View Only- Featuring the 2020 Digital Edition of Genetics Counselor Forum on Requesting and Working with Raw Genomic Data from the ACMG 2020 Digital Edition- OnDemand-Slides

Slides

Pdf Summary

The document discusses the process of requesting and working with raw data in the context of genetic testing. Raw data refers to the primary files generated from next-generation sequencing, such as whole genome sequencing, whole exome sequencing, and panels. These files come in different formats, including Fastq, Bam/Cram, and VCF. There are different purposes for obtaining raw data, such as reanalysis for future diagnosis and gene discovery.<br /><br />The document outlines the steps involved in the raw data request process, including identifying the lab's data release policies, completing necessary paperwork, and understanding any fees. There are different requirements for releasing raw data to providers, patients, and researchers.<br /><br />The document also covers considerations for storing and utilizing raw data, including the use of servers, cloud storage, and backup storage. It highlights the importance of proper analysis using tools and pipelines for variant analysis, taking into account patient consent and the handling of incidental findings. It also emphasizes the need for clear communication of reanalysis timelines.<br /><br />When raw data is released, the lab is no longer responsible for the identification of new variants, and it is important to consult relevant providers and confirm such variants with a clinical laboratory.<br /><br />The document discusses important considerations in the raw data request process, such as respecting patient autonomy, limiting false positive results, ensuring proper consent, and the need for consensus guidelines to improve the process.<br /><br />The document includes case vignettes that illustrate the importance of reanalyzing raw genomic data for the identification of missed variants and the impact on patient management.<br /><br />Lastly, the document provides information on software tools for annotating and filtering variants, as well as additional resources for analyzing raw genomic data, such as the Genome Aggregation Database (gnomAD) and ClinVar.<br /><br />Overall, the document provides valuable insights into the process of requesting and working with raw data in genetic testing, highlighting the benefits, risks, and considerations involved.

Keywords

raw data

genetic testing

next-generation sequencing

data request process

variant analysis

patient autonomy

consent

missed variants

software tools

benefits