This project is part of the NIH’s Clinical Sequencing Exploratory Research program. The project’s goal is to integrate genomic sequence data into the care of childhood cancer patients with high-risk solid tumors and brain tumors. With clinical colleagues at Texas Children’s Cancer Center and genetic scientist at BCM’s Whole Genome Laboratory, the project is assessing the impact of reporting whole exome sequence data through physicians to participating parents. The project is evaluating physician-parent communication and clinical decision-making to explore:
- How the availability of tumor whole exome sequence data affects physician recommendations regarding enrollment on specific clinical trials and the treatment plans chosen in the scenario of tumor recurrence.
- How the availability of germline whole exome sequence data affects cancer surveillance for patients and genetic testing and cancer surveillance for family members.
Additionally, this project will address parental understanding, preferences for receiving genomic sequence data, and ethical issues related to the appropriate use and reporting of this information, including possible incidental findings in a pediatric setting.
Supported by: U01HG006485, National Human Genome Research Institute, NIH
- Sharon Plon, M.D., Ph.D., Overall Co-Principal Investigator, Project 1 Co-Principal Investigator
- D. William Parsons, M.D., Overall Co-Principal Investigator, Project 1 Co-Principal Investigator
- Richard Gibbs, Ph.D., Project 2 Co-Principal Investigator
- Christine Eng, M.D., Project 2 Co-Principal Investigator
- Janet Malek, Ph.D., Project 3 Co-Principal Investigator
- Richard Street, Jr., Ph.D., Project 3 Co-Principal Investigator
- Amy McGuire, J.D., Ph.D., Project 3 Co-Investigator
Scollon S, Bergstrom K, McCullough LB, McGuire AL, Gutierrez S, Kerstein R, Parsons DW, Plon SE. Pediatric cancer genetics research and an evolving preventive ethics approach for return of results after death of the subject. The Journal of Law, Medicine & Ethics. 2015 Sep;43(3):529-37.
McCullough LB, Slashinski MJ, McGuire AL, Street Jr RL, Eng CM, Gibbs RA, Parsons DW, Plon SE. Is whole‐exome sequencing an ethically disruptive technology? Perspectives of pediatric oncologists and parents of pediatric patients with solid tumors. Pediatric Blood and Cancer. 2016 Mar;63(3):511-5.
Gutierrez AM, Statham EE, Robinson JO, Slashinski MJ, Scollon S, Bergstrom KL, Street Jr RL, Parsons DW, Plon SE, McGuire AL. Agents of empathy: How medical interpreters bridge sociocultural gaps in genomic sequencing disclosures with Spanish-speaking families. Patient Education and Counseling. 2019 May 1;102(5):895-901.
Scollon S, Majumder MA, Bergstrom K, Wang T, McGuire AL, Robinson JO, Gutierrez AM, Lee CH, Hilsenbeck SG, Plon SE, Parsons DW. Exome sequencing disclosures in pediatric cancer care: Patterns of communication among oncologists, genetic counselors, and parents. Patient Education and Counseling. 2019 Apr 1;102(4):680-6.
Malek J, Pereira S, Robinson JO, Gutierrez AM, Slashinski MJ, Parsons DW, Plon SE, McGuire AL. Responsibility, culpability, and parental views on genomic testing for seriously ill children. Genetics in Medicine. 2019 Dec;21(12):2791-7.
Hsu RL*, Gutierrez AM*, Schellhammer SK, Robinson JO, Scollon S, Street Jr RL, Salisbury AN, Pereira S, Malek J, Parsons DW, Plon SE, McGuire AL. “Pediatric oncologists’ experiences returning and incorporating genomic sequencing results into cancer care.” Journal of Personalized Medicine. 2021 Jun; 11(6): 570. *These authors contributed equally to this work.
Gutierrez AM, Robinson JO, Statham EE, Scollon S, Bergstrom KL, Slashinski MJ, Parsons DW, Plon SE, McGuire AL, Street RL. Portero versus Portador: Spanish Interpretation of Genomic Terminology during Whole Exome Sequencing Results Disclosure. Personalized Medicine 14(6), 2017: 503-514.
