Health and medicine sociology

Personalized medicine and big data: what are the social issues raised by these medical and technological advances? (session 1 of 2)

June 28, 2021 10:45
June 28, 2021 12:15

Monica Aceti, University of Basel; Maria Caiata Zufferey, SUPSI


Maria Caiata Zufferey, SUPSI; Monica Aceti, University of Basel

Gaia Barazzetti, The ColLaboratory, University of Lausanne; Alain Kaufmann, The ColLaboratory, University of Lausanne; Horace Perret, Fondation Science et Cité

Carla Pedrazzani, SUPSI; Maria Caiata, SUPSI; Andrea Kaiser-Grolimund, University of Basel; Monica Aceti, University of Basel; Maria Katapodi, University of Basel

Considered the "medicine of the future", personalized medicine (Guchet, 2016) has made significant advances, particularly in precision oncology thanks to the advent of high-throughput sequencing. The acceleration of diagnostics, as well as "tailor-made" therapies, have improved the treatment of hereditary cancers. These advances have also raised hope for curing chronic, mental and/or orphan diseases. Nonetheless, they also invoke a number of fears (Aceti et al., 2020). In order to understand these tensions, three themes seem to be of major interest from a sociological perspective. 

Firstly, predictive medicine is not focused on symptoms but on predispositions to develop a disease. In this sense, it is applied to anticipate, monitor or accompany pathogenic risks. While it is promising because it offers previously unimaginable care opportunities, it also raises questions concerning the health injunctions that may accompany it (Caiata Zufferey, 2015). Analyzing the effects of predictive and probabilistic health care is, thus, a crucial issue, especially since it raises the problem of the unequal disposition of different social strata to comply with preventive practices and to benefit from them afterwards. 

Second, personalized health integrates individual data (such as diet, physical activity, mobility) with health data. It is a growing field that relies more on preventive behaviors than on curative instruments. In this approach, patients are actors of their health and will collect and manage their personal health data in a proactive way, often participating in online databases. The collection of these data raises issues related to big data, to their management and to the various uses of them, whether these uses are scientific, commercial, recreational or abusive. 

Thirdly, from a broader point of view, this "revolutionary" medicine is based on genome editing techniques and more recently on the "molecular scissors" of the geneticists Charpentier and Doudna (Nobel Prize in Chemistry 2020). Over and above the potential benefits, the possibility to modify our genome raises questions about our intangible genetic heritage, either human or non-human. The innocuity of these modifications, which are transmissible to human offspring, is currently not assured and calls for caution. 

Based on these considerations, we welcome proposals for contributions addressing the issues of social equality and inequities related to personalized medicine Additional themes are the social consequences of scientific, genetic and technological advances oriented towards health prediction and disease prevention. 

The following list of topics (non-exhaustive) would be welcome: 

  • Predictive medicine and health moralization 
  • (Un-)certainties generated by genetic knowledge 
  • Protection of personal health data and confidentiality 
  • Unequal access to gene therapies 
  • Perverse effects of unrealistic promises of healing 
  • Genetic traceability 
  • Deviations of genetic uses

Beyond medical logic. Analysis of the trajectories of genetic cancer risk management in relation to the life trajectories of asymptomatic women carrying the BRCA1/BRCA2 gene

Maria Caiata Zufferey, SUPSI; Monica Aceti, University of Basel

Over the last two decades, genetic tests have been used to verify predisposition to breast and ovarian cancer by looking for the presence of a mutation in the BRCA1 and BRCA2 genes. For women who carry the mutation, there are international recommendations on how to minimize the risk of disease: to follow an intensive and regular surveillance from the age of 25, to remove the ovaries once the family project is completed (but in any case, before the age of 40) and to evaluate the possibility of preventive breast surgery. The discovery of the mutation thus invites the women to manage the risk, a risk that can be described as "chronic,” since it is expected to persist until the end of life. 

Given its long-term nature, risk management may be thought of as a trajectory, i.e. as a work that takes place over time to prevent, delay or alleviate the emergence of the disease. But how does the risk management trajectory intertwine with the person's life trajectory?

This question will be examined based on two corpuses of qualitative data, collected in the French-speaking part of Switzerland, from asymptomatic women who have been identified as carriers of the BRCA1/BRCA2 mutation through a genetic test carried out in a hospital setting. Thirty-five women, aged between 24 and 72, were interviewed: 28 women participated in an individual interview during a study on genetic risk management conducted between 2011 and 2014; 7 women provided their testimonies during individual interviews (N=4) and mini focus groups (N=3) conducted during the year 2020 as part of the CASCADE and DIALOGUE studies, which are carried out by a team of interdisciplinary researchers and a consortium of geneticists from various hospitals in Switzerland.

The data were transcribed and analyzed using the constant comparison method. A diachronic visualization tool for hereditary cancer risk management was created to explore the correlations between the course of risk management actions and the stages of the life trajectory.

