Serena Oliveri

Living at Risk: Factors That Affect the Experience of Direct-to-Consumer Genetic Testing

From the Interdisciplinary Research Center on Decision Making Processes, Department of Health Sciences, University of Milan (S.O., M.M., G.P.), and Applied Research Unit for Cognitive and Psychological Science, European Institute of Oncology (S.O., C.R., M.M., G.P.), Milan, Italy. I n the past decades, genomic medicine has become a cornerstone of personalized medicine, which aims to tailor prevention and treatment to each patient’s unique characteristics, including the makeup of one’s tumor or infectious microbes. According to this perspective, identifying individual risk factors and predicting latent diseases may allow the development of personalized interventions and, together with personal and environmental factors, decrease the probability of disease development. Within this framework, the increased accessibility of direct-to-consumer genetic testing (DTC-GT) leads to a situation whereby individuals find that they are asked to directly manage the available information without necessarily understanding its real meaning. Personal genomics companies provide DTC-GT that can be categorized across prediction (susceptibility testing), detection (disease-specific testing), and care selection (pharmacogenomics). Personal genome services include the testing ofmore than amillion single-nucleotide polymorphisms and yield information for more than 250 health-related traits. The complexity of such information conveyed is related first of all to its 2-fold nature, which may be interpreted by consumers as both predictive and diagnostic. This may imply that individuals should then be able to regulate their lifestyle according to the evidence derived from the DTC-GT. However, the complexity resides in the variety of information that the consumers find themselves unable to interpret, which may well leave individuals defenseless in the face of their own genetic heritage. In fact, complicated and potentially unreliable data outside the medical and counseling contexts may lead to inappropriate health decisions, which in turn may result in increased health care costs without clear benefits. Critically, studies focusing on the effect of DTC-GT are characterized by predominantly hypothetical contents, nonsignificant psychosocial

Health orientation, knowledge, and attitudes toward genetic testing and personalized genomic services: Preliminary data from an Italian sample

Objective. The study aims at assessing personality tendencies and orientations that could be closely correlated with knowledge, awareness, and interest toward undergoing genetic testing. Methods. A sample of 145 subjects in Italy completed an online survey, investigating demographic data, health orientation, level of perceived knowledge about genetic risk, genetic screening, and personal attitudes toward direct to consumer genetic testing (DTCGT). Results. Results showed that respondents considered genetic assessment to be helpful for disease prevention, but they were concerned that results could affect their life planning with little clinical utility. Furthermore, a very high percentage of respondents (67%) had never heard about genetic testing directly available to the public. Data showed that personality tendencies, such as personal health consciousness, health internal control, health esteem, and confidence, motivation to avoid unhealthiness and motivation for healthiness affected the uptake of genetic information and the interest in undergoing genetic testing. Conclusions. Public knowledge and attitudes toward genetic risk and genetic testing among European countries, along with individual personality and psychological tendencies that could affect these attitudes, remain unexplored. The present study constitutes one of the first attempts to investigate how such personality tendencies could motivation to undergo genetic testing and engagement in lifestyle changes.

Toward an in-depth profiling of DTC users

To the Editor: Agurs-Collins et al. (1) recently analyzed data from the 2013 US Health Information National Trend Survey (HINTS) concerning the levels of public awareness of Direct-to-Consumer genetic testing (DTC-GT), the factors associated with public awareness of DTC-GT, and the main sources of information about testing. They reported that more than one third of citizens were aware of DTC-GT, the majority being those who actively seek information on cancer, use Internet and have high numeracy skills. Results highlighting an increased knowledge for DTC-GT services are an example of how individuals demand to have an active role in managing their health. However, awareness of health management possibilities does not automatically translate into awareness of health responsibility, and consequent decisions or life style changes. In a recent meta-analysis, Marteau et al. (2) assessed the effect of receiving DNA-based risk information for diseases whose risk could be reduced by behavioral change. The authors reported that communicating DNA-based risk does not produce any remarkable change in life style, despite recognizing the poor quality of included studies in literature. The knowledge of being genetically predisposed to a disease might give individuals a reason to avoid or to cope with manageable factors in order to counterbalance their risk. Nevertheless, focusing on the cognitive factors described by Agurs-Collins et al. (1) such as numeracy, seeking behaviors and Internet use, may only provide an index of the access to new advanced options in medicine or may be predictive of uptake genomic tests, but does not measure risk perception, risk attribution, and consequent behaviors. The authors claimed that such awareness of DTC-GT may translate into healthy changes in behavior and disease prevention, and they promote a further investigation on those issues. But evidences in the literature have extensively demonstrated that being ‘information seekers’ do not influence behavior change per se (3). Current literature shows that individual differences in perceived seriousness and controllability of the disease affect reactions to DTC-GT (4). However, personal characteristics, such as internal vs external attribution of risk, and a family history of disease, are the factors which seem to have a key role in determining lifestyle changes (3, 5). Therefore, we suggest that future studies on DTC-GT should investigate the consumers’ psychological profile and the connection between behavioral changes, health locus of control and identification through familial experience. In fact, the role of these aspects in coping with genetic predisposition toward diseases and in attitudes of individuals to modify behaviors is far from being understood. Furthermore, it should be noted that access to DTC-GT services does not always match health literacy, therefore consumers might not have sufficient knowledge to understand genetic risk data and translate them into ‘positive’ behaviors (5, 6). Individuals fit information into their own context and their beliefs before translating them into health-related behaviors. Perceptions of risk and consequent beliefs change over time (7), thus making it difficult to predict the long-term effect of acquiring genetic risk information. Future research approaches should take this temporary and context-sensitive personal aspects into consideration, not forgetting that perceptions of risk, worry, severity, and control vary across diseases (8). We argue that a longitudinal approach is essential to empirically measure how behaviors, personal attitudes, and preferences change over time. This may provide relevant information for stakeholders to find effective strategies to interact with citizens and truly enhance individual empowerment. In fact, only if psycho-cognitive traits, needs and beliefs of the individual are taken into account, it is possible to achieve a level of actual awareness and informed health decisions.

