Breast cancer screening is a priority in the healthcare system, and it takes on particular importance when it comes to patients with genetic mutations, such as BRCA1 and BRCA2 mutations. In this context, the role of the general practitioner becomes essential to ensure adequate and proactive care. The GP is often the first point of contact for these patients, and plays a key role in centralising information, coordinating care and referring patients to the appropriate specialists.

General practitioners ensure continuity of care by arranging for the necessary additional tests to be carried out in accordance with screening recommendations. According to a study by the World Health Organisation (WHO), approximately 5-10% of breast cancers are linked to hereditary genetic mutations, mainly BRCA1 and BRCA2 mutations. The role of the general practitioner is therefore essential in monitoring these patients, not only to ensure that screening deadlines are met, but also to speed up treatment in cases of diagnostic uncertainty or the discovery of a lesion.

One of the essential responsibilities of the general practitioner is to provide comprehensive monitoring of their patients’ health. In addition to the risks associated with genetic mutations, they must also ensure the management of any other type of cancer that may not be directly related to these mutations. This holistic approach is essential, as it allows all the risk factors to which the patient may be exposed to be taken into account.

Rapid advances in genetic knowledge are changing cancer screening and prevention practices. As a local healthcare provider, GPs must keep up to date with scientific developments. The era of personalised medicine is upon us, and the management of high-risk patients, whether or not they carry genetic mutations, requires special attention. In a context where genetic testing is becoming more accessible and reliable, increased awareness of the issues surrounding screening is essential. General practitioners must also be able to answer their patients’ many questions about genetics, associated risks and screening strategies.

Data show that approximately 20% of breast cancer patients have a family history of the disease, but only a minority of them have had an oncogenetic consultation. This is why it is crucial to proactively discuss family history of cancer. Sometimes families may have taboos surrounding this topic, which prevents early detection of risks. General practitioners must be able to broach this subject delicately and help patients construct a family tree to better assess their risks. A study conducted by the National Cancer Institute (INCa) revealed that, among patients carrying BRCA1 and BRCA2 mutations, regular screening reduced breast cancer mortality by 40%.

The role of the general practitioner also goes beyond simply advising on screening: they must provide psychological support in managing anxiety related to genetic testing and the announcement of worrying results. The discovery of a genetic mutation, or an increased risk of developing cancer, can have a major psychological impact. According to a 2019 study by the Foundation for Medical Research, more than 60% of patients with genetic mutations report high levels of stress after being told of their genetic status. General practitioners must therefore be able to manage these emotional aspects by referring patients to psychologists or specialist counsellors, while addressing any concerns they may have.

For patients with multiple cases of cancer in their family but who have not yet consulted an oncogeneticist, it is important to emphasise that although genetics plays a role, many other factors influence cancer risk. Factors such as diet, smoking, stress and physical activity are also determining factors in the development of the disease. General practitioners should reassure their patients that even in the presence of genetic mutations, not all members of the same family will necessarily develop cancer. The impact of these mutations can vary considerably from one person to another depending on their lifestyle. It is therefore crucial not to panic, but to consult an oncogeneticist to better assess individual risk.

The Bordet Institute in Brussels, with its Cancer Prevention and Screening Clinic, perfectly illustrates the importance of this type of care. The clinic offers two types of consultations: a prevention consultation for people considered to be ‘at medium risk’ and a consultation dedicated to high-risk patients. During the first consultation, a detailed interview about family and personal history is conducted, followed by a complete physical examination. Depending on the medical history and the results of the examination, additional tests are prescribed and the patient is monitored regularly. For high-risk individuals, a referring doctor is appointed and annual follow-up is offered. This personalised follow-up allows for better risk management by adjusting screening strategies to each individual situation. In addition, topics such as fertility and care during pregnancy are discussed during these consultations, ensuring comprehensive, multidisciplinary care.

The importance of screening, particularly in the context of genetic cancers, is now more relevant than ever. Cancer is the second leading cause of death in Belgium, behind cardiovascular disease, and is affecting more and more people. With an ageing population and an increase in lifestyle-related risk factors, the role of general practitioners in prevention and screening is more crucial than ever. We must remind our patients of the importance of prevention, and we must also be at the forefront of scientific knowledge in order to offer the best possible recommendations.

Genetic medicine and new advances in screening give us hope for a reduction in serious cancer cases, but this requires constant commitment on the part of general practitioners. Our role is not only to treat, but also to prevent and support our patients in a comprehensive care pathway, taking into account their family history, genetics and lifestyle.