Two expert-curated databases exclusively licensed through QIAGEN link sequence-level somatic mutation data to detailed molecular information about functional and clinical impacts, as well as implications for druggability and relevant clinical trials. The two databases, the Catalogue Of Somatic Mutations In Cancer (COSMIC) and the Human Somatic Mutation Database (HSMD), enable biopharmaceutical researchers to avoid pitfalls in early cancer drug discovery and development, confidently qualify candidate drug targets, and accelerate indication expansion and repurposing of existing cancer therapies.

In this blog, learn more about the high-level applications of using COSMIC and HSMD in cancer drug discovery and development pipelines.

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The Catalogue of Somatic Mutations in Cancer (COSMIC)

The Catalogue Of Somatic Mutations In Cancer (COSMIC) is the most detailed and comprehensive resource for exploring the effect of somatic mutations in human cancer. Developed and maintained by Wellcome Sanger Institute, the latest release, COSMIC v99 (December 2023), includes over 6 million coding mutations across 1.5 million tumor samples, curated from over 29,000 publications. In addition to coding mutations, COSMIC covers all the genetic mechanisms by which somatic mutations promote cancer, including non-coding mutations, gene fusions, copy-number variants and drug-resistance mutations.

COSMIC integrates somatic data from multiple sources published around the world and allows researchers to access and scrutinize information about somatic mutations and their impact in cancer. Over the past two decades, COSMIC, through predominantly manual curation workflows, has been diligently collecting, cleaning, and organizing genomic data and associated metadata from cancer studies published in scientific literature and various bioinformatics sources. This data is then translated into a standardized format, integrated, and made available to the research community through well-structured datasets and user-friendly data exploration websites and tools.

The Human Somatic Mutation Database (HSMD)

The Human Somatic Mutation Database (HSMD) is a relatively new somatic mutation database from QIAGEN (released in 2019) that combines over two decades of expert curation and data from scientific literature, on- and off-label therapies and clinical trials, and real-world clinical oncology cases. In the latest release, HSMD 3.0 (November 2023), the database contains manually curated, detailed molecular information on over 1.8 million somatic variants, with more than 430,000 observed in real clinical cases, as well as data from over 545,000 real-world clinical oncology cases.

Unique to HSMD is the availability of data from clinically observed variants. When a variant has been “clinically observed,” it means QIAGEN’s professional clinical interpretation service (previously N-of-One) has encountered this alteration in a real-world clinical case. For these variants, QIAGEN assesses the clinical and biological relevance and calculates the gene and variant prevalence across observed tumor types.

Easy to search with new content added weekly, HSMD enables researchers to explore key genes or mutations with driving properties or clinical relevance and search for associated treatment options, off-label therapies, resistance markers, and regional and/or disease-specific clinical trials.

Applications of COSMIC and HSMD in cancer drug discovery and development

While similar, COSMIC and HSMD differ in their applications for cancer drug discovery and development. As a result, biopharmaceutical researchers can use both databases to support different workflow stages.

How COSMIC supports exploratory research in cancer drug discovery

COSMIC is a valuable resource for cancer researchers and drug discovery efforts. Here are several ways in which the COSMIC database can be used to support exploratory research in cancer drug discovery:

How HSMD supports cancer drug clinical development and post-market research

HSMD is a valuable resource for biopharmaceutical researchers, facilitating the confident evaluation of cancer-related genetic variations by granting access to real-world data. Here are several ways in which HSMD supports cancer drug clinical development and post-market research.

Transform targets into precision cancer therapies

COSMIC and HSMD are two expert-curated databases licensed exclusively through QIAGEN that enable biopharmaceutical companies to improve the drug discovery process, develop more effective clinical trials, and enhance the treatment of rare cancers. To learn more about how your research team can use COSMIC and HSMD, visit our product webpage or click the button below for a free trial and personal consultation with our biopharmaceutical research experts.


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What to do when your genomics software platform needs a content boost

 

When it comes to NGS variant interpretation, content is king. But when your lab’s genomics software platform relies largely on data-sharing and crowdsourced information, how reliable are your reports?

Commercial genomics software platforms support molecular diagnostic workflows by providing unified interfaces connected to selected knowledge bases. These variant interpretation tools take a list of variants and return aggregated information retrieved from individual knowledge bases. This content is then used to filter and prioritize variants and ultimately derive a diagnosis and/or treatment recommendation. Therefore, a lab’s ability to accurately interpret a variant’s biological and clinical significance lies in the strength of its genomics software platform's knowledge base.

