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

Am Soc Clin Oncol Educ Book

Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Weill Cornell Medicine, New York, NY.

Published: April 2022


Category Ranking

98%

Total Visits

921

Avg Visit Duration

2 minutes

Citations

20

Article 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.

Download full-text PDF

Source
http://dx.doi.org/10.1200/EDBK_350292DOI Listing

Publication Analysis

Top Keywords

genetic testing
28
ovarian cancer
28
genetic
15
genetic counseling
12
testing
9
cancer
8
cancer genetic
8
genetic variants
8
pathogenic variants
8
counseling testing
8

Similar Publications

Background: Pheochromocytomas and paragangliomas (PPGLs) are rare catecholamine-secreting neuroendocrine tumors originating from the embryonic neural crest. Approximately 30% of PPGLs are hereditary and are frequently associated with genetic syndromes, including neurofibromatosis type 1 (NF1). Composite PPGLs, which include components of both PPGLs and related tumors such as ganglioneuromas, are extremely rare in NF1 patients.

View Article and Find Full Text PDF

Objectives: Complement factor I (CFI) deficiency is a rare condition that can present with fulminant relapsing CNS autoinflammation. In this report, we highlight the utility of genetic testing in unexplained CNS autoinflammation.

Methods: This case report describes a young adult with partial CFI deficiency, presenting with acute hemorrhagic leukoencephalitis and longitudinally extensive transverse myelitis.

View Article and Find Full Text PDF

Rapid detection of carbapenemases in multiresistant Gram-negative strains: evaluation of two tests.

Microbiol Spectr

September 2025

Institute for Medical Laboratory Diagnostics, Helios University Hospital, Witten/Herdecke University, Wuppertal, Germany.

Carbapenem-resistant organisms (CRO) have rapidly spread worldwide in recent years, posing a significant challenge to both human health and healthcare systems. Timely and accurate detection of CRO, especially carbapenemase-producing and non-fermenters, is crucial for clinical prevention and treatment of these infections. In the present study, we subjected more than 114 multidrug-resistant Gram-negative and non-fermenters to two tests for the timely detection of carbapenemases.

View Article and Find Full Text PDF

Purpose: Advancements in sequencing technologies have significantly improved clinical genetic testing, yet the diagnostic yield remains around 30-40%. Emerging technologies are now being deployed to address the remaining diagnostic gap.

Methods: We tested whether short-read genome sequencing could increase the diagnostic yield in individuals enrolled into the UCI-GREGoR research study, who had suspected Mendelian conditions and prior inconclusive testing.

View Article and Find Full Text PDF

Unlabelled: This report provides a detailed analysis of a singular case involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in a male patient who suffered a stroke. Our investigation delves into the clinical manifestations, genetic foundations, diagnostic complexities, and prognosis associated with CADASIL. As a notable contributor to stroke occurrence in young patients, CADASIL's impact on morbidity and mortality is influenced by stroke-related complications and cognitive decline.

View Article and Find Full Text PDF