5 Ways HSMD Helps Researchers in the Fight Against Cancer


QIAGEN Digital Insights

5 Ways HSMD Helps Researchers in the Fight Against Cancer

In oncology research, identifying potentially actionable gene alterations and exploiting cancer’s molecular vulnerabilities is becoming increasingly difficult. Due to the sporadic nature of somatic cancers, the number of variants detected is rapidly rising.

Clinical research labs are tasked with confidently identifying meaningful mutations that could influence or improve decisions at the point of care. To do this, they need ready-access to trusted data to validate biomarkers and better assess their biological and clinical relevance. And this is precisely what the Human Somatic Mutation Database (HSMD) provides.


HSMD can be used to:

  1. Gain insights from real-world data and two decades of expert curation: HSMD’s oncology dataset combines manually-curated content from the QIAGEN Knowledge Base─the industry’s largest collection of biological and clinical findings─with data from over 419,000 real-world clinical oncology cases that have been analyzed and interpreted by QIAGEN’s professional clinical interpretation service. With HSMD, researchers don’t need to collect information manually across different knowledge bases and resources.
  2. Quickly classify VUS’ and controversial variants: Labs sometimes risk of over-interpreting variants of unknown significance (VUS), which could lead to unnecessary or potentially harmful treatments. When you encounter a variant with limited information, you can use HSMD to look for observed clinical case distribution, biochemical impact, functional impact, and actionability.
  3. Analyze complex genetic reports: Molecular tissue profiling often generates difficult-to-interpret genomic information─making the resulting reports either too complex or lacking in data on the clinical actionability of detected variants. HSMD can be used to rapidly drill down to variant-level information, derive actionable data from complex reports and evaluate clinical impact.
  4. Stay up to date: HSMD’s content is updated weekly, so labs can ensure that variant interpretation reports are based on the most relevant and timely evidence. Over 5,000 manually curated alterations are added to it each month.
  5. Establish an in-house bioinformatics pipeline: HSMD can be used to develop an in-house pipeline to help manual variant curation. Using HSMD, labs can annotate a single variant in under 15 minutes. Ordinarily, manually curating one variant can take an experienced curator 3-4 hours to complete. Depending on the size of the panel, a single VCF file can contain thousands of variants to annotate. This requires the lab to search for available data online and query population databases and gene-and/or locus-specific databases to perform in silico analysis, evaluate the literature, analyze functional studies, and find clinical trials and relevant therapies.


HSMD 2.0 comes with over 140,000 new alterations, improved data visualization and new structural variants. The dataset now contains over 419,000 clinical oncology cases and over 1.5 million mutations associated with over 4.2 million relationships from PubMed, drug labels, clinical trials, clinical guidelines and public databases such as gnomAD and HGMD.

Read the statistics sheet.