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Abstract
Past
The accessibility of genetic testing for breast cancer patients has dramatically changed
over the past decade. In 2013, the Supreme Court ruled that genes were not patent
eligible, which led to an open market for the development of commercialized genetic
testing. In addition, the advent of next-generation sequencing has allowed for multigene
panels and more economical testing.
1
High penetrance genes for breast cancer increase the likelihood of developing breast
cancer by 5–20 times, and increased surveillance and management recommendations for
these patients may have a significant impact.
2
Therefore, it is imperative that high-risk patients undergo genetic testing. Despite
growing public awareness, increased availability of testing, and reduction in cost,
disparities persist in rates of genetic testing.
3
Present
To further understand what barriers exist that continue to impede uptake of genetic
testing, we evaluated the rates of genetic counseling attendance and genetic testing
for patients with a personal or family history of breast cancer. With an overall cohort
attendance rate of nearly 50%, we found that black patients were significantly less
likely to attend their genetic counseling appointment compared to white patients.
Having a positive family history of breast cancer was a significant predictive factor
for attendance regardless of race. Patients who were referred because of a significant
family history (without a personal history of breast cancer) or a benign breast diagnosis
were less likely to attend their counseling appointments. No socioeconomic factors
were found to impact attendance rate. Once patients attended their genetic counseling
appointment, 84% (n = 248) had genetic testing done. There were no significant factors
associated with receipt of genetic testing in multivariate analysis.
4
Future
Even with recent increases in genetic testing accessibility, we found that there continue
to be racial disparities in genetic counseling attendance. However, disparities in
genetic testing are not present once patients attend a genetic counseling appointment.
This disappearance of racial disparities may be secondary to the education that is
provided during the counseling appointment as the information provided may mitigate
barriers, such as lack of knowledge about genetic testing and fear of discrimination.
The barrier to the actual counseling appointment may be removed with point-of-care
testing. Previous research has shown that point-of-care testing significantly improves
rates of genetic testing,
5
as it removes the inconvenience of a second clinic visit. Future research studying
point-of-care genetic testing and utilizing open-ended questionnaires may help to
determine why some patients decline testing when known barriers are eliminated. The
use of artificial intelligence in areas with a paucity of genetic counselors and medical
providers may also off-set access barriers. We hope the results in the current study
help institutions to expand point-of-care testing to mitigate racial disparities and
bolster genetic testing rates for all patients.
A hereditary predisposition to breast cancer significantly influences screening and follow-up recommendations for high-risk women. However, in patients with a suggestive personal and/or family history, a specific predisposing gene is identified in <30% of cases. Up to 25% of hereditary cases are due to a mutation in one of the few identified rare, but highly penetrant genes (BRCA1, BRCA2, PTEN, TP53, CDH1, and STK11), which confer up to an 80% lifetime risk of breast cancer. An additional 2%-3% of cases are due to a mutation in a rare, moderate-penetrance gene (e.g. CHEK2, BRIP1, ATM, and PALB2), each associated with a twofold increase in risk. Prediction models suggest that there are unlikely to be additional yet to be identified high-penetrance genes. Investigation of common, low-penetrance alleles contributing to risk in a polygenic fashion has yielded a small number of suggestive single-nucleotide polymorphisms (SNPs), but the contributive risk of an individual SNP is quite small. Mutation testing is currently recommended for individual genes in the appropriate clinical setting where there is a high index of suspicion for a specific mutated gene or syndrome. Next-generation sequencing offers a new venue for risk assessment. At the present time, there are clear clinical guidelines for individuals with a mutation in a high-penetrance gene. Otherwise, standard models are used to predict an individual's lifetime risk by clinical and family history rather than genomic information.
Breast cancer (BC) disparities may widen with genomic advances. The authors compared non-Hispanic white (NHW), black, and Hispanic BC survivors for 1) cancer risk-management practices among BRCA carriers and 2) provider discussion and receipt of genetic testing.
Women with germline BRCA1 and BRCA2 mutations have five- to 20-fold increased risks of developing breast and ovarian cancer. A recent study claimed that women testing negative for their family-specific BRCA1 or BRCA2 mutation (noncarriers) have a five-fold increased risk of breast cancer. We estimated breast cancer risks for noncarriers by using a population-based sample of patients with breast cancer and their female first-degree relatives (FDRs).
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History
Date
received
: 14
May
2024
Date
accepted
: 15
May
2024
Funding
Funded by: Medical University of South Carolina
Open Access
:
Open access funding provided by the Carolinas Consortium.
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