Genetics and Pharmacogenetics in Primary Care—2nd Edition

Dear Colleagues,

Genetic and pharmacogenetic information has led many of us to reflect on and discuss whether the creation of this information should be handled by regular health systems instead of commercial market systems (such as in direct-to-consumer testing). However, health care systems all over the world are increasingly working in a hybrid model and use eHealth and blended care integrated into daily medical practice. Of course, personalized health is of importance for the individual and society at large, but there is a growing need for tailored care and prevention as well as cross-disciplinary approaches. However, there is great uncertainty in the future of (pharmaco)genetic and genomic service provision, and insight into the perspectives of (non)genetic professionals on the topic is increasingly required. We are currently in the midst of a revolution in DNA sequencing that promises unprecedented access to genetic data. This new evidence is of the utmost importance, since it is widely known that genetic information derived from DNA analysis can help address challenges in personalized medicine and prevention. The implementation of this knowledge is, however, only in the early stages, and further evaluation in addition to strategic planning and decision making are needed. Advances in DNA analysis technology, science, and international collaborations have shown us that genetic medicine is indeed changing, complicating the steps towards implementation. Certainly, DNA analysis is increasingly being used in health care, but so far only in specialized settings and for a limited number of health problems and, thus, is still not capitalizing on its full potential.

Gene–disease relationships have been well described, thanks to decades of clinical genetic testing, which has led to the demonstrated prevention or early detection of diseases in cases where relatives are preventively tested after a relative patient carrier has been identified. The technology to screen for such predefined actionable genetic variants exists but is not currently used as a preventive tool in the more general (patient) population. Additionally, genetic variants influencing the efficacy or occurrence of adverse events in drug prescription have been well elucidated and even included in pharmacological guidelines, but widespread use to guide personalized treatment strategies and prevent adverse events is limited. Finally, polygenic risk scores (PRSs) for many diseases have developed from the outcomes of genome-wide association studies (GWASs). Individualized genetic risk profiles (rare variants, pharmacogenetics, and PRSs) are becoming increasingly affordable and available at any point in time, and they have the potential to be implemented at an unprecedented scale in health care, both in clinics and for prevention. Yet, this is not fully exploited in medical practice because the logistic, technical, societal, ethical, legal, and educational requirements must still be determined while public engagement and governmental vision is lacking. 

Authors are encouraged to submit original manuscripts describing the current and potential utilization of genetics and pharmacogenetics in primary care and the hurdles still needed to be overcome in answering scientific questions on the differences in diversity and health systems, policies, education, and financing, as well as patient factors. Also encouraged are papers describing the application of new methods or (eHealth- and artificial intelligence-based) instruments, as are reviews or comparisons as well as manuscripts dealing with bioinformatic methods of analysis facilitating the development of evidence-based strategies to urgently improve collaborative efforts to implement genomic medicine.

Dr. Elisa J.F. Houwink
Prof. Dr. Ron van Schaik
Prof. Dr. Jesse Swen
Guest Editors

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• genetics
• pharmacogenetics
• primary care
• prevention
• early detection
• bioinformatics
• individualized medicine
• genomic medicine
• ethics
• bioinformatics
• personalized (pharmaco)genetic data
• family history