Abstract
Background: The aim of this abstract is to describe the pathway of comprehensive genetic care, including the process of stratification, examinations, and the development and implementation of a patient care plan, enabling the integration of personalized medicine advancements.
Methods: Since 2008, the Medical Diagnostic Center in Siedlce, Poland has implemented the Health Status Assessment as part of integrated primary care pathway. This involves updating the medical history, determining participation in preventive examinations, and identifying fundamental symptoms that may serve as indicators for further implementation of actions in specific areas of the patient's health.
The genetic survey, constituting part of an integrated questionnaire, is completed and subsequently updated for any changes in health status and new risk factors every 5 years or in accordance with the Individual Health Action Plan of individual patient. Individual Health Action Plan in Primary Care is a care plan containing dates and indications for prescribed visits for in-depth diagnostics, along with their scheduling using e-registration.
Results: Establishing proper patient care, including genetic care, within Primary Care, requires a professional approach aligned with adept management of organizational processes and the application of the latest clinical knowledge supported by new diagnostic technologies at various levels of care. Paramount in this process is an orientation "towards the patient."
Establishing a precise diagnosis enables the development of an appropriate treatment plan and the implementation of specific measures to reduce the risk of illness, including the application of tertiary prevention (preventive surgeries). An immensely crucial factor influencing the effectiveness of these actions is the cultivation of patients' and their families' awareness, thereby enhancing the patient's willingness and ability to adhere to health recommendations, comply with prescribed medications, attend scheduled clinic visits, and undergo recommended examinations (compliance). Following the acquisition of comprehensive genetic counselling by a specialist doctor, it becomes feasible to determine the risk of disease occurrence in the patient and their family members. In the future, the utilization of modern technologies, such as the assessment of mineral balance, analysis, and statistical monitoring of measurements obtained from patients' personal tools, e.g., wearables, will be possible.
Therefore the foundation of the pyramid is Primary Care and the effective team efforts in identifying patients within specific risk groups, ensuring adequate care in accordance with established plans, and providing health education. To accomplish these tasks, new systemic solutions like Health Status Assessment for Adults in Primary Care (the solution was tested in the POZ PLUS pilot) are indispensable. The recommended solution is the appointment of prevention coordinators responsible for managing patients in high-risk states, so-called "link coordinators for specialist care high-risk groups."
Conclusion: The objective of primary health care within the framework of genetic counselling in integrated care organisation is the identification (without specifying the degree of risk and formulating subsequent care plans) of a cohort of patients at an elevated risk. A proficiently operational primary care medicine paradigm constitutes an exceedingly valuable contribution to the establishment of contemporary, high-calibre genetic care.