Genetic counselling articles from across Nature Portfolio

Franco et al. perform a combined phenotypic and genotypic reanalysis of unresolved 128 monogenic diabetes cases. Their approach increases diagnostic yield and highlights the key role of deep phenotyping in previously overlooked cases, and provides a diagnosis for suspected cases.

Globally, pressure is increasing for healthcare systems to deliver on the promise of genomic medicine to improve patient well-being. Although primary care is the ideal setting for leading this effort, primary health systems are overburdened and ill-equipped for this task in many jurisdictions. Integrating professional genetic counsellors may be a solution.

A family tragedy revealed a hidden genetic mutation and transformed my work as a geneticist into a mission to increase awareness of the critical importance of genetic testing.

Current ontologies of race, ethnicity and genetic ancestry rely on categorization, but have limitations — as exemplified by multiracial individuals. We argue that including these individuals will foster inclusion by better capturing complex identities, with equity benefits for the full human population.