Genetic Testing for All: Overcoming Disparities in Ovarian Cancer Genetic Testing

Abstract

Nearly 3% of the population carries genetic variants that lead to conditions that include hereditary breast and ovarian cancer and Lynch syndrome. These pathogenic variants account for approximately 20% of ovarian cancer cases, and those with germline pathogenic variants have an odds ratio between 4 and 40 for developing ovarian cancer compared with noncarriers. Given the high prevalence of genetic variants, multiple organizations, including ASCO, recommend universal genetic counseling and testing for women diagnosed with epithelial ovarian cancer. Unfortunately, most individuals with a hereditary ovarian cancer syndrome are unaware of their underlying mutation, and racial and ethnic minority individuals as well as patients of low socioeconomic status experience disproportionate rates of underrecognition, leading to late and missed diagnoses. In this article, we review the current understanding of disparities in genetic testing for people with ovarian cancer, the role of population-based genetic testing, and innovative strategies to overcome the critical inequities present in current cancer genetic medicine. Underuse and disparities related to accessing recommended genetic services are complex and multifactorial, requiring improvements in processes related to provider identification, genetic counseling and testing referral, and patient uptake/adherence. Through the expansion of remote genetic counseling, offering online strategies for genetic testing, and reaching at-risk relatives through direct relative contact cascade testing and population-based genetic testing, there are a growing number of innovations in the field of genetic medicine, many of which emphasize health equity and offer promising alternatives to the current paradigm of genetic testing.

What happens in the long term: Uptake of cancer surveillance and prevention strategies among at‐risk relatives with pathogenic variants detected via cascade testing

“…Similarly, we cannot assess any perceptions of intrusion or violation of privacy, as those relatives feeling this way did not provide follow‐up data. Prior literature suggests racial and ethnic disparities in genetic medicine 40–45 . Although our results did not demonstrate disparities, this was a small feasibility trial without a control arm and with limited racial and ethnic diversity.…”

What can we learn from more than 1,000 Brazilian patients at risk of hereditary cancer?

“…In Brazil and other low- or middle-income countries, the socioeconomic barrier impact health care access. Despite the worldwide advocacy for broad genetic testing access ( 49 , 50 ), uninsured patients remain a concern. Providing access to genetic testing without assurance of all subsequent preventive and treatment opportunities may bring more harm than benefit ( 37 ).…”

Attitudes towards and sociodemographic determinants of genetic test usage in the USA; data from the Health Information National Trend Survey, 2020

“…Prior research has shown vast increases in the rates of BRCA1/2 testing, partially due to media attention and public awareness campaigns in the past decade (Chen et al, 2018;Martin et al, 2019). Increases in testing, however, persisted among higher income individuals, and many who are at high risk for cancer are still underutilizing clinical testing (Frey et al, 2022;Levy et al, 2011).…”