Advocating for equitable management of hereditary cancer syndromes.

J Genet Couns

Advocate Lutheran General Hospital, Advocate Aurora Health, Park Ridge, USA.

Published: June 2022

The potential for preventive medicine to lead to more equitable health outcomes exists with the inclusion of genetic testing in medicine. Because of the medical implications of genetic testing for hereditary cancer syndromes and the financial cost attached to recommended management, ensuring equitable access to cancer screening and prevention must be made a priority. For patients with Hereditary Breast and Ovarian Cancer (HBOC) syndrome, the benefits of early detection and prevention are clear, significant, and create the opportunity to provide more equitable, personalized, preventive healthcare. Thus, for genetics providers who offer testing access for their patients, it is important to reflect on the ethical responsibility of advocating for access to appropriate management. Cancer genetic counselors can advocate for health equity by providing thorough pre-test genetic counseling, collaborating with other disciplines to coordinate care, lobbying state, and national representatives to pass legislation promoting health equity, and developing a management clinic that helps to ensure follow-up. Equitable access to and benefit from hereditary cancer risk management must be achieved in the pursuit of personalized preventive medicine.

Download full-text PDF

Source
http://dx.doi.org/10.1002/jgc4.1548DOI Listing

Publication Analysis

Top Keywords

hereditary cancer
12
cancer syndromes
8
preventive medicine
8
genetic testing
8
equitable access
8
personalized preventive
8
health equity
8
cancer
6
management
5
advocating equitable
4

Similar Publications

Early-onset colorectal cancer (CRC) has been on the rise since the start of the twenty-first century. While the etiology behind this increase remains unclear, the United States Preventive Services Task Force (USPSTF) has decreased the recommended age to begin screening for CRC to 45 years. This case report reviews the literature on CRC in the young population while presenting a case of a 21-year-old male with early-onset metastatic colorectal cancer without a hereditary etiology.

View Article and Find Full Text PDF

Unveiling a pathogenic gene variant in a Mexican family with Fanconi anemia through next‑generation sequencing.

Exp Ther Med

March 2025

Human Genetics Institute 'Dr Enrique Corona Rivera', Department of Molecular Biology and Genomics, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jalisco 44340, México.

Fanconi anemia (FA) is the most common hereditary bone marrow failure syndrome, with an incidence of 1 in 5,000,000. This disease is caused by an alteration in one of the 23 genes associated with the FA/BRCA DNA repair pathway, which is responsible for repairing interstrand bridges generated during homologous recombination. FA has been associated with a predisposition to other types of neoplasm.

View Article and Find Full Text PDF

Clinical integration of germline findings from a tumor testing precision medicine program.

BMC Cancer

January 2025

Department of Medicine, Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, University of Toronto, Toronto, ON, Canada.

Background: Integrating germline genetic testing (GGT) recommendations from tumor testing into hereditary cancer clinics and precision oncology trials presents challenges that require multidisciplinary expertise and infrastructure. While there have been advancements in standardizing molecular tumor boards, the implementation of tumor profiling for germline-focused assessments has only recently gained momentum. However, this progress remains inconsistent across institutions, largely owing to a lack of systematic approaches for managing these findings.

View Article and Find Full Text PDF

Background: von Hippel-Lindau (VHL) hereditary cancer syndrome is caused by mutations in the VHL tumor suppressor gene and is characterized by a predisposition to form various types of tumors, including renal cell carcinomas, hemangioblastomas, and pheochromocytomas. The protein products of the VHL gene, pVHL, are part of an ubiquitin ligase complex that tags hypoxia inducible factor alpha (HIF-α) for proteosomal degradation. pVHL has also been reported to bind to atypical protein kinase C (aPKC).

View Article and Find Full Text PDF

Lynch syndrome is the most common hereditary cancer predisposition, accounting for 1-5% of colorectal cancer cases, and is driven by germline mutations in DNA mismatch repair genes. Despite established diagnostic criteria, such as the Amsterdam guidelines, Lynch syndrome remains largely underdiagnosed. To address this gap, universal tumour screening has been introduced for all newly diagnosed cases of colorectal cancer and endometrial cancer, significantly improving early detection.

View Article and Find Full Text PDF

Want 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!