Our research results show that many financial, organizational, regulatory, ethical and societal challenges (summarized in Table 1) exist that may negatively affect the PM agenda. While some of these challenges have been identified in previous studies, others have received limited attention. Research groups have previously raised concerns regarding the lack of funding to support the feedback of genetic research results of potential health results to
research participants[128, 129]. Our research confirms that such issue is expected to be broadly encountered in Europe [126]. Similarly, concerns are regularly raised in the public debate regarding the health care systems’ ability to finance the purchase of genetic tests and targeted treatments [88, 130]. These concerns are largely motivated by recent restrictions placed by health care systems on the prescription of new targeted drugs [131], which have provoked heated discussions regarding the reasons for high drug pricing [88], and led to calls for a greater sustainability of drug prices [132]. Our results from paper III show that PIOs largely share these concerns and question the financial sustainability of high drug prices and PM [125].
Our research also reports the existence of organizational issues due to the absence of clear and flexible policies, mechanisms and tools to perform tasks, and a limited culture for collaboration across disciplines. For instance, findings from paper I show that the necessary organizational structures to enable the feedback of results in a professional fashion are often not in place in research projects [129]. Previous studies have reported difficulties in the establishment of collaborations between researchers and clinical genetic services to enable the feedback process [133, 134] due to limited available expertise on genetic testing among health care professionals [103] and some reluctance toward the adoption of genetic tests [101].
Preliminary results from the recently conducted Genetics Clinic of the Future survey seem to support our findings and show that policies for the feedback of results are largely missing in Europe [135]. In addition, organizational challenges exist that are related to the conduct of biomedical research. As discussed in paper IV, established standards for the collection of informed consent and the recruitment and retention of research participants are insufficient and unfit to satisfy the needs of modern and PM-friendly research [127]. Discussions are currently taking place within the scientific community regarding the importance of developing
new and innovative approaches for the collection and management of informed consent that are more efficient and flexible than current practices (see section 2.4).
Our research reports the existence of numerous ethical and societal challenges that may negatively impact PM. A critical challenge relates to the health care professionals’, patients’, and citizens’ ability to endorse PM. In paper III, the PIO representatives explained that health care professionals often do not have the necessary prerequisites to understand the basics of complex or rare diseases [125]. Paper I reported that research participants often are not aware that genetic results may be produced about them, and may not be ready to receive them [126].
Paper II discussed that patients and citizens, contrary to what policymakers and promoters of PM expect, may have limited ability and interest in engaging more strongly in the management of their health, or in participating in PM research [121], an issue that was also discussed with the PIO representatives in paper III [125]. This is in line with results from previous studies which show that patients and citizens’ have limited health and technology literacy [136], varying understanding of the meaning of genetic information [137], and insufficient awareness of research [138].
Importantly, our research identified some specific challenges that, until now, have received limited attention. For instance, results from paper III show that PIOs have varying and sometimes limited knowledge of PM [125]. While some PIOs use the concept of PM, and outline strategies for PM in their central documents, others do not have an in-depth knowledge of PM and do not use PM as a concept in their work. This stands in contrast to the assumption of policymakers and promoters of PM; in their PM reports, they often describe PIOs as active players that contribute to, for instance, the development of cutting-edge research projects [6]. Our results suggest that, as I will discuss later, further effort should be
devoted to greater engagement of PIOs in the PM endeavour in order to benefit from their expertise and their networks. Our research results also show that PIOs have concerns, not only regarding the financial and organizational aspects of PM, but also regarding how PM may impact the way one deals with health and disease. More specifically, they fear that increased focus on the genetic and molecular aspects of disease may negatively impact the patient-doctor relationship. This concern is acknowledged in the literature but, to my knowledge, has hardly been addressed in empirical studies on PM.
Concerning many of the challenges discussed in the papers, one could question whether some challenges are more critical than others. For instance, isn’t the health care systems’ limited ability to purchase genetic tests and targeted treatments (an issue raised by the PIO representatives) a more important challenge than the lack of online communication platforms for interaction between researchers and research participants? Although ranking challenges by order of importance may be necessary, it was not my objective to do so when conducting this work. Rather, I was interested in gaining an overall understanding regarding the diversity of challenges that may affect the realization of PM, directly or indirectly. Furthermore, it would not have been possible to weight or “quantify” challenges based on qualitative studies involving a limited sample of stakeholders. However, I believe that the challenges we identified in our work are all relevant and interrelated. As an illustration, if researchers do not have flexible tools for the conduct of their PM research, this may potentially delay or impede the discovery of new medical treatments and negatively impact people’s access to PM over time. This illustrates that focusing on one type of challenges, for instance, financial challenges, may not be enough. Enabling PM requires navigating through a web of challenges, and developing strategies accordingly.