In recent years, crowdsourcing has become increasingly prominent as a means of supplementing the data obtained from more traditional sources, such as academic papers and drug labels. Around the world, initiatives and working groups, such as ClinVar, have developed centralized resources where users can submit variants reported in patient samples and assess their significance. Even commercial software companies, such as Sophia Genetics, have created “global data-sharing networks,” enabling their users to upload and share data with other users in the network.

While crowdsourcing is beneficial when it comes to solving challenging cases, there is one inherent issue: crowdsourced data lacks standardization. Clinical laboratories and medical institutions generate patients’ genetic variants through different sequencing protocols and NGS pipelines. This leads to genetic variants that are not interoperable. As a result, data contained in crowdsourced resources is not as reliable as data contained in a standardized, exert-curated knowledge base.

But there is an inherent dilemma: For many molecular diagnostic labs, purchasing a new variant interpretation platform is not option. The question then becomes, how can molecular diagnostic labs fill in the gaps of their crowdsourced data to ensure their variant interpretation is accurate and timely.

 

Supplement your genomics software platform with expert-curated databases

QIAGEN Digital Insights offers two proprietary databases that can supplement your lab’s current variant interpretation platform with trusted, expert-curated content.

 

Human Gene Mutation Database (HGMD) Professional

Human Gene Mutation Database (HGMD Professional)

HGMD Professional remains the largest, manually curated resource for finding disease-causing mutations. Founded and maintained by the Institute of Medical Genetics at Cardiff University, the database attempts to collate all known (published) gene lesions responsible for human inherited disease, giving you the best possible chance of reaching a diagnosis.

Unlike other competitors who offer little to no data curation or overload users with unhelpful literature and volumes of conflicting data, HGMD Professional combines electronic and human search procedures during data curation in order to provide high-quality information. For more than 30 years, a team of expert curators has consistently screened peer-reviewed biomedical literature in over 250 journals to update HGMD Professional.

A research team at Cardiff University updates HGMD Professional quarterly. As of November 2022, HGMD Professional contains over 377,510 detailed mutation reports and more than 11,500 expert-crafted variant summaries of disease-associated/functional polymorphisms. HGMD Professional adds over 45,000 mutation reports per year.

How can HGMD Professional boost your content?

 

Using the public version of HGMD? Your lab does not have access to over 3 years of expert-curated data contained in HGMD Professional. See what else you’re missing here.

 

Human Somatic Mutation Database (HSMD)

Human Somatic Mutation Database

The “somatic version” of HGMD Professional, the Human Somatic Mutation Database (HSMD) is a new somatic database developed by QIAGEN that contains extensive genomic content relevant to solid tumors and hematological malignancies. Available as a web-based application, HSMD contains content from over 4.2 million mutations from two sources. Content is curated from over 420,000 real-world clinical oncology cases and the QIAGEN Knowledge Base.

HSMD provides gene-level, alteration-level, and disease-level information, including clinically observed gene and variant frequencies across diseases. Clinically relevant content in HSMD is placed into the perspective of clinical treatments, providing the links between biomarkers and targeted therapies, and is backed up with relevant scientific and clinical evidence. Users can easily search and explore mutational characteristics across genes, synthesize key findings from drug labels, clinical trials, and professional guidelines, and receive detailed annotations for each observed variant. In addition, users can interrogate a bibliography of over 150,000 variant-specific PubMed articles. HSMD also provides access to individual summaries of alteration-type specific information written by PhD scientists.

As QIAGEN Clinical Insights, QIAGEN’s clinical decision support platform for variant analysis, interpretation, and reporting, continues to be adopted by a growing number of molecular diagnostic labs around the world (The platform recently surpassed interpreting over 3 million NGS patient cases worldwide), the data contained in HSMD is increasing at a compounding rate. HSMD adds a minimum of 70,000 new clinical oncology cases each year.

How can HSMD boost your content?

 

Learn how a national cancer research center in Serbia is using HSMD to confidently identify meaningful mutations in somatic tumor testing here.

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Does your lab’s genomics software platform need a content boost?

Try HGMD Professional and HSMD for free

Explore, search, and test HGMD Professional and HSMD for free. To demonstrate the quality, flexibility, and simplicity of HSMD, QIAGEN Digital Insights offers complimentary, 5-day trials of both expert-curated database. Start your free trial today.

