Factors determining dissemination of results and uptake of genetic testing in families with known BRCA1/2 mutations
Esme Finlay, Jill E Stopfer, Eric Burlingame, Katherine Goldfeder Evans, Katherine L Nathanson, Barbara L Weber, Katrina Armstrong, Timothy R Rebbeck, Susan M Domchek, Esme Finlay, Jill E Stopfer, Eric Burlingame, Katherine Goldfeder Evans, Katherine L Nathanson, Barbara L Weber, Katrina Armstrong, Timothy R Rebbeck, Susan M Domchek
Abstract
Background: Uptake of genetic testing remains low, even in families with known BRCA1 and BRCA2 (BRCA1/2) mutations, despite effective interventions to reduce risk. We report disclosure and uptake patterns by BRCA1/2-positive individuals to at-risk relatives, in the setting of no-cost genetic counseling and testing.
Methods: Relatives of BRCA1/2-positive individuals were offered cost-free and confidential genetic counseling and testing. If positive for a BRCA1/2 mutation, participants were eligible to complete a survey about their disclosure of mutation status and the subsequent uptake of genetic testing by at-risk family members.
Results: One hundred and fifteen of 142 eligible individuals responded to the survey (81%). Eighty-eight (77%) of those surveyed disclosed results to all at-risk relatives. Disclosure to first-degree relatives (FDRs) was higher than to second-degree relatives (SDRs) and third-degree relatives (TDR) (95% vs. 78%; p < 0.01). Disclosure rates to male versus female relatives were similar, but reported completion of genetic testing was higher among female versus male FDRs (73% vs. 49%; p < 0.01) and SDRs (68% vs. 43%; p < 0.01), and among members of maternal versus paternal lineages (63% vs. 0%; p < 0.01). Men were more likely than women to express general difficulty discussing positive BCRA1/2 results with at-risk family members (90% vs. 70%; p = 0.03), while women reported more emotional distress associated with disclosure than men (48% vs. 13%; p < 0.01).
Discussion: We report a very high rate of disclosure of genetic testing information to at-risk relatives. However, uptake of genetic testing among at-risk individuals was low despite cost-free testing services, particularly in men, SDRs, and members of paternal lineages. The complete lack of testing among paternally related at-risk individuals and the lower testing uptake among men signify a significant barrier to testing and a challenge for genetic counselors and physicians working with high-risk groups. Further research is necessary to ensure that family members understand their risk and the potential benefits of genetic counseling.
References
- Balamana J, Stoffel E, Emmons K, Garber J, Syngal S. Comparison of motivations and concerns for genetic testing in hereditary colorectal and breast cancer syndromes. J Med Genet. 2004;41:e44.
- Blandy C, Chabal F, Stoppa-Lyonnet D, Julian-Reynier C. Testing participation in BRGA1/2-positivc families: initiator role of index cases. Genet Test. 2003;7:225–233.
- Claes E, Evers-Kiebooms G, Boogaerts A, Decruyenaere M, Denayer L, Legius E. Communication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patients. Am J Med Genet. 2003;116A:11–19.
- Daly MB, Barsevick A, Miller S, Buckman R, Costalas J, Montomery S, Bingler R. Communicating genetic test results to the family: a six-step, skills-building strategy. Fam Community Health. 2001;24:13–26.
- Forrest K, Simpson SA, Wilson BJ, van Teijlingen ER, McKee L, Haites N, Matthews E. To tell or not to tell: barriers and facilitators in family communication about genetic risk. Clin Genet. 2003;64:317–326.
- Green J, Richards M, Murton F, Statham H, Hallowell N. Family communication and genetic counseling: the case of hereditary breast and ovarian cancer. J Genet Courts. 1997;6:45–60.
- Hughes C, Lerman C, Schwartz M, Peshkin B, Wenzel L, Narod S, Corio C, Tercyak K, Hanna D, Isaacs C, Main D. All in the family: evaluation of the process and content of sisters’ communication about BRCA1 and BRCA2 genetic test results. Am J Med Genet. 2002;107:143–150.
- Julian-Reynier C, Eisinger F, Chabal F, Lasset C, Nogues C, Stoppa-Lyonnet D, Vennin P, Sobol H. Disclosure to the family of breast/ovarian cancer genetic test results: patient’s willingness and associated factors. Am J Med Genet. 2000;94:13–18.
- Julian-Reynier C, Eisinger F, Vennin P, Chabal F, Aurran Y, Nogues C, Bignon Y-J, Machelard-Roumagnac M, Maugard-Louboutin C, Serin D, Blanc B, Osroni V, Sobol H. Attitudes toward cancer predictive testing and transmission of information to the family. J Med Genet. 1996;33:731–736.
- Landsbergen K, Verhaak C, Kraaimaat F, Hoogerbrugge N. Genetic uptake in BRCA-mutation families is related to emotional and behavioral characteristics of index patients. Fam Cancer. 2005;4:115–119.
- Liede A, Metcalfe K, Hanna D, Hoodfar E, Snyder C, Durham C, Lynch H, Narod S. Evaluation of the needs of male carriers of mutations in BRCA1 and BRCA2 who have undergone genetic counseling. Am J Hum Genet. 2000;67:1494–1504.
- McAllister M, Evans D, Gateth R, Ormiston W, Daly P. Men in breast cancer families: a preliminary qualitative study of awareness and experience. J Med Genet. 1998;35:739–744.
- McGivern B, Everett J, Yager G, Baumiller K, Hafertepen A, Saal H. Family communication about positive BRCA1 and BRCA2 genetic test results. Genet Med. 2004;6:503–509.
- Quillin JM, Ramakrishnan V, Borzelleca J, Bodurtha J, Bowen D, Baer Wilson D. Paternal relatives and family history of breast cancer. Am J Prev Med. 2006;31:265–268. Germán Rodríguez [ grodriguez@rima.org]
- Sermijn E, Goelen G, Teugels E, Kaufman I, Bonduelle M, Ncyns B, Poppe B, de Paepc A, de Greve J. The impact of proband mediated information dissemination in families with a BRCA1/2 gene mutation. J Med Genet. 2004;41:e23.
- Wagner Costalas J, Itzen M, Malick J, Babb J, Dove B, Godwin A, Daly MB. Communication of BRCA1 and BRCA2 results to at-risk relatives: a cancer risk assessment program’s experience. Am J Med Genet. 2003;119C:11–18.
Source: PubMed