Clinical and Laboratory Collaboration: Team Approach to Next Generation Sequencing Variant Interpretation

2014

Kellie Ellerbusch
[email protected]
402-559-4892

Next Generation Sequencing technology can have the unintended consequence of creating diagnostic dilemmas due to variants of uncertain clinical significance. To minimize this our laboratory uses an internally-derived set of guidelines, which incorporates the ACMG Proposed Evidence Guidelines for Interpretation of Sequence Variants, for variant classification. After preliminary data analysis, we collaborate with clinical genetics providers at UNMC to discuss the patients phenotypic findings. Our data shows that by pairing molecular information with prudent clinical correlation via a team approach, we have found that we classify variants more appropriately and are better able to provide guidance for ambiguous UCS variants.

Next Generation Sequencing

Conference presentations and posters presented

Professionals

Electronic (disc, CD, 508 compliant web posting)

[email protected]

N/A