Psychosocial Effects of Receiving Genome-Wide Polygenic Risk Information Concerning Type 2 Diabetes and Coronary Heart Disease: A Randomized Controlled Trial.

Receiving polygenic risk estimates of future disease through health care or direct-to-consumer companies is expected to become more common in the coming decades. However, only a limited number of studies have examined if such estimates might evoke an adverse psychosocial reaction in receivers. The present study utilized data from a sub-section of a personalized medicine project (the P5 study) that combines genomic and traditional health data to evaluate participants' risk for certain common diseases. We investigated how communication of future disease risk estimates related to type 2 diabetes and coronary heart disease influenced respondents' risk perception, self-efficacy, disease-related worry, and other emotions. A randomized controlled trial was conducted, where the experimental group (n = 714) received risk estimates based on traditional and polygenic risk factors and the control group (n = 649) based solely on traditional risk factors. On average, higher disease risk was associated with higher perceived risk (ps, <0.001, ηp 2 = 0.087-0.071), worry (ps <0.001, ηp 2 = 0.061-0.028), lower self-efficacy (p <0 .001, ηp 2 = 0.012), less positive emotions (ps <0.04, ηp 2 = 0.042-0.005), and more negative emotions (ps <0.048, ηp 2 = 0.062-0.006). However, we found no evidence that adding the polygenic risk to complement the more traditional risk factors would induce any substantive psychosocial harm to the recipients (ps >0.06).

Simulating the Genetics Clinic of the Future - whether undergoing whole-genome sequencing shapes professional attitudes.

Whole-genome sequencing (WGS) can provide valuable health insight for research participants or patients. Opportunities to be sequenced are increasing as direct-to-consumer (DTC) testing becomes more prevalent, but it is still fairly unusual to have been sequenced. We offered WGS to fourteen professionals with pre-existing familiarity with an interest in human genetics - healthcare, science, policy and art. Participants received a hard drive containing their personal sequence data files (.BAM,.gvcf), without further explanation or obligation, to consider how experiencing WGS firsthand might influence their professional attitudes. We performed semi-structured pre- and post-sequencing interviews with each participant to identify key themes that they raised after being sequenced. To evaluate how their experience of the procedure evolved over time, we also conducted a questionnaire to gather their views 3 years after receiving their genomic data. Participants were generally satisfied with the experience (all 14 participants would choose to participate again). They mostly decided to participate out of curiosity (personal) and to learn from the experience (professional). Whereas most participants slightly developed their original perspective on genetic data, a small selection of them radically changed their views over the course of the project. We conclude that personal experience of sequencing provides an interesting alternative perspective for experts involved in leading, planning, implementing or researching genome sequencing services. Moreover, the personal experience may provide professionals with a better understanding of the challenges visitors of the Genetics Clinic of the Future may face.

A Web Portal for Communicating Polygenic Risk Score Results for Health Care Use-The P5 Study.

We present a method for communicating personalized genetic risk information to citizens and their physicians using a secure web portal. We apply the method for 3,177 Finnish individuals in the P5 Study where estimates of genetic and absolute risk, based on genetic and clinical risk factors, of future disease are reported to study participants, allowing individuals to participate in managing their own health. Our method facilitates using polygenic risk score as a personalized tool to estimate a person's future disease risk while offering a way for health care professionals to utilize the polygenic risk scores as a preventive tool in patient care.

Taking it to the bank: the ethical management of individual findings arising in secondary research.

A rapidly growing proportion of health research uses 'secondary data': data used for purposes other than those for which it was originally collected. Do researchers using secondary data have an obligation to disclose individual research findings to participants? While the importance of this question has been duly recognised in the context of primary research (ie, where data are collected from participants directly), it remains largely unexamined in the context of research using secondary data. In this paper, we critically examine the arguments for a moral obligation to disclose individual research findings in the context of primary research, to determine if they can be applied to secondary research. We conclude that they cannot. We then propose that the nature of the relationship between researchers and participants is what gives rise to particular moral obligations, including the obligation to disclose individual results. We argue that the relationship between researchers and participants in secondary research does not generate an obligation to disclose. However, we also argue that the biobanks or data archives which collect and provide access to secondary data may have such an obligation, depending on the nature of the relationship they establish with participants.

Diabetes and Cardiovascular Disease Risk Perception and Risk Indicators: a 5-Year Follow-up.

BACKGROUND: Perceived disease risk may reflect actual risk indicators and/or motivation to change lifestyle. Yet, few longitudinal studies have assessed how perceived risk relates to risk indicators among different disease risk groups. We examined in a 5-year follow-up, whether perceived risks of diabetes and cardiovascular disease predicted physical activity, body mass index (BMI kg/m2), and blood glucose level, or the reverse. We examined further whether perceived risk, self-efficacy, and outcome beliefs together predicted changes in these risk indicators. METHOD: Participants were high diabetes risk participants (N = 432) and low/moderate-risk participants (N = 477) from the national FINRISK 2002 study who were followed up in 2007. Both study phases included questionnaires and health examinations with individual feedback letters. Data were analyzed using gender- and age-adjusted structural equation models. RESULTS: In cross-lagged autoregressive models, perceived risks were not found to predict 5-year changes in physical activity, BMI, or 2-h glucose. In contrast, higher BMI and 2-h glucose predicted 5-year increases in perceived risks (ß-values 0.07-0.15, P-values < 0.001-0.138). These associations were similar among high- and low/moderate-risk samples. In further structural equation models, higher self-efficacy predicted increased physical activity among both samples (ß-values 0.10-0.16, P-values 0.005-0.034). Higher outcome beliefs predicted lower BMI among the low/moderate-risk sample (ß-values - 0.04 to - 0.05, P-values 0.008-0.011). CONCLUSION: Perceived risk of chronic disease rather follows risk indicators than predicts long-term lifestyle changes. To promote sustained lifestyle changes, future intervention studies need to examine the best ways to combine risk feedback with efficient behavior change techniques.

Family history and perceived risk of diabetes, cardiovascular disease, cancer, and depression.

BACKGROUND: Family history is a useful and inexpensive tool to assess risks of multifactorial diseases. Family history enables individualized disease prevention, but its effects on perceived risks of various diseases need to be understood in more detail. We examined how family history relates to perceived risk of diabetes mellitus, cardiovascular disease (CVD), cancer, and depression, and whether these associations are independent of or moderated by sociodemographic factors, health behavior/weight status (smoking, alcohol consumption, physical activity, BMI [kg/m(2)]), or depressive symptoms. METHODS: Participants were Finnish 25-74-year-olds (N=6258) from a population-based FINRISK 2007 study. Perceived absolute lifetime risks (Brewer et al., 2004; Becker, 1974; Weinstein and Nicolich, 1993; Guttmacher et al., 2004; Yoon et al., 2002) and first-degree family history of CVD, diabetes, cancer and depression, and health behaviors were self-reported. Weight and height were measured in a health examination. RESULTS: Family history was most prevalent for cancer (36.7%), least for depression (19.6%). Perceived risk mean was highest for CVD (2.8), lowest for depression (2.0). Association between family history and perceived risk was strongest for diabetes (ß=0.34, P<0.001), weakest for depression (ß=0.19, P<0.001). Adjusting for sociodemographics, health behavior, and depressive symptoms did not change these associations. The association between family history and perceived risk tended to be stronger among younger than among older adults, but similar regardless of health behaviors or depressive symptoms. DISCUSSION: Association between family history and perceived risk varies across diseases. People's current understandings on heritability need to be acknowledged in risk communication practices. Future research should seek to identify effective strategies to combine familial and genetic risk communication in disease prevention.