Malek, J, M Slashinski, JO Robinson, Gutierrez AM, Parsons DM, Plon SE, McCullough LB, McGuire AL. Parental Perspectives on Whole Exome Sequencing in Pediatric Cancer: A Typology of Perceived Utility. Journal of Clinical Oncology: Precision Oncology, 2017. [Epub ahead of print]
Parsons DW, Roy A, Yang Y, Wang T, Scollon S, Bergstrom K, Kerstein RA, Gutierrez S, Petersen AK, Bavle A, Lin FY, López-Terrada DH, Monzon FA, Hicks MJ, Eldin KW, Quintanilla NM, Adesina AM, Mohila CA, Whitehead W, Jea A, Vasudevan SA, Nuchtern JG, Ramamurthy U, McGuire AL, Hilsenbeck SG, Reid JG, Muzny DM, Wheeler DA, Berg SL, Chintagumpala MM, Eng CM, Gibbs RA, Plon SE. Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors. JAMA, 2016. [Epub ahead of print]
Scollon S, Bergstrom K, Kerstein R, Wang T, Hilsenbeck SG, Ramamurthy U, Gibbs RA, Eng CM, Chintagumpala MM, Berg SL, McCullough LB, McGuire AL, Plon SE, Parsons DW. Obtaining Informed Consent for Clinical Tumor and Germline Exome Sequencing of Newly Diagnosed Childhood Cancer Patients. Genome Medicine, 6(9), 2014: 69.
Clayton EW, McCullough LB, Biesecker LG, Joffe S, Ross LF, Wolf SM, for the Clinical Sequencing Exploratory Research (CSER) Consortium Pediatrics Working Group. Addressing the Ethical Challenges in Genetic Testing and Sequencing of Children. Am J Bioeth, 14(3), 2014: 3-9.
McGuire AL, Joffe S, Koenig BA, Biesecker BB, McCullough LB, Blumenthal-Barby JS, Caulfield T, Terry SF, Green RC. Ethics and Genomic Incidental Findings. Science, 340, 2013: 1047-1048.
McGuire AL, Robinson JO, Ramoni RB, Morley DS, Joffe S, Plon SE. Returning Genetic Research Results: Study Type Matters. Personalized Medicine, 10(1), 2013: 27-34.
Ramoni RB, McGuire AL, Robinson JO, Morley DS, Plon SE, Joffe S. Experiences and Attitudes of Genome Investigators Regarding Return of Individual Genetic Test Results. Genetics in Medicine, 15(11), 2013: 882-887.
McGuire AL, McCullough LB, Evans JP. The Indispensable Role of Professional Judgment in Genomic Medicine. JAMA, 309, 2013: 1465-1466.
Hsu RL, Gutierrez AM, Schellhammer S, Robinson JO, Pereria S, Scollon S, Malek J, Parsons DW, Plon SE, McGuire AL. Was Implementing Genomic Sequencing in Pediatric Cancer Care Disruptive? Oncologists’ Views After Returning Genomic Results in The BASIC3 Study. American College of Medicine Genetics. March 17-21, 2020. Poster Presentation.
Gutierrez AM, Robinson JO, Slashinski MJ, Statham EE, Street RL, Parsons DW, Plon SE, McGuire AL, McCullough LB. More than Just Translation: The Role of Medical Interpreters in the Disclosure of Whole Exome Sequencing Results for Spanish-Speaking Families. American Society for Bioethics and Humanities Annual Conference. Washington, DC. October 2016.
Malek, J. Culpability and Responsibility in Parents’ Experiences with Genome Sequencing for Pediatric Cancer Patients. American Society for Bioethics and Humanities Annual Conference. Washington, DC, October 2016.
Malek, J. Parental Perspectives on Whole Exome Sequencing in Pediatric Cancer: A Typology of Perceived Utility. American Society of Human Genetics Annual Meeting. Vancouver, CA, October 2016.
Gutierrez AM, Robinson JO, Statham EE, Slashinski MJ, Scollon S, Bergstrom KL, Street RL, Parsons DW, Plon SE, McGuire AL, McCullough LB. Lost in Translation: How Medical Interpreters Modify the Communication of Whole Exome Sequencing Results during Translation for Spanish-Speaking Families. National Society of Genetic Counselors Annual Education Conference. Seattle, WA. September/October 2016. Poster Presentation.
McCullough LB, Slashinski MJ, Wycliff J, McGuire AL, Street Jr. RL, Parsons DW, Plon SE. Do Pediatric Oncologists and Parents Experience Whole Exome Sequencing of Solid Organ Tumors in Children as a Disruptive Technology? The American Society for Bioethics and Humanities Annual Meeting, San Diego, CA. October 2014.