Report on the Effect of the Implementation of an Early Detection and Prevention of Cancer Program on Families at High Hereditary Risk-Concentrating on Patients Undergoing Genetic Diagnostics and Counseling in Central Poland.
Tadeusz KałużewskiIzabela KubiakMichał BednarekJordan SałamuniaDorota KucharskaŁukasz KępczyńskiMarek StempieńTobiasz KubickiRadzisław TrzcińskiZofia Gordon-SönmezAnna Bartosińska-DycAgnieszka GachBogdan KałużewskiPublished in: International journal of molecular sciences (2023)
Over a 46-month period, the objectives of the National Cancer Control Program (NCCP, pol. Narodowy Program Zwalczania Chorób Nowotworowych), coordinated by the Ministry of Health, were pursued by conducting genetic diagnostics on individuals at high risk of developing cancer. A total of 1097 individuals were enrolled in the study, leading to the identification of 128 cases of germline mutations. The implementation of the NCCP led to the identification of genetic mutations in 4.43% of the patients qualified for BRCA1 and BRCA2 screening tests, in 18.18% of those qualified for a comprehensive next-generation sequencing (NGS) panel in cases of breast and ovarian cancer, and in 17.36% of cases of colorectal and endometrial cancer. The research conducted allowed us to establish individualized preventive and therapeutic approaches for mutation carriers. However, the results prove that liberalizing the inclusion criteria for high-throughput diagnostics and the use of broad gene panels could significantly increase the percentage of detected carriers. This publication serves as a summary and discussion of the results obtained from the implementation of the NCCP as well as of the role of genetic consulting in personalized medicine.
Keyphrases
- copy number
- quality improvement
- genome wide
- healthcare
- endometrial cancer
- primary care
- high throughput
- patients undergoing
- papillary thyroid
- end stage renal disease
- ejection fraction
- squamous cell
- dna methylation
- newly diagnosed
- squamous cell carcinoma
- gene expression
- peritoneal dialysis
- young adults
- breast cancer risk
- health information
- oxidative stress
- men who have sex with men
- transcription factor
- hiv testing
- antiretroviral therapy