Retrospective assessment of barriers and access to genetic services for hereditary cancer syndromes in an integrated health care delivery system

Hereditary Cancer in Clinical Practice

Erin Keast¹  Chalinya Ingphakorn¹  Elizabeth E. Shuster¹  Sarah Knerr²  Briana Arnold³  Marian J. Gilmore³  Tia L. Kauffman³  Ana A. Reyes³  Jessica Ezzell Hunter³  Katrina A. B. Goddard³  Jamilyn M. Zepp³  Kristin R. Muessig³  Heather S. Feigelson⁴ 

[1]Center for Health Research, Kaiser Permanente Northwest, 3800 N Interstate Avenue, 97227, Portland, OR, USA

[2]Department of Health Services, University of Washington, 1959 NE Pacific Street, 98195, Seattle, WA, USA

[3]Department of Translational and Applied Genomics, Center for Health Research, Kaiser Permanente Northwest, 3800 N Interstate Avenue, 97227, Portland, OR, USA

[4]Institute for Health Research Kaiser Permanente Colorado, 10065 E Harvard Avenue #300, 80231, Denver, CO, USA

关键词: Genetic evaluation;    Genetic referrals;    Hereditary breast and ovarian cancer;    Lynch syndrome;    Genetic testing;   

DOI  :  10.1186/s13053-022-00213-5

来源: Springer

【 摘 要 】

BackgroundA critical step in access to genetic testing for hereditary cancer syndromes is referral for genetic counseling to assess personal and family risk. Individuals meeting testing guidelines have the greatest need to be evaluated. However, referrals to genetics are underutilized in US patients with hereditary cancer syndromes, especially within traditionally underserved populations, including racial and ethnic minorities, low-income, and non-English speaking patients.MethodsWe studied existing processes for referral to genetic evaluation and testing for hereditary cancer risk to identify areas of potential improvement in delivering these services, especially for traditionally underserved patients.We conducted a retrospective review of 820 referrals to the Kaiser Permanente Northwest (KPNW) genetics department containing diagnosis codes for hereditary cancer risk. We classified referrals as high- or low-quality based on whether sufficient information was provided to determine if patients met national practice guidelines for testing. Through chart abstraction, we also assessed consistency with practice guidelines, whether the referral resulted in a visit to the genetics department for evaluation, and clinical characteristics of patients receiving genetic testing.ResultsMost referrals (n = 514, 63%) contained sufficient information to assess the appropriateness of referral; of those, 92% met practice guidelines for genetic testing. Half of referred patients (50%) were not offered genetic evaluation; only 31% received genetic testing. We identified several barriers to receiving genetic evaluation and testing, the biggest barrier being completion of a family history form sent to patients following the referral. Those with a referral consistent with testing guidelines, were more likely to receive genetic testing than those without (39% vs. 29%, respectively; p = 0.0058). Traditionally underserved patients were underrepresented in those receiving genetic evaluation and testing relative to the overall adult KPNW population.ConclusionsProcess improvements are needed to increase access to genetic services to diagnose hereditary cancer syndromes prior to development of cancer.

【 授权许可】

CC BY