→ Request your free trial of HGMD Professional here.

→ Request your free trial of HSMD here.

Interpretation of genomic variants in tumor samples still presents a challenge in clinical settings. Variant interpretation is fragmented across disparate databases, and aggregation of information from these requires building extensive infrastructure. The Human Somatic Mutation Database (HSMD) is an easy-to-use, somatic database from QIAGEN that contains extensive genomic content relevant to solid tumors and hematological malignancies. Pulling content from over 500,000 real-world clinical oncology cases and 40+ databases contained in the QIAGEN Knowledge Base, HSMD gives genetic counselors access to over 1.7 million somatic variants characterized in over 1,400 cancer-related genes. To demonstrate the efficiency and clinical utility of HSMD, we present a use-case for using the database to assess the biological and clinical relevance of anaplastic lymphoma kinase (ALK) gene.

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The ALK gene

About 3-7% of patients with non-small cell lung cancer (NSCLC) have rearrangements in the ALK gene. These genetic alterations are relatively rare compared with epidermal growth factor receptor (EGFR) or KRAS mutations (1). ALK rearrangements are often seen in people who don’t smoke and who are younger. These oncogenic mutations lead to the constitutive activation of the ALK tyrosine kinase domain, a protein that causes cancer cells to grow and spread. To date, several therapies have been developed to target ALK gene changes, known as ALK inhibitors. These include, Crizotinib (Xalkori), Ceritinib (Zykadia), Alectinib (Alecensa), Brigatinib (Alunbrig), and Lorlatinib (Lorbrena).

Therefore, clinical diagnostic labs that perform somatic genomic testing need to be able to define the precise biological function and clinical actionability of ALK mutations. However, given their relatively rarity, ALK mutations require thorough assessment and curation to accurately interpret their clinical significance and recommend effective treatment strategies.

Using HSMD to assess the biological and clinical significance of ALK mutations

HSMD is a web-based database that provides deep insight into small variants, such as SNVs, indels, frameshifts, fusions and copy number variants that have been clinically observed or curated from scientific literature to help users better understand and define precise function and actionability. Unlike other somatic databases, such as ClinVar and Genomenon that use crowdsourcing or human-absent machine learning, HSMD uses augmented molecular intelligence—the combination of machine learning and human curation—to curate each somatic variant. The result is higher quality data that is up-to-date, consistent, comprehensive, and accurate. This focus on human effort, review and certification is critical. It means clinical diagnostic labs can trust the data in HSMD and proceed with confidence to interpret and report somatic tests.

Here, we present a step-by-step use-case of how your clinical diagnostic lab can use HSMD to search and explore mutational characteristics across the ALK gene, synthesize key findings from drug labels, clinical trials, and professional guidelines, and receive detailed annotations for each observed variant.

Searching for the ALK gene in HSMD

HSMD is a web-based application. When you open the interface, the homepage provides five search options. Users can search by Gene, Alteration, Disease, Drug, or Clinical Trial (Figure 1).


Human Somatic Mutation Database (HSMD)
Figure 1. The homepage of HSMD.

Search by gene: When you search by gene in HSMD, you access the total number of genes listed in the database. You can then further narrow your search by viewing data from the QIAGEN Knowledge Base or focusing exclusively on clinically observed variants.

When you search for ALK p.F1174L in HSMD, you receive a description of the alteration with links to relevant literature, external links to the alteration in ClinVar, dbSNP, and OncoKB, and a summary of alteration details, including chromosome position, alteration type, functional impact, and population frequency (Figure 2).


Figure 2. Gene description of ALK in HSMD

View observed clinical case distribution of ALK in HSMD

Once you narrow your focus to searching for only clinically observed variants, you receive a table and distribution graph that shows the number of observed clinical cases for a particular gene across all cancer types.

Continuing the example using ALK p.F1174L, you can clearly see the alteration’s distribution by disease through a table and graph. As you scroll down, you receive information on it's biological impact, as well as the gene’s frequency in different populations (Figure 3). You can also view the biological impact and allele frequency (Figure 4).

Click to enlarge the images.


Figure 3. Observed clinical case distribution of ALK p.F1174L in HSMD.

Figure 4. Allele frequency and biochemical impact of ALK p.F1174L.

