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Published in: Hereditary Cancer in Clinical Practice 1/2004

Open Access 01-02-2004 | Review

A Counselling Model for BRCA1/2 Genetic Susceptibility Testing

Authors: Iris van Oostrom, Aad Tibben

Published in: Hereditary Cancer in Clinical Practice | Issue 1/2004

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Abstract

When BRCA1/2 genetic susceptibility testing was introduced in the clinic in the mid-nineties, the "Huntington protocol" was used in the counselling of individuals applying for genetic testing. This protocol includes at least three sessions with a certain reflection period before blood sampling. Evidence on the psychological impact of BRCA1/2 genetic susceptibility testing has been accumulating in the last years. We will give a short overview of these psychological studies in order to reflect the need of using the extensive Huntington protocol in the counselling of individuals applying for BRCA1/2 genetic susceptibility testing. A shortened and more flexible BRCA1/2 counselling protocol is delineated, in which the attention is focused on the needs and strengths of the individual.
Literature
1.
go back to reference Easton DF, Ford D, Bishop DT: Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet 1995,56(1):265–271.PubMedCentralPubMed Easton DF, Ford D, Bishop DT: Breast and ovarian cancer incidence in BRCA1-mutation carriers. Breast Cancer Linkage Consortium. Am J Hum Genet 1995,56(1):265–271.PubMedCentralPubMed
2.
go back to reference Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J, Sobol H, Teare MD, Struewing J, Arason A, Scherneck S, Peto J, Rebbeck TR, Tonin P, Neuhausen S, Barkardottir R, Eyfjord J, Lynch H, Ponder BA, Gayther SA, Birch JM, Lindblom A, Stoppa-Lyonnet D, Bignon Y, Borg A, Hamann U, Haites N, Scott RJ, Maugard CM, Vasen H, Seitz S, Cannon-Albright LA, Schofield A, Zelada-Hedman M: Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1998,62(3):676–689. 10.1086/301749PubMedCentralCrossRefPubMed Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude J, Sobol H, Teare MD, Struewing J, Arason A, Scherneck S, Peto J, Rebbeck TR, Tonin P, Neuhausen S, Barkardottir R, Eyfjord J, Lynch H, Ponder BA, Gayther SA, Birch JM, Lindblom A, Stoppa-Lyonnet D, Bignon Y, Borg A, Hamann U, Haites N, Scott RJ, Maugard CM, Vasen H, Seitz S, Cannon-Albright LA, Schofield A, Zelada-Hedman M: Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 1998,62(3):676–689. 10.1086/301749PubMedCentralCrossRefPubMed
3.
go back to reference Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, 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, Syrjakoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF: 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. Am J Hum Genet 2003,72(5):1117–1130. 10.1086/375033PubMedCentralCrossRefPubMed Antoniou A, Pharoah PD, Narod S, Risch HA, Eyfjord JE, Hopper JL, Loman N, Olsson H, Johannsson O, Borg A, 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, Syrjakoski K, Kallioniemi OP, Thompson D, Evans C, Peto J, Lalloo F, Evans DG, Easton DF: 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. Am J Hum Genet 2003,72(5):1117–1130. 10.1086/375033PubMedCentralCrossRefPubMed
4.
go back to reference Horowitz M, Sundin E, Zanko A, Lauer R: Coping with grim news from genetic tests. Psychosomatics 2001,42(2):100–105. 10.1176/appi.psy.42.2.100CrossRefPubMed Horowitz M, Sundin E, Zanko A, Lauer R: Coping with grim news from genetic tests. Psychosomatics 2001,42(2):100–105. 10.1176/appi.psy.42.2.100CrossRefPubMed
5.
go back to reference Lodder LN, Frets PG, Trijsburg RW, Meijers-Heijboer EJ, Klijn JG, Duivenvoorden HJ, Tibben A, Wagner A, Meer CA, Devilee P, Cornelisse CJ, Niermeijer MF: Presymptomatic testing for BRCA1 and BRCA2: how distressing are the pre-test weeks? J Med Genet 1999,36(12):906–913.PubMedCentralPubMed Lodder LN, Frets PG, Trijsburg RW, Meijers-Heijboer EJ, Klijn JG, Duivenvoorden HJ, Tibben A, Wagner A, Meer CA, Devilee P, Cornelisse CJ, Niermeijer MF: Presymptomatic testing for BRCA1 and BRCA2: how distressing are the pre-test weeks? J Med Genet 1999,36(12):906–913.PubMedCentralPubMed
6.
