Screening for Individuals at Risk for Hereditary Breast and Ovarian Cancer: A Statewide Initiative, Georgia, 2012–2020

Abstract

Georgia implemented a statewide family history screening program for hereditary breast and ovarian cancer. From November 2012 through December 2020, 29 090 individuals were screened, 16 679 of whom (57.3%) self-identified as a racial/ethnic minority. Of the 4% (1172/29 090) of individuals who screened as high risk, more than half underwent genetic consultation (793/1172; 67.7%) and testing (416/589; 70.6%). Compared with White women, Black and Hispanic women had higher uptake rates of genetic consultation. Public health settings serving racial minorities are well suited to address disparities in genetic service access. (Am J Public Health. 2022;112(9):1249–1252. https://doi.org/10.2105/AJPH.2022.306932)

Brief family history-based screening, endorsed by national guidelines (e.g., United States Preventive Services Task Force) and public health organizations (e.g., Centers for Disease Control and Prevention [CDC] Tier 1), is a frontline public health approach used to identify individuals at risk for hereditary breast and ovarian cancer (HBOC) syndrome. Georgia has been a trailblazer in this field since 2012, implementing a statewide program of HBOC family history-based screening in public health districts serving ethnically diverse and medically underserved areas. ^{1, 2} The Georgia Center for Oncology Research and Education (Georgia CORE)/Georgia Department of Public Health (GDPH) Breast Cancer Genomics Program was funded by the CDC from 2011 to 2014 to “develop or enhance activities related to promotion of breast cancer genomics.” ^1(p3343) Since 2014, the screening program has continued with funding from the GDPH.

INTERVENTION AND IMPLEMENTATION

The Women’s Health section of the GDPH operates the family history screening program through public health clinics across the state. All public health clinics (n = 187) received training to conduct family history screening using B-RST version 2.0. ³ However, not all clinics implemented the program because of limitations in staffing and differences in priorities. From January 1, 2012, to December 31, 2020, 81 of 187 public health clinics in Georgia implemented the screening program. The program has reached women in 75 of 159 counties (47%) in Georgia, and 69 of these 75 counties are considered medically underserved areas. ^{4, 5}

Women with scheduled visits at a participating public health clinic completed the family history screening as part of the intake assessment. For positive high-risk screening results, nursing staff informed the client of the genetic consultation no-cost service through referral to the Georgia CORE advanced practice nurse in genetics (APNG). Women who screened negative-low or moderate risk were referred to the APNG only at their request or nursing staff recommendation based on family history. Clients were counseled in person or by phone for risk assessment and determination of testing eligibility. If found eligible for testing, the APNG coordinated saliva or blood collection. Test results were provided directly to the client and public health providers. If a client was found to have a clinically significant mutation in BRCA1 or BRCA2 or another deleterious mutation, referrals were made to a local breast specialist for discussion of options regarding management options: surveillance, chemoprevention, or risk reduction surgery. After May 2020, the program shifted to a telehealth format with remote genetic services in response to pandemic restrictions.

PLACE, TIME, AND PERSONS

Women aged 18 years and older who visited a public health clinic for women’s health services (e.g., breast cancer screening, family planning, perinatal and sexually transmitted disease services) between November 2012 and December 2020 were eligible to participate. Most women were living at or below 200% of the US Department of Health and Human Services federal poverty level. According to the definitions used by the State Office of Rural Health, there are 149 counties in Georgia deemed medically underserved areas, meaning areas that have a shortage of primary care services. ^{4, 5} Because people who live in these 149 counties make up 71.3% of Georgia’s population, most of our target population is considered medically underserved. ^{4, 5}

PURPOSE

Little empirical work has been conducted outside high-resourced specialty clinics to increase uptake of cancer genetic services. ⁶ This is especially critical for those least likely to have access to cancer prevention, including racial/ethnic minorities, those who live in rural settings, and those who have low education and income. ⁷ A growing number of studies show that Black women are at greater risk than White women of developing aggressive breast cancers (often linked to genetic mutations) at a younger age and dying. ^{8, 9} However, Black women are significantly less likely to be referred for cancer genetic services—and to seek them—than White women. ^{10, 11} Recent evidence suggests that family history–based screening programs implemented in public health settings are effective when partnered with programs already serving vulnerable populations. ⁶ Therefore, we evaluated the uptake of family history screening, consultation, and testing among underserved women throughout the state and examined racial differences in the use of these genetic services.

EVALUATION AND ADVERSE EFFECTS

To describe the extent to which the program was successful in expanding the reach of genetic services, we measured three outcome variables: uptake of family history screening, genetic consultation, and genetic testing.

