Quality control & transparency

Blueprint Genetics is committed to provide the highest quality genetic testing for our customers.

First, in order to achieve and demonstrate high quality of testing, we have performed comprehensive and fully traceable analytic validation. The analytic validation includes description of technologies that are used in the diagnostic process, full disclosure of the publicly available materials and datasets used, applied statistical approaches, exact definition of the target regions and unsupervised and complete assessment of the performance metrics for different mutation types.

Secondly, for communicating our testing quality effectively, we have prepared a detailed documentation of the analytic validation experiments and results and provide all relevant data on our website for each individual panel and test type allowing our customers to openly audit our diagnostic offering.

Thirdly, compilation of in-depth quality data in each test report enables the clinician to directly evaluate the test’s performance and have confidence that all actionable information has been provided when deciding the clinical follow-up.

Being fully transparent, Blueprint Genetics is setting a high standard for genetic testing and invites our customers to join the effort of improving diagnostics of inherited disorders for the benefit of the patients.

 

You can read more about the Transparency at Blueprint Genetics by following the links in the table below:

 

White paper
 Validation of clinical testing
Posters
Validation of OS-Seq panels for clinical diagnostics of inherited disorders
Analytic Validation of Whole Exome Sequencing for Clinical Diagnostics of Inherited Disorders
Validation of low-coverage whole genome sequencing for detection of copy number aberrations in inherited disorders
Video
Selecting the optimal genetic test for your patient
Podcast
Transparency in genetic diagnostics

 

 

Blueprint Genetics is ISO 15189 and CAP accredited genetic diagnostic laboratory.

Quality Management System

The Quality Management System of Blueprint Genetics is designed to adapt the commonly used principles of effective quality management. Blueprint Genetics NGS pipeline is ISO 15189 accredited and is compliant in every step from sample arrival to clinical interpretation. The ISO 15189 standard accreditation is carried by FINAS. The information about the scope is available on the website: finas.fi.

Analytic Validation

Analytic validity (Analytic validation report) of Blueprint Genetics’ genetic tests has been demonstrated for SNPs in a study utilizing a standard reference sample with high-quality variant calls and for INDELs using a cohort of reference samples from the 1000 Genomes Project. Analytic validation results show that Blueprint Genetics’ NGS assays achieve, on average, 0.992 sensitivity, 1.000 specificity, 0.992 positive predictive value, 1.000 accuracy and 0.995 reproducibility for detection of SNPs and >0.92 sensitivity for detection of INDELs of up to 18 bases. Blueprint Genetics panels have high 15x coverage (99.15 -100%) which is highly uniform across the target regions.

Quality Control

Blueprint Genetics participates in the CAP proficiency testing programs. In addition, Blueprint Genetics has an internal Quality Control system, which consist of management of facilities, equipment, materials and software, as well in-process quality control of methods, examinations and data analysis. Quality control sample DNA is added to each diagnostic sequencing test and sequence coverage is evaluated and monitored for each sample. Results of the tests are either accepted or rejected based on sequence coverage of each sample (>98% of regions with sequencing depth of 15x) and the sensitivity (>0.98) for the control sample in the same run.

Mutation Confirmation

Confirmation of all pathogenic and likely pathogenic variants is repeated initially three times using Sanger capillary sequencing and subsequently when needed.

Variant Interpretation and Clinical Statement

Blueprint Genetics’ policy for variant classification is based on published guidelines by the ACMG. Blueprint Genetics delivers only comprehensive clinical statements including detailed interpretation of key findings. All of our reports include clinical anamnesis, detailed description of used methodology, clear summary of the identified mutations following international best practice guidelines (CMGS / ACMG). It also includes carefully weighted interpretation of the average genotype to phenotype associations with links to the cited publications and recommendation for family screening. We at Blueprint Genetics continuously improve our testing processes to always meet your patient’s need with the most valuable diagnostic service.

Operations in North America

Our US facility in San Francisco provides customer support, clinical genetics support, billing, and sample reception for our customers in South and North America. After receiving the samples, our office ships them with a secure courier service to our CLIA certified and CAP and ISO 15189 accredited facility in Helsinki, Finland. Our service model, which has been evaluated by US authorities for CLIA and CAP, ensures our ability to maintain our highest quality standards.