Evaluating utility and improving implementation of genomic sequencing for pediatric cancer patients in the diverse population and healthcare settings of Texas
The Texas KidsCanSeq Study is part of the Clinical Sequencing Evidence-Generating Research (CSER) consortium funded by the NIH National Human Genome Research Institute. The goal of the study is to integrate genomic sequence information into the care of childhood cancer patients with high-risk solid tumors and brain tumors. In conjunction with Texas Children’s Cancer Center and BCM’s Whole Genome Laboratory, KidsCanSeq assesses the utility of exome sequence (ES) testing compared to more targeted methods in pediatric cancer patients.
Supported by: U01HG006485, National Human Genome Research Institute, National Cancer Institute, NIH
Building on the previous success of the BASIC3 study, over four years, KidsCanSeq is enrolling 1100 pediatric patients and their patients at several diverse healthcare setting across Texas. The diverse settings of the study allow us to evaluate our novel, culturally sensitive approaches to the informed consent process – including informational videos in English and Spanish - and return of results that includes communicating complex genomic information to families and physicians.
We are exploring utility from a broad range of perspectives including:
- Clinical utility of the ES testing to impact treatment decisions, and the impact of germline diagnostic and/or actionable findings on surveillance and testing recommendations for family members.
- Parents' perceived utility, including clinical and personal utility of the ES information.
- Oncologists' perceived and actual utility of the ES information.
Parents complete longitudinal surveys to assess their perceived utility of and feelings about their child’s genomic results. At follow-up, parents also provide information about whether other family members followed up on any testing and surveillance recommendations, as well as barriers to doing so. Oncologists enrolled in the study complete multiple surveys to assess the clinical utility of genomic testing and its effect on treatment decisions, as well as their perceived utility of the information.
Supported by: U01HG006485, National Human Genome Research Institute and National Cancer Institute, NIH
Supplement Project: Measuring Perceptions of Utility of Clinical Genome Sequencing: Instrument Development and Validation
A major goal of the CSER consortium is to generate evidence regarding the utility of genomic sequencing (GS). Specifically, the aim is to understand what clinical utility (e.g., impact on diagnosis, treatment, and management) and other dimensions of utility beyond those captured in medical records (e.g., psychological and pragmatic utility) clinicians, patients, families and society experience with GS information. We are developing a survey instrument to assess patients' and families' perceived utility using a rigorous methodological approach in order to generate comprehensive evidence of the broad dimensions of utility of GS. To develop this survey instrument, we are:
Developing a typology of how different stakeholders define utility through a systematic literature review. Conducting interviews with adult patients and parents of pediatric patients who received GS across diverse clinical settings that comprise the CSER consortium studies (n=60, 10 at each of 6 sites). Triangulating data from the typology and interviews to develop a comprehensive conceptual model of the relevant dimensions of perceived patient utility. This model will guide the generation of an item pool for survey instrument development that will be refined and pilot tested according to established practices for measuring patient-reported outcomes and instrument development.
Supported by: U01HG006485-S1, National Human Genome Research Institute, NIH
- Sharon Plon, M.D., Ph.D., Overall Co-Principal Investigator
- D. William Parsons, M.D., Overall Co-Principal Investigator
- Amy McGuire, J.D., Ph.D., Overall Co-Principal Investigator
- Janet Malek, Ph.D., Co-Investigator
- Mary Majumder, J.D., Ph.D., Co-Investigator
Goddard KAB, Angelo FAN, Ackerman SL, et al. Lessons learned about harmonizing survey measures for the CSER consortium. Journal of Clinical and Translational Science. 2020;4(6):537-546. doi:10.1017/cts.2020.41.
Smith HS, Brothers KB, Knight SJ, Ackerman SL, Rini C, Veenstra DL, McGuire AL, Wilfond BS, Malek J. Conceptualization of utility in translational clinical genomics research. Am J Hum Genet. 2021 Nov 4;108(11):2027-2036. doi: 10.1016/j.ajhg.2021.08.013. Epub 2021 Oct 22. PMID: 34687653; PMCID: PMC8595895.
Plon, Sharon et al. Physician recommendations after germline sequencing in pediatric cancer patients: Texas KidsCanSeq study, Genetics in Medicine, 2022. Volume 24, Issue 3, S344.
Gutierrez AM, Robinson JO, Outram SM, Smith HS, Kraft SA, Donohue KE, Biesecker BB, Brothers KB, Chen F, Hailu B, Hindorff LA, Hoban H, Hsu RL, Knight SJ, Koenig BA, Lewis KL, Lich KH, O’Daniel JM, Sasaki SO, Tomlinson GE, Waltz M, Wilfond BS, Ackerman SL, Majumder MA. Examining Access to Care in Clinical Genomic Research and Medicine: Experiences from the CSER Consortium. Journal of Clinical and Translational Science. Epub ahead of print; 2021.
Smith HS, Morain SR, Robinson JO, Canfield I, Malek J, Rubanovich CK, Bloss CS, Ackerman SL, Biesecker B, Brothers KB, Goytia CN, Horowitz CR, Knight SJ, Koenig B, Kraft SA, Outram S, Rini C, Shipman KJ, Waltz M, Wilfond B, McGuire AL. Perceived Utility of Genomic Sequencing: Qualitative Analysis and Synthesis of a Conceptual Model to Inform Patient-Centered Instrument Development. The Patient. Epub ahead of print; 2021.
Lindberg NM, Gutierrez AM, Mittendorf KF, Ramos M, Anguiano B, Angelo F, Joseph G. Challenges and Lessons Learned in Creating Accessible Study Materials for Spanish-speaking Participants in CSER Consortium Projects. Personalized Medicine. 2021 Aug; 18(5).