Family History Screening Uptake

From November 2012 through December 2020, 29 090 women completed the family history screening tool, with 26 938 women providing their race/ethnicity (Table 1). Among these women, 61.9% self-identified as a racial/ethnic minority (n = 16 679).

TABLE 1—

Uptake of Family Cancer History Screening, Genetic Consultation, and Genetic Testing: Georgia, November 2012–December 2020

Study Population	Uptake of Family History Screening: No. Screened	Uptake of Genetic Consultation			Uptake of Genetic Testing
No. Eligible	No. Completed (%)	P a	No. Eligible	No. Completed (%)	P a
Total	29 090b	1 172	793 (67.7)		589	416 (70.6)
White (Ref)	9 640	656	414 (63.1)		320	221 (69.1)
Black	11 770	350	259 (74.0)	< .001	174	122 (70.1)	.91
Hispanic	4 473	155	113 (72.9)	.028	87	70 (80.5)	.037
Otherc	436	11	7 (63.6)	.8	8	3 (42.9)	.12

Note. Family history screening uptake = the number of individuals who completed genetic risk screening divided by the total number of women in Georgia living at or below 200% of the federal poverty level); genetic consultation uptake = the number of individuals who completed genetic consultation divided by the number of individuals identified to be at high genetic risk for hereditary breast and ovarian cancer; genetic testing uptake = the number of individuals who completed genetic testing divided by those who were recommended to undergo testing.

^a P values are for pairwise comparisons between races. White clients acted as the reference group for the analysis.

^b Of the 29 090 women that completed family history screening, 26 938 (92.6%) provided their self-identified race.

^c Other = American Indian/Native American, Asian, Native Hawaiian/Pacific Islander, and others.

Genetic Consultation Uptake

In total, 1579 clients were referred to Georgia CORE for genetic counseling based on their positive B-RST screen results (n = 1460) or on the clinical judgment of providers based on family history (n = 119). Of these 1579 individuals, 1172 provided their racial/ethnic identity, 793 of whom (67.7%) underwent genetic consultation.

Genetic Testing Uptake

Uptake of genetic testing among high-risk individuals was high. Of the 793 clients who received genetic counseling, 589 (74.3%) were appropriate for genetic testing based on National Comprehensive Cancer Network guidelines, and 416 of these 589 women (70.6%) completed testing. In total, 32 women (7.7%) who completed testing were identified as carrying a deleterious mutation associated with HBOC syndrome.

Racial Differences in Genetic Services Uptake

Black women and Hispanic women had statistically significant higher uptake rates of genetic consultation than White women (P < .05 after Bonferroni multiple comparison correction; Table 1).

Impact of COVID on Genetic Services Uptake

Since May 2020, the program has transitioned to a telehealth model in response to pandemic restrictions. Compared with the period November 2012 through May 2020, we observed an increase in the uptake of genetic consultation (from 753/1132 [66.5%] to 40/40 [100%]) and genetic testing (from 380/551 [69.0%] to 35/38 [92.1%]) in the period May to December 2020.

SUSTAINABILITY

Georgia’s statewide screening program increased the utilization of genetic services in racial/ethnic minority and medically underserved communities. It is notable that the transition to a telehealth service model because of the COVID-19 pandemic increased uptake of genetic consultation. The shift to telehealth made the program more accessible to those living in medically underserved areas and addressed logistical barriers associated with in-clinic visits (e.g., transportation, work schedules, and finding child care). Implementation of a telehealth or hybrid model may increase program scalability and sustainability. Despite its potential, the reach of this screening program remains low. A very conservative estimate based on the US Census Small Area Health Insurance Estimates survey shows that uptake of family history screening could be as low as 2.5% of all age-eligible women across the state. The program has one APNG for all referrals. Thoughtful consideration of sustainable approaches to expanding screening is needed.

PUBLIC HEALTH SIGNIFICANCE

Improving access to cancer genetic services in racial/ethnic minority groups and medically underserved areas is an increasingly important undertaking, as evidenced by numerous regional and state initiatives. Our program presents an effective and sustainable outreach approach to promote the population-level reach of cancer genetic services, increasing the likelihood of fair distribution of advances in genomic technology. Increasing the number and diversity of people who have access to cancer genetic services requires adaptation of risk communications for those with limited health literacy. The study findings will inform a systematic evaluation with public health services across Georgia to provide insights on organizational capacity, barriers and facilitators to program implementation, and strategies to promote sustainable expansion of genetic services across the state.