Mainstream germline genetic testing in men with metastatic prostate cancer: design and protocol for a multicenter observational study

被引：8

作者：

Vlaming, Michiel ^{[1
]}

Bleiker, Eveline M. A. ^{[2
,3
,4
]}

van Oort, Inge M. M. ^{[5
]}

Kiemeney, Lambertus A. L. M. ^{[5
,6
]}

Ausems, Margreet G. E. M. ^{[1
]}

机构：

[1] Univ Med Ctr Utrecht, Dept Genet, Div Labs Pharm & Biomed Genet, Heidelberglaan 100, NL-3584 CX Utrecht, Netherlands

[2] Netherlands Canc Inst, Div Psychosocial Res & Epidemiol, Plesmanlaan 121, NL-1066 CX Amsterdam, Netherlands

[3] Leiden Univ, Dept Clin Genet, Med Ctr, Albinusdreef 2, NL-2333 ZA Leiden, Netherlands

[4] Netherlands Canc Inst, Family Canc Clin, Plesmanlaan 121, NL-1066 CX Amsterdam, Netherlands

[5] Radboud Univ Nijmegen Med Ctr, Dept Urol, Geert Grooteplein Zuid 10, NL-6525 GA Nijmegen, Netherlands

[6] Radboud Univ Nijmegen Med Ctr, Dept Hlth Evidence, Geert Grooteplein Zuid 21, NL-6525 EZ Nijmegen, Netherlands

来源：

BMC CANCER | 2022年 / 22卷 / 01期

关键词：

Prostate cancer; Mainstream genetic testing; Genetic counseling; Germline genetic testing; OVARIAN-CANCER; HEALTH-PROFESSIONALS; BREAST-CANCER; MUTATIONS; BRCA1; RISK; VALIDATION; KNOWLEDGE; RELATIVES;

D O I：

10.1186/s12885-022-10429-2

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Background In international guidelines, germline genetic testing is recommended for patients with metastatic prostate cancer. Before undergoing germline genetic testing, these patients should receive pre-test counseling. In the standard genetic care pathway, pre-test counseling is provided by a healthcare professional of a genetics department. Because the number of patients with metastatic prostate cancer is large, the capacity in the genetics departments might be insufficient. Therefore, we aim to implement so-called mainstream genetic testing in the Netherlands for patients with metastatic prostate cancer. In a mainstream genetic testing pathway, non-genetic healthcare professionals discuss and order germline genetic testing. In our DISCOVER study, we will assess the experiences among patients and non-genetic healthcare professionals with this new pathway. MethodsA multicenter prospective observational cohort study will be conducted in 15 hospitals, in different regions of the Netherlands. We developed an online training module on genetics in prostate cancer and the counseling of patients. After completion of this module, non-genetic healthcare professionals will provide pre-test counseling and order germline genetic testing in metastatic prostate cancer patients. Both non-genetic healthcare professionals and patients receive three questionnaires. We will determine the experience with mainstream genetic testing, based on satisfaction and acceptability. Patients with a pathogenic germline variant will also be interviewed. We will determine the efficacy of the mainstreaming pathway, based on time investment for non-genetic healthcare professionals and the prevalence of pathogenic germline variants. DiscussionThis study is intended to be one of the largest studies on mainstream genetic testing in prostate cancer. The results of this study can improve the mainstream genetic testing pathway in patients with prostate cancer.

引用

页数：9

共 61 条

[1] Prospective Genomic Profiling of Prostate Cancer Across Disease States Reveals Germline and Somatic Alterations That May Affect Clinical Decision Making [J].

Abida, Wassim ;

Armenia, Joshua ;

Gopalan, Anuradha ;

Brennan, Ryan ;

Walsh, Michael ;

Barron, David ;

Danila, Daniel ;

Rathkopf, Dana ;

Morris, Michael ;

Slovin, Susan ;

McLaughlin, Brigit ;

Curtis, Kristen ;

Hyman, David M. ;

Durack, Jeremy C. ;

Solomon, Stephen B. ;

Arcila, Maria E. ;

Zehir, Ahmet ;

Syed, Aijazuddin ;

Gao, Jianjiong ;

Chakravarty, Debyani ;

Vargas, Hebert Alberto ;

Robson, Mark E. ;

Vijai, Joseph ;

Offit, Kenneth ;

Donoghue, Mark T. A. ;

Abeshouse, Adam A. ;

Kundra, Ritika ;

Heins, Zachary J. ;

Penson, Alexander V. ;

Harris, Christopher ;

Taylor, Barry S. ;

Ladanyi, Marc ;

Mandelker, Diana ;

Zhang, Liying ;

Reuter, Victor E. ;

Kantoff, Philip W. ;

Solit, David B. ;

Berger, Michael F. ;

Sawyers, Charles L. ;

Schultz, Nikolaus ;

Scher, Howard I. .

