Uptake of Cascade Genetic Testing for Hereditary Breast and Ovarian Cancer: A Systematic Review and Meta-Analysis.
Journal
Clinical obstetrics and gynecology
ISSN: 1532-5520
Titre abrégé: Clin Obstet Gynecol
Pays: United States
ID NLM: 0070014
Informations de publication
Date de publication:
01 Dec 2024
01 Dec 2024
Historique:
medline:
21
10
2024
pubmed:
21
10
2024
entrez:
21
10
2024
Statut:
ppublish
Résumé
This is a systematic review and meta-analysis evaluating the uptake of cascade genetic testing for hereditary breast and ovarian cancer syndrome. Among 30 studies included for meta-analysis, the uptake of cascade genetic testing was 33% (95% CI 25%-42%), with higher uptake rates among females compared with male relatives, and among first-degree compared with second-degree relatives. These findings indicate suboptimal uptake of cascade genetic testing among people at risk for hereditary breast and ovarian cancer syndrome, representing a missed opportunity for cancer prevention and early detection. There is a need for interventions to improve uptake rates.
Identifiants
pubmed: 39431491
doi: 10.1097/GRF.0000000000000895
pii: 00003081-202412000-00009
doi:
Types de publication
Systematic Review
Journal Article
Meta-Analysis
Langues
eng
Sous-ensembles de citation
IM
Pagination
702-710Informations de copyright
Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.
Références
Norquist BM, Harrell MI, Brady MF, et al. Inherited mutations in women with ovarian carcinoma. JAMA Oncol. 2016;2:482–490.
Finch AP, Lubinski J, Moller P, et al. Impact of oophorectomy on cancer incidence and mortality in women with a BRCA1 or BRCA2 mutation. J Clin Oncol. 2014;32:1547–1553.
Li X, You R, Wang X, et al. Effectiveness of prophylactic surgeries in brca1 or brca2 mutation carriers: a meta-analysis and systematic review. Clin Cancer Res. 2016;22:3971–3981.
National Comprehensive Cancer Network. Guideline: Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic (Version 3.2024). 2024.
Committee on Gynecologic P. ACOG committee opinion no. 727: cascade testing: testing women for known hereditary genetic mutations associated with cancer. Obstet Gynecol. 2018;131:e31–e34.
Center for Disease Control and Prevention. Tier 1 Genomic Applications Toolkit for Public Health Departments, 2024.
Frey MK, Ahsan MD, Bergeron H, et al. Cascade testing for hereditary cancer syndromes: should we move toward direct relative contact? a systematic review and meta-analysis. J Clin Oncol. 2022;40:4129–4143.
Agiannitopoulos K, Potska K, Katseli A, et al. Only 32.3% of breast cancer families with pathogenic variants in cancer genes utilized cascade genetic testing. Cancers (Basel). 2023;15:5218.
Trevisan L, Godino L, Battistuzzi L, et al. Cascade testing in italian hereditary breast ovarian cancer families: a missed opportunity for cancer prevention? Fam Cancer. 2023;23:197–207.
Seven M, Shah LL, Yazici H, et al. From probands to relatives: communication of genetic risk for hereditary breast-ovarian cancer and its influence on subsequent testing. Cancer Nurs. 2022;45:E91–E98.
Page MJ, McKenzie JE, Bossuyt PM, et al. The prisma 2020 statement: an updated guideline for reporting systematic reviews. BMJ. 2021;372:n71.
Booth A, Clarke M, Dooley G, et al. The nuts and bolts of PROSPERO: an international prospective register of systematic reviews. Syst Rev. 2012;1:2.
Biesecker BB, Ishibe N, Hadley DW, et al. Psychosocial factors predicting BRCA1/BRCA2 testing decisions in members of hereditary breast and ovarian cancer families. Am J Med Genet. 2000;93:257–263.
Blandy C, Chabal F, Stoppa-Lyonnet D, et al. Testing participation in BRCA1/2-positive families: initiator role of index cases. Genet Test. 2003;7:225–233.
Bodd TL, Reichelt J, Heimdal K, et al. Uptake of BRCA1 genetic testing in adult sisters and daughters of known mutation carriers in Norway. J Genet Couns. 2003;12:405–417.
Brooks L, Lennard F, Shenton A, et al. BRCA1/2 predictive testing: a study of uptake in two centres. Eur J Hum Genet. 2004;12:654–662.
Cody N, Green A, McDevitt T, et al. Cascade screening in BRCA1/2 mutation carriers. Ir Med J. 2008;101:140–142.
Gauna Cristaldo FB, Touzani R, Apostolidis T, et al. Uptake of genetic counseling among adult children of BRCA1/2 mutation carriers in France. Psychooncology. 2019;28:1894–1900.
Donenberg T, George S, Ali J, et al. A clinically structured and partnered approach to genetic testing in Trinidadian women with breast cancer and their families. Breast Cancer Res Treat. 2019;174:469–477.
Evans DG, Binchy A, Shenton A, et al. Comparison of proactive and usual approaches to offering predictive testing for BRCA1/2 mutations in unaffected relatives. Clin Genet. 2009;75:124–132.
Fehniger J, Lin F, Beattie MS, et al. Family communication of BRCA1/2 results and family uptake of BRCA1/2 testing in a diverse population of BRCA1/2 carriers. J Genet Couns. 2013;22:603–612.
Finlay E, Stopfer JE, Burlingame E, et al. Factors determining dissemination of results and uptake of genetic testing in families with known BRCA1/2 mutations. Genet Test. 2008;12:81–91.
Fischer C, Engel C, Sutter C, et al. BRCA1/2 testing: uptake, phenocopies, and strategies to improve detection rates in initially negative families. Clin Genet. 2012;82:478–483.
