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An Imperfect System: Access to Genetic Testing and Hereditary Cancer Syndrome Care - A National Survey

Ethical Legal Social Issues (ELSI) Public Health and Policy
  • Primary Categories:
    • ElSI Ethics Legal and Social Issues
  • Secondary Categories:
    • ElSI Ethics Legal and Social Issues
Introduction:
Hereditary cancer syndromes (HCS) are among the most common types of inherited diseases. Diagnosing HCS typically involves genetic testing to identify pathogenic or likely pathogenic variants in cancer-predisposing genes, even in individuals who may not yet have developed cancer. HCS patients often require lifelong medical monitoring and support, including annual screenings (e.g., mammograms) and psychosocial services such as therapy and support groups. In Canada, where healthcare is publicly funded, many services are covered by government funding, minimizing out-of-pocket costs for patients. High-risk individuals can access hereditary cancer screening programs aimed at improving early detection and comprehensive care. However, the Canadian HCS care system is decentralized, which may affect patient experiences. Despite this, limited research has investigated the healthcare experiences of HCS patients within such a system. This study seeks to fill this gap by examining HCS patient care experiences within a large, publicly funded, decentralized healthcare system.

Methods:
A cross-sectional, anonymous survey was conducted across three Canadian provinces with different healthcare delivery models to explore the healthcare experiences of patients with HCS. This preliminary analysis focuses on data from one province—Ontario. The survey was distributed through two large hereditary cancer clinics to individuals aged 18 and older who tested positive for a pathogenic (P) or likely pathogenic variant (LP) in a hereditary cancer-predisposing gene and received their care in Ontario. The survey, which has been active since July 2024 and is still collecting responses, used a 5-point Likert scale format to assess participants' experiences. Descriptive statistics were used to analyze the survey data, summarizing response distributions. 

Results:
Of the 3,232 patients invited to participate, 285 responded, with 7 deemed ineligible and 41 incomplete responses, leaving 237 full responses for analysis. The majority of respondents reported receiving a clinical diagnosis of Hereditary Breast and Ovarian Cancer Syndrome (n = 75, 32%) or Lynch Syndrome (n = 50, 21%). The average age was 55 years (range 24-90, SD = 14.55), and the majority (n=136, 58%) did not have a current or past cancer diagnosis. Most participants lived in large urban areas (n=174, 73%), were of white/European ethnicity (n=164, 67%), and were female (n=164, 69%). Eighty-eight percent of respondents (n=195) reported receiving sufficient assistance from healthcare providers, and 74% (n=162) felt their family doctors were knowledgeable about genetic testing. However, 33% (n=74) indicated the need to self-advocate to obtain genetic testing. The average wait time for testing was 10.8 weeks, with results typically returned after 8.8 weeks; 71% (n=155) did not perceive these wait times as excessive. In terms of follow-up care, 81% (n=188) felt they received adequate support from healthcare providers, and 70% (n=163) knew whom to contact for additional questions. However, 22% (n=50) mentioned lacking access to supplementary resources such as counseling or support groups after receiving their results. For HCS screening, 82% (n=191) felt their healthcare providers adequately explained screening options, though 28% (n=64) indicated that they needed to self-advocate for cancer screening. Additionally, 28% (n=60) reported not having access to necessary cancer support services. Overall, participants rated their care for HCS risk at an average of 7.8/10 (SD = 2.1) and coordination of care at 7.2/10 (SD = 2.31).

Conclusion:
While patients generally reported positive experiences with genetic testing and HCS care, preliminary findings underscore existing gaps in care. Future research will expand to a Canada-wide survey collection with comparisons across different health jurisdictions. This broader analysis will help healthcare providers and policymakers identify variations to access and guide the development of a high-quality equitable healthcare system that ensures comprehensive support for all HCS patients.

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