Re-evaluation and Re-analysis of Whole Exome Sequencing (WES)

Blueprint Genetics provides a WES Re-evaluation service in an attempt to re-classify variants originally classified as a variant of uncertain significance (VUS) or as Likely Pathogenic.

In summer 2019, we will complement our WES offering with a WES Re-analysis service for previous WES orders, including a complete new review of the patient’s WES data.

Blueprint Genetics WES Re-evaluation Service

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 via email 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.

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.

Blueprint Genetics WES Re-analysis Service

The Blueprint Genetics’ WES Re-analysis service involves a complete review of the patient’s WES data. The data will be run through a new bioinformatics analysis and all identified variants will be fully interpreted. The goal is to identify previously unreported clinically relevant variants, for example, in light of new phenotypic information or because of newly identified disease-gene associations. Our WES Re-analysis service can be requested once at no cost for any index patient who had WES performed at Blueprint Genetics and had unclear or negative results. The no cost re-analysis can be requested between 12 and 24 months after the initial WES result was reported. The WES Re-analysis service will be available in July, 2019. WES orders placed after November 27th, 2017 are eligible for this service.

If the patient sample is no longer available, e.g. in the absence of long-term storage consent, we can perform the WES Re-analysis bioinformatically. In such situation, however, we will not be able to confirm any diagnostic findings with orthogonal testing at the time of re-analysis. A report will be issued based on high-quality NGS sequencing data.

Contact information:

North America

Blueprint Genetics
Fax: +1 650 446 7790

Blueprint Genetics
1268 Missouri Street
San Francisco
CA 94107



Blueprint Genetics
Fax: +358 9 8565 7177

Biomedicum Helsinki 1
Haartmaninkatu 8
00290 Helsinki

Last modified: 05.15.2019