Efficiently and precisely annotating genetic variants in a clinical context – with Molecular Health Guide®

How diagnostic and pathological labs can benefit from software-aided interpretations in the field of personalized cancer treatment

Clinical annotation as the standard in personalized cancer treatment — a challenge in oncological pathology

Precision medicine is making great advances, especially in the field of oncology. Even though there are many variant-analyses panels on the market, clinically annotating and interpreting these variants remains a difficult topic for physicians.

Big data for laboratories – using MH Guide to systematically and safely perform knowledge-based clinical annotations

MH Guide is the first certified medical device in Europe in this diagnostic field to create a context between test findings and the relevant biomedical knowledge from current research. Furthermore, it takes the respective patient’s clinical parameters into account and summarizes findings in a report that provides the maximal information possible. This enables the treating physician to prioritize therapeutic options for the given tumor profile as well as suggest appropriate clinical trials.

MH Guide: the step-by-step procedure for laboratories


The consultation between the physician and patient
After making arrangements with the patient, the treating physician commissions an MH Guide analysis.

The physician commissions your lab with the MH Guide analysis:
The treating physician contacts your MH Guide-trained lab and discusses the next steps in preparing the genetic analysis.



Your lab conducts the genetic examination of the tissue samples (e.g. panel or whole exome sequencing) and analyzes the data with MH Guide.

With the help of MH Guide, an MH Guide-certified physician at your laboratory generates a medical report based on the genetic analysis. That doctor sends the findings to the treating physician.



The consultation between the physician and patient:
The treating physician discusses the findings with the patient and suggests therapeutic options or potential clinical trials that might be appropriate.

MH Guide highlights

MH Guide includes a validated process for analyzing NGS data to provide comprehensive and fast evidence-based results. This helps your lab increase the quality of the interpreted findings and expedite the diagnosis so that now and in the future, you will be prepared for all of the demands that will arise as precision medicine makes its way into oncology.

Certified and secure

MH Guide is a medical device and registered as an in-vitro diagnostic (IVD) tool in Europe; it has received CE certification after successful passing conformity assessment procedures. It complies with European guidelines (CE) and meets legal and regulatory standards in terms of validation and data security (CAP, CLIA, HIPAA, ISO). You can read more about certification and data security here

Extensive annotation with quality-controlled data

MH Guide MH Guide links patient-specific molecular data to internationally published biomedical knowledge. The information MH Guide uses for clinical data interpretation is based on the strictest quality criteria and reviewed by experts. These sources are completely transparent and comprehensible, creating a reliable foundation for personalized treatment decisions.

Smart quality-assured analysis pipeline

To identify genomic variants more precisely, we work with a quality-assured analytical pipeline and take into account population-specific reference genomes to greatly improve variant calling.


MH Guide significantly supports the clinical interpretation of data and presents the user with a structured and easily comprehensible “stoplight” system. Users can be flexible in generating their report.

Scalable and fast

Avoid bottlenecks in analysis! The key prerequisite to clinically interpreting genome-wide diagnostic data is automated data retrieval, filtering and integrating all of the available relevant knowledge about genetic variants.


MH Guide can process NGS data in a wide variety of formats (including both BAM and FASTQ files as well as VCF and XML formats). Your analytical findings are sent in a report as a PDF or a patient-specific XML file for further electronic processing. The MH Guide user interface allows you to generate high-quality treatment recommendations in an uncomplicated fashion.

Easy to use and always up to date

Molecular Health offers browser-based applications as software-as-a-service and handles data storage for you. MH Guide does not require any complicated local installation, and you will not need to deal with operations and maintenance.
The programs, methods and algorithms needed for MH Guide are constantly being updated, tested and validated. MH Guide is optimized on an ongoing basis with at least two software updates per year and continuous data updates.

Training and support

To make using MH Guide as easy as possible for you, you will receive training and support in how to apply it.

How your lab can benefit from MH Guide

You can handle larger volumes of sequencing data more precisely and extensively with the help of our genomic analysis pipeline

You will generate quality-assured clinical variant annotations more quickly

You can optimize therapeutic options for treating physicians and their patients, thus creating an indisputable added value for your lab and your customers

You will become part of the future market of personalized medicine

Become a partner laboratory now!

Does our solution appeal to you? Would you like to become an MH partner? We look forward to hearing from you.

Our lab partners

Karolinska Institutet