go back to reference Lerman C, Narod S, Schulman K, Hughes C, Gomez-Caminero A, Bonney G, Gold K, Trock B, Main D, Lynch J, Fulmore C, Snyder C, Lemon SJ, Conway T, Tonin P, Lenoir G, Lynch H: RCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes. JAMA 1996, 275: 1885–1892. 10.1001/jama.275.24.1885CrossRefPubMed Lerman C, Narod S, Schulman K, Hughes C, Gomez-Caminero A, Bonney G, Gold K, Trock B, Main D, Lynch J, Fulmore C, Snyder C, Lemon SJ, Conway T, Tonin P, Lenoir G, Lynch H: RCA1 testing in families with hereditary breast-ovarian cancer. A prospective study of patient decision making and outcomes. JAMA 1996, 275: 1885–1892. 10.1001/jama.275.24.1885CrossRefPubMed
7.
go back to reference Croyle RT, Smith KR, Botkin JR, Baty B, Nash J: Psychological response to BRCA1 mutation testing: preliminary findings. Health Psychol 1997, 16: 63–72. 10.1037/0278-6133.16.1.63CrossRefPubMed Croyle RT, Smith KR, Botkin JR, Baty B, Nash J: Psychological response to BRCA1 mutation testing: preliminary findings. Health Psychol 1997, 16: 63–72. 10.1037/0278-6133.16.1.63CrossRefPubMed
8.
go back to reference Lodder L, Frets PG, Trijsburg RW, Meijers-Heijboer EJ, Klijn JG, Duivenvoorden HJ, Tibben A, Wagner A, Meer CA, Ouweland AM, Niermeijer MF: Psychological impact of receiving a BRCA1/BRCA2 test result. Am J Med Genet 2001, 98: 15–24. 10.1002/1096-8628(20010101)98:1<15::AID-AJMG1014>3.0.CO;2-0CrossRefPubMed Lodder L, Frets PG, Trijsburg RW, Meijers-Heijboer EJ, Klijn JG, Duivenvoorden HJ, Tibben A, Wagner A, Meer CA, Ouweland AM, Niermeijer MF: Psychological impact of receiving a BRCA1/BRCA2 test result. Am J Med Genet 2001, 98: 15–24. 10.1002/1096-8628(20010101)98:1<15::AID-AJMG1014>3.0.CO;2-0CrossRefPubMed
9.
go back to reference Schwartz MD, Peshkin BN, Hughes C, Main D, Isaacs C, Lerman C: Impact of BRCA1/BRCA2 mutation testing on psychologic distress in a clinic-based sample. J Clin Oncol 2002,20(2):514–520. 10.1200/JCO.20.2.514CrossRefPubMed Schwartz MD, Peshkin BN, Hughes C, Main D, Isaacs C, Lerman C: Impact of BRCA1/BRCA2 mutation testing on psychologic distress in a clinic-based sample. J Clin Oncol 2002,20(2):514–520. 10.1200/JCO.20.2.514CrossRefPubMed
10.
go back to reference Lodder LN, Frets PG, Trijsburg RW, Meijers-Heijboer EJ, Klijn JG, Seynaeve C, van Geel AN, Tilanus MM, Bartels CC, Verhoog LC, Brekelmans CT, Burger CW, Niermeijer MF: One year follow-up of women opting for presymptomatic testing for BRCA1 and BRCA2: emotional impact of the test outcome and decisions on risk management (surveillance or prophylactic surgery). Breast Cancer Res Treat 2002,73(2):97–112. 10.1023/A:1015269620265CrossRefPubMed Lodder LN, Frets PG, Trijsburg RW, Meijers-Heijboer EJ, Klijn JG, Seynaeve C, van Geel AN, Tilanus MM, Bartels CC, Verhoog LC, Brekelmans CT, Burger CW, Niermeijer MF: One year follow-up of women opting for presymptomatic testing for BRCA1 and BRCA2: emotional impact of the test outcome and decisions on risk management (surveillance or prophylactic surgery). Breast Cancer Res Treat 2002,73(2):97–112. 10.1023/A:1015269620265CrossRefPubMed
11.
