Public and patient involvement in research to support genome services development in the UK

Abstract

Public and patient involvement (PPI) -the collaboration in research with members of the public and patients with relevant experience -is becoming well established in health service research in the UK. It is supported by funders and academic institutions. Published principles and guidelines for researchers, developed through consultation and consensus building, are available. Meanwhile, as genome sequencing is adopted into routine health care, translational genomics research and research to evaluate new genomic services are growing. Given the ethical and social implications of offering genome sequencing within a national health service, it is important that researchers give full consideration to planning and implementing meaningful PPI. Here we present five case studies of PPI in a variety of clinical genomic studies, including commentary on positive impacts and suggestions for improvements. We call for funders and academic institutions to continue and increase their efforts to enable and promote PPI across genomic and other health service research.

Personalised genomic medicine is shaping the future of healthcare

“…Expediting the advancement of genomic medicine and the promotion of precision health in the healthcare system worldwide cannot be achieved without enlightening work in other disciplinary aspects, like nurturing talents in genomic medicine by facilitating genomic education for medical professionals. Maher et al shared their experience in developing continuing genomics education programs for nongenetics medical specialists to increase their understanding of genomic medicine and its clinical application in Australia, providing insights into the place of online learning and workshops as implementation strategies to translate the use of genomics from research settings to health systems [12] . Additionally, the inclusion of non-genetic specialty peer experts in the co-design and delivery of education is highly recommended to mediate and translate the evidence for the use of genomics in a specialty, to adapt clinical genetics practice as appropriate to the specialty, and to strengthen cross-specialty relationships to practice genomic medicine.…”