Germline testing and genetic counselling in prostate cancer.
Germline testing and genetic counselling in prostate cancer.
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DOI：
10.1038/s41585-022-00580-7
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发表时间：
2022-06
期刊：
影响因子：
--
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中科院分区：
文献类型：
--
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Genetic testing for prostate cancer is rapidly growing and is increasingly being driven by precision medicine. Rates of germline pathogenic variants have been reported in up to 15% of men with prostate cancer, particularly in metastatic disease, and results of genetic testing could uncover options for precision therapy along with a spectrum of hereditary cancer-predisposition syndromes with unique clinical features that have complex management options. Thus, the pre-test discussion, whether delivered by genetic counsellors or by health-care professionals in hybrid models, involves information on hereditary cancer risk, extent of gene testing, purpose of testing, medical history and family history, potential types of results, additional cancer risks that might be uncovered, genetically based management and effect on families. Understanding precision medicine, personalized cancer risk management and syndrome-related cancer risk management is important in order to develop collaborative strategies with genetic counselling for optimal care of patients and their families. In this Review, Russo and Giri describe and discuss germline testing criteria, genetic testing strategies, genetically informed screening, precision management, delivery of genetic counselling or alternative genetic services and special considerations for men with prostate cancer. Germline (hereditary) genetic testing is rising in importance for treatment, screening and risk assessment of prostate cancer. Multiple hereditary cancer syndromes might be associated with prostate cancer, might confer risk of other cancerous and non-cancerous conditions, and can have hereditary cancer implications for family members. The rates of these syndromes can vary based upon the attributed genetic mutations. Multiple aspects of germline testing should be discussed in the pre-test setting for men to make an informed decision, including the purpose of genetic testing, the benefits and risks of testing, hereditary cancer risk, identification of additional cancer risks, familial implications and the state of genetic discrimination protections. Genetic evaluation can be conducted by genetic counsellors or a hybrid model can be employed, in which health-care providers deliver pre-test informed consent for testing, order testing and then determine referral to genetic counselling for appropriate patients. Precision medicine is increasingly driving decisions for germline testing. Poly(ADP-ribose) polymerase (PARP) inhibitors, immune checkpoint inhibitors and various other agents now in clinical trials have clinical activity in patients with certain hereditary cancer gene mutations, such as in DNA repair genes. Patients’ experiences with germline testing can be variable; taking the patient’s current experience into account, considering referral to genetic counselling when needed and offering germline testing for eligible men at repeated intervals if initially declined are important.
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DOI：
10.1097/01.naj.0000348607.31983.6e
发表时间：
2009-04
期刊：
The American journal of nursing
影响因子：
--
作者：
Gallo AM;Angst DB;Knafl KA
通讯作者：
Knafl KA
DOI：
10.1056/nejmoa1110000
发表时间：
2012-01-12
期刊：
The New England journal of medicine
影响因子：
--
作者：
Ewing CM;Ray AM;Lange EM;Zuhlke KA;Robbins CM;Tembe WD;Wiley KE;Isaacs SD;Johng D;Wang Y;Bizon C;Yan G;Gielzak M;Partin AW;Shanmugam V;Izatt T;Sinari S;Craig DW;Zheng SL;Walsh PC;Montie JE;Xu J;Carpten JD;Isaacs WB;Cooney KA
通讯作者：
Cooney KA
影响因子：
8.8
作者：
Akbari, M. R.;Wallis, C. J. D.;Nam, R. K.
通讯作者：
Nam, R. K.
影响因子：
8.8
作者：
Dominguez-Valentin, Mev;Sampson, Julian R.;Moller, Pal
通讯作者：
Moller, Pal
影响因子：
8.8
作者：
Caswell-Jin, Jennifer L.;Gupta, Tanya;Kurian, Allison W.
通讯作者：
Kurian, Allison W.