having a myocardial infarction? A cross-sectional study.

BACKGROUND: This study aims to identify predictors of self-perceived risk of myocardial infarction (MI). METHODS: Among 564 men and women (50-65 years; randomly selected from the Swedish population), we assessed risk perception as relative self-perceived risk compared to others (lower, same, higher) and percentage ten-year absolute risk. Predictors (added blockwise) were identified using multinomial or linear regression, providing odds ratios (ORs) or ß coefficients with their 95% confidence intervals (CI). RESULTS: The mean of self-perceived 10-year MI risk was 12%. Lower BMI (AOR 0.57, 95% CI: 0.44-0.75), low stress (AOR 2.51, 95% CI: 1.39-4.52), high level of physical activity (AOR 1.66, 95% CI:1.01-2.74), hypertension (AOR 0.42, 95% CI: 0.23-0.76), family history (AOR 0.38, 95% CI: 0.21-0.69), and poor general health (AOR 0.41, 95% CI: 0.19-0.89) predicted if respondents perceived their MI risk as lower. Poor general health (AOR 1.94, 95% CI: 1.01-3.73), family history (AOR 2.72, 95% CI: 1.57-4.72), and high cholesterol (AOR 2.45, 95% CI: 1.18-5.09) predicted if respondents perceived their MI risk as higher. Low level of self-perceived CVD knowledge and low numeracy predicted if respondents perceived their MI risk as the same as others. High cholesterol (B 6.85, 95% CI: 2.47-11.32) and poor general health (B 8.75, 95% CI: 4.58-13.00) predicted a higher percentage of perceived ten-year risk. CONCLUSION: General health was a common predictor of self-perceived MI risk. Lifestyle factors (BMI, physical activity) and stress dominated the predictors for perceiving MI risk as lower than others, while high cholesterol predicted perception of high risk.

Perceptions on using surplus embryos for the treatment of Parkinson's disease among the Swedish population: a qualitative study.

BACKGROUND: Human embryonic stem cells are currently used for developing treatment against Parkinson's disease (PD). However, the use of ES cells is surrounded with moral concerns. Research regarding the public's attitudes can form an important basis for policymaking. The aim was to explore the perceptions of the public on using donated human embryos for developing treatment of Parkinson's Disease. METHODS: Semi-structured individual qualitative interviews were conducted with 11 members of the general population in Sweden. Interviews were analyzed with thematic content analyses. RESULTS: Four categories and additional sub-categories; Different views on the embryo requires delicacy, Using embryos to treat Parkinson's disease, Doing things in the right way, and Communication, media, and public opinion. In general, respondents were positive towards the usage of embryotic stem cells to treat PD, but the usage were conditioned and specific terms were demanded. Informed consent from both donors were required and delicacy and sensitivity when working with embryos were needed. CONCLUSIONS: It was perceived better to use surplus embryos to treat PD increase is than to discard them, also among those who perceived the embryo as "a potential life." The participants raised several conditions under usage for treatment should be allowed. Even if the embryos otherwise are going to be discarded, usage requires informed consent from the donating couples.

Public perceptions of myocardial infarction: Do illness perceptions predict preferences for health check results.

Illness perceptions are associated with attitudes towards preventive behaviors and are therefore crucial to consider in the context of prevention of cardiovascular diseases. We investigated illness perceptions of the public about myocardial infarction, and whether they predict public preferences for health check test results. A randomly selected sample (N = 423) of the Swedish public aged 40-70 completed an online-survey. It included the brief illness perception questionnaire, items assessing sociodemographic, lifestyle and health factors and a discrete choice experiment incorporating six attributes of health checks (written results, notification method, consultation time, waiting time, lifestyle recommendation and cost). Associations between illness perceptions and sociodemographic- and cardiovascular risk factors were analyzed using multivariate linear regression. Preference data were analyzed with a mixed multinomial logit model. Presence of smoking, hypertension, obesity and lack of physical activity were associated with weaker causal beliefs for the relevant risk factor, while presence of a high stress level was associated with stronger causal beliefs for stress. Low control predicted unwillingness to receive lifestyle recommendations. Attributing family history as the most important personal cause of MI predicted unwillingness to participate in health checks. Illness perceptions differed due to presence of risk factors, age, sex and health literacy. Furthermore, illness perceptions influenced preferences for health check test results and willingness to participate in health checks. Illness perceptions should therefore be addressed when designing health communication and preventive interventions such as health checks, and methods for promoting accurate illness perceptions should be developed.

