Uptake of genetic counseling and testing in a clinic‐based population of women with breast cancer

Abstract

Background The study was conducted to evaluate racial differences in referral and uptake of genetic counseling (GC) in a clinic‐based population of women with breast cancer. Methods Medical records of 150 breast cancer patients at the Karmanos Cancer Institute were reviewed to determine eligibility for GC according to National Comprehensive Cancer Network guidelines, GC referral rates, and appointment completion rates. Logistic regression was used to assess the relationship between demographic and clinical factors and GC eligibility and referral. Results The mean age at diagnosis was 57.1 (SD 12.6) and 66% of the women were Black. There were 91 women (60.7%) eligible for GC and of those, 54 (61.4%) were referred. After multivariable analyses, factors associated with reduced eligibility were older age at diagnosis (OR = 0.91, 95% CI [0.87,0.95]) and Black race (OR = 0.37, 95% CI [0.15, 0.96]). After additional multivariable analysis, eligibility was associated with an increased likelihood of referral (OR = 5.97, 95% CI [2.29, 15.56]), however, Medicare versus private insurance was associated with a lower likelihood for referral (OR = 0.32, 95% CI [0.12–0.80]. Of those referred, 49 (76.6%) completed an appointment, and 47 had genetic testing. Women with Medicare were also less likely to complete an appointment. Race had no impact on referral or appointment completion. Conclusions There were no racial differences in GC referral or appointment completion in a clinic‐based sample of women with breast cancer. Further interventions are needed to promote increased referral and appointment completion for women with breast cancer who are eligible for GC.

Psychosocial factors impacting barriers and motivators to cancer genetic testing

“…Patients were asked to report all primary cancer types, date of cancer diagnosis, treatment received, and genetic testing status. The PHQ-4 was used to measure anxiety and depression; respondents scores were dichotomized by either none (0-2) or mild to severe (3)(4)(5)(6)(7)(8)(9)(10)(11)(12). 25 As part of the survey, participants were asked if they had undergone cancer genetic testing.…”

“… 3 , 4 Another study found that among women with breast cancer who qualify for genetic testing per NCCN guidelines, only about 60% were referred and about 46% completed testing indicating that despite a referral, there is still a reduction of uptake in germline testing. 5 Patients at risk for Lynch Syndrome diagnosed with either colorectal or endometrial cancer have even lower levels of testing with one study reporting a rate around 6% and another study reporting a rate around 3%. 6 , 7 Germline genetic testing for patients with cancer can have significant impact on their cancer treatment and surveillance as well as implications for family members.…”

“…Fewer than 20% of breast and ovarian cancer patients who qualify for testing based on NCCN guidelines receive testing 3,4 . Another study found that among women with breast cancer who qualify for genetic testing per NCCN guidelines, only about 60% were referred and about 46% completed testing indicating that despite a referral, there is still a reduction of uptake in germline testing 5 . Patients at risk for Lynch Syndrome diagnosed with either colorectal or endometrial cancer have even lower levels of testing with one study reporting a rate around 6% and another study reporting a rate around 3% 6,7 .…”

Disparities in Breast Cancer Care—How Factors Related to Prevention, Diagnosis, and Treatment Drive Inequity

“…Unfortunately, numerous barriers to genetic counseling and testing have been described. For example, publicly insured patients are less likely to undergo genetic counseling than those with private insurance [56]. Similarly, lower rates of genetic testing have been reported among racial and ethnic minorities, including Black women, who are significantly more likely to be diagnosed with early onset breast cancers [57].…”