Enabling Comprehensive Carrier Screening

Carrier screening is often restricted to a limited set of variants known to have an elevated carrier rate in a particular ethnic group. This approach gives an incomplete picture of carrier risk and has the potential to provide a false sense of confidence for couples planning for a family – particularly in geographical areas with a dense population of individuals with shared ancestry.

In collaboration with our clinical services team, the Congenica platform enables truly comprehensive carrier screening for couples planning for a family. This is accomplished by constructing a combined digital genetic profile. The result is better actionable knowledge and higher family planning confidence for the couple.

How it works

 The couple’s genetic data is used as input. Principles of autosomal recessive and X-linked inheritance are used to computationally construct genetic models of the couple’s potential offspring.
 Data for both of the parents as well as the modeled data for the couple’s potential offspring are uploaded to the Congenica clinical decision support platform for interpretation.

The full functionality of the Congenica platform is available to support data analysis and interpretation including:

  • Standardized clinically-approved workflows: Ensure consistent application of ACMG and ACGS recommended SOPs
  • Support for pre-set virtual gene panels and curated variant lists: Make your analysis as broad or as specific as you want
  • Automated interpretation of known variants: Interpret variants you’ve seen before in as little as 5 minutes
  • Auto-ACMG classification of unknown variants: Save significant time interpreting variants you haven’t previously seen
  • Full audit trail: Easily maintain complete records for proof of CAP and CLIA compliance

Full support from sample to report

  • Sequencing – Use your own sequencer or let us facilitate access to clinical grade sequencing through our accredited and certified partners
  • Secondary analysis – Upload FASTQ files directly and we’ll perform variant calling. Or use your own in-house or 3rd party pipeline for variant calling and upload the VCF output
  • Tertiary analysis – Our clinical service team creates the computational models for the potential offspring and uploads the resulting VCF files
  • Interpretation – Interrogate the data directly or leverage our clinical services team to perform a first pass check of the data or to create a final report
  • Reporting – Generate a customizable report for export and presentation of the results to the ordering clinician

Benefits of using Congenica

  • Supports considering genetic data from both the mother and father
  • Supports a pan ethnic approach for a comprehensive carrier profile
  • Provides interpretation tools to make your analysis as narrow or as broad as you like
  • Ce Marked IVD platform* ensures the highest levels of quality
  • Unparalleled scalability sets your lab up for success now and in the future

Why Congenica’s clinical services team?

Our team is staffed with UK-based, HCPC registered clinical scientists
We have extensive rare disease expertise having interpreted thousands of exome and genome cases, including for the Genomics England 100K genome project
Our work has been independently assessed by GenQA and awarded full marks every year since 2016, ensuring the highest quality genomic data analysis

Partner with Congenica

Discover how easy it is to provide comprehensive carrier screening when you partner with Congenica. Talk to a clinical expert today.