Optimistic bias in young adults for cancer, cardiovascular and respiratory diseases: A pilot study on smokers and drinkers

Optimistic bias defines the tendency for human beings to underrate risk when it pertains to themselves compared with their view of risk pertaining to other people in the same conditions. The aim of this work is to investigate the optimistic bias in risk perception and health-related behaviours for three specific conditions in a young adult sample: cancer, respiratory disorders and cardiovascular diseases. Young adults showed an optimistic bias related to cancer, and to cardiovascular diseases. Our findings suggest that optimistic bias is linked to specific behavioural patterns, largely widespread in young adults, such as tobacco cigarette smoking and alcohol consumption.

Anxiety delivered direct-to-consumer: are we asking the right questions about the impacts of DTC genetic testing?

Direct-to-consumer (DTC) genetic testing (GT) is a relatively novel model of provision of GT, which has challenged the traditional practical and ethical frameworks established to manage both research and clinical genetics. DTC genetic tests are sold and/or advertised directly to individuals, usually through the internet, bypassing the conventional genetics clinic and often omitting medical supervision through a healthcare professional (HCP) and genetic counselling. Saliva collection kits allow consumers to send biological samples directly to company laboratories where DNA is extracted and analysed; the results (interpretation of genotypes) are then returned by mail, online or by phone. Different DTC-GT companies offer different services including different numbers of single-nucleotide polymorphisms (SNPs) tested (from one, a few dozens or hundreds of thousands). They can also deliver genetic information concerning different non-disease-related or disease-related phenotypes, that is, ancestry, paternity, carrier testing, predictive testing, pharmacogenomics or food intolerances. This model of provision has generated a plethora of debates in the past years regarding its potential benefits and drawbacks as well as how to best manage and regulate these activities.1 A concrete attempt at reining in some of these commercial activities was taken in December 2013 when the US Food and Drug Administration (FDA) demanded that the company 23andMe stop offering its genome-wide SNP testing ‘Personal Genome Service’ (PGS, which returned information for a multitude of disease-related SNPs), without approval or marketing clearance.i As a consequence, the company stopped marketing the PGS in the USA, but continued to market ancestry testing there. They later began offering a ‘personalised DNA service’ similar to the PGS outside of the USA, in countries like Canada, the UK, the Netherlands and …

The Disclosure of Direct-to-Consumer Genetic Testing: Sounding Out the Psychological Perspective of Consumers

In implementing genetic testing on a larger scale, there is a need to understand who the consumer of genetic testing really is. One must therefore consider the uniqueness of every individual’s psychological, social, cognitive and behavioral profiles. According to these premises, we assume that having information about the consumers’ psychosocial-cognitive state would help healthcare professionals and policy makers to find effective strategies that can be employed to successfully interact with consumers, and thereby strive to really enhance individual empowerment and shared decision making [2-4].

The importance of stress management in the presurgical phase.

The effects of psychosocial interventions before surgery on psycho-emotional status and immunological profiles across the perioperative period were investigated by Cohen and colleagues (1) in a study published in Psychosomatic Medicine in 2011. The study by Cohen and colleagues and a prior study by Larson et al. (2) are among the few articles published to date investigating the association between psychosocial treatment, psycho-emotional characteristics, and immunological measures in the perioperative phase. The authors assessed the effects of two cognitive-behavioral sessions, mainly focused on relaxation skills and coping strategies, compared with supportive attention and standard presurgical procedure in 159 men undergoing radical prostatectomy. Forty-eight hours after surgery, patients who underwent the stress management intervention in the preoperative period had higher NK cell cytotoxicity and higher levels of circulating proinflammatory cytokines (interleukin [IL]-12p70, IL-1β, tumor necrosis factor α) compared with those in the supportive attention group, and higher NK cell cytotoxicity and levels of IL-1β compared with participants assigned to the control group. Furthermore, patients included in the stress management group had significantly lower scores at the Profile of Mood States, indicating less mood disturbance before surgery compared with those in the control group. However, this was not associated with changes in the immunological measures. A critical issue in the study of Cohen et al. is the fact that presurgical modifications in mood disturbance after the stress management intervention did not mediate the immune response after surgery. It is important to notice that the brief version of the Profile of Mood States used in the study focuses on the occurrence of “negative” emotions such as unhappiness and sadness, together with items concerning anxiety, whereas the effects of the intervention may rely, to a greater extent, on the elicitation of positive attitudes and emotions. Furthermore, mood state was the only psychological variable investigated which may have been too limited. Because the intervention focused on coping strategies, it is possible that the positive effects on the immune system parameters may have been mediated by a modification in coping skills. Improved coping skills may have influenced emotions and their expression, and this may have been the active component of the intervention rather than direct treatment effects on emotions per se. Consistently with this hypothesis, positive reappraisal after a cognitive-behavioral stress management program has been shown to correlate with lymphocyte proliferation in breast cancer patients, whereas changes in distress were not predictive of immune changes (3).

