The Cancer Gene Census (CGC) catalogues genes with mutations causally implicated in cancer and explains how dysfunction of these genes drives cancer.

 

New genes and annotations

With COSMIC v99, new high-quality genes have been added to the CGC ─ three to Tier 1 and three to Tier 2. The genes are HGF, RAD50, RRAS2, GSK3B, MUC6 and RAP1B.

More, cancer hallmark annotations have been added to each of the 8 existing CGC Tier 1 genes (SRC, SRSF2, STAT3, STAT5B, STK11, SUFU, TBX3, TNFRSF14). Cancer hallmark annotations summarize the effect of Tier 1 genes on the phenotypic traits shared by cancers.

 

Tier changes

The CGC has been compiled over 19 years and is periodically reviewed. This ensures that gene assignment to the Census reflects the latest evidence indicative of the strength of a causal association between a gene and one, or more, cancer types, and consistency in the application of the COSMIC inclusion criteria for CGC Tier 1 and Tier 2 assignment. Based on this, and following a recent review, TSHR has been re-assigned from Tier 1 of the Census to Tier 2, and its previous designation as an oncogene rescinded.

 

What else is new in COSMIC v99?

 

Want more details? Read the full COSMIC v99 release notes here.

 

 

Gentle reminder: make the switch to COSMIC's new, improved download files

v99 is the second release available through COSMIC's new, improved download files. These new files contain the same gold standard COSMIC data found in its current files, but presented in a more accessible and interoperable manner.

 

What’s new?
  1. A new, clear, consistent naming convention which all files follow. 
  2. Each project and product have been packaged with ReadMe files individually.
  3. Refined columns within the files.
  4. Improved IDs which are consistent across both download files and webpages.

 

Transitioning to COSMIC's new files

The COSMIC team wants to lead by example in encouraging data to be FAIR (Findable, Accessible, Interoperable and Reusable) compliant, and as part of this goal, they will be phasing out their current files for COSMIC v100 in May 2024. This means that the current download files will be retired and only the new style files will be available to download. 

 

Learn more about COSMIC's new files and transition support here.

 

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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

On-Demand Webinar
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.


LEARN MORE HERE

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.

Start your free trial today

Explore HSMD's features, content and applications with a free 5-day trial

REQUEST NOW


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


LEARN MORE HERE

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