Chiara Renzi

The choice dilemma in chronic hematological conditions: Why choosing is not only a medical issue? A psycho-cognitive perspective

Research in cognitive psychology focused on risk perception and decision making was shown to facilitate treatment choice and patients satisfaction with decision in a number of medical conditions, increasing perceived alliance between patient and physician, and adherence to treatment. However, this aspect has been mostly neglected in the literature investigating choice of treatment for chronic hematological conditions. In this paper, a patient centered model and a shared decision making (SDM) approach to treatment switch in chronic hematological conditions, in particular chronic myeloid leukemia, atrial fibrillation, and β-thalassemia is proposed. These pathologies have a series of implications requiring important decisions about new available treatments. Although new generation treatments may provide a significant improvement in patients health and health-related quality of life (HrQoL), a significant percentage of them is uncertain about or refuse treatment switch, even when strongly suggested by healthcare guidelines. Possible cognitive and emotional factors which may influence decision making in this field and may prevent appropriate risk-and-benefits evaluation of new treatment approaches are reviewed. Possible adaptive strategies to improve quality of care, patient participation, adherence to treatment and final satisfaction are proposed, and implications relatively to new treatment options available are discussed.

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

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.

Stress Exposure in Significant Relationships Is Associated with Lymph Node Status in Breast Cancer.

Objective Life stress exposure may impact on health and disease. Previous literature showed that stressful life events are associated with cancer incidence, survival and mortality. In animal models, patterns of maternal care have been shown to critically affect stress sensitivity and immunity trajectories later in life, by modifying DNA methylation during critical periods early in life. However, the role of parental care in breast cancer progression and survival has only limitedly been explored. Here, we investigated whether these factors may be linked to biological prognostic variables. Methods One hundred twenty-three women hospitalized for surgery of primary breast cancer completed a questionnaire assessing parental bonding. Stressful events throughout the life span were also assessed. Results We found that the absence of optimal parental relationships is significantly associated with an increased risk of lymph node involvement, adjusting for confounders, while cumulative stress in the area of sentimental relationships is borderline significantly associated with the same prognostic factor. Conclusions Our results suggest that parental bonding and sentimental relations may have a role in breast cancer progression. These variables represent an important evolutionary aspect which may modulate cancer progression through psycho-physiological stress pathways and influence the immune system.

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 …

iManageCancer: Developing a Platform for Empowering Patients and Strengthening Self-Management in Cancer Diseases

Cancer research has led to more cancer patients being cured, and many more enabled to live with their cancer. As such, some cancers are now considered a chronic disease, where patients and their families face the challenge to take an active role in their own care and in some cases in their treatment. To this direction the iManageCancer project aims to provide a cancer specific self-management platform designed according to the needs of patient groups while focusing, in parallel, on the wellbeing of the cancer patient. In this paper, we present the use-case requirements collected using a survey, a workshop and the analysis of three white papers and then we explain the corresponding system architecture. We describe in detail the main technological components of the designed platform, show the current status of development and we discuss further directions of research.

Psycho-emotional tools for better treatment adherence and therapeutic outcomes for cancer patients

Personalized medicine should target not only the genetic and clinical aspects of the individual patients but also the different cognitive, psychological, family and social factors involved in various clinical choices. To this direction, in this paper, we present instruments to assess the psycho-emotional status of cancer patients and to evaluate the resilience in their family constructing in such a way an augmented patient profile. Using this profile, 1) information provision can be tailored according to patients characteristics; 2) areas of functioning can be monitored both by the patient and by the clinicians, providing suggestions and alerts; 3) personalized decision aids can be develop to increase patients participation in the consultation process with their physicians and improve their satisfaction and involvement in the decision-making process. Our preliminary evaluation shows promising results and the potential benefits of the tools.

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).

From Epigenetic Associations to Biological and Psychosocial Explanations in Mental Health

The development of mental disorders constitutes a complex phenomenon driven by unique social, psychological and biological factors such as genetics and epigenetics, throughout an individuals life course. Both environmental and genetic factors have an impact on mental health phenotypes and act simultaneously to induce changes in brain and behavior. Here, we describe and critically evaluate the current literature on gene-environment interactions and epigenetics on mental health by highlighting recent human and animal studies. We furthermore review some of the main ethical and social implications concerning gene-environment interactions and epigenetics and provide explanations and suggestions on how to move from statistical and epigenetic associations to biological and psychological explanations within a multi-disciplinary and integrative approach of understanding mental health.

Current trends in Electronic Family Resilience Tools: Implementing a tool for the cancer domain

It is well documented that the diagnosis of cancer affects the wellbeing of the whole family adding overwhelming stresses and uncertainties. As such, family education and enhancement of resilience is an important factor that should be promoted and facilitated in a holistic manner for addressing a severe and chronic condition such as cancer. In this paper, we review the notion of resilience in the literature identifying three tools that try to support it. Then we focus in the cancer domain and we describe a tool implemented to this direction. To our knowledge, this is the first time such a tool is used to complete patient profile with family resilience information, eventually leading to patient and family engagement and empowerment.