Platform Overview
Franklin is an advanced bioinformatics, cloud-based Clinical Decision Support Software (CDSS) platform designed to streamline genetic report generation and support clinical decision-making. It provides a comprehensive framework and tools for genomic data management and analysis, enabling the identification and classification of genetic variants, annotating them with relevant information, and delivering meaningful, actionable insights.
The platform integrates raw genetic data with relevant patient metadata and applies validated pipelines for alignment, variant calling, annotation, and interpretation. The platform compiles publicly available datasets, laboratory-specific datasets, and real-time curated data from the professional community to generate actionable clinical insights. These insights are then compiled into a comprehensive, custom clinical-grade genetic report, supporting user interpretation and aiding clinical decision-making.
Intended Purpose Statement
Franklin intended to facilitate human genetic analysis by providing healthcare professionals with clinical insights, helping interpret the human genome data in various applications.
Indications For Use
Franklin may be used in the context of the following genetic testing applications:
Identification of hereditary and somatic genetic mutations for diagnosis and prevention purposes, including phenotypic-driven analysis.
Pre-symptomatic testing of predisposition to hereditary mutation driven conditions.
Prognostic prediction and risk stratification based on genetic markers and clinical data, including decision support for patient management based on genotype-to-drug associations.
Preconception screening- carrier screening.
Preimplantation testing.
Prenatal genetic testing.
Newborn genetic testing.
Intended Users
Intended users are laboratories, hospitals, or other organizations specializing in genetic analysis, interpretation, and reporting, staffed by genetic specialists with advanced expertise in genetics.
Intended Population
Franklin is intended for use on genomic data obtained from individuals undergoing genetic testing in various clinical contexts.
Type of Specimen(s) Required
Franklin operates on in vitro genomic data derived from human biological specimens. While the platform itself does not handle physical samples, it requires processed genetic sequence data (e.g., FASTQ, BAM, VCF files) that originate from specimens such as whole blood, cord blood, dried blood spots, saliva swabs, cultured fibroblasts, frozen tissues, etc.
Operating Principles
Franklin operates by processing and interpreting next-generation sequencing (NGS) data derived from human biological specimens. The platform utilizes validated bioinformatics pipelines to detect, annotate, and classify genetic variants across a range of applications.
Supported Applications
Franklin supports a diverse range of genetic analyses, including interpretation of raw NGS data for rare disease diagnostics, somatic mutation profiling, Expanded Carrier Screening (ECS), and family-based analyses such as trio or inheritance studies. The platform is compatible with data generated from various sequencing technologies, including Whole Exome Sequencing (WES), Whole Genome Sequencing (WGS), Chromosomal Microarray Analysis (CMA), and targeted gene panels.
Nature of Output Provided
Franklin delivers qualitative, semi-quantitative, and quantitative outputs to support genetic data interpretation:
Qualitative: Identifies and classifies genetic variants (e.g., pathogenic, likely pathogenic, VUS), and reports presence or absence of alterations such as SNPs, CNVs, and structural variants.
Semi-Quantitative: Provides ranked metrics such as variant allele frequencies, gene coverage categories, and population-based stratification (e.g., cohort frequencies). QC metrics assess sample validity against user-defined thresholds.
Quantitative: Displays exact values such as variant population frequencies, internal lab frequencies, and aggregated statistics from the Franklin community.
Limitations
Franklin is a medically supervised engine, and it does not make autonomous decisions. It is neither intended to be used as a primary diagnostic tool nor as a substitute for professional healthcare advice.
Each laboratory is responsible for ensuring compliance with applicable international, national, and local.
Newly published evidence is not immediately available, but database content is frequently updated.
Identifying information
The formal trade name of the software is “Franklin by QIAGEN.” For simplicity, it is referred to as “Franklin” throughout the Instruction For Use.