Streamlining genetic testing by standardizing its report formats and exchange among all stakeholders
Scientific objectives A growing base of genetic testings is now available for clinicians and its results could improve the quality of care and its outcomes. In addition, these testings are also helpful for predictive medicine and early detection of diseases. Genetic testings could further personalize the care processes based on the patient individual genetic makeup. Genetic testing methods are diverse and span from testing for known germline mutations in the context of single-gene disorders, to full sequencing of genes in tumor tissues looking for somatic variations in cancer cells, and on to whole-exome sequencing in cases of predictive medicine or unknown diagnosis. As a consequence of that diversity and the constantly growing number of techniques yielding new result formats less familiar to clinicians, existing report formats attempt to contain rather detailed descriptions of the tests performed, but that approach makes it hard to understand the interpretations of the testing results and given recommendations. Genetic testing reports should be both human readable to its users, and at the same time also be processable to computerized algorithms computing the interpretation of the genetic testing results. Thus, it is equally important to standardize the way genetic testing interpretations are represented [1] as an inherent part of the report structure.