How to structure an oncogenetics service for the public health system: Report of the implementation of the first service in Northeastern Brazil

• Published in: Cancer genetics Vol. 250-251; pp. 6 - 11
• Main Authors: Nogueira, Camila Sampaio, Silva-Fernandes, Isabelle Joyce de Lima, de Albuquerque, Clarissa Gondim Picanço, Oliveira, Francisca Fernanda Barbosa, Wong, Deysi Viviana Tenazoa, Silva, Paulo Goberlânio de Barros, Bitencourt, Flávio da Silveira, Lima, Marcos Venício Alves
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01-01-2021
• Subjects: Breast neoplasms; Colorectal neoplasms; Lynch syndrome; Mutagenicity testing; Ovarian neoplasms; Breast neoplasms; Colorectal neoplasms; Mutagenicity testing; Ovarian neoplasms; Lynch syndrome
• ISSN: 2210-7762; 2210-7770
• DOI: 10.1016/j.cancergen.2020.11.002

Identifying carriers of genetic mutations that increase the risk of developing cancer allows to adopt timely risk-reducing strategies. However, due to the elevated cost of genetic testing, few oncogenetics services are available in the Brazilian public health care system, especially in economically disadvantaged areas.
To describe the implementation of an oncogenetics service for patients suspected of hereditary cancer syndromes (HBOC and HNPCC) at a philanthropic referral oncology hospital in Northeastern Brazil, funded by the Ministry of Health's National Oncology Care Support Program (PRONON).
The service was implemented with the PDCA method (Plan, Do, Check and Act).
During the first year of operation (starting in August 2018), 675 individuals were examined, of whom 272 patients and 98 family members were submitted to genetic testing. This included the collection of 338 DNA samples of which 300 were sequenced. The analysis identified 48 (17.1%) mutations for HBOC and 19 (6.8%) for HNPCC.
In one year, the oncogenetics service was able to benefit over 300 families by generating advanced molecular data which may be used for tailoring cancer prevention and management.