Horowitz CR, Orlando LA, Slavotinek AM, Peterson J, Angelo F, Biesecker B, Bonham VL, Cameron LD, Fullerton SM, Gelb BD, Goddard KAB, Hailu B, Hart R, Hindorff LA, Jarvik GP, Kaufman D, Kenny EE, Knight SJ, Koenig BA, Korf BR, Madden E, McGuire AL, Ou J, Wasserstein MP, Robinson M, Leventhal H, Sanderson SC. The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research. Am J Hum Genet. 2019 Jun 6;104(6):1088-1096. doi: 10.1016/j.ajhg.2019.04.006. Epub 2019 May 16.
Robinson JO, Wynn J, Biesecker B, Biesecker L, Bernhardt B, Brothers KB, Chung WK, Christensen KD, Green RC, Kaufman D, McGuire AL, Hart MR, Griesemer I, Patrick DL, Rini C, Veenstra D, Cronin AM, Gray SW. Psychological Outcomes Related to Exome and Genome Sequencing Result Disclosure: A Meta-Analysis of Seven Clinical Sequencing Exploratory Research (CSER) Consortium Studies. Genetics in Medicine 2019.
Amendola, L.M., Berg, J.S., Horowitz, C.R., Angelo, F., Bensen, J.T., Biesecker, B.B., Biesecker, L.G., Cooper, G.M., East, K., Filipski, K. and Fullerton, S.M., 2018. The clinical sequencing evidence-generating research consortium: integrating genomic sequencing in diverse and medically underserved populations. The American Journal of Human Genetics, 103(3), pp.319-327.
Malek J, Robinson J, Smith HS, Gutierrez A, Classen S, Scollon S, Parsons DW, Plon S, McGuire A. How useful is genome sequencing to parents of pediatric cancer patients? Findings from the Texas KidsCanSeqStudy. ELSIcon2022: Innovating for a Just and Equitable Future. (2022).
Gutierrez A, Robinson J, Recinos A, Desrosiers L, Majumder M, Scollon S. Families’ experiences accessing follow-up care after receiving significant germline results through a pediatric cancer research study. ELSIcon2022: Innovating for a Just and Equitable Future. (2022).
Gutierrez AM, Robinson JO, Scollon S, Majumder MA, Street RL, Parsons DW, Plon SE, McGuire AL. “Spanish-preferring parents' perceptions of and satisfaction with communication in a pediatric cancer genomic setting.” American Public Health Association Annual Meeting. October 23-27, 2021.
Gutierrez AM, Robinson JO, Scollon S, Majumder MA, Street RL, Parsons DW, Plon SE, McGuire AL. “Perspectives and preferences of adolescent and young adult cancer patients related to their participation in genomic research.” American Society for Bioethics and Humanities Annual Conference. October 13-16, 2021.
Malek J, Robinson JO, Gutierrez AM, Wang T, Smith HS, Raesz-Martinez R, Scollon S, Recinos A, Majumder MA, Parsons DW, Plon SE, McGuire AL. Great Expectations: Parents’ Perceptions of Genomic Sequencing in Pediatric Cancer Patients. American Society for Bioethics and Humanities Annual Conference. October 13-16, 2021.
Malek J, Smith H, Islam R, Robinson JO, Hsu RL, Canfield I, Raesz-Martinez R, Recinos A, Scollon S, Majumder MA, Parsons DW, Plon SE, McGuire AL. Parents’ Expected Utility of Genomic Sequencing for Pediatric Cancer Patients in the Texas KidsCanSeq Study. American College of Medicine Genetics. March 17-21, 2020.
McGuire AL (Moderator), Malek J, Smith H, Brothers Kyle. Utility of Genomic Testing: A Multidisciplinary Perspective. American Society for Bioethics and Humanities Annual Meeting. Pittsburgh, PA, US. October 24-27, 2019. Accepted as panel presentation
Gutierrez AM, Robinson JO, Malek J, Majumder M, Street RL, Parsons DW, Plon SE, McGuire AL. Implications and considerations for engaging diverse participant populations in genome research: Emerging lessons from the Texas KidsCanSeq Study. American Public Health Association Annual Meeting. Philadelphia, PA, US. November 2-6, 2019. Accepted as poster presentation.
Plon S, Amendola L, Horowitz C, Joseph G. Addressing Literacy and Language to Equitably Deliver on the Promise of Precision Medicine. American College of Medical Genetics Annual Meeting. April 2-6, 2019. Workshop.
Gutierrez AM, Robinson JO, Hsu RL, Petersen DK, Malek J, Majumder MA, Street RL, Parsons DW, Plon SE, McGuire AL. The Texas KidsCanSeq Study: Enrolling Diverse Patient Populations into Genome Research. American Society for Bioethics and Humanities Annual Meeting. Anaheim, CA, US. October 18-21, 2018. Oral presentation.
Supplement Project: Adolescent and Young Adult Cancer Patients’ Attitudes toward and Decision-Making Preferences about Clinical
The purpose of this supplement is to examine whether and how adolescent and young adult (AYA) patients with a cancer diagnosis want to be involved in decision making about genomic sequencing. Six months after receiving their genetic test results, we ask AYA patient-participants enrolled in the KidsCanSeq study to complete a 5-minute online survey about their attitudes toward and perceived utility of their results, as well as their satisfaction with the return of results process and preferences for making decisions about their study enrollment and cancer care.
Supported by: U01HG006485-S2, National Human Genome Research Institute, NIH