Wir alle sind schon mit älteren Patientinnen und Patienten konfrontiert worden, deren Medikationsplan verwirrend ist – mit zehn, fünfzehn, manchmal zwanzig Medikamenten in verschiedenen Formen und mit unterschiedlichen Einnahme­zeiten. Diese Polypharmazie ist bei älteren Menschen weit verbreitet: In der Schweiz erhält ein Viertel der Patientinnen und Patienten über 65 und ein Drittel über 85 Jahre fünf oder mehr Medikamente pro Tag.

Background

Some important results of the Genperso study

• Approximately 40% had prior knowledge of DTCGTs and disease risk profiling.
• About 43% of patients reported being interested in obtaining their genetic risk profile whereas 17% would have the test only if the prediction of risk for specific diseases were possible.
• Depending on the disease (type 2 diabetes, colorectal cancer and Alzheimer’s disease were given as examples in this study), 65–80% would be willing to make lifestyle and behavioural changes.
• Nearly all patients (about 97%) would discuss the results of their genomic profile with their GP.

Update after the Genperso study

1. Certainly, personalised medicine is presently well integrated in oncology, where the technology of genome sequencing has allowed the prediction of prognosis and therapeutic response to specific drugs. Given the prevalence of other chronic diseases such as type 2 diabetes and cardiovascular diseases, mostly managed by GPs, could the personalised medicine approach be an invaluable asset in family medicine and public health by using genomic profiling for disease risk assessment?
2. Would the public use direct-to-consumer genetic tests to learn about their disease risks? In recent years, DTCGTs have become readily available to the general public via a simple purchase over the Internet. Offers from different companies vary from simple testing for ancestry and genealogy to assessing one’s risks of certain health conditions and traits. Studies have shown that if patients choose to have a DTCGT, they seek help from their GPs for the interpretation of the results, as well as for counselling, support and medical recommendations. Hence, with the growing public interest and the ease of access to DTCGT, the involvement of GPs seems to be inevitable, as confirmed by Genperso studies.
3. What would be the right term for this type of medicine? The general confusion over the terminology and concept is also confirmed in this study [13,14]. The label “personalised” could be the cause of the misinterpretation, particularly in a field of medicine where the doctor-patient relationship is nurtured. Many have discussed the need for the right terminology, for example “precision medicine” as stated by Jaccard et al. [15]. To our mind, the term “genomic medicine” seems more fitting and clearer to doctors and patients.
4. How to advance from a lack of knowledge and interest to commitment? GPs avoid adhering unconditionally to new technologies even if they admit that genomics could provide better tools in preventive medicine and targeted therapies. They are rarely challenged with the monitoring of rare genetic diseases, but they should be able to provide support and accurate information to already informed patients. So, their central role in the healthcare system means that they would need to embrace the advent of innovative technologies to help them in everyday care. To help GPs commit to innovation, well-founded evidence-based research are required.
5. How to prevent over-medicalisation? Over-medicalisation often begins when existential issues are disregarded, and further unnecessary investigations and treatments are prescribed to respond to patients’ demands. This is a recurring concern amongst GPs as genomic medicine takes after the biomedical model and overlooks the bio-psycho-social vision of today’s medicine. This could potentially impact the doctor-patient relationship as more time is consumed in unwarranted tests. According to Vogt et al., the risk of over-diagnosis can be reduced through shared decision-making, hence affirming the importance of trusting doctor-patient relationships.
6. How to deal with ethical and social issues? GPs interviewed have highlighted potential confidentiality, discrimination, and social issues (social insurance and costs) linked to personalised medicine. They advocate a legal framework. Medical continuing education should also provide appropriate training on how to address patients’ questions and uncertainties regarding this innovative technology.
7. What would be the role of GPs in evaluating new technologies? We are convinced that GPs have an important role in the evaluation of new technologies, as shown by the Genperso research. It is unreasonable to validate and implement new technologies in a medical field without any concern about the professionals who would be involved in its use. GP’s discourse must be heard, alongside that of their patients, technology promoters, payers, patient associations, philosophers and sociologists.

Conclusion