To the Editor,
Kang and Choe [1] reviewed gene screening counseling in healthy populations in a previous study. Primary care facility is frequently visited by patients and their families; therefore, we need to discuss the potential for implementing precision medicine (PM) in primary care.
Currently, primary care provides services based on disease conditions and guidelines. This approach inherently adopts a one-size-fits-all principle. For instance, a therapeutic regimen may demonstrate optimal efficacy in a particular patient subset, while yielding suboptimal or adverse responses in others. In such instances, genetic testing offers a means to calibrate dosage with greater precision.
This is similar to disease prediction. The unique characteristics of the patient are taken into consideration in individualized prediction. However, the accuracy of the predictions can be improved from a genetic perspective, which is called personalized prevention. Lifestyle, environmental, and genetic factors are assessed using a PM approach [2].
Over the past few decades, the development of PM has progressed rapidly, necessitating its integration in clinical practice. To prepare for the era of PM, an ecosystem is required that includes the readiness of human resources.
This study aims to discuss the implementation of PM in primary care, along with its challenges and strategies.
1. The Role of Primary Care Physicians
Primary care is strategic because the first contact with patients is attached to the community. The roles of primary care physicians in applying PM include the following:
1) Prioritizing prevention
The primary care paradigm should shift towards preventive care. Risk factors should be recognized at individual, family, and community levels. With PM, diseases can be prevented effectively.
2) Patient-centered care
Upon identification of a disease predisposition in a patient or in response to a patient inquiry concerning familial disease risk, the primary care provider is obligated to evaluate genetic factors. The provision of these services should prioritize patient-centered values and strive to fulfill the patient’s specific requirements. The patient could request a genetic examination of his own will. Doctors must explore patient needs, relevant genetic tests, appropriate genetic test referrals, and risks related to privacy, ethics, and insurance financing.
3) Family focused
Some diseases require the family to play a role in improving their outcomes. Doctors can communicate with families with the goal of increasing family involvement, supporting behavioral change, and planning family wellness. Families consist of members with different lifecycles. At every level of life, preventive efforts can be made using a PM approach.
2. Precision Medicine Counselling in Primary Care
Counseling with a PM approach can be carried out using the following steps:
1) Risk assessment
Primary care physicians can identify risks by asking about the family members’ histories and risk exposures.
2) Identification of the need for genetic examination
On presence of potential disease risk, doctors can consider whether the patient needs to undergo genetic testing. The patients also need to be informed about the advantages and disadvantages of genetic examinations.
3) Refer a genetic expert for testing
Patients who agree to undergo genetic testing can be referred to a genetic counsellor for further information and genetic examination.
4) Follow-up genetic examination
After completing the examination, the patient can consult with a primary care doctor to plan treatment based on genetic examination. Preventive measures such as lifestyle and environmental modifications can be suggested. If the risk is high, patients can be referred to a specialist for further management.
5) Identify other family members for genetic testing
Based on the results of genetic examination and genogram analysis, the need for genetic testing of other family members can be estimated.
Counseling based on a PM approach can be implemented when the system is adequately prepared. However, implementing PM services remains challenging, particularly in developing countries, where economic instability negatively impacts the population’s quality of life.
3. Challenges in Implementing Precision Medicine in Primary Care
The implementation of PM in primary care encounters numerous significant challenges. Genetic profiles, diagnoses, and recommendations can be obtained independently via online ordering. However, empowering patients without the guidance of a primary care physician can be dangerous. Some people do not support PM because it predicts future diseases. This raises doubts about the use of PM in primary care [3].
The primary hindrances are the limited accessibility and affordability of advanced technologies and genetic testing. Many developing nations grapple with limited resources, impeding investment in the necessary infrastructure for the widespread adoption of PM. Additionally, the high costs associated with genetic testing pose obstacles for both healthcare providers and patients. Another critical challenge is the absence of comprehensive healthcare databases and standardized electronic health records in many developing countries. The effective implementation of PM depends heavily on robust data integration and analysis, which is hindered by the lack of adequate healthcare information systems.
Furthermore, ethical and privacy concerns are pronounced in these settings, where the regulatory frameworks for genetic testing and data privacy may be underdeveloped. Addressing these challenges requires collaborative efforts involving government support, regulatory guidelines, and international partnerships to enhance accessibility, affordability, and ethical standards of PM in primary care within developing countries.
4. Strategies for Overcoming Implementation Challenges
Confronting the challenges of implementing PM in primary care requires a more comprehensive approach. Governments and international organizations should prioritize policies aimed at fostering accessibility and affordability. This may involve subsidizing the costs of genetic testing, creating incentives for private sector involvement, and establishing public-private partnerships to invest in the necessary infrastructure.
Regulatory frameworks need development or reinforcement to ensure the ethical and secure use of genetic data, incorporating rigorous guidelines for informed consent and robust data protection measures to build public trust and alleviate privacy concerns.
Another crucial strategy involves education and training programs for healthcare professionals offering specialized training on PM technologies and practices to empower primary care providers for effective integration into clinical routines. Simultaneously, raising public awareness is vital to ensure that patients comprehend the benefits and potential risks of precision and facilitate informed decision-making.
International collaboration has emerged as a key strategy for overcoming resource limitations, allowing developing countries to benefit from partnerships with developed nations, academic institutions, and nongovernmental organizations, and facilitating knowledge, expertise, and technology transfer.
Additionally, community engagement initiatives can dispel myths and misconceptions surrounding PM by employing culturally sensitive communication strategies to address concerns and foster a supportive environment for the adoption of advanced healthcare practices. The collective implementation of these strategies aims to help developing countries navigate challenges and establish a foundation for the successful integration of PM into primary care, ultimately enhancing the healthcare outcomes for their populations.
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