Evaluating disease predisposition
MH Mendel supports human geneticists in diagnosing hereditary disease and creating diagnostic reports for individuals. The analysis follows official genetic guidelines and uses the latest, worldwide-accepted ACMG variant classification criteria.
- Analyze and report variants and phenotypes, out-of-the-box (see sample report)
- User interface steps you through the reporting workflow
- Ready for integration into Lab and Hospital systems
- Patient data and analysis results in digital format at your fingertips
- Create unique value from NGS tests for your clients
- Increase accuracy, delivery time, and quality of your service
- Zero costs for internal database maintenance and bioinfomatic services
- Supports a wide range of assays (Panels, WES)
Molecular Health Guide Platform features
Automatic variant annotation and classification
Variants are annotated with position information (chr, c, p notation), variant effects, and classifications. Variants are automatically classified on a scale from Benign to Pathogenic using the worldwide-accepted ACMG rules. Variants for cancer are automatically classified with biomarker evidence.
Automatic, configurable filters
Technical (QC) filters and biomedical filters (including clinically actionable biomarkers) reduce the initial workload of identifying important variants to a minimum.
Gene filters can be applied online while working on a case or automatically as standard filters to derive various reports from the same lab test.
Application modules and Intuitive Workflow
The MH Guide Platform comes with intuitive modules for Variant Analysis, Clinical Variant Interpretation, Clinical Trial Selection, Medical Guideline Search, Effective, Ineffective and Toxic Medication Analysis, Diagnostic and Prognostic Biomarker views. From the list of variants detected in the patient‘s sample to the final report including medication, trials, or phenotypes, you need only minutes.
There are many standard report templates available and reports can be customized individually for each client and even for each lab test. Reports can be changed after they are signed out and they can be versioned.
Variant Detection Pipeline
If you need a Variant Detection Pipeline (VDP) other than the pipeline you already use (from the instrument, from your own IT), MH provides a validated, high-class MH Guide VDP (RUO) that can map (align) and call variants at very high precision and sensitvity using ethnicity- and gender-specific reference genomes (PHREGs).
Multi-User and Multi-Role Access:
With MH Guide, Lab experts, molecular biologists, molecular pathologists, oncologists, human geneticists, and treating physicians can work together on the same patient case, if required.
Input formats and test (Panels, WES) support
VCF sequencing data are supported, from all NGS tests (DNAseq and RNAseq). Results from other diagnostic tests can be added manually and are included in the analysis and the report.
If adapters are needed for specific lab tests, we deliver them.
Input channels and easy-to-use order process
You can send the NGS test results via a secure Peer-to-Peer (SFTP) connection for high-volume uploads or use our user-friendly MH Order Portal that links Labs and Hospitals ordering single patient analyses.
We deliver the results in digital file formats such as XML and JSON, including all annotations, for easy integration into your clinical workflow and further research use in your organization. The digital result format is called the Molecular Health Clinical Molecular Record (MH CMR). Gene filters can be applied online or as standard filters to derive various reports from the same lab test.
The patient report is also delivered as a printable report (PDF) for immediate use.
MH Guide comes with 50+ expert databases (integrated, contextualized, cleaned, and curated) and a set of specialist data ranging from databases for Variant-Protein associations to Variant-Drug-Gene Variant associations. Every data point is assigned to the right classification and evidence, so that users can rely on the final report and follow links to the source evidence for the conclusions derived from the analysis.
The databases contain 800 million variants from all genes, 5,000 phenotyes, 600 cancer diseases, 300 cancer drugs.
We update the underlying knowledge base frequently, depending on source data availability, our integration cycle, and our quality checks.
Extension of the knowledge base for research
While using MH Guide, you can add knowledge from your clinical experience for productive use and keep it in your local, private use space.
This scenario may be required in certain research situations, e.g., for an organization working with rare diseases or diseases for which no biomarkers are known.
MH Guide users can create their own Clinical Variant Interpretation (CVI) or variant classification.
We operate the software as a SaaS solution in our own computer center following the high European standards for GDPR and ISO 13485 and the standard „Trusted Security Infrastructure“ regulations (TSI) for operating and housing IT solutions.
Our whole operation is a CAP/CLIA Dry lab and is HIPPA-compliant.
Anonymized patient data:
MH Guide analyses require only anonymized patient data. If required, MH Guide also supports use of patient data, providing built-in encryption/decryption services following ePHI regulations.
More of our powerful applications for decision support
Molecular Health Guide (MH Guide) identifies safe and effective medication for cancer patients by analyzing the cancer’s molecular profile. It matches detected tumor mutations to the world’s knowledge in the field of oncology and helps medical experts to create a patient-specific clinical report with treatment recommendations.
Molecular Health Guide BRCA (MH BRCA) supports medical professionals in identifying and reporting clinically significant germline variants for hereditary breast and ovarian cancer. It creates individual patient reports based on genetic variants in BRCA1/BRCA2 and other associated genes following official genetic guidelines.