concludes that a direct-to-patient (DTP) approach enabled prompt identification of an initial cohort of angiosarcoma (AS) patients willing to share tumors, saliva, blood and medical records.
These data, presented at the 2017 American Society of Clinical Oncology (ASCO 2017) annual meeting in Chicago by Corrie Painter, et al., serve as proof of principle that DTP genomics efforts can make cancer research for exceedingly rare cancers, which, to date, have been unreasonably understudied, more easily accessible.
AS is a cancer of the inner lining of blood vessels, and affects less than 2 in every 100,000 U.S. citizens. While it can occur in any bodily area, it most typically occurs in the skin, breast, liver, spleen, and deep tissue.
Researchers in the 3-week pilot study were able to obtain detailed clinical experiences and samples to perform genomic analysis by launching a nationwide study was launched in which patients were mailed a saliva and blood draw kit for germline and cell free (cf) DNA analysis in an effort to address the low incidence and accelerate large-scale research efforts with the hope of improving clinical outcomes.
After medical records were obtained and tumor samples were stored, whole exome sequencing was performed on tumor, cell-free DNA (cfDNA) and saliva samples. The study tested the possibility of registering geographically dispersed AS patients through a direct-to-patient (DTP) approach.
More than 100 willing-to-participate patients were found via social media, 90 of which were contacted in the initial day of outreach. 15 patients were enrolled in the study, and the average age of patients was 48 years, ranging from 23-71 years. Primary locations of AS among those in the primary cohort were breast (40%), cardiac (27%), scalp (13%), liver (6%), bladder (6%), and forehead (6%), and requests for medical records and tissue samples are underway.
The study has since been opened to all AS patients in the U.S.