Dataset Information

Overcoming Barriers to Tumor Genomic Profiling through Direct-to-Patient Outreach.

ABSTRACT:

Purpose

To overcome barriers to genomic testing for patients with rare cancers, we initiated a program to offer free clinical tumor genomic testing worldwide to patients with select rare cancer subtypes.

Experimental design

Patients were recruited through social media outreach and engagement with disease-specific advocacy groups, with a focus on patients with histiocytosis, germ cell tumors (GCT), and pediatric cancers. Tumors were analyzed using the MSK-IMPACT next-generation sequencing assay with the return of results to patients and their local physicians. Whole-exome recapture was performed for female patients with GCTs to define the genomic landscape of this rare cancer subtype.

Results

A total of 333 patients were enrolled, and tumor tissue was received for 288 (86.4%), with 250 (86.8%) having tumor DNA of sufficient quality for MSK-IMPACT testing. Eighteen patients with histiocytosis have received genomically guided therapy to date, of whom 17 (94%) have had clinical benefit with a mean treatment duration of 21.7 months (range, 6-40+). Whole-exome sequencing of ovarian GCTs identified a subset with haploid genotypes, a phenotype rarely observed in other cancer types. Actionable genomic alterations were rare in ovarian GCT (28%); however, 2 patients with ovarian GCTs with squamous transformation had high tumor mutational burden, one of whom had a complete response to pembrolizumab.

Conclusions

Direct-to-patient outreach can facilitate the assembly of cohorts of rare cancers of sufficient size to define their genomic landscape. By profiling tumors in a clinical laboratory, results could be reported to patients and their local physicians to guide treatment. See related commentary by Desai and Subbiah, p. 2339.

SUBMITTER: Doe-Tetteh SA

PROVIDER: S-EPMC10330105 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature

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Publications

Overcoming Barriers to Tumor Genomic Profiling through Direct-to-Patient Outreach.

Doe-Tetteh Seyram A SA Camp Sabrina Y SY Reales Dalicia D Crowdis Jett J Noronha Anne Marie AM Wolff Bernadette B Alano Tina T Galle Jesse J Selcuklu S Duygu SD Viale Agnes A Socci Nicholas D ND Liu Ying L YL Tew William P WP Aghajanian Carol C Ladanyi Marc M He Meng Xiao MX AlDubayan Saud H SH Mazor Roei David RD Shpilberg Ofer O Hershkovitz-Rokah Oshrat O Riancho Jose A JA Hernandez Jose L JL Gonzalez-Vela M Carmen MC Buthorn Justin J JJ Wilson Manda M Webber Amy E AE Yabe Mariko M Petrova-Drus Kseniya K Rosenblum Marc M Durham Benjamin H BH Abdel-Wahab Omar O Berger Michael F MF Donoghue Mark T A MTA Kung Andrew L AL Glade Bender Julia J Shukla Neerav N NN Funt Samuel A SA Dogan Ahmet A Soslow Robert A RA Al-Ahmadie Hikmat H Feldman Darren R DR Van Allen Eliezer M EM Diamond Eli L EL Solit David B DB

Clinical cancer research : an official journal of the American Association for Cancer Research 20230701 13

<h4>Purpose</h4>To overcome barriers to genomic testing for patients with rare cancers, we initiated a program to offer free clinical tumor genomic testing worldwide to patients with select rare cancer subtypes.<h4>Experimental design</h4>Patients were recruited through social media outreach and engagement with disease-specific advocacy groups, with a focus on patients with histiocytosis, germ cell tumors (GCT), and pediatric cancers. Tumors were analyzed using the MSK-IMPACT next-generation seq ...[more]

PMID: 36862133

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Project description:BackgroundPatient engagement is attracting considerable interest as a potential strategy to improve the conduct of clinical trials, with evidence of significant improvement in research participant recruitment. However, impact on the retention and adherence of clinical trial participants requires further studies. Embedded studies are specific research designs where a secondary study is "embedded" into a larger host study. We aimed to investigate the feasibility of embedding a study of patient partnership in research, within an ongoing multi-center clinical trial on drug treatment.MethodsWe developed and embedded a patient engagement intervention (embedded study) into a phase 3 randomized clinical drug trial (host study). The patient engagement intervention consisted of discussions between host study participants and a patient partner, to improve research participants' experience and retention in the clinical trial. We carried out individual semi-structured interviews with patient partners and other research team members involved in the development and implementation of the embedded study, as well as an analysis of project documents. Data were analyzed using qualitative thematic analysis.ResultsFactors impacting feasibility and lessons learned for future embedded studies on engagement science were identified. Barriers that curtailed the implementation of patient engagement into an ongoing clinical trial included: the late integration of the embedded study into the host clinical trial, different visions of patient partnership and its potential benefits, differences in communication style and preferences, a lack of fit between the specific needs of the host study and the proposed engagement model, and an overall sense of burden. Integrating patient partners into the host clinical trial was seen as potentially beneficial in improving the experience of participants in the host clinical trial through experience sharing, providing support for the consent process, and improving knowledge transfer.ConclusionsThis feasibility study offers insights into how contextual factors and decisions made during the design phase can impact the implementation of patient engagement studies embedded in a clinical trial. Findings suggest that knowledge of the clinical trial context (e.g., organizational, administrative, regulatory, ethics) and early collaboration among embedded study and host study teams before initiation of both studies are key conditions for success.

Dataset Information

Overcoming Barriers to Tumor Genomic Profiling through Direct-to-Patient Outreach.

Purpose

Experimental design

Results

Conclusions

Publications

Overcoming Barriers to Tumor Genomic Profiling through Direct-to-Patient Outreach.

Similar Datasets

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