Journal article

Genetic health professionals' experiences with initiating reanalysis of genomic sequence data

Danya F Vears, Karine Senecal, Pascal Borry

Familial Cancer | SPRINGER | Published : 2020


Despite the increased diagnostic yield associated with genomic sequencing (GS), a sizable proportion of patients do not receive a genetic diagnosis at the time of the initial GS analysis. Systematic data reanalysis leads to considerable increases in genetic diagnosis rates yet is time intensive and leads to questions of feasibility. Few policies address whether laboratories have a duty to reanalyse and it is unclear how this impacts clinical practice. To address this, we interviewed 31 genetic health professionals (GHPs) across Europe, Australia and Canada about their experiences with data reanalysis and variant reinterpretation practices after requesting GS for their patients. GHPs describe..

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University of Melbourne Researchers