Quality of Clinician-Reported Cancer History When Ordering Genetic Testing

Abstract

Purpose Clinical history data reported on test requisition forms (TRFs) for hereditary cancer multigene panel testing (MGPT) are routinely used by genetic testing laboratories. More recently, publications have incorporated TRF-based clinical data into studies exploring yield of testing by phenotype and estimating cancer risks for mutation carriers. We aimed to assess the quality of TRF data for patients undergoing MGPT. Patients and Methods Ten percent of patients who underwent hereditary cancer MGPT between January and June 2015 at a clinical laboratory were randomly selected. TRF-reported cancer diagnoses were evaluated for completeness and accuracy for probands and relatives using clinical documents such as pedigrees and chart notes as the comparison standard in cases where these documents were submitted after the time of test order. Results TRF-reported cancer sites and ages at diagnosis were complete for > 90.0% of proband cancer diagnoses overall, and the completion rate was even higher (> 96.0%) for breast, ovarian, colorectal, and uterine cancers. When reported, these data were accurate on TRFs for > 99.5% of proband cancer sites and > 97.5% of proband ages at diagnosis. Cancer site and age at diagnosis data were also complete on the TRF for the majority of cancers among first- and second-degree relatives. Completeness decreased as relation to the proband became more distant, whereas accuracy remained high across all degrees of relation. Conclusion Data collected as part of cancer genetic risk assessment is completely and accurately reported on TRFs for the majority of probands and their close relatives and is comparable to information directly obtained from clinic notes, particularly for breast and other cancers commonly associated with hereditary cancer syndromes.

Loss-of-function variants in CTNNA1 detected on multigene panel testing in individuals with gastric or breast cancer

“…However, recent data have demonstrated that ordering clinicians typically do an accurate job of reporting personal and family history on requisition forms. 23 Another limitation to our study is that the breast cancer type was provided in less than half of the reported breast cancers in the CTNNA1 LOF carriers. Additionally, individuals undergoing CTNNA1 requisitioning are subject to selection bias as these individuals primarily had a personal or family history of cancer.…”

A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients

“…Though it is possible that pertinent cancer history was either not reported or incorrectly reported on the TRF, results from a recent study found that TRF-based cancer history from the laboratory used in this study-specifically cancer type and age at diagnosis-is of high quality for probands and their close relatives. 39 sometimes necessary to fully apply NCCN testing criteria. For example, Gleason score is needed to fully assess BRCA1/2 testing criteria; however, this was not systematically included on the TRF and thus unavailable for many prostate cancer patients in this study.…”

Prevalence of germline variants in inflammatory breast cancer

“…Although this may be considered a limitation, we would argue that there is a high degree of specificity in reporting IBC, and it is much more likely that this detailed information is underreported rather than overreported or misreported on test requisition forms or in genetic counseling sessions. Furthermore, a laboratory‐based quality analysis of breast cancer reporting on test requisitions in comparison with clinic notes demonstrated a high level of accuracy of reporting for breast cancer cases . Lastly, the majority of family cancer histories from the clinical cohort were obtained by a genetic counselor; however, this process was not uniform in the combined cohort and is a limitation.…”

“…Furthermore, a laboratory-based quality analysis of breast cancer reporting on test requisitions in comparison with clinic notes demonstrated a high level of accuracy of reporting for breast cancer cases. 24 Lastly, the majority of family cancer histories from the clinical cohort were obtained by a genetic counselor; however, this process was not uniform in the combined cohort and is a limitation.…”