Patient experiences with hereditary cancer genetic test result release in the setting of the 21st Century Cures Act final rule
5 affiliations
- 1Master of Science in Genetic Counseling Program, Perelman School of Medicine, University of Pennsylvania, PA Philadelphia, USA
- 2Division of Hematology/Oncology, Department of Medicine, University of Pennsylvania Health System, Philadelphia, PA 19104 USA
- 3Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA USA
- 4Division of Translational Medicine & Human Genetics, Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA USA
- 5Division of Gastroenterology and Hepatology, Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA USA
Abstract
The 21st Century Cures Act Final Rule is a federal law recently implemented in the United States of America which prompted a practice shift among genetic counselors who historically disclosed genetic testing results by directly speaking with patients. Herein, we report participant experiences following a single-center’s approach of patients selecting provider-facilitated versus immediate release of hereditary cancer genetic testing results in the electronic health record preceding provider review. A voluntary survey was sent to patients who completed pre-test genetic counseling and hereditary cancer genetic testing within the University of Pennsylvania Health System. Responses were analyzed using descriptive statistics. Participants (n = 153) were predominately White (77%), female (81%), obtained Master’s or Doctoral degrees (47%), and a median age of 60 (range 22–81). Participants across both result release cohorts did not differ in demographics, indication for testing, answers to knowledge-based questions or initial emotional responses. When asked about release preference for future genetic testing, most participants preferred provider-facilitated electronic portal message or a phone call. Of the participants who initially elected immediate release, only 18% (20/113) would again elect immediate release for future genetic tests. Participants across results release cohorts predominately elect for provider-facilitated release for future genetic testing, suggesting provider involvement may benefit patient disclosure experience.
Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1007/s10689-026-00613-9.
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BibTeX
@article{bell2026patient,
title = {{Patient experiences with hereditary cancer genetic test result release in the setting of the 21st Century Cures Act final rule}},
author = {Cameron Bell and Samantha Pipito and Ashika Mani and Arravinth Anantharajah and Taylor Apostolico and Angela G. Arnold and Jacqueline Cappadocia and Dana Farengo Clark and Melissa Heller and Jessica M. Long and Derek Mann and Emma McKennon and Joanna Mercado and Jacquelyn Powers and Anna Raper and Kelsey Spielman and Bryson W. Katona and Kara Maxwell and Katherine L. Nathanson and Mersedeh Rohanizadegan and Payal D. Shah and Angela Bradbury and Susan M. Domchek and Rebecca Mueller and Jessica E. Ebrahimzadeh},
journal = {Familial Cancer},
year = {2026},
month = oct,
doi = {10.1007/s10689-026-00613-9},
url = {https://doi.org/10.1007/s10689-026-00613-9},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Patient experiences with hereditary cancer genetic test result release in the setting of the 21st Century Cures Act final rule
AU - Cameron Bell
AU - Samantha Pipito
AU - Ashika Mani
AU - Arravinth Anantharajah
AU - Taylor Apostolico
AU - Angela G. Arnold
AU - Jacqueline Cappadocia
AU - Dana Farengo Clark
AU - Melissa Heller
AU - Jessica M. Long
AU - Derek Mann
AU - Emma McKennon
AU - Joanna Mercado
AU - Jacquelyn Powers
AU - Anna Raper
AU - Kelsey Spielman
AU - Bryson W. Katona
AU - Kara Maxwell
AU - Katherine L. Nathanson
AU - Mersedeh Rohanizadegan
AU - Payal D. Shah
AU - Angela Bradbury
AU - Susan M. Domchek
AU - Rebecca Mueller
AU - Jessica E. Ebrahimzadeh
PY - 2026
DA - 2026/10/27
JO - Familial Cancer
DO - 10.1007/s10689-026-00613-9
UR - https://doi.org/10.1007/s10689-026-00613-9
AB - The 21st Century Cures Act Final Rule is a federal law recently implemented in the United States of America which prompted a practice shift among genetic counselors who historically disclosed genetic testing results by directly speaking with patients. Herein, we report participant experiences following a single-center’s approach of patients selecting provider-facilitated versus immediate release of hereditary cancer genetic testing results in the electronic health record preceding provider review. A voluntary survey was sent to patients who completed pre-test genetic counseling and hereditary cancer genetic testing within the University of Pennsylvania Health System. Responses were analyzed using descriptive statistics. Participants (n = 153) were predominately White (77%), female (81%), obtained Master’s or Doctoral degrees (47%), and a median age of 60 (range 22–81). Participants across both result release cohorts did not differ in demographics, indication for testing, answers to knowledge-based questions or initial emotional responses. When asked about release preference for future genetic testing, most participants preferred provider-facilitated electronic portal message or a phone call. Of the participants who initially elected immediate release, only 18% (20/113) would again elect immediate release for future genetic tests. Participants across results release cohorts predominately elect for provider-facilitated release for future genetic testing, suggesting provider involvement may benefit patient disclosure experience. Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1007/s10689-026-00613-9.
SN - 1389-9600
SN - 1573-7292
ER -