Chondrosarcoma Foundation Efforts to Promote Genomic Sequencing Tests

Genomic sequencing is a promising tool for expanding the treatment options for chondrosarcoma patients. Genomic sequencing technologies are capable of characterizing known and novel clinically relevant biomarkers, like IDH1/2, and is becoming a useful tool for drug development, facilitating drug target discovery, clinical trial patient selection, and clinical correlate analyses to improve the quality and longevity of life for chondrosarcoma patients. Every cancer has a unique genome, and understanding the genetic characteristics of chondrosarcoma can help fight it at its origin. From a research perspective, the new frontier of genomic sequencing and personalized medicine shows promise for more effective treatments and, hopefully, will contribute to finding a cure.

Consequently, while genomic profiling is an invaluable research tool, its impact on individual patients’ clinical course is less certain. We want to encourage chondrosarcoma patients and family members to discuss the value of genetic testing with their treating oncologist / physician and in consultation determine if genomic testing is an option for them.

There are several companies that provide genomic testing and there are some Sarcoma Centers that have their own laboratories and provide their own genetic tests. The Chondrosarcoma Foundation does not endorse one laboratory or another. However, in the interest to enhance Genomic Sequencing as a viable research tool for chondrosarcoma and create a simple path for chondrosarcoma patients to obtain a genomic sequencing test we have established a collaborative arrangement with BostonGene. We are currently working with chondrosarcoma specialists to develop clinical trials exclusively for chondrosarcoma with specific biomarkers and BostonGene has agreed to be part of the process.

BostonGene is a Waltham, MA-based company that provides genomic sequencing. Like other laboratories, they provide comprehensive molecular and immune profiling on biopsy tissue samples and provide a comprehensive report that will include immune microenvironment properties, actionable mutations, biomarkers of response to diverse therapies, recommended therapies, germline findings, tumor composition, clone and subclone data, and clinical trial matching. Additionally, should research unveil additional biomarkers with potential benefits in treating chondrosarcoma, BostonGene will incorporate them into their analysis. Consolidating chondrosarcoma tissue samples and testing results in a single location will bolster research and clinical trials. These developments hold significant potential for advancing the future treatment of chondrosarcoma.

Participants in the Chondrosarcoma Patient Registry

For our natural history study, we want to encourage all participants registered in the Chondrosarcoma Patient Registry to discuss the relevance, benefits, and risks of genomic testing with your oncologists. After consulting with your oncologist and determining it would be in your best interest to obtain a genomic sequencing test, you or your oncologist can choose to contact a laboratory that provides genomic testing or contact the Chondrosarcoma Foundation (info) for an information packet from BostonGene. If you obtain a genomic sequencing test, we ask that you please upload the results of the test into your own secure Medical Record portion of the patient registry. At this point we only have six participants who uploaded their genomic sequencing test into the Chondrosarcoma Patient Registry. We have a lot of work to do to get more participation and to obtain the benefit genomic tests can offer in developing clinical trials, finding effective medications, vaccines and cures.

The Cost of Obtaining a Genetic Test

The cost of medical care can be a burden for patients, and we want to ensure that financial constraints do not prevent you from receiving the necessary tests to guide treatment selection. Most laboratories file insurance claims and if needed, can offer financial assistance to cover the costs of testing and offer financial aid to decrease out-of-pocket expenses. Financial assistance awards will be determined before testing and patients can choose to proceed based on the quote they receive. If you and your oncologist agree to proceed with genomic testing and you want to apply for financial assistance from BostonGene, you can apply online. Please complete the form and check all applicable special circumstances, as this helps with coverage.

If you have any questions, please reach out to Jeff Kramer at info