Our greatest untapped resource: our patients

J Community Genet. 2021 Apr;12(2):241-246. doi: 10.1007/s12687-021-00524-5. Epub 2021 Apr 21.

Abstract

Healthcare is continually evolving to meet the changing needs of twenty-first century populations whilst striving to keeping pace with medical and technological advancements. Patients and clinicians remain the constants in this evolving environment, sitting at the cutting edge of new evidence and innovation and at the coalface of clinical services which need to address the increasingly challenging health priorities we face as a society. Patients and clinicians, positioned centre stage in this changing world, must adjust their relationships and partnerships to reduce the burden of illness and ensure that multifaceted care needs are all properly addressed. In rare diseases, this relationship between patients and professionals demands a new model of care, in which patients are active, valued partners in their own care and function not as 'enlightened self-interested' individuals but as experts by experience. The unique characteristics of rare diseases demand that care evolves beyond multidisciplinary team care to 'Networked-care', in which care is prescribed based upon the body of experience and expertise of a community of experts and patients (who are experts by experience). Healthcare models are being redrawn around a new norm of clinical practice based on true patient-clinical partnerships in care. A partnership with patients, when supported by proper investment, is a collaborative relationship that aligns both the medical and clinical perspectives of professionals with a holistic perspective of patients' life experiences. Such partnerships can (i) ensure that decisions around care and design of services are needs-led, (ii) reduce the fog of uncertainty that surrounds rare diseases, (iii) amplify the success of new discoveries, and (iv) create breakthrough innovations: in these ways, patient-clinical partnerships increase the efficiency and effectiveness of our work and build a more sustainable future for our healthcare services.