go back to reference Meiser B, Butow P, Friedlander M, Barratt A, Schnieden V, Watson M, Brown J, Tucker K: Psychological impact of genetic testing in women from high-risk breast cancer families. Eur J Cancer 2002,38(15):2025–2031.CrossRefPubMed Meiser B, Butow P, Friedlander M, Barratt A, Schnieden V, Watson M, Brown J, Tucker K: Psychological impact of genetic testing in women from high-risk breast cancer families. Eur J Cancer 2002,38(15):2025–2031.CrossRefPubMed
12.
go back to reference Van Oostrom I, Meijers-Heijboer H, Lodder LN, Duivenvoorden HJ, van Gool AR, Seynaeve C, Meer CA, Klijn JG, van Geel BN, Burger CW, Wladimiroff JW, Tibben A: Long-term psychological impact of carrying a BRCA1/2 mutation and prophylactic surgery: a 5-year follow-up study. J Clin Oncol 2003,21(20):3867–3874. 10.1200/JCO.2003.10.100CrossRefPubMed Van Oostrom I, Meijers-Heijboer H, Lodder LN, Duivenvoorden HJ, van Gool AR, Seynaeve C, Meer CA, Klijn JG, van Geel BN, Burger CW, Wladimiroff JW, Tibben A: Long-term psychological impact of carrying a BRCA1/2 mutation and prophylactic surgery: a 5-year follow-up study. J Clin Oncol 2003,21(20):3867–3874. 10.1200/JCO.2003.10.100CrossRefPubMed
13.
go back to reference Wood ME, Mullineaux L, Rahm AK, Fairclough D, Wenzel L: Impact of BRCA1 testing on women with cancer: a pilot study. Genet Test 2000,4(3):265–272. 10.1089/10906570050501489CrossRefPubMed Wood ME, Mullineaux L, Rahm AK, Fairclough D, Wenzel L: Impact of BRCA1 testing on women with cancer: a pilot study. Genet Test 2000,4(3):265–272. 10.1089/10906570050501489CrossRefPubMed
14.
go back to reference Coyne JC, Kruus L, Racioppo M, Calzone KA, Armstrong K: What do ratings of cancer-specific distress mean among women at high risk of breast and ovarian cancer? Am J Med Genet 2003,116(3):222–228. 10.1002/ajmg.a.10844CrossRef Coyne JC, Kruus L, Racioppo M, Calzone KA, Armstrong K: What do ratings of cancer-specific distress mean among women at high risk of breast and ovarian cancer? Am J Med Genet 2003,116(3):222–228. 10.1002/ajmg.a.10844CrossRef
15.
go back to reference Foster C, Evans DG, Eeles R, Eccles D, Ashley S, Brooks L, Davidson R, Mackay J, Morrison PJ, Watson M: Predictive testing for BRCA1/2: attributes, risk perception and management in a multi-centre clinical cohort. Br J Cancer 2002,86(8):1209–1216. 10.1038/sj.bjc.6600253PubMedCentralCrossRefPubMed Foster C, Evans DG, Eeles R, Eccles D, Ashley S, Brooks L, Davidson R, Mackay J, Morrison PJ, Watson M: Predictive testing for BRCA1/2: attributes, risk perception and management in a multi-centre clinical cohort. Br J Cancer 2002,86(8):1209–1216. 10.1038/sj.bjc.6600253PubMedCentralCrossRefPubMed
16.
go back to reference Coyne JC, Benazon NR, Gaba CG, Calzone K, Weber BL: Distress and psychiatric morbidity among women from high-risk breast and ovarian cancer families. J Consult Clin Psychol 2000, 68: 864–874. 10.1037/0022-006X.68.5.864CrossRefPubMed Coyne JC, Benazon NR, Gaba CG, Calzone K, Weber BL: Distress and psychiatric morbidity among women from high-risk breast and ovarian cancer families. J Consult Clin Psychol 2000, 68: 864–874. 10.1037/0022-006X.68.5.864CrossRefPubMed
17.
