Results, Interpretation & Report Received

Comprehensive Genome Sequencing

For comprehensive genome sequencing, a final clinical report consists of all clinically significant variants that were detected and interpretation of these results. This report will be returned to the ordering physician.  For technical genomes, aligned data is provided in the form of a bam file with a bam index. From the DRAGEN pipeline, bams are approximately 50-75GB each. From the GATK pipelines, each bam file is approximately 150-175GB. Bam index files are several MB. VCF files are provided for technical genome sequencing. Overall performance metrics are evaluated and distributed as a PDF report for the technical genome only.  

Comprehensive (annotated and interpreted) genome sequencing

Most physicians and healthcare providers will request comprehensive genome sequencing. The samples are processed the same way as for a technical genome, with an additional steps of variant annotation and evaluation. Variants will be annotated using the Carpe Novo software pipeline developed by the HudsonAlpha Institute for Biotechnology informatics team. Variants will be reviewed by the HudsonAlpha Clinical Services Lab’s team of clinical genomics experts. A final report signed by a physician will be returned to the ordering physician.

Physician ordered tests and results are subject to the terms and provisions of the applicable Lab Test Requisition Form(s) and the provisions contained within the Methods and Limitations sections of the Data Analysis Test Report delivered to the ordering physician. Patients will not receive medical results, or a diagnosis, or a recommendation from the HudsonAlpha Clinical Services Lab. If any questions or concerns arise about what is learned through whole genome sequencing, patients should contact their physician or a genetic counselor.

Patients have a right to receive a copy of their completed test interpreted report.  Patient rights and procedures to request and receive a copy of their report are described in the HudsonAlpha Clinical Services Lab Notice of Privacy Practices, a copy of which is below in the footer of the website.  


Archiving Samples

The HudsonAlpha Clinical Service Lab retains genomic data onsite for two years, and have an overall data storage policy of 25 years of retention. DNA specimens are archived through the reporting of results at a minimum.