A state‐wide initiative to promote genetic testing in an underserved population

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.

Delays in diagnosis of Duchenne muscular dystrophy: An evaluation of genotypic and sociodemographic factors

“…Other studies demonstrated health inequalities for patients from high‐poverty neighborhoods . These inequalities may be amplified in rare genetic diseases, as access to subspecialty care and genetic testing may be challenging for low‐income patients …”

Out‐of‐pocket and private pay in clinical genetic testing: A scoping review

“…Following resolution of any discrepancies between reviewers, 83 publications were included in the final review (ordered alphabetically by primary author in Table 1). 8–90 A flow diagram tracking the number of studies at each stage of the selection process is presented in Figure 1.…”

“…Of the eighty‐three publications included in the review (Table 1), 8–90 seventy‐five (90.4%) were published since 2010 inclusive, and 48 (57.8%) since 2016 inclusive (Figure 2). The majority of studies were carried out in the United States ( n = 66; 79.5%), followed by the United Kingdom ( n = 5; 6.0%), Canada ( n = 3; 3.6%), and Australia ( n = 2; 2.4%) (Figure S1).…”

“…Ten studies focused on hereditary cancers other than breast and ovarian. [28][29][30][31][32][33][34][35][36][37]…”

Points to consider to avoid unfair discrimination and the misuse of genetic information: A statement of the American College of Medical Genetics and Genomics (ACMG)

“…21 Racial and ethnic minorities are among the underserved populations for genetic services in the United States. These populations have reduced access to genetic testing, 22 and medical mistrust results in underutilization of genetic counseling and testing. [23][24][25][26] As a result of this history, genetic databases are largely composed of individuals of European ancestry.…”