A patient’s clinical presentation may change and evolve over time, as does our understanding of the genetics underlying hereditary disease. For this reasons, Blueprint Genetics offers: A more comprehensive WES Re-analysis Service, allowing the sequencing data from a previous exome to be re-analyzed, in its entirety, to look for new clinically relevant variants that may explain or contribute to your patient’s diagnosis.

Blueprint Genetics WES Re-analysis Service

WES Re-analysis service provides full re-analysis and interpretation of WES and WES Family orders for at least 12 months and up to 24 months from the original report. For WES re-analysis, the sample is resequenced and analyzed, taking into consideration any new data available including phenotype, literature, population data, etc. The goal is to find new clinically relevant variants that may explain or contribute to your patient’s diagnosis.

What is involved in the WES Re-analysis service?

• The patient’s sample is resequenced and analyzed, taking into consideration any new data available including phenotype, literature, population data, etc.
• A new report is provided, including full interpretation of any newly identified variants and updated classifications of previously identified variants where applicable
• All WES Re-analysis requests will be analyzed as WES, which includes sequencing and deletion/duplication analysis (or WES Family, if the initial order was a WES Family order).
• A new report will be issued and will be available on our online portal, Nucleus. Faxed or land mailed copies are available upon request.
• The turnaround time of the WES Re-analysis Service is 8 to 10 weeks.
• Secondary findings can be included upon request, if the patient was consented either at the time of the preliminary order or during the re-analysis order
  • If the patient opted-in for secondary findings with the primary order then the secondary findings will always be reported during re-analysis and no new consent is needed
  • If the patient had not consented to receiving secondary findings OR if no consent form was provided at the time of the preliminary analysis, but the patient now wishes to receive secondary findings during exome re-analysis, a consent form must be received
  • If no consent form is received, secondary findings will not be reported as all patients must opt-in to receiving secondary findings.

When can I request the WES Re-analysis Service?

We will accept requests for WES Re-analysis for up to 24 months after the original results were reported.

When can I request the WES Re-analysis Service?

• We will accept requests for WES Re-analysis any time between 12-24 months after the original results were reported.
  • Waiting at least 12 months between reporting and re-analysis allows the best chance for the maturation of scientific knowledge
• Requests made less than 12 months after the original results are reported will be performed if there is a significant change to the patient’s phenotype or the clinician provides new scientific information to support the re-analysis.

What is the diagnostic yield of WES re-analysis?

The diagnostic yield of exome reanalysis varies but is often estimated to be between 5 to 15%. However, this estimate is highly dependent upon the technology and interpretation strategy used during the first analysis. At Blueprint Genetics, our WES is analyzed using a genotype-first approach which means that we look at all likely disease-causing variants identified by our pipeline to see if the variant and gene offer an explanation for all, or part, of the patient’s phenotype.

The genotype first approach allows for the identification of atypical presentations of known disorders, expansion of phenotypes, diagnoses in newly established genes and reporting of variants in promising candidate genes.

Given Blueprint Genetics interpretation strategy, a minor change in the patient’s phenotype is unlikely to change our interpretation of the identified variants. However, a significant change in the patient phenotype or clinical information (for example, symptoms in a new body system, new family history, etc) may result in new variants being reported or updated classifications for existing variants.

How do I request a WES Re-analysis?

• Send your request to our Customer Support team by email (support.us@blueprintgenetics.com)
• Please do not include any patient identifying information in your email.
• Include:
  • the previous Order ID, patient’s initials and DOB.
  • a brief description of all new clinical information (updated phenotypic information).
  • If you, or another health care provider at the same institution, did not order the original WES, a signed PHI release form is required.

How do I request a WES Re-analysis?

• Send your request to our Customer Support team by email (support@blueprintgenetics.com)
• Please do not include any patient identifying information in your email.
• Include:
  • the previous Order ID, patient’s initials and DOB.
  • a brief description of all new clinical information (updated phenotypic information).

Contact information:

Blueprint Genetics

support@blueprintgenetics.com

Fax: +358 9 8565 7177

We also provide Variant Reevaluation service, a process that reviews a previously reported variant to determine whether there is any new evidence available that might change its original classification. To learn more, click here.