Genetic risk assessment in primary care settings: An evaluation of NCCN guidelines

Autor: Kara J. Milliron, Bailey Hulswit, Amanda Cook, Stacy Fry, Alec Schraeder, Jerry Tippie, Kelly Hall, Lynn A. McCain, David Keren, Lee Schroeder, Sofia Merajver, Elena Martinez Stoffel
Rok vydání: 2022
Předmět:
Zdroj: Journal of Clinical Oncology. 40:10605-10605
ISSN: 1527-7755
0732-183X
DOI: 10.1200/jco.2022.40.16_suppl.10605
Popis: 10605 Background: Lynch syndrome (LS) and hereditary breast and ovarian cancer (HBOC) have a population prevalence of 1/2791 and 1/4002, respectively. Despite this, >80% of patients referred for cancer genetic counseling report personal or family history of breast cancer3. This disparity may be due to increased media attention for HBOC, lower levels of provider awareness of LS, and less discussion of colorectal cancer within families compared to breast cancer4. However, potential biases in National Comprehensive Cancer Network (NCCN) criteria for genetics evaluation (GE) have not been studied. This project examined the performance of NCCN guidelines for identifying individuals meeting criteria for GE ascertained through primary care (PC) settings. Methods: Individuals scheduled for routine PC appointments at three Michigan Medicine affiliated practices from 10/24/18 through 1/24/22 were emailed a link to complete an online personal and family history (P/FHx) risk assessment module (INHERET) collecting information about cancer diagnoses (age/cancer type) in 1st, 2nd, and 3rd degree relatives. The module was written at a 4th grade reading level and could be accessed on any internet-connected device. NCCN guidelines were applied to determine if patients met criteria for GE of HBOC and/or LS. Results: A total of 465 individuals completed the module; nearly one in three (30.6%, 142/465) met NCCN criteria for GE of HBOC or LS. Of those meeting criteria, 132 (92.9%) had no personal history of cancer. The most common indication for GE was HBOC (29.5%, 137/465) and 30 patients (6.5%) met HBOC referral criteria solely based on Ashkenazi Jewish ancestry. Only 17/465 (3.7%) individuals met NCCN criteria for GE of LS. Interestingly, 12/17 (70.6%) who met criteria for GE of LS also met criteria for GE of HBOC. The completion rate was not 100% and cannot be determined; it is not known how many patients were offered the option of completing the module. This limits the study, as ascertainment bias cannot be assessed. Conclusions: Nearly one-third of PC patients who completed the P/FHx module met NCCN criteria for genetic evaluation of HBOC and/or LS. Referrals for HBOC outnumber those for LS, even though LS is just as common1, 2, 3. Further evaluation of NCCN criteria is needed to evaluate whether patients may be over-referred for HBOC and/or under-referred for LS. Unfortunately, we were not able to confirm receipt of email invitations or accurately calculate completion rate of the P/FHX risk assessment module, which limited our ability to assess for ascertainment/response bias. [Table: see text]
Databáze: OpenAIRE
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