Communicating Test Results from a General Health Check: Preferences from a Discrete Choice Experiment Survey.

BACKGROUND: Health checks can detect risk factors and initiate prevention of cardiovascular diseases but there is no consensus on how to communicate the results. The aim of this study was to investigate the preferences of the general population for communicating health check results. METHODS: A randomly selected sample of the Swedish population aged 40-70 years completed a discrete choice experiment survey that included questions on sociodemographics, lifestyle and health and 15 choice questions consisting of six attributes (written results, notification method, consultation time, waiting time, lifestyle recommendation and cost). Data were analyzed with a latent class analysis (LCA). Relative importance of the attributes and predicted uptake for several scenarios were estimated. RESULTS: In the analysis, 432 individuals were included (response rate 29.6%). A three-class LCA model best fit the data. Cost was the most important attribute in all classes. Preferences heterogeneity was found for the other attributes; in Class 1, receiving consultation time and the written results were important, respondents in Class 2 dominated on costs and respondents in Class 3 found consultation time, waiting time and lifestyle recommendations to be important. Health literate respondents were more likely to belong to Class 3. The predicted uptake rates ranged from 7 to 88% for different health checks with large differences across the classes. CONCLUSION: Cost was most important when deciding whether to participate in a health check. Although cost was the most important factor, it is not sufficient to offer health checks free-of-charge if other requirements regarding how the test results are communicated are not in place; participants need to be able to understand their results.

Good general health and lack of family history influence the underestimation of cardiovascular risk: a cross-sectional study.

AIMS: Underestimation of cardiovascular risk may interfere with prevention of cardiovascular diseases (CVDs). We investigate whether general health and family history of myocardial infarction (MI) are associated with underestimation of perceived cardiovascular risk, and if the participants' calculated risk modifies that association. METHODS AND RESULTS: The analysis sample consisted of 526 individuals, 50-64 years old, from a population-based cohort study. Information on general health (poor/fairly good, good, and very good/excellent), family history of MI, and self-perceived risk relative to others of similar age and sex were collected though a web-based survey. Participants were categorized into underestimation (n = 162, 31%), accurate estimation (n = 222, 42%), and overestimation (n = 142, 27%) of cardiovascular risk by comparing calculated Systematic Coronary Risk Estimation (SCORE) with self-perceived risk. Adjusted odds ratios (ORs) and 95% confidence intervals (CIs) for underestimation vs. accurate estimation of cardiovascular risk were computed using logistic regression (n = 384). Very good general health (OR 2.60, 95% CI 1.10-6.16) and lack of family history (OR 2.27, 95% CI 1.24-4.18) were associated with underestimation of cardiovascular risk. The associations were modified by the participants' calculated risk level; the association was stronger for high-risk individuals; without family history OR 22.57 (95% CI 6.17-82.54); with very good/excellent health OR 15.78 (95% CI 3.73-66.87). CONCLUSION: A good general health and the lack of family CVD history can obscure the presence of other risk factors and lead to underestimation of cardiovascular risk, especially for high-risk individuals. It is, therefore, crucial to address the fact that the development of CV disease may be silent and multifactorial.

Short-term mental distress in research participants after receiving cardiovascular risk information.

BACKGROUND: Understanding of how cardiovascular risk information influence individuals is critical for the practice of risk assessment and the management of patients with cardiovascular disease. OBJECTIVES: The objective of this study was to investigate change in mental distress among research participants after undergoing a cardiovascular risk assessment and receiving individual test results. METHODS: In 2017, a questionnaire measuring mental distress after taking part in a risk assessment was distributed among 615 participants in the Swedish Cardiopulmonary Bio Image Study in Uppsala, Sweden, aged 50-64 years. Outcome measures were re-assessed after three months (30% were lost to follow-up). RESULTS: There were no differences in outcomes after three months for participants with normal test results or for participants who were referred to primary health care. Mental distress increased in participants who were referred to the hospital, and were further explained by the fact that these participants were diagnosed with coronary artery stenosis. CONCLUSIONS: CV risk information can be provided to individuals with lower levels of risk without concerns of inducing mental distress. However, in order to prevent unnecessary worry in contexts similar to this study, one should be prepared for different risk outcomes and plan for support for individuals with higher risk. The increased utility of powerful, yet not fully mature, imaging techniques requires careful considerations extending beyond medical risks and benefits; the clinician must also take into account the risk of mental distress and secure support when necessary.