Holloway SM, Bernhard B, Campbell H, et al. Uptake of testing for BRCA1/2 mutations in South East Scotland. Eur J Hum Genet. 2008;16:906–912.
Jeong GW, Shin W, Lee DO, et al. Uptake of family-specific mutation genetic testing among relatives of patients with ovarian cancer with BRCA1 or BRCA2 mutation. Cancer Res Treat. 2021;53:207–211.
Julian-Reynier C, Sobol H, Sevilla C, et al. Uptake of hereditary breast/ovarian cancer genetic testing in a French national sample of BRCA1 families. The French Cancer Genetic Network. Psychooncology. 2000;9:504–510.
Lerman C, Narod S, Schulman K, et al. BRCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes. JAMA. 1996;275:1885–1892.
Lieberman S, Lahad A, Tomer A, et al. Familial communication and cascade testing among relatives of BRCA population screening participants. Genet Med. 2018;20:1446–1454.
Lynch HT, Snyder CL, Lynch JF, et al. Family information service participation increases the rates of mutation testing among members of families with BRCA1/2 mutations. Breast J. 2009;15(suppl 1):S20–S24.
McGivern B, Everett J, Yager GG, et al. Family communication about positive BRCA1 and BRCA2 genetic test results. Genet Med. 2004;6:503–509.
McInerney-Leo A, Biesecker BB, Hadley DW, et al. BRCA1/2 testing in hereditary breast and ovarian cancer families: effectiveness of problem-solving training as a counseling intervention. Am J Med Genet A. 2004;130A:221–227.
Meijers-Heijboer EJ, Verhoog LC, Brekelmans CT, et al. Presymptomatic DNA testing and prophylactic surgery in families with a BRCA1 or BRCA2 mutation. Lancet. 2000;355:2015–2020.
Menko FH, Jeanson KN, Bleiker EMA, et al. The uptake of predictive DNA testing in 40 families with a pathogenic BRCA1/BRCA2 variant. An evaluation of the proband-mediated procedure. Eur J Hum Genet. 2020;28:1020–1027.
Reichelt JG, Dahl AA, Heimdal K, et al. Uptake of genetic testing and pre-test levels of mental distress in Norwegian families with known BRCA1 mutations. Dis Markers. 1999;15:139–143.
Sanz J, Ramon y Cajal T, Torres A, et al. Uptake of predictive testing among relatives of BRCA1 and BRCA2 families: a multicenter study in northeastern Spain. Fam Cancer. 2010;9:297–304.
Samadder NJ, Riegert-Johnson D, Boardman L, et al. Comparison of universal genetic testing vs guideline-directed targeted testing for patients with hereditary cancer syndrome. JAMA Oncol. 2021;7:230–237.
Schmidlen TJ, Bristow SL, Hatchell KE, et al. The impact of proband indication for genetic testing on the uptake of cascade testing among relatives. Front Genet. 2022;13:867226.
Sermijn E, Delesie L, Deschepper E, et al. The impact of an interventional counselling procedure in families with a BRCA1/2 gene mutation: efficacy and safety. Fam Cancer. 2016;15:155–162.
Trottier M, Lunn J, Butler R, et al. Strategies for recruitment of relatives of BRCA mutation carriers to a genetic testing program in the Bahamas. Clin Genet. 2015;88:182–186.
Yoon SY, Thong MK, Taib NA, et al. Genetic counseling for patients and families with hereditary breast and ovarian cancer in a developing Asian country: an observational descriptive study. Fam Cancer. 2011;10:199–205.
Sarki M, Ming C, Aissaoui S, et al. Intention to inform relatives, rates of cascade testing, and preference for patient-mediated communication in families concerned with hereditary breast and ovarian cancer and lynch syndrome: the swiss cascade cohort. Cancers (Basel). 2022;14:1636.
Nash Z, Menon U. Ovarian cancer screening: current status and future directions. Best Pract Res Clin Obstet Gynaecol. 2020;65:32–45.
Offit K, Tkachuk KA, Stadler ZK, et al. Cascading after peridiagnostic cancer genetic testing: an alternative to population-based screening. J Clin Oncol. 2020;38:1398–1408.
Ahsan MD, Levi SR, Webster EM, et al. Do people with hereditary cancer syndromes inform their at-risk relatives? A systematic review and meta-analysis. PEC Innov. 2023;2:100138.
Kahn RM, Ahsan MD, Chapman-Davis E, et al. Barriers to completion of cascade genetic testing: how can we improve the uptake of testing for hereditary breast and ovarian cancer syndrome? Fam Cancer. 2023;22:127–133.
Whitaker KD, Obeid E, Daly MB, et al. Cascade genetic testing for hereditary cancer risk: an underutilized tool for cancer prevention. JCO Precis Oncol. 2021;5:1387–1396.
Rauscher EA, Dean M, Campbell-Salome GM. “I am uncertain about what my uncertainty even is”: men’s uncertainty and information management of their brca-related cancer risks. J Genet Couns. 2018;27:1417–1427.
Dean M, Campbell-Salome G, Rauscher EA. Engaging men with brca-related cancer risks: practical advice for brca risk management from male stakeholders. Am J Mens Health. 2020;14:1557988320924932.
Frey MK, Kahn RM, Chapman-Davis E, et al. Prospective feasibility trial of a novel strategy of facilitated cascade genetic testing using telephone counseling. J Clin Oncol. 2020;38:1389–1397.
Ahsan MD, Webster EM, Nguyen NT, et al. Underrepresentation of racial and ethnic minorities in cascade testing for hereditary cancer syndromes. Eur J Hum Genet. 2023;31:723–724.