Re-evaluation of Whole Exome Sequencing (WES) Variants

Blueprint Genetics is dedicated to providing clients with access to the most current and relevant scientific information. From September 2018 onwards, Blueprint Genetics provides a WES re-evaluation service that:

  • revisits reported VUS and LP variants from a previous WES order
  • can be requested between 12-24 months after the original results are reported
  • is offered at no cost
  • might change the previous variant classification based on advances in scientific knowledge made between the time of reporting and the time of re-evaluation

The goal of Blueprint Genetics’ WES variant re-evaluation service is to review all available scientific information in an attempt to re-classify variants originally classified as VUSs or as Likely Pathogenic. Re-evaluation is done only for those variants that have been described in the clinical report.

How to order:

1) Contact support@blueprintgenetics.com via email / fax requesting WES re-evaluation and include the Order ID (more detailed contact information for Support below)
2) If multiple variants (VUS, LP) were reported, indicate the variant(s) you want re-evaluated
3) Include up-to-date clinical and/or family history information. Alternatively, indicate if there is no change. A detailed description of the patient’s phenotype gives us the best chance for reclassification of the variant in question. Note: do not include any identifiable information about your patient
4) Once we have received the request for variant re-evaluation and updated clinical information, the TAT is 10 working days
5) Once the re-evaluation is complete, an updated report will be available in Nucleus

What does the WES Variant Re-evaluation involve?

Upon request, we review the relevant literature, available mutation/variant databases, and the latest research for new classifications or information regarding the previously reported VUS and Likely Pathogenic variant in question and evaluate whether the new evidence will impact the original variant classification.

Can I request variant re-evaluation for VUSs or likely pathogenic variants identified from panels?

At this time, we are not providing re-evaluation of VUSs identified from panel testing upon request. The classification of VUSs (Variants of Uncertain Significance) rarely change to Likely Pathogenic or Pathogenic when re-evaluation is requested by a clinician. In our experience, continuous re-evaluation of VUSs identified from panel testing has not had a significant clinical contribution.

However, in the event that we do re-classify a VUS for one of your patients while evaluating the same variant in another patient, our laboratory will provide you with an updated result. Our interpretation team analyzes millions of variants from thousands of individuals with rare diseases. Our database, and our understanding of variants and related phenotypes, continues to grow by leaps and bounds. Our laboratory is well positioned to re-classify previously reported variants as new information becomes available.

For those VUSs that have the greatest likelihood to be re-classified, we provide our no cost VUS Clarification Service.  Please click here for more information.

What variants are eligible for re-evaluation under the WES Variant Re-evaluation service?

Variants with a classification of VUS (VUS favoring pathogenic) or likely pathogenic are eligible for the WES Variant Re-evaluation service. Re-evaluation is done only for those variants that have been described in the clinical report.

 

Beginning in summer 2019, a more extensive WES Re-analysis will be available. This more extensive re-analysis analyzes the previous order with bioinformatics analysis and a full interpretation. The goal is to potentially find new clinically relevant variants, for example in light of new phenotypic information from the patient. More information on the ordering process and price will be available later.

 

Contact information:

North America

Blueprint Genetics
support.us@blueprintgenetics.com
Fax: +1 650 446 7790

Blueprint Genetics
1268 Missouri Street
San Francisco
CA 94107
USA

or

Europe

Blueprint Genetics
support@blueprintgenetics.com
Fax: +358 9 8565 7177

Biomedicum Helsinki 1
Haartmaninkatu 8
00290 Helsinki
FINLAND