RESUMEN
BACKGROUND: Given a link between sarcomas and hereditary cancer predisposition syndromes, including Li-Fraumeni syndrome, the consideration for genetic counseling is recommended for all adolescent and young adult (AYA) patients diagnosed with sarcoma. The aim of this study was to evaluate factors influencing genetic consultations in AYA patients with sarcoma at the University of Wisconsin (UW). METHODS: A retrospective chart review was performed on AYA patients diagnosed with sarcoma between the ages of 15 and 39 years who were seen at least once between 2015 to 2019 at UW. Our chart review identified discussions regarding genetics, referrals to genetics, genetic consultations, and results of genetic testing. Variables hypothesized to affect patient referrals for genetic consultation were identified a priori. Descriptive statistical methods and a univariate analysis were used to identify patient characteristics associated with genetic counseling referral. RESULTS: We identified 87 AYA patients with sarcoma. Only 19 (22%) of these patients had documentation of a discussion about genetics, 15 (17%) of whom were subsequently referred for genetic consultation. Of these 15 patients, 9 (60%) were seen in consultation. All 9 patients seen by genetics underwent genetic testing, with 4 (44%) of these patients having identified heritable cancer predisposition syndromes. Likelihood for genetics referral was linked most strongly to documented genetics discussion with an oncology provider (P<.001). CONCLUSIONS: Despite the recommendation for consideration for genetic counseling in AYA patients with sarcoma, <25% of such patients in our study had a documented discussion about genetics. Supporting this need, all referred patients met criteria for genetic testing, and 44% of tested patients were found to have a heritable cancer predisposition syndrome. These data support the initial conversation by a provider as critical to genetic referral and suggest the need for more specific national recommendations for the genetic evaluation of all AYA patients with sarcoma.
RESUMEN
PURPOSE: Given the occurrence of cancer during a complex developmental time, adolescent and young adult (AYA) patients have unique psychosocial needs that necessitate supportive care, which is optimally provided using National Comprehensive Cancer Network (NCCN) AYA guidelines. We sought to explore compliance with NCCN AYA guidelines and compare with oncology providers' perceptions of AYA care needs. METHODS: Retrospective chart reviews of AYA patients (15-39 years at time of cancer diagnosis) with sarcoma seen at least once in 2019 at the University of Wisconsin identified documentation of discussions deemed critical per NCCN AYA guidelines. As per the ASCO Quality Oncology Practice Initiative certification, we considered a threshold of these factors being discussed 75% of the time or higher to be compliant. Compliance was compared with an electronic survey of University of Wisconsin oncology providers regarding AYA patient needs, with items determined to have adequate resources if noted sufficient by at least 75% of providers. RESULTS: We identified 43 AYA patients with sarcoma. Less than 75% of patients had documentation of discussion of contraception, sexual health, fertility, finances, genetics, social work referral, and clinical trials indicating noncompliance with NCCN guidelines. Surveys, completed by 38 oncology providers, showed significant discordance between providers' perceptions of AYAs' access to resources and providers' documented discussions of supportive care resources. CONCLUSION: Disparities between oncology provider assessment of AYA care needs and documentation of critical components of AYA patient care demonstrate the need for novel tools to evaluate AYA care needs beyond provider assessments.