go back to reference Hopwood P, Keeling F, Long A, Pool C, Evans G, Howell A: Psychological support needs for women at high genetic risk of breast cancer: some preliminary indicators. Psychooncology 1998,7(5):402–412. 10.1002/(SICI)1099-1611(1998090)7:5<402::AID-PON317>3.3.CO;2-OCrossRefPubMed Hopwood P, Keeling F, Long A, Pool C, Evans G, Howell A: Psychological support needs for women at high genetic risk of breast cancer: some preliminary indicators. Psychooncology 1998,7(5):402–412. 10.1002/(SICI)1099-1611(1998090)7:5<402::AID-PON317>3.3.CO;2-OCrossRefPubMed
18.
go back to reference Audrain J, Schwartz MD, Lerman C, Hughes C, Peshkin BN, Biesecker B: Psychological distress in women seeking genetic counselling for breast-ovarian cancer risk: the contributions of personality and appraisal. Ann Behav Med 1997,19(4):370–377. 10.1007/BF02895156CrossRefPubMed Audrain J, Schwartz MD, Lerman C, Hughes C, Peshkin BN, Biesecker B: Psychological distress in women seeking genetic counselling for breast-ovarian cancer risk: the contributions of personality and appraisal. Ann Behav Med 1997,19(4):370–377. 10.1007/BF02895156CrossRefPubMed
19.
go back to reference Coyne JC, Anderson KK: Marital status, marital satisfaction, and support processes among women at high risk for breast cancer. J Fam Psychol 1999, 13: 629–641. 10.1037/0893-3200.13.4.629CrossRef Coyne JC, Anderson KK: Marital status, marital satisfaction, and support processes among women at high risk for breast cancer. J Fam Psychol 1999, 13: 629–641. 10.1037/0893-3200.13.4.629CrossRef
20.
go back to reference Wylie JE, Smith KR, Botkin JR: Effects of spouses on distress experienced by BRCA1 mutation carriers over time. Am J Med Genet 2003,119C(1):35–44. 10.1002/ajmg.c.10002CrossRefPubMed Wylie JE, Smith KR, Botkin JR: Effects of spouses on distress experienced by BRCA1 mutation carriers over time. Am J Med Genet 2003,119C(1):35–44. 10.1002/ajmg.c.10002CrossRefPubMed
21.
go back to reference Smith KR, West JA, Croyle RT, Botkin JR: Familial context of genetic testing for cancer susceptibility: moderating effect of siblings' test results on psychological distress one to two weeks after BRCA1 mutation testing. Cancer Epidemiol Biomarkers Prev 1999, 8: 385–392.PubMed Smith KR, West JA, Croyle RT, Botkin JR: Familial context of genetic testing for cancer susceptibility: moderating effect of siblings' test results on psychological distress one to two weeks after BRCA1 mutation testing. Cancer Epidemiol Biomarkers Prev 1999, 8: 385–392.PubMed
22.
go back to reference Dorval M, Patenaude AF, Schneider KA, Kieffer SA, DiGianni L, Kalkbrenner KJ, Bromberg JI, Basili LA, Calzone K, Stopfer J, Weber BL, Garber JE: Anticipated versus actual emotional reactions to disclosure of results of genetic tests for cancer susceptibility: findings from p53 and BRCA1 testing programs. J Clin Oncol 2000, 18: 2135–2142.PubMed Dorval M, Patenaude AF, Schneider KA, Kieffer SA, DiGianni L, Kalkbrenner KJ, Bromberg JI, Basili LA, Calzone K, Stopfer J, Weber BL, Garber JE: Anticipated versus actual emotional reactions to disclosure of results of genetic tests for cancer susceptibility: findings from p53 and BRCA1 testing programs. J Clin Oncol 2000, 18: 2135–2142.PubMed
23.
go back to reference Tercyak KP, Lerman C, Peshkin BN, Hughes C, Main D, Isaacs C, Schwartz MD: Effects of coping style and BRCA1 and BRCA2 test results on anxiety among women participating in genetic counselling and testing for breast and ovarian cancer risk. Health Psychol 2001,20(3):217–222. 10.1037/0278-6133.20.3.217CrossRefPubMed Tercyak KP, Lerman C, Peshkin BN, Hughes C, Main D, Isaacs C, Schwartz MD: Effects of coping style and BRCA1 and BRCA2 test results on anxiety among women participating in genetic counselling and testing for breast and ovarian cancer risk. Health Psychol 2001,20(3):217–222. 10.1037/0278-6133.20.3.217CrossRefPubMed
24.
