ABSTRACT
Purpose
Emerging genetic tests such as genomic sequencing (GS) can generate a broad range
of benefits, but funding criteria only prioritize diagnosis and clinical management.
There is limited evidence on all types of benefits obtained from GS in practice. We
aimed to explore real-world experiences of Canadian clinicians across specialties
on the full range of benefits obtained from the results from GS.
Methods
We conducted a qualitative study using semistructured interviews with Canadian clinicians.
Transcripts were thematically analyzed using constant comparison.
Results
In total, 25 clinicians participated, including 12 geneticists, 7 genetic counselors,
4 oncologists, 1 neurologist, and 1 family physician.
Although diagnoses and management were the most valued benefits of GS, clinicians
also prioritized nontraditional utility, such as access to community supports. However,
clinicians felt “restricted” by funding bodies, which only approved funding when GS
would inform diagnoses and management. Consequently, clinicians sought ways to “cheat
the system” to access GS (eg, research testing) but acknowledged workarounds were
burdensome, drove inequity, and undermined patient care.
Conclusion
Current governance structures undervalue real-world benefits of GS leading clinicians
to adopt workarounds, which jeopardize patient care. These results support calls for
the expansion of the definition of clinical utility and research to quantify the additional
benefits.
Keywords
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Article info
Publication history
Published online: May 25, 2022
Accepted:
April 28,
2022
Received in revised form:
April 27,
2022
Received:
February 23,
2022
Identification
Copyright
© 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.
