Language in clinical genetics is never neutral. The terms used to describe genetic concepts, like mutation or variant, sporadic or hereditary, patient or counselee not only shape scientific discourse but also profoundly affect how individuals understand their risks, experience counselling, and make decisions. Terminology carries ethical weight, influencing perceptions of identity, stigma, and inclusion. Precision and empathy in language are therefore central to ethical and effective care. We propose the use of consistent terminology in communication that integrates three ethical responsibilities, promoting inclusivity through careful terminology, fostering psychosocial awareness by recognising that words can evoke fear or stigma, or offer reassurance and communicative clarity. This can be achieved by standardising professional terminology (e.g., variant, sporadic/hereditary) while co-constructing meaning with counselees. We recommend avoiding ambiguous labels like positive or negative, using precise qualifiers for variants and harmonising language across professional disciplines. Communication itself can be a clinical intervention, as careful paraphrasing and clarification both enhance understanding and provide emotional support. As genetic testing becomes increasingly mainstream in oncology, empathetic, precise, and patient-centred communication is essential. By fostering clarity and reducing stigma, language can support informed decision-making, trust, and ultimately, the ethical integration of genetics into everyday healthcare.
Van Pottelberghe, S., Hes, F., Genuardi, M., Advancing towards clear and patient-centred language in cancer genetics., <<EUROPEAN JOURNAL OF HUMAN GENETICS>>, 2025; 2025 (Nov.): N/A-N/A. [doi:10.1038/s41431-025-01976-w.] [https://hdl.handle.net/10807/326485]
Advancing towards clear and patient-centred language in cancer genetics.
Genuardi, Maurizio
2025
Abstract
Language in clinical genetics is never neutral. The terms used to describe genetic concepts, like mutation or variant, sporadic or hereditary, patient or counselee not only shape scientific discourse but also profoundly affect how individuals understand their risks, experience counselling, and make decisions. Terminology carries ethical weight, influencing perceptions of identity, stigma, and inclusion. Precision and empathy in language are therefore central to ethical and effective care. We propose the use of consistent terminology in communication that integrates three ethical responsibilities, promoting inclusivity through careful terminology, fostering psychosocial awareness by recognising that words can evoke fear or stigma, or offer reassurance and communicative clarity. This can be achieved by standardising professional terminology (e.g., variant, sporadic/hereditary) while co-constructing meaning with counselees. We recommend avoiding ambiguous labels like positive or negative, using precise qualifiers for variants and harmonising language across professional disciplines. Communication itself can be a clinical intervention, as careful paraphrasing and clarification both enhance understanding and provide emotional support. As genetic testing becomes increasingly mainstream in oncology, empathetic, precise, and patient-centred communication is essential. By fostering clarity and reducing stigma, language can support informed decision-making, trust, and ultimately, the ethical integration of genetics into everyday healthcare.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.