View relevant drugs, clinical trials and bibliography for ALK in HSMD

HSMD enables you to view relevant drugs and clinical trials for a ALK p.F1174L. You receive a list of drugs approved for use with ALK p.F1174L (Figure 5a), as well as recruiting clinical trials for that alteration (Figure 5b). In addition, HSMD provides an extensive bibliography for ALK p.F1174L, with clickable links to each article (Figure 6).

Click to enlarge the images.


Figure 5a. Relevant drugs targeting ALK p.F1174L in HSMD.

Figure 5b. Clinical trials relevant to ALK p.F1174L in HSMD

Figure 6. Bibliography for ALK p.F1174L in HSMD

Simplify your somatic variant assessment

As demonstrated by the use-case, incorporating HSMD into your somatic variant interpretation workflow enables you to easily search and explore mutational characteristics across genes, synthesize key findings from drug labels, clinical trials, and professional guidelines, and receive detailed annotations for each observed variant. With HSMD, you can efficiently ask and answer the following key questions:

Want to try HSMD for free?

HSMD is a one-stop shop for all the content a clinical diagnostic lab needs to assess the biological relevance and clinical actionable of somatic variants. QIAGEN Digital Insights offers free, no-obligation trials of HSMD. You can see what kind of content the database offers, explore the search functionality, and determine if this database can save you time and money.

Take the first step. Request a free trial of HSMD here.

Want to learn more?
Explore HSMD resources, videos, and use-cases here.

Need a FASTQ to final report solution for oncology NGS testing?

QCI Interpret for Oncology is an end-to-end solution for NGS data analysis, interpretation, and reporting that helps clinical diagnostic labs scale the process of FASTQ to final report.


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QCI Interpret provides a comprehensive and flexible reporting system that automatically incorporates significant variants, key findings, annotation sources, and interpretation summaries. Reports can be fully customized to meet your lab’s brand and formatting requirements. This sample report is for a pan-cancer multimodal panel and shows results with TMB and MSI biomarkers and a KRAS alteration detected.


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A new balancing act: How do clinical cancer geneticists and genetic counselors manage more patients with less time?

The COVID-19 pandemic marked a turning point across the healthcare landscape. And like many professions, clincal cancer genetics is shifting in unexpected ways.

From changes to delivery models and the genetic testing landscape, to emerging new technologies and greater access, clinical genetics is at an inflection point. The demand for services is growing, patient cases are becoming more complex, and professional burnout is at an all-time high.


HSMD webinar for clinical geneticists

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How to simplify somatic NGS analysis and reduce literature review time by 90%


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What’s the common denominator?

There’s a catalyzing culprit to these three challenges. Time. Across the industry, clinical geneticists and genetic counselors report time as the biggest bottleneck in their ability to provide services efficiently.

In a survey of cancer genetic counselors, 92% report not having enough time to properly prepare for new patient meetings.

This statistic gains greater impact when considering these five cause-and-effects:

Demand for clinical cancer genetics is soaring.

According to the U.S. Bureau of Labor Statistics, the field is projected to grow by 27% between 2018 and 2028, compared to just 5% across all professions.

Rapid growth in demand for clinical cancer genetics professionals has led to a workforce shortage.

There is approximately 1 clinical cancer genetics professional per 300,000 individuals in the United States (Pal et a. (2013)).

A workforce shortage places greater caseload pressure on genetic counselors.

According to the National Society of Genetic Counselors (NSGC) Professional Status Survey, 62% of clinical genetic counselors report an increase in patient volume in just two years (Patel et al. (2018)). 

Case complexity is increasing.

A survey found that genetic counselors spend an average of 4-6 hours per patient working on case-prep, follow-up, and administrative tasks (Attard et al. (2018)).

Clinical geneticists are overwhelmed.

Up to three-quarters of clinical geneticists are found to be at moderate to high risk for burnout and compassion fatigue (Injeyan et al. 2011; Lee et al. 2015; Udipi et al. 2008).

Pinpointing the problem

Clinical geneticists and genetic counselors are experiencing compounded challenges. However, a closer look at a typical clinical cancer genetics workflow illuminates the main problem.

In a 2018 survey, 17 genetic counselors indicate that 64% of their time is spent on patient-related activities (PRA) versus face-to-face patient interaction. This equates to 3 hours of PRA time per patient. And, the most time-consuming part of the PRA was writing letters, which involves summarizing the genetic test results, providing detailed information, and recommending next steps—which all must be cited and supported by evidence.