go back to reference Lerman C, Hughes C, Lemon SJ, Main D, Snyder C, Durham C, Narod S, Lynch HT: What you don't know can hurt you: adverse psychologic effects in members of BRCA1-linked and BRCA2-linked families who decline genetic testing. J Clin Oncol 1998, 16: 1650–1654.PubMed Lerman C, Hughes C, Lemon SJ, Main D, Snyder C, Durham C, Narod S, Lynch HT: What you don't know can hurt you: adverse psychologic effects in members of BRCA1-linked and BRCA2-linked families who decline genetic testing. J Clin Oncol 1998, 16: 1650–1654.PubMed
25.
go back to reference Lodder L, Frets PG, Trijsburg RW, Klijn JG, Seynaeve C, Tilanus MM, Bartels CC, Meijers-Heijboer EJ, Verhoog LC, Niermeijer MF: Attitudes and distress levels in women at risk to carry a BRCA1/BRCA2 gene mutation who decline genetic testing. Am J Med Genet 2003,119A(3):266–272. 10.1002/ajmg.a.10168CrossRefPubMed Lodder L, Frets PG, Trijsburg RW, Klijn JG, Seynaeve C, Tilanus MM, Bartels CC, Meijers-Heijboer EJ, Verhoog LC, Niermeijer MF: Attitudes and distress levels in women at risk to carry a BRCA1/BRCA2 gene mutation who decline genetic testing. Am J Med Genet 2003,119A(3):266–272. 10.1002/ajmg.a.10168CrossRefPubMed
26.
go back to reference Brain K, Soldan J, Sampson J, Gray J: Genetic counselling protocols for hereditary non-polyposis colorectal cancer: a survey of UK regional genetics centres. Clin Genet 2003,63(3):198–204. 10.1034/j.1399-0004.2003.00039.xCrossRefPubMed Brain K, Soldan J, Sampson J, Gray J: Genetic counselling protocols for hereditary non-polyposis colorectal cancer: a survey of UK regional genetics centres. Clin Genet 2003,63(3):198–204. 10.1034/j.1399-0004.2003.00039.xCrossRefPubMed
27.
go back to reference Aktan-Collan K, Mecklin JP, de la Chapelle A, Peltomaki P, Uutela A, Kaariainen H: Evaluation of a counselling protocol for predictive genetic testing for hereditary non-polyposis colorectal cancer. J Med Genet 2000,37(2):108–113. 10.1136/jmg.37.2.108PubMedCentralCrossRefPubMed Aktan-Collan K, Mecklin JP, de la Chapelle A, Peltomaki P, Uutela A, Kaariainen H: Evaluation of a counselling protocol for predictive genetic testing for hereditary non-polyposis colorectal cancer. J Med Genet 2000,37(2):108–113. 10.1136/jmg.37.2.108PubMedCentralCrossRefPubMed
28.
go back to reference Julian-Reynier C, Welkenhuysen M, Hagoel L, Decruyenaere M, Hopwood P, CRISCOM Working Group: Risk communication strategies: state of the art and effectiveness in the context of cancer genetic services. Eur J Hum Genet 2003,11(10):725–736. 10.1038/sj.ejhg.5201037CrossRefPubMed Julian-Reynier C, Welkenhuysen M, Hagoel L, Decruyenaere M, Hopwood P, CRISCOM Working Group: Risk communication strategies: state of the art and effectiveness in the context of cancer genetic services. Eur J Hum Genet 2003,11(10):725–736. 10.1038/sj.ejhg.5201037CrossRefPubMed
Metadata
Title
A Counselling Model for BRCA1/2 Genetic Susceptibility Testing
Authors
Iris van Oostrom
Aad Tibben
Publication date
01-02-2004
Publisher
BioMed Central
Published in
Hereditary Cancer in Clinical Practice / Issue 1/2004
Electronic ISSN: 1897-4287
DOI
https://doi.org/10.1186/1897-4287-2-1-19

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