Exploration of genetic health professional - laboratory specialist interactions in diagnostic genomic sequencing

Like any new technology, rapid integration of genomic sequencing (GS) into the clinical setting can pose challenges for genetic health professionals (GHPs) using it to diagnose patients. We conducted semi-structured interviews with 31 clinical geneticists and genetic counsellors across Europe, Australia and Canada to gain a better understanding of the issues they were experiencing when requesting GS and receiving reports from laboratories. There was a spectrum of interactions between genetic health professionals and laboratories. This ranged from those that almost exclusively request sequencing from the laboratory that is affiliated with their genetic service, to those who do not have access to exome sequencing 'in-house' and instead send patient samples to a selection of different external laboratories. In general, a closer interaction between the clinicians and the laboratory scientists increased the involvement of the clinicians in the analysis/interpretation process. This appeared to lead to fewer, but more clinically relevant variants being reported, and greater GHP satisfaction in what is reported. Our findings suggest that GHPs consider integration of clinical expertise into the analysis/interpretation process is critical to ensure that the variants reported are of high clinical significance to patients. They also highlight the importance of providing GHPs with training in report interpretation.