Similarly, Heald et al. found that the most time-intensive part of a clinical geneticist’s and genetic counselor's workflow is literature review and exploring testing options.  And, a recent study by Williams et al. found that clinical cancer genetics professionals spend an average of 420 minutes (7 hours) reviewing all available medical literature before presenting to physicians and their patients.

Clinical cancer geneticists and genetic counselors need a way to shorten the literature review process of their workflow without jeopardizing patient outcomes. They need a workflow that allows them to spend more time interacting with patients and less time behind a computer screen. They need a workflow that supports an increase in billing and reimbursement activities and decreases fatigue and burnout.

While some studies recommend improving efficiency by hiring a clinical genetics assistant—a “solution” that incurs substantial annual resources and costs—there’s an easier way forward.

A simple solution

The Human Somatic Mutation Database (HSMD) is the most time-efficient and cost-effective way cancer genetic counselors can scale caseload volume.

An easy-to-use, somatic database from QIAGEN, HSMD contains extensive genomic content relevant to solid tumors and hematological malignancies. Pulling content from over 419,000 real-world clinical oncology cases and 40+ databases contained in the QIAGEN Knowledge Base, HSMD gives genetic counselors access to over 1.5 million somatic variants characterized in over 1,400 cancer-related genes.

HSMD vs. HGMD
For genetic counselors and clinical geneticists who need access to both hereditary and somatic cases, you can combine content from HSMD and the Human Genetic Mutation Database (HGMD) Professional for full coverage.


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HSMD allows you to search by:
With this content, you gain insights into:
And you can easily ask the questions:

By incorporating HSMD into the workflow, clinical geneticists and genetic counselors can easily search and explore mutational characteristics across genes, synthesize key findings from drug labels, clinical trials, and professional guidelines, and receive detailed annotations for each observed variant.

Let’s talk about compassion fatigue

Part of the reason clinical cancer genetics professionals are so willing to overwork is that they are uniformly compassionate people. You care deeply about your patients and want to do your best to help them through difficult times. As a result, these professionals are at high-risk for compassion fatigue. 

A study published in Nature found that the primary reason why genetic counselors experience compassion fatigue is because you have to sometimes deliver “bad” news. Bad news could be a life-altering cancer diagnosis or the fact that there is not an available treatment for a specific patient.

When you incorporate HSMD into your workflow, you can be confident that you have considered every article and every therapeutic option that is known for a specific gene or variant. This gives you assurance that you are doing everything in your power to help your patients make informed decisions.

Try HSMD for free

If you are a cancer clinical geneticist or genetic counselor that is experiencing an increase in caseload volume, under mounting pressure to meet with more patients, and feeling the stress of burnout and compassion fatigue, consider adopting HSMD into your workflow. QIAGEN Digital Insights offers free, no-obligation trials of the somatic mutation database. You can see what kind of content HSMD offers, explore the search functionality, and determine if this database can save you time and money.

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Want to learn more about how HSMD compares to HGMD Professional? Check out our HGMD vs. HSMD webpage.


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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.

The latest version of the Human Somatic Mutation Database (HSMD) is now available. HSMD 2.0 includes over 140,000 new alterations, improved data visualization, and pipeline integration support.

We are pleased to announce the release of the latest version of the Human Somatic Mutation Database, a new somatic database developed by QIAGEN that contains extensive genomic content relevant to solid tumors and hematological malignancies. Expanding on the database’s current content and capabilities, HSMD 2.0 now contains data on structural variants, improved data visualization, and tools to enable seamless integration of the database into in-house workflows.

 

HSMD 2.0 release highlights

View the full list of new content updates here.

 

About HSMD

Combining over 2 decades of expert curation and data from real-world clinical oncology cases, HSMD is a new somatic database from QIAGEN that serves as a single, trusted data source for clinical labs to validate, assess, and better understand the clinical significance of detected variants.

HSMD aggregates 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, to eliminate the need to manually collect inform-ation across knowledge bases and provide deep genomic insight into the molecular characterizations of your patient’s tumor.

Easy to search with new content added weekly, HSMD enables users to explore key genes or mutations with driving properties or clinical relevance, and lets users search for associated treatment options, off-label therapies, resistance markers, and regional and/or disease-specific clinical trials.

Learn more about HSMD here.

 


 

Live Panel: September 30

Experts in somatic NGS testing and clinical informatics discuss how to mitigate variability in somatic variant interpretation

As NGS is increasingly used in precision oncology, there is an industry-wide issue of standardization: a high degree of variability in variant interpretation currently exists across laboratories. On September 30, in a live panel discussion, experts in NGS testing and clinical informatics explore the issues surrounding  standardization and how to overcome them with real-world applications.

