American College of Medical Genetics and Genomics (ACMG) released their Secondary Findings (SF) Version 3 list. This list represents an expansion from 59 to 73 genes for which findings should be reported. As with prior versions, Fabric has made this set of genes available as an automated panel within Fabric Enterprise, making reporting on ACMG SF Version 3 accurate, fast, and easy for customers.
Whenever one performs clinical exome and genome sequencing, there is potential for identification of incidental or secondary findings that are unrelated to the original indication for ordering the sequencing. Nonetheless, these findings may be of significant medical value for patient care. To make certain that the appropriate findings are reported to patients as well as to have a clearly defined process for laboratories, the ACMG has, since 2013, provided a list of genes for which secondary findings should be reported. Generally, these are genes for which deleterious mutations are highly penetrant and actionable, and with the increase in genetic knowledge and advances in medical care, this list has and will continue to expand.
Fabric Genomics has actively monitored the ACMG process. In anticipation of this list being published, Fabric has proactively curated and implemented the 73 genes as a virtual panel in Fabric Enterprise. This allows any Fabric customer to seamlessly report on these variants and launch an ACMG SF V.3 panel in a fully automated fashion. This is a clear example of the advantage of leveraging packaged software such as Fabric Enterprise. Important updates related to our fast-developing industry are provided in the software, making it easy for laboratories to adopt the latest innovations. Everything from the continuous additions to OMIM and other gene and phenotype databases to policy changes are proactively included in the Fabric Enterprise software and incorporated into our algorithms. Throughout, Fabric Genomics supports lab adherence to regulatory requirements and processes as we enable you to stay up-to-date with our industry advancements.