Assessing Patient Experience with Informed Consent for Genetic Testing in the Inpatient Setting
Health Services and Implementation
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Primary Categories:
- Clinical Genetics
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Secondary Categories:
- Clinical Genetics
Introduction:
Obtaining informed consent for genetic testing includes several critical components, such as educating patients on the nature of the genetic test, its limitations, benefits, the risk of a variant of uncertain significance (VUS), and the protections and limitations of the Genetic Information Nondiscrimination Act (GINA). With the increased availability of genetic testing, physicians and providers with varying knowledge of medical genetics order genetic testing, including physicians, residents, advanced practice nurses and others. We hypothesized that some critical components of informed consent for genetic testing were not being routinely discussed or understood by patients.
Methods:
We assessed whether patients received counseling on critical components of informed consent for genetic testing using a telephone survey conducted between October to December 2023. Families were eligible to participate if they had an infant or child who had microarray testing performed during their inpatient admission at University of California, San Francisco, a single tertiary care children’s hospital. Ordering provider, whether informed consent was documented and other pertinent clinical information was obtained by retrospective chart review. Descriptive statistics were derived using standard methods.
Results:
The response rate was 76% (34/45). Eighty-five per cent (29/34) reported being counseled that genetic testing was voluntary, while 53% (18/34) recalled being counseled how the genetic testing could change management for their child. Only 47% (16/34) reported being counseled that a VUS could be a type of result, 32% (11/34) recalled that incidental findings, such as non-paternity, could be discovered as part of genetic testing and 44% (15/34) recalled being counseled on the protections and limitations of GINA. Forty percent (14/35) of patients had clinical notes documenting informed consent. Among those with documentation of informed consent, there were higher rates of recall versus those with no documentation that a VUS is a type of result (8/14 (57%) vs. 8/20 (40%)), that results could change in the future (10/14 (71%) vs. 7/20 (35%)), that incidental findings were possible (7/14 (50%) vs. 4/20 (20%)) but recollection of GINA was similar (6/14 (43%) vs 9/20 (45%)). For each of the 34 patients, 12% had genetic testing ordered by a nurse practitioner/APP, 38% had testing ordered by a resident or fellow, and 53% were ordered by an attending physician (including 6% genetics providers).
Conclusion:
Our study highlights significant gaps in informed consent of patients and families for genetic testing in the inpatient setting, with less than half of families recalling being counseled on the protections and limitations of GINA, that a VUS is a type of result, or that incidental findings are possible. Notably, most genetic tests were not ordered by a genetics providers, suggesting gaps in non-genetics provider awareness and education about the elements of informed consent for genetic testing. The association between documentation of consent and higher rates of patient/family recall of informed consent elements suggests that implementation of standardized consent documentation could improve quality and comprehensiveness of inpatient consenting for genetic testing. Although this may be limited by recall bias, this study suggests improvements are needed in the approach to obtaining informed consent for genetic testing for inpatients. Future directions will include targeted interventions for quality improvement by addressing system and provider factors.
Obtaining informed consent for genetic testing includes several critical components, such as educating patients on the nature of the genetic test, its limitations, benefits, the risk of a variant of uncertain significance (VUS), and the protections and limitations of the Genetic Information Nondiscrimination Act (GINA). With the increased availability of genetic testing, physicians and providers with varying knowledge of medical genetics order genetic testing, including physicians, residents, advanced practice nurses and others. We hypothesized that some critical components of informed consent for genetic testing were not being routinely discussed or understood by patients.
Methods:
We assessed whether patients received counseling on critical components of informed consent for genetic testing using a telephone survey conducted between October to December 2023. Families were eligible to participate if they had an infant or child who had microarray testing performed during their inpatient admission at University of California, San Francisco, a single tertiary care children’s hospital. Ordering provider, whether informed consent was documented and other pertinent clinical information was obtained by retrospective chart review. Descriptive statistics were derived using standard methods.
Results:
The response rate was 76% (34/45). Eighty-five per cent (29/34) reported being counseled that genetic testing was voluntary, while 53% (18/34) recalled being counseled how the genetic testing could change management for their child. Only 47% (16/34) reported being counseled that a VUS could be a type of result, 32% (11/34) recalled that incidental findings, such as non-paternity, could be discovered as part of genetic testing and 44% (15/34) recalled being counseled on the protections and limitations of GINA. Forty percent (14/35) of patients had clinical notes documenting informed consent. Among those with documentation of informed consent, there were higher rates of recall versus those with no documentation that a VUS is a type of result (8/14 (57%) vs. 8/20 (40%)), that results could change in the future (10/14 (71%) vs. 7/20 (35%)), that incidental findings were possible (7/14 (50%) vs. 4/20 (20%)) but recollection of GINA was similar (6/14 (43%) vs 9/20 (45%)). For each of the 34 patients, 12% had genetic testing ordered by a nurse practitioner/APP, 38% had testing ordered by a resident or fellow, and 53% were ordered by an attending physician (including 6% genetics providers).
Conclusion:
Our study highlights significant gaps in informed consent of patients and families for genetic testing in the inpatient setting, with less than half of families recalling being counseled on the protections and limitations of GINA, that a VUS is a type of result, or that incidental findings are possible. Notably, most genetic tests were not ordered by a genetics providers, suggesting gaps in non-genetics provider awareness and education about the elements of informed consent for genetic testing. The association between documentation of consent and higher rates of patient/family recall of informed consent elements suggests that implementation of standardized consent documentation could improve quality and comprehensiveness of inpatient consenting for genetic testing. Although this may be limited by recall bias, this study suggests improvements are needed in the approach to obtaining informed consent for genetic testing for inpatients. Future directions will include targeted interventions for quality improvement by addressing system and provider factors.