It is now clear that many medical products will increasingly be based on genetic research, and that new targeted treatments and diagnostic tests will be brought to the market on a regular basis [66]. Extensive work has been conducted by a wide range of actors including governments, funders, medical organizations [6, 33, 45] (hereafter “policymakers”), and the scientific community [67-69] to determine what needs to be done to accelerate the realization of PM [39, 70]. These actors have identified five mains areas of work where particular attention and effort should be focused. These are briefly described as follows:
- Scientific research needs to be intensified to map genetic variants, elucidate their role as markers of disease or drug response, and understand gene networks and gene-environment interactions. Cohort studies and biobanks can play a role in providing genotypic and phenotypic information from millions of individuals that can be used for research [9]. Clinical and laboratory research is also important to understand the implications of structural and regulatory variants in relevant genes and investigate how the patients’ genetic profile may impact response to treatment [71].
- Solid data sharing infrastructures need to be developed to support the collection, analysis, linkage and sharing at reasonable cost of comprehensive and interoperable datasets [33, 45], following common standards and policies [72]. Efforts are currently being made in pan-European biobank infrastructures [73] and research collaborations [74] to develop such infrastructures and tools. The implementation of electronic health
records (EHR) is also needed to enable the storage of genetic and genomic data with the objective to support the clinical decision-making and open for research at “point-of-care” [6, 75]. Detailed, quality-assured and structured annotation of clinical disease parameters and their disease-specific interpretation must also be established.
- Robust ethical frameworks are needed to protect the privacy and confidentiality of individuals when sensitive genetic and molecular information is produced [33].
Safeguards must be developed against potential risks of discrimination based on an individual or an ethnic minority’s genetic profile [59, 60]. Emphasis needs to be placed on developing new forms of consent to inform individuals about the risks and benefits associated with the production of individual genetic and genomic information, the possibility that they may be offered access to their genetic research results, and potential future uses of their data by researchers, clinicians, and commercial actors [6, 76].
- Regulatory frameworks must be modernized to enable more rapid evaluation and approval of new targeted drugs. Adaptive pathways [77], a fast track model currently piloted by the European Medicines Agency’s (EMA) [78], is an example of a tool that can be used to enable a quick conditional approval of treatments in areas of high medical need. Under this program, specific treatments can be approved on the basis of early data that are considered predictive of important clinical outcomes, evidence collected through real-life use, and feedback from patients and health-technology-assessment bodies [77]. It is also recommended that drug approval mechanisms adapt to the conduct of clinical trials including small subsets of patients sharing similar genetic profiles rather than large-scale randomized control trials [79]. In the approval
process, greater emphasis should be put on patient outcomes such as side effects and personal utility of interventions [70].
- Stakeholders should be educated in PM. Educational programs targeting health care professionals should be revised to include basic concepts of genetics, molecular biology and clinical informatics, and information about the use of genetic tests [31, 33]. It is also recommended that patients and citizens become familiarized with genetic information and understand genetic risk predisposition [37]. The NHS-funded programme INVOLVE, a British national advisory group aiming to facilitate public involvement in research, is an example of an initiative that helps to increase public awareness and understanding about PM through research festivals, laboratory tours [80], and web-based educational programs [45]. Health care institutions are also encouraged to develop genetic services to provide genetic information to patients in a concise and systematic way [71]. Patient and interest organizations are envisioned to play a role in increasing patient literacy and producing easily understood information about PM [81, 82].
The five areas of work described above – the conduct of scientific research, the development of data sharing infrastructures, the development of ethical frameworks, the modernization of regulatory frameworks, and the education of stakeholders in PM – focus on the development of hands-on technical solutions, tools and infrastructures essential to help integrate PM into our health care systems. The funders and promoters of PM primarily delineated these five areas. This is a “top-down approach”: high-level decision makers lay out a roadmap for the realization of PM that other stakeholders of PM are encouraged to follow. However, it is important to explore how well these five areas coincide with what other stakeholders of PM,
for instance, PM researchers and patient groups, see as critically important. This is because these stakeholders work “on the ground”, have hands-on experience, and may have a better understanding of real-world issues [83]. They may also be important allies in the realization of PM by providing advice and recommendations for how to move forward. Considering their views may be particularly useful to ensure that PM develops in a way that complies with the expectations and values of society.