Purpose: The role of germline genetic testing in breast cancer patients is crucial, especially in the setting of the recent trials showing the benefit of PARP inhibitors. The goal of this study was to identify racial disparities in genetic counseling and testing in patients with high-risk breast cancer.
Methods: Patients with 2 unique breast cancer diagnoses were examined to understand demographics, insurance coverage, characteristics of breast cancer, and whether they were recommended for and received genetic counseling and testing.
Results: A total of 69 patients with a dual diagnosis of breast cancer between the years 2000 and 2017 were identified (42% identified as White compared to 58% that identified as non-White). White patients were more likely to be recommended for genetic counseling (OR = 2.85; 95% CI, 1.07-7.93, P < .05), be referred for genetic counseling (OR = 3.17; 95% CI, 1.19-8.86, P < .05), receive counseling (OR = 3.82; 95% CI, 1.42-10.83, P < .01), and undergo genetic testing (OR = 2.88; 95% CI, 0.97-9.09, P = .056) compared to non-White patients. Patients with private insurance were significantly more likely to be recommended for genetic counseling (OR 5.63, P < .005), referred (OR 6.11, P < .005), receive counseling (OR 4.21, P < .05), and undergo testing (OR 4.10, P < .05). When controlled for insurance, there was no significant racial differences in the rates of GC recommendation, referral, counseling, or testing.
Conclusion: The findings of this study suggest that disparities in genetic counseling and testing are largely driven by differences in health insurance.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9526492 | PMC |
| http://dx.doi.org/10.1093/oncolo/oyac132 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
While telegenetic counseling has increased substantially since the start of the COVID-19 pandemic, previous studies reported concerns around building rapport, nonverbal communication, and the patient-counselor relationship. This qualitative evaluation elicited feedback from genetic counselors, referring clinicians, and patients from a single healthcare organization to understand the user-driven reasons for overall satisfaction and experience. We conducted 22 in-depth, semi-structured interviews with participants from all 3 groups between February 2022 and February 2023.
View Article and Find Full Text PDFA Novel Homozygous Mutation Causes Ovarian Dysgenesis and Primary Amenorrhea.
J Endocr Soc
January 2025
Division of Pediatric Endocrinology, Hadassah Medical Center, Jerusalem 91240, Israel.
Context: Despite a growing number of studies, the genetic etiology in many cases of ovarian dysgenesis is incompletely understood.
Objectives: This work aimed to study the genetic etiology causing absence of spontaneous pubertal development, hypergonadotropic hypogonadism, and primary amenorrhea in 2 sisters.
Methods: Whole-exome sequencing was performed on DNA extracted from peripheral lymphocytes of 2 Palestinian sisters born to consanguineous parents.
Analysis of fetal fraction in non-invasive prenatal testing with low-depth whole genome sequencing.
Heliyon
January 2025
Molecular Diagnosis Center, Affiliated Qingyuan Hospital, Guangzhou Medical University (Qingyuan People's Hospital), 511518, Qingyuan, China.
Background: The fetal fraction (FF) is a critical factor influencing the performance of non-invasive prenatal testing (NIPT). Different NIPT methods and sequencing depths can lead to distinct minimum FF thresholds for Trisomy 21 (T21). This study aims to analyze the minimum FF thresholds for detecting T21 in PCR-free NIPT using a low-depth whole genome sequencing method.
View Article and Find Full Text PDFDiagnostic Challenge of Phenotypic Variability in COL2A1-Related Disorders: Four Novel Variants and Expanding the Clinical Spectrum.
J Clin Res Pediatr Endocrinol
January 2025
Department of Pediatric Endocrinology, Umraniye Training and Research Hospital, Istanbul, Türkiye.
Objective: Heterozygous COL2A1 gene mutations are associated with type 2 collagenopathies, characterized by a wide, diverse, and overlapping clinical spectrum in related diseases. Our goal is to describe the clinical, radiological, and molecular findings of patients with COL2A1-related dysplasia and investigate the phenotype-genotype correlation. We also aim to emphasize the challenge of categorizing COL2A1-related diseases with similar clinical and radiological phenotypes.
View Article and Find Full Text PDFCompound heterozygous TMEM67 biallelic variants including a novel frameshift mutation in two Filipino adolescent siblings with Joubert syndrome.
J Neural Transm (Vienna)
January 2025
Section of Adult Neurology, Department of Internal Medicine, Chong Hua Hospital, Fuente, Cebu, Philippines.
Joubert Syndrome (JS) is a congenital cerebellar ataxia typically inherited in an autosomal recessive pattern, although rare X-linked inheritance can occur. It is characterized by hypotonia evolving into ataxia, global developmental delay, oculomotor apraxia, breathing dysregulation, and multiorgan involvement. To date, there are 40 causative genes implicated in JS, all of which encode proteins of the primary cilium.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!