Delivering genomic medicine in the United Kingdom National Health Service: a systematic review and narrative synthesis

Abstract

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Patients’ and professionals’ views related to ethical issues in precision medicine: a mixed research synthesis

“…Apart from these positive assessments, studies also demonstrate that some professionals are uncertain about the value of genetic testing [ 51 , 90 ] and doubt that all patients will benefit significantly from PM [ 30 , 31 , 42 , 49 , 54 , 57 ]. In addition, Kichko et al found in their study differences in attitudes between physicians from Pennsylvania and Bavaria.…”

“…One factor that could limit access to PM might be the lack of coverage by health insurance companies for medication [ 54 ], tests [ 29 , 80 ] or genetic counselling [ 90 ] and the inability of patients to pay for PM out of pocket [ 73 , 90 , 97 ]. Physicians are described as gatekeepers and their decisions on medical appropriateness, which may vary and be determined by guidelines [ 29 ], condition access to PM interventions.…”

“…Patients perceive these variations as disparity in access and some patients also suspect that physicians withhold access because of the high cost [ 26 ]. In addition, age [ 54 , 79 ], the availability of tests [ 29 , 80 ], the clinic or hospital location, patient attitudes, norms and education, as well as social factors like discouragement by significant others are identified as barriers for PM [ 90 ]. Another factor could be the lack of communication to the public about the options PM offers.…”

Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system

“…In neonatal encephalopathy, even if rWGS is ordered promptly and performed rapidly in the context of a regional ICU with a full complement of pediatric subspecialists experienced in newborn genomic medicine, a molecular diagnosis may be made too late to improve outcomes. To decrease newborn morbidity and mortality optimally, we suggest that rWGS must be implemented within a comprehensive system for rapid delivery of precision medicine (CRPM) (Stark et al 2018;Pearce et al 2019). As rWGS gains broader use in infants in ICUs worldwide, such a CRPM system will be particularly needed in hospitals lacking the full complement of pediatric subspecialists, including neurologists or medical geneticists experienced in CRPM.…”

A Web Screening on Educational Initiatives to Increase Citizens’ Literacy on Genomics and Genetics

“…This might be achieved through the improvement of literacy of healthcare professionals and citizens ( Etchegary and Wilson, 2013 ; Calabrò et al, 2020 ). Increasing citizens’ literacy requires not only specific initiatives aimed at the appropriate and conscious utilization of the new “omics” technologies but also correct information of users, for example, on the direct-to-consumer genetic tests (DTC-GTs) ( Pearce et al, 2019 ; Hoxhaj et al, 2020 ; Pastorino et al, 2021 ). Educational initiatives are therefore needed to allow citizens to acquire correct and reliable information on both the benefits and possible risks of PM in order to make appropriate health decisions supported by healthcare professionals ( Ricciardi and Boccia, 2017 ) and to become active players in the decision-making process ( Etchegary and Wilson, 2013 ), as already highlighted in the Vision Paper on Personalised Medicine Research and Implementation by 2030 from the International Consortium for Personalised Medicine (ICPerMed) ( International Consortium for Personalised Medicine, 2019 ).…”