⇒ Learn more and register here.

Experts forecast this year’s cancer research advances

In cancer research, the focus has shifted to precision medicine and much progress has been made developing therapies that have improved and prolonged the lives of patients with advanced cancer. While we have made great strides, there is still an infinite amount of information to learn. In this article, experts shed light on 3 trends in cancer research that will have major implications this year and beyond.

 

Trend 1: A record-breaking 2 million new cases of cancer are expected to be diagnosed this year.

In 2022, the annual report from the American Cancer Society (ACS) estimates that 1,918,030 Americans will be diagnosed with cancer, equivalent to 5,250 new cases being detected every day. This is up from approximately 1.8 million new cases that likely occurred in 2021.

Both figures—for cases and deaths—are the highest estimates made by the ACS since 2007.

Health experts suggest that people missing cancer screenings and doctor's appointments due to the COVID-19 pandemic may cause cancer rates to rise in the coming years. In fact, 44% of countries around the world reported an increase in service backlogs for cancer screening in the second half 2021.

What does this mean for cancer researchers? First and foremost, there will be more patients undergoing genetic testing for cancer risk and diagnosis this year than ever before. To keep up with demand, labs analyzing and interpreting these tests will need to develop new workflows to efficiently handle a higher-throughput of samples.

Second, as more patients undergo genetic testing, the number of detected variants will continue to grow, challenging researchers to confidently identify meaningful mutations that could influence or improve decisions in experimental design, at point-of-care, or in drug development.

 

Trend 2: The vast majority of genes have been tied to cancer—and that can complicate research.

In a recent paper published in Trends in Genetics, researchers at the University of Liverpool found that of the 17,371 human genes studied and documented in PubMed, approximately 90% have some connection to cancer.

The results may indicate a trend that is complicating science’s ability to tease out which genes are underpinning true drivers of cancer and which are just passengers. For researchers, the main challenge is that if you’re trying to interpret results or identify new drug targets in the context of cancer, you may have too many genes associated with it.

If every gene can be associated with cancer, then figuring out which cancer-related genes are driving different types of cancer and identifying the best biomarkers becomes challenging. This trend underscores the need for high-quality somatic databases that can provide gene-level, alteration-level, and disease-level information including clinically observed gene and variant frequencies across diseases.

 

Trend 3: Augmented Molecular Intelligence (AMI) will become the gold-standard method of variant curation.

The combination of human expertise and artificial intelligence, Augmented Molecular Intelligence is an approach to variant curation that uses machines to rapidly index millions of articles and human curators to review and certify the accuracy, relevancy, and consistency of the information pulled.

The “gold standard” of variant curation, platforms, software and databases that offer AMI can gather all types of data (both structured and unstructured) from many sources, across disparate and siloed systems. Then a team of certified human curators examine the data to ensure there are no errors or inconsistencies in the data collected.

The result? Research and clinical labs that use platforms, software, and databases powered by AMI are better informed with deeper insight that can be trusted.

 

The “industry’s best kept secret”

Across oncology applications, from research to molecular testing and pharmaceutical development, the ability to identify potentially actionable genetic alterations and exploit the molecular vulnerabilities of cancer is becoming increasingly difficult.

The Human Somatic Mutation Database (HSMD) is a new somatic database developed by QIAGEN that contains extensive genomic content relevant to solid tumors and hematological malignancies. The resource contains over 3.7 million curated alteration findings and focuses on providing deep insight into small variants, such as SNVs, indels, and frameshifts, that have been clinically observed or curated from scientific literature to help users better understand and define precise function and actionability.

Powered by Augmented Molecular Intelligence, HSMD contains content from two sources: expert-curated content from the QIAGEN Knowledge Base (QKB) and data from over 300,000 real-world clinical oncology cases sourced from our professional clinical interpretation services. Users can easily search and explore mutational characteristics across genes, synthesize key findings from drug labels, clinical trials, and professional guidelines, and receive detailed annotations for each observed variant.

 

Try HSMD for free

Explore, search, and test HSMD for free. To demonstrate the quality, flexibility, and simplicity of HSMD, QIAGEN Digital Insights offers complimentary, 5-day trials of the new somatic database.

You will gain access to:

Learn more about HSMD and request your trial here.

 

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