The Blueprint Genetics clinical statement has been updated to provide quicker access to an overview of genetic test results. Following valued customer feedback, a summary of all findings has been added to the report.
In the ‘Summary of Results’ on the first page of the report, you will find:
- Primary findings: A summary of genes with variants detected that are thought to explain your patient’s symptoms.
- Additional findings: Other variants detected that are not thought to explain your patient’s phenotype, but are relevant to the report. A sentence has been added summarizing the gene and variant when an additional finding is reported. Further details of the additional findings can be found in Appendix 2 of the report.
- Secondary findings (applicable only for Whole Exome Sequencing tests): A summary of clinically actionable variants in genes determined by the American College of Medical Genetics and Genomics (ACMG). More information about the guidelines followed can be found here. These variants can cause serious disease, but are unrelated to your patient’s symptoms.
More comprehensive information about the findings is provided on the subsequent pages of the report.
As always, our clinical statement is accessible through our online portal Nucleus, or via mail or fax upon request. More information about our reports is available here.
We always appreciate feedback and hope to continue to hear your thoughts on how we can further improve our services. If you have any suggestions for how we can better support your needs, please contact our Client Services team.