Abstract P1-05-13: The metastatic breast cancer project: Translational genomics through direct patient engagement
Authors: Painter CA , Anastasio E , Krevalin M , Kim D , Larken K , Lennon N , Frank E , Winer EP , Lander ES , Golub T 
Published: March 2017

Abstract
Background: The Metastatic Breast Cancer Project is a nationwide research initiative that directly engages patients through social media and advocacy groups and seeks to empower them to share their samples and clinical information to accelerate research. Because the vast majority of patients are treated in the community setting, we sought to determine the feasibility of remotely obtaining tumor and saliva samples as well as medical records from a large cohort of metastatic breast cancer (MBC) patients who receive their care in diverse settings around the country.
Methods: In collaboration with patients and advocacy groups, we developed a website to allow MBC patients across the U.S. to participate. Enrolled patients are sent a saliva kit and asked to mail back a saliva sample, which is used to extract germline DNA. We contact participants' medical providers and obtain medical records and part of their tumor biopsy. Whole exome and transcriptome sequencing is performed on tumor and germline samples. Clinically annotated genomic data are used to identify mechanisms of response and resistance to therapies. The database will be shared widely with researchers. Study updates and discoveries are shared with participants regularly.
Results: In the first 8 months, 2285 MBC patients from all 50 states enrolled. 2163 (95%) completed the 16-question survey about their cancer, treatments, and demographic information. 1232 completed the online consent form permitting acquisition and analysis of medical records, tumor tissue, and saliva samples. 556 saliva samples have been received. Initial medical record and tumor sample requests have been made for patients who have provided saliva samples. To date, we have obtained medical records from 102 patients (93% success rate) and tumor samples from 32 patients (77% success rate). Whole exome and transcriptome sequencing has been successfully completed on initial samples received and is ongoing for additional samples.
Conclusions: Partnering directly with patients through social media and advocacy groups enables rapid identification of thousands of patients willing to share tumors, saliva, and medical records to accelerate research. This approach allows for rapid identification of patients with rare phenotypes such as extraordinary responders, who have been challenging to identify with traditional approaches. Remote acquisition of medical records, saliva samples, and tumor tissue for patients located throughout the U.S. is feasible. Genomic analysis and medical record abstraction for these patients is underway. As data is generated, a clinically annotated database will be shared widely with the research community.
Citation Format: Painter CA, Anastasio E, Krevalin M, Kim D, Larken K, Lennon N, Frank E, Winer EP, Lander ES, Golub T. The metastatic breast cancer project: Translational genomics through direct patient engagement [abstract]. In: Proceedings of the 2016 San Antonio Breast Cancer Symposium; 2016 Dec 6-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2017;77(4 Suppl):Abstract nr P1-05-13.