Abstract 6084: The Osteosarcoma and Leiomyosarcoma Count Me In Projects of the Cancer Moonshot funded PE-CGS Network directly engage patient participants in genomics research
Authors: Janeway Katherine A. , George Suzanne , Painter Corrie , Cibulskis Carrie , Cusher Taylor , Doucette Jordan , Anastasio Elana , Zola Benjamin , Mathews Ashley , Ceca Evelina , Smart Maeve , Thomas Beena , Hornick Jason , Church Alanna , Lazo De La Vega Lorena , Stopfer Jill , Benich Sidney , Sukharevsky Ellen , Winnicki Sarah , Reardon Brendan , Crompton Brian , Merriam Priscilla , Marino-Enriquez Adrian , Diehl Diane , VanAllen Eliezer , Garber Judy , Getz Gad , Gabriel Stacey , Rebbeck Timothy , Mack Jennifer , Wagle Nikhil 
Published: April 2023

Abstract
Osteosarcoma (OS) and Leiomyosarcoma (LMS) are sarcomas with complex genomes for which there has been limited progress in identifying new treatments and improving outcomes. Slow progress in OS and LMS is partially due to insufficient characterization of the genomic landscape. Generating large genomic datasets in OS and LMS is challenging because of the rarity of these sarcomas and recruitment barriers such as care fragmentation between institutions and specialties. The OS and LMS Project research studies aim to: 1) establish a network of engaged pediatric and adult participants with OS and LMS who will co-create a shared database of clinical, genomic, molecular, and patient reported data to enable research; 2) define the clinicogenomic landscape of OS and LMS; and 3) optimize the approach to direct patient engagement in cancer research. Count Me In, a research initiative with prior success in angiosarcoma, working with patients and advocates created websites (OSProject.org and LMSProject.org) where patients register and consent to participation. Within two months of launching, 233 patients age 6-79 from 149 Institutions have consented. Blood and saliva are collected from consented participants, tumor samples are obtained from pathology departments and medical records are requested from treating hospitals. WES and WGS of tumor and normal, and RNASeq of tumor is performed. ctDNA is obtained and sequenced. Results are shared with patient, advocacy, physician and research communities in several ways. Individual participants receive a shared learning report describing the somatic variants identified in their tumor from paired tumor-normal WES and are offered genetic counseling and clinical germline testing. Registered participants receive updates via email and Project websites. There are regular pre-publication data releases to the genomic data commons and to cBioPortal. A physician engagement committee meets regularly to discuss clinical insights and conundrums from shared learning reports and germline testing. Patient accrual over the next 3 years is anticipated to result in sequencing of 750 tumor-normal pairs and 500 ctDNA samples.
Citation Format: Katherine A. Janeway, Suzanne George, Corrie Painter, Carrie Cibulskis, Taylor Cusher, Jordan Doucette, Elana Anastasio, Benjamin Zola, Ashley Mathews, Evelina Ceca, Maeve Smart, Beena Thomas, Jason Hornick, Alanna Church, Lorena Lazo De La Vega, Jill Stopfer, Sidney Benich, Ellen Sukharevsky, Sarah Winnicki, Brendan Reardon, Brian Crompton, Priscilla Merriam, Adrian Marino-Enriquez, Diane Diehl, Eliezer VanAllen, Judy Garber, Gad Getz, Stacey Gabriel, Timothy Rebbeck, Jennifer Mack, Nikhil Wagle. The Osteosarcoma and Leiomyosarcoma Count Me In Projects of the Cancer Moonshot funded PE-CGS Network directly engage patient participants in genomics research [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2023; Part 1 (Regular and Invited Abstracts); 2023 Apr 14-19; Orlando, FL. Philadelphia (PA): AACR; Cancer Res 2023;83(7_Suppl):Abstract nr 6084.