The Paradox of Pelvic Exenteration: The Interaction of Clinical and Psychological Variables.

Objectives To text the feasibility of a psychological intervention package administered to 49 pelvic exenteration candidates, aimed at evaluating the preoperative prevalence of psychological distress and assessing the presence of any correlation between preoperative psychological distress and clinical variables such as pain and hospitalization length. Methods Patients were referred to the psychology unit from the very beginning of their clinical pathway and were administered the Psychological Distress Inventory (PDI) and the Mini-Mental Adjustment to Cancer (Mini-MAC) questionnaire at prehospital admission. Patients presenting with a significant level of distress received nonstandardized psychological support. Statistical analyses were performed to detect the presence of any correlation between psychological variables at prehospital admission and clinical outcomes. Results The 40% of patients had significant levels of distress at prehospital admission (PDI ≥ 30). As regards Mini-MAC, the mean value of fighting spirit attitude and fatalism was higher in our sample than in the normative sample of the Mini-MAC validation study in the Italian cancer population. Their anxious preoccupation attitude was lower. There were no correlations between clinical and psychological variables: level of postsurgery pain was higher (3.7) in the subgroup of patients with presurgery PDI < 30 compared with those with PDI ≥ 30 (3.5). However, this difference was not statistically significant (P = 1.00). Considering hospitalization length, the above described trend was similar. Conclusions Although highly distressed, pelvic exenteration candidates show an adaptive range of coping mechanisms. This calls for a greater effort in studying the complexity of their psychoemotional status to provide them with the best multidisciplinary care. Extensive study of the real effectiveness of psychological intervention is warranted: randomized clinical trials could help in detecting the presence of any correlation between clinical and psychological variables in a multidisciplinary approach.

Capturing how individuals perceive genetic risk information: a phenomenological perspective

The prevailing scientific approach to genetic risk information centres around communication of risk in terms of numerical probabilities. However, it is well known that individuals have difficulties in understanding and making sense of this information in their own lives. There is, accordingly, a need to investigate whether any methodologies in psychological research may shed light on how individuals perceive genetic risk information within their specific contexts of family history, personal relationships, lifestyles and future plans. To explore whether hermeneutic phenomenology and methodology may offer a deeper understanding of an individual’s perception of having a hereditary predisposition, we conducted a literature search. We found that Interpretative Phenomenological Analysis may be a fruitful approach to an individual’s lived experiential world. The studies analysed showed how individuals interpret information about genetic risk in the light of their own beliefs about the multiple causes of illness, patterns of heredity and observable risk factors in their families. People’s understanding of their experience is derived from an intricate interconnectedness with others that arises in the context of a world shaped in equal measure by language and culture, on the one hand, and bodies and objects on the other.

Perceived utility of an integrated psychological intervention for gynaecological cancer patients admitted for surgery: preliminary data

Objective To investigate patients’ satisfaction and perceived utility for psychological consultations delivered by clinical psychologists in a sample of gynaecological cancer patients hospitalised for surgery. Methods A total of 51 gynaecological cancer patients who scored higher than four on the distress thermometer (DT) were proposed and received a psychological consultation during hospitalisation for surgery. After six months from discharge, patients were asked, during a telephone interview, to rate their level of distress post-treatment, their perceived satisfaction, and usefulness of the psychological intervention received. Results At the time of the telephone interview, the distress levels stated by patients tended to be lower than those at hospital admission, and around 61% of the patients expressed maximum satisfaction with psychological intervention. Among these, 60.8% rated the psychological consultation useful for dealing with the hospitalisation itself, 45.1% useful for dealing with personal issues and 58.8% for dealing with issues related to returning home. People who were at their first diagnosis and those who had no other reason to be distressed beyond their cancer found psychological support significantly more useful for facing up to personal issues. Conclusions Patients are highly satisfied with integrative psychological interventions delivered by clinical psychologists in a medical setting such as that of gynaecological cancer surgery and from the six-month follow-up, it emerged that such interventions help in promoting patients’ adjustment to the phase of hospitalisation and post-hospital discharge.