Impact of Genetic Counseling on Patient-Reported Electronic Cancer Family History Collection
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Harvard Medical School; and
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Department of Data Sciences, Dana-Farber Cancer Institute, Boston, Massachusetts.
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Harvard Medical School; and
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Background: Cancer family history is a vital part of cancer genetic counseling (GC) and genetic testing (GT), but increasing indications for germline cancer GT necessitate less labor-intensive models of collection. We evaluated the impact of GC on patient pedigrees generated by an electronic cancer family history questionnaire (eCFHQ). Methods: An Institutional Review Board–approved review of pedigrees collected through an eCFHQ was conducted. Paired pre-GC and post-GC pedigrees (n=1,113 each group) were analyzed independently by cancer genetic counselors for changes in patient-reported clinical history and to determine whether the pedigrees met NCCN GT criteria. Discrepancy in meeting NCCN GT criteria between pre-GC and post-GC pedigrees was the outcome variable of logistic regressions, with patient and family history characteristics as covariates. Results: Overall, 780 (70%) patients had cancer (affected), 869 (78%) were female, and the median age was 57 years (interquartile range, 45–66 years; range, 21–91 years). Of the 1,113 pairs of pre-GC and post-GC pedigrees analyzed, 85 (8%) were blank, 933 (84%) were not discrepant, and 95 (9%) were discrepant in meeting any NCCN GT criteria. Of the discrepant pedigrees, n=79 (83%) became eligible for testing by at least one of the NCCN GT criteria after GC. Patients with discrepant pedigrees were more likely to report no or unknown history of GT (odds ratio [OR], 4.54; 95% CI, 1.66–18.70; P=.01, and OR, 18.47; 95% CI, 5.04–88.73; P<.0001, respectively) and belonged to racially and/or ethnically underrepresented groups (OR, 1.91; 95% CI, 1.08–3.25; P=.02). Conclusions: For most patients (84%), a standalone eCFHQ was sufficient to determine whether NCCN GT criteria were met. More research is needed on the performance of the eCFHQ in diverse patient populations.
Submitted October 18, 2021; final revision received March 3, 2022; accepted for publication April 29, 2022.
Author contributions: Study concept and design: Vanderwall, Kipnis, Stokes, Garber, Rana. Acquisition: Vanderwall, Schwartz, Kipnis, Skefos, Stokes. Data analysis and interpretation: All authors. Figure development: Stokes. Statistical support: Weitz, Gelman. Drafting: Vanderwall, Schwartz, Kipnis, Skefos, Stokes, Weitz, Gelman, Garber, Rana. Writing: Vanderwall, Schwartz, Kipnis, Skefos, Garber, Rana. Final approval: All authors.
Disclosures: Dr. Garber has disclosed receiving grant/research support from Ambry Genetics, AstraZeneca, Invitae, and Myriad Genetics, Inc.; serving as a consultant for Helix; and serving on a scientific advisory board for Helix and Konica Minolta, Inc. Dr. Rana has disclosed receiving grant/research support from Ambry Genetics and Invitae. The remaining authors have disclosed that they have not received any financial consideration from any person or organization to support the preparation, analysis, results, or discussion of this article.
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