JCO PRECISION ONCOLOGY, 2017, 1 :1-26

[2]

[Anonymous], SEER CANC STAT FACTS

[3]

[Anonymous], 2021, Prostate Cancer

[4] Average risks of breast and ovarian cancer associated with BRCA1 or BRCA2 mutations detected in case series unselected for family history:: A combined analysis of 22 studies [J].

Antoniou, A ;

Pharoah, PDP ;

Narod, S ;

Risch, HA ;

Eyfjord, JE ;

Hopper, JL ;

Loman, N ;

Olsson, H ;

Johannsson, O ;

Borg, Å ;

Pasini, B ;

Radice, P ;

Manoukian, S ;

Eccles, DM ;

Tang, N ;

Olah, E ;

Anton-Culver, H ;

Warner, E ;

Lubinski, J ;

Gronwald, J ;

Gorski, B ;

Tulinius, H ;

Thorlacius, S ;

Eerola, H ;

Nevanlinna, H ;

Syrjäkoski, K ;

Kallioniemi, OP ;

Thompson, D ;

Evans, C ;

Peto, J ;

Lalloo, F ;

Evans, DG ;

Easton, DF .

AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 72 (05) :1117-1130

[5] The Feasibility of Implementing Mainstream Germline Genetic Testing in Routine Cancer Care-A Systematic Review [J].

Bokkers, Kyra ;

Vlaming, Michiel ;

Engelhardt, Ellen G. ;

Zweemer, Ronald P. ;

van Oort, Inge M. ;

Kiemeney, Lambertus A. L. M. ;

Bleiker, Eveline M. A. ;

Ausems, Margreet G. E. M. .

CANCERS, 2022, 14 (04)

[6] Positive experiences of healthcare professionals with a mainstreaming approach of germline genetic testing for women with ovarian cancer [J].

Bokkers, Kyra ;

Zweemer, Ronald P. ;

Koudijs, Marco J. ;

Stehouwer, Sanne ;

Velthuizen, Mary E. ;

Bleiker, Eveline M. A. ;

Ausems, Margreet G. E. M. .

FAMILIAL CANCER, 2022, 21 (03) :295-304

[7] Pathogenic Germline DNA Repair Gene and HOXB13 Mutations in Men With Metastatic Prostate Cancer [J].

Boyle, Julie L. ;

Hahn, Andrew W. ;

Kapron, Ashley L. ;

Kohlmann, Wendy ;

Greenberg, Samantha E. ;

Parnell, Timothy J. ;

Teerlink, Craig C. ;

Maughan, Benjamin L. ;

Feng, Bing-Jian ;

Cannon-Albright, Lisa ;

Agarwal, Neeraj ;

Cooney, Kathleen A. .

JCO PRECISION ONCOLOGY, 2020, 4 :139-151

[8] Validation of a decision regret scale [J].

Brehaut, JC ;

O'Connor, AM ;

Wood, TJ ;

Hack, TF ;

Siminoff, L ;

Gordon, E ;

Feldman-Stewart, D .

MEDICAL DECISION MAKING, 2003, 23 (04) :281-292

[9] Metastatic Prostate Cancer Incidence and Prostate-specific Antigen Testing: New Insights from the European Randomized Study of Screening for Prostate Cancer [J].

Buzzoni, Carlotta ;

Auvinen, Anssi ;

Roobol, Monique J. ;

Carlsson, Sigrid ;

Moss, Sue M. ;

Puliti, Donella ;

de Koning, Harry J. ;

Bangma, Chris H. ;

Denis, Louis J. ;

Kwiatkowski, Maciej ;

Lujan, Marcos ;

Nelen, Vera ;

Paez, Alvaro ;

Randazzo, Marco ;

Rebillard, Xavier ;

Tammela, Teuvo L. J. ;

Villers, Arnauld ;

Hugosson, Jonas ;

Schroder, Fritz H. ;

Zappa, Marco .

EUROPEAN UROLOGY, 2015, 68 (05) :885-890

[10] Risk-reducing mastectomy for the prevention of primary breast cancer [J].

Carbine, Nora E. ;

Lostumbo, Liz ;

Wallace, Judi ;

Ko, Henry .

COCHRANE DATABASE OF SYSTEMATIC REVIEWS, 2018, (04)

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