The ongoing analysis suggests that long-term risk management is strongly linked to the dimensions of life in relation to couple formation, birth and parenthood issues. Other dimensions, such as female identity, relationship to the body, level and type of education, or the degree of professional stability influence the decisions to be made, as they evolve over the life course. Finally, this paper argues that it is impossible to understand the modalities of genetic risk management without examining the social, emotional and relational situations that shape the decisions in life trajectories of the women involved. 

Keywords:  genetic risk management; hereditary cancer; life course, asymptomatic women; preventive medicine, decision making

Defining “personalization” in personalized health care: co-producing social relevance through participatory research

Gaia Barazzetti, The ColLaboratory, University of Lausanne; Alain Kaufmann, The ColLaboratory, University of Lausanne; Horace Perret, Fondation Science et Cité

This contribution focuses on results from two recent studies (1) conducted by The ColLaboratory of the University of Lausanne and the Fondation Science et Cité within the initiative “Personalized Health and Society” promoted by the Leenaards Foundation in Western Switzerland (2018 – ongoing) (2). The two studies involved stakeholders and future users of personalized health, namely researchers in the field of precision medicine, primary care physicians, and citizens, including patients and research participants. Both studies adopted exploratory and participatory methods to enable participants to share their views and to deliberate on the ethical, social, clinical and public health issues in the development of personalized health in Switzerland.

Synergies established between the two studies made it possible to produce definitions and perspectives for research and developments in personalized health that were anchored in participants’ experiences and knowledge of the meaning of the word “personalization”. These visions and conceptions of personalization, which can be situated between molecular-genomic or digital personalization on the one hand, and psycho-social personalization on the other, are linked to each person's biographical trajectory as well as their social network including relatives and care providers. They challenge dominant and expert-centered paradigms of personalized and precision medicine as mainly focused on genomics and big data. Our studies show that the “social robustness” and social relevance of developments in the field of personalized health will not be achieved without integrating these collaborative and participatory approaches at each stage of its trajectory.

(1) More information on the two studies is available at: and 


Communication of genetic risk within family members in hereditary cancers: challenges and role of health-care providers in supporting family communication.

Carla Pedrazzani, SUPSI; Maria Caiata, SUPSI; Andrea Kaiser-Grolimund, University of Basel; Monica Aceti, University of Basel; Maria Katapodi, University of Basel

In hereditary cancers, disclosure of genetic testing and communication of genetic information to family members is crucial to enable genetic risk assessment and counselling for cancer prevention and control. In Switzerland, according to privacy law, genetic information can be passed on to at-risk relatives only through the individual identified with the pathogenic variant. However, less than 50% of at-risk family members use cancer genetic services and 20-40% remain unaware of relevant genetic information. Healthcare providers have a relevant and challenging role in supporting family communication on genetics but this is still limited and not clear. Indeed, supporting communication of genetic information within family members may be challenging since it can lead professionals to deal with an ethical and professional dilemma about respect for patient’s autonomy and the right of family members to information. Additionally, no common recommended approach and no clear guidance is currently given about how addressing and encouraging family communication. The aim of this study is thus to understand how healthcare-providers address family-communication in clinical practice and how this may affect genetic test results disclosure from mutation carriers to relatives.

To meet the study’s purpose a convergent-parallel mixed-method study is being conducted. Quantitative data are collected with self-administered surveys from hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS) mutation carriers and at-risk relatives from three linguistic areas of Switzerland. Concomitantly, qualitative data are collected with focus groups and interviews with mutation carriers, relatives and healthcare-providers. After quantitative and qualitative data analyses, data integration and interpretation will be done.

Currently, 419 individuals have been recruited, 328 surveys completed and 11 focus groups and 25 interviews conducted (N=53). Less than 40% of participants remember receiving recommendation for genetic testing for at-risk relatives and about 65% shared genetic information to blood relatives. 

Qualitative data show that family communication on genetics is highly complex, selective, influenced by many individual and family-related aspects and changing along the trajectory of life and illness. It seems to be subject to certain logics (e.g. “protection”), which can lessen the moral responsibility to communicate (i.e. the fear of hurting or making people feel guilty). In case of illness, the weight given to family communication seems to be relative due to other concerns and priorities related to own health or to that of closest family members (i.e. the management of one's own illness/risk and that of close family members). According to mutation carriers’ perceptions, providers address communication to at-risk relatives discontinuously and in a quick and non-detailed way.

Supporting communication of genetic information among biological relatives is a relevant and challenging aspect of genetic healthcare and risk communication. Moreover, research about genetic communication is timely and essential to implement interventions to enhance clinical practice, cascade testing and multilevel public-health initiatives for cancer prevention and control.

Keywords: genetic risk management; hereditary cancer; risk communication; family communication