心理遺伝学における心理学者:患者ケアにおける構造化された役割を提唱する視点
Saartje Van Pottelberghe1,2, Nina Kupper3, Frederik Hes4,5
1Genetics, Reproduction and Development, Vrije Universiteit Brussel, Brussels, Belgium. saartje.vanpottelberghe@uzbrussel.be.
Abstract:
Inherited cardiac conditions (ICC) require lifelong management and raise significant psychological challenges. Patients with suspected ICCs typically begin their journey with a clinical diagnosis in cardiology, an often-distressing experience that leaves them feeling vulnerable. Yet, psychological care remains inconsistently integrated into cardiogenetics, while fields such as oncogenetics, reproductive genetics, and neurogenetics have integrated psychological support much earlier. These latter fields are driven by ethically complex decisions like prophylactic surgery, pregnancy termination, and predictive testing for conditions such as Huntington's disease. Consequently, psychologists in those fields are routinely involved across all stages of genetic testing, offering emotional support and guiding decision-making. Despite growing openness to biopsychosocial approaches, cardiogenetics has traditionally prioritized symptom management, medical interventions, and risk stratification, with less attention for emotional and psychosocial needs.As a result, patients with ICCs may remain vulnerable to distress, grief, and uncertainty, especially when a genetic risk (carriership of a pathogenic variant in an ICC gene) is discovered, following events like the sudden cardiac death of a relative. Many carriers struggle with guilt, fear of passing on a pathogenic variant, and challenges in family communication, all of which can impact adherence to medical advice.Drawing on international experiences of disparities observed across countries and centres, this viewpoint calls for the structured integration of psychologists in cardiogenetic care teams, emphasizing their role in patient-centred communication, informed decision-making, and long-term psychological support.
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