@article{3f5531ce310740c7b758e4678170b608,
title = "Should Secondary Pharmacogenomic Variants Be Actively Screened and Reported When Diagnostic Genome-Wide Sequencing Is Performed in a Child?",
abstract = "This white paper was prepared by the Global Alliance for Genomics and Health Regulatory and Ethics Work Stream's Pediatric Task Team to review and provide perspective with respect to ethical, legal, and social issues regarding the return of secondary pharmacogenomic variants in children who have a serious disease or developmental disorder and are undergoing exome or genome sequencing to identify a genetic cause of their condition. We discuss actively searching for and reporting pharmacogenetic/genomic variants in pediatric patients, different methods of returning secondary pharmacogenomic findings to the patient/parents and/or treating clinicians, maintaining these data in the patient's health record over time, decision supports to assist using pharmacogenetic results in future treatment decisions, and sharing information in public databases to improve the clinical interpretation of pharmacogenetic variants identified in other children. We conclude by presenting a series of points to consider for clinicians and policymakers regarding whether, and under what circumstances, routine screening and return of pharmacogenomic variants unrelated to the indications for testing is appropriate in children who are undergoing genome-wide sequencing to assist in the diagnosis of a suspected genetic disease.",
keywords = "Exome sequencing, Genome sequencing, Pharmacogenetics, Pharmacogenomics, Secondary findings",
author = "{Global Alliance for Genomics and Health Regulatory and Ethics Workstream} and Friedman, {Jan M} and Yvonne Bombard and Bruce Carleton and Issa, {Amalia M} and Bartha Knoppers and Plon, {Sharon E} and Vasiliki Rahimzadeh and Relling, {Mary V} and Williams, {Marc S} and {van Karnebeek}, Clara and Danya Vears and Cornel, {Martina C}",
note = "Funding Information: Yvonne Bombard is co-founder and CEO of the Genetics Adviser and has a stake in the business. She has received consultation fees from the Canadian Agency for Drugs and Technologies in Health. She is also a board member of Exactis Innovation, the American Society of Human Genetics, and the Canadian Institutes of Health Research Institute of Genetics, although she receives no compensation for this service. Bruce Carleton is the Director of the Pharmaceutical Outcomes Programme (POPi) at the BC Children's Hospital. The POPi has received financial support for its pharmacogenomics research from the Canadian Institutes of Health Research, Genome Canada, Genome British Columbia, the Provincial Health Services Authority, the BC Children's Hospital Research Institute, National Institutes of Health, Canadian Cancer Society, University Health Network, Western Canadian Universities, and Dynacare. Sharon E. Plon is a member of the Scientific Advisory Board of Baylor Genetics. Vasiliki Rahimzadeh is a paid member on the Bioethics Advisory Panel of the National Aeronautics and Space Administration. She has received consulting fees from the Coalition Against Childhood Cancer, as well as research funding from the National Institutes of Health. Mary V. Relling receives funding for research from the National Institutes of Health and from Servier; her spouse is on the Board of BioSkryb. Martina C. Cornel is employed by a University Medical Centre that performed pilot studies on pharmacogenetic profiles for people undergoing exome sequencing. All other authors declare no conflicts of interest. Publisher Copyright: {\textcopyright} 2023 The Authors",
year = "2024",
month = feb,
day = "1",
doi = "https://doi.org/10.1016/j.gim.2023.101033",
language = "English",
volume = "26",
pages = "101033",
journal = "Genetics in medicine",
issn = "1098-3600",
publisher = "Lippincott Williams and Wilkins",
number = "2",
}