Tonight I watched the London Calling 2023 panel “The future of clinical genomics.” Four panelists were asked several questions. The first was about the role of bioinformaticians in clinical work. One panelist spoke about how clinicians work on the automation and presenting the data. The exchange with bioinformaticians has helped the clinicians make the most our of the data, one person mentioned. One audience member asked about what changes to sampling have to be made to use Nanopore sequencing in clinical settings. Instead of paraffin embedded samples, fresh tissues are needed. FFPE can be used in some procedures with short-read sequencing technologies. Another panelist was asked about work in other populations. The panelist explained that they work with bioinformaticians. They noted that current databases lack samples from the Middle East, for example. A clinician from the UK spoke about how long-read sequencing is being used more often now by pediatricians. An attendee from Stanford asked about how reanalyzing older data in systematic ways. One panelist confessed that systematic reanalysis is still being developed. Reanalysis standards or guidelines would be very useful in both clinical and teaching settings. Another consideration is the growth of databases with structural variation data and other patient sample groups.
