Abstract
Genetic testing for cancer susceptibility has been widely studied and utilized clinically. Access to genetic services in research and practice is largely limited to well‐insured, Caucasian individuals. In 2009, the Cancer Resource Foundation (CRF) implemented the Genetic Information for Treatment Surveillance and Support (GIFTSS) program to cover the out‐of‐pocket expenses associated with cancer genetic testing, targeting high‐risk individuals with limited financial means and limited health insurance coverage. Here, we (i) describe the characteristics of participants in the Massachusetts (MA) GIFTSS program and (ii) evaluate mutations found in this diverse sample. A secondary retrospective data analysis was performed using de‐identified demographic data obtained from laboratory requisition forms and cancer genetic testing result information from the laboratory source. Eligible participants were those who utilized the MA GIFFTS program from 2009 through December of 2014. Data were summarized using descriptive measures of central tendency. Participants were residents of Massachusetts who had health insurance and had a reported income within 250–400% of the federal poverty level. Genetic testing results were categorized following clinical guidelines. Overall, 123 (13%) of participants tested positive for a mutation in a cancer susceptibility gene. For those with a cancer diagnosis, 65 (12%) were found to have a positive result and 20 (7%) had a variant of uncertain significance (VUS). For those unaffected patients, 58 (15%) had a positive result and 10 (3%) were found to have a VUS. The results from this study are useful in describing genetic testing outcomes in this high‐risk underserved community. Repeatedly, the literature reports that individuals from diverse or limited resource settings are less likely to access genetic testing. Continued research efforts should be devoted to promoting the access of genetic testing in the high‐risk, underserved community.
Highlights
Results from cancer predisposition genetic testing are an important component of holistic cancer care and can inform treatment, diagnostic, surveillance, and preventative health recommendations [1, 2]
All minors were tested for mutations in the APC gene due to risk for Familial Adenomatous Polyposis, which is clinically indicated as standard of care [2, 10]
Our findings demonstrate that genetic testing can provide valuable information within this community and to reach equitable genetics care, reducing barriers to accessing genetic testing should be addressed
Summary
Results from cancer predisposition genetic testing are an important component of holistic cancer care and can inform treatment, diagnostic, surveillance, and preventative health recommendations [1, 2]. Patient experience and outcomes of cancer predisposition genetic testing has been widely studied, but is largely limited to well-insured, Caucasian populations with easy access to genetic counseling and testing services. Information pertaining to underserved communities is limited. Underserved communities include individuals with limited financial means, and low-socioeconomic status, who may be racial or ethnic minorities and face barriers to genetic testing services.
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