This article addresses conceptual challenges and theoretical approaches for examining the role of the family in responding and adapting to genetic testing for inherited conditions. Using a family systems perspective, family-based constructs that are relevant to genetic testing may be organized into three domains: family communication, organization and structure of family relationships, and health-related cognitions and beliefs shared within families. Empirical findings are presented from key content areas in family-based genetics research, including family communication, how genetic testing affects family relationships, psychological responses to genetic testing in the family context, and family-based influences on health decisions. Future research should explore decision making about genetic testing or behavior change specifically within the context of the family system and should identify family-based determinants of genetic testing outcomes.
Baranowski, T. (1997). Families and health actions. In D. S. Gochman (Ed.), Handbook of health behavior research I: Personal and social determinants (pp. 179-206). New York: Plenum.
2.
Beskow, L. M., Botkin, J. R., Daly, M., Juengst, E. T., Lehmann, L. S., Merz, J. F., et al. (2004). Ethical issues in identifying and recruiting participants for familial genetic research. American Journal of Medical Genetics, 130A(4), 424-431.
3.
Bowen, D. J., Bourcier, E., Press, N., Lewis, F. M., & Burke, W. (2004). Effects of individual and family functioning on interest in genetic testing. Community Genetics, 7(1), 25-32.
4.
Claes, E., Evers-Kiebooms, G., Boogaerts, A., Decruyenaere, M., Denayer, L., & Legius, E. (2003). Communication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patients. American Journal of Medical Genetics, 116A(1), 11-19.
5.
Codori, A. M., Zawacki, K. L., Petersen, G. M., Miglioretti, D. L., Bacon, J. A., Trimbath, J. D., et al. (2003). Genetic testing for hereditary colorectal cancer in children: Long-term psychological effects. American Journal of Medical Genetics, 116A, 117-128.
6.
Collins, F. S., Green, E. D., Guttmacher, A. E., & Guyer, M. S. (2003). A vision for the future of genomics research. Nature, 422(6934), 835-847.
7.
Daly, M. B., Barsevick, A., Miller, S. M., Buckman, R., Costalas, J., Montgomery, S., et al. (2001). Communicating genetic test results to the family: A six-step, skills-building strategy. Family and Community Health, 24(3), 13-26.
8.
Decruyenaere, M., Evers-Kiebooms, G., Cloostermans, T., Boogaerts, A., Demyttenaere, K., Dom, R., et al. (2004). Predictive testing for Huntington’s disease: Relationship with partners after testing. Clinical Genetics, 65, 24-31.
9.
Denayer, L., Evers-Kiebooms, G., De Boeck, K., & Van den Berghe, H. (1992). Reproductive decision making of aunts and uncles of a child with cystic fibrosis: Genetic risk perception and attitudes toward carrier identification and prenatal diagnosis. American Journal of Medical Genetics, 44(1), 104-111.
10.
Djurdjinovic, L. (1998). Psychosocial counseling. In D. L. Baker, J. L. Schuette, & W. R. Uhlmann (Ed.), A guide to genetic counseling (pp. 127-170). New York: John Wiley.
11.
Esplen, M. J., Urquhart, C., Butler, K., Gallinger, S., Aronson, M., & Wong, J. (2003). The experience of loss and anticipation of distress in colorectal cancer patients undergoing genetic testing. Journal of Psychosomatic Research, 55(5), 427-435.
12.
Eunpu, D. L. (1997). Systematically-based therapeutic technique in genetic counseling. Journal of Genetic Counseling, 6(2), 1-20.
13.
Fanos, J. H. (1999). “My crooked vision”: The well sib views ataxia-telangiectasia. American Journal of Medical Genetics, 87(5), 420-425.
14.
Fanos, J. H., & Johnson, J. P. (1995a). Barriers to carrier testing for adult cystic fibrosis sibs: The importance of not knowing. American Journal of Medical Genetics, 59, 85-91.
15.
Fanos, J. H., & Johnson, J. P. (1995b). Perception of carrier status by cystic fibrosis siblings. American Journal of Human Genetics, 57, 431-438.
16.
Foster, C., Eeles, R., Ardern-Jones, A., Moynihan, C., & Watson, E. (2004). Juggling roles and expectations: Dilemmas faced by women talking to relatives about cancer and genetic testing. Psychology & Health, 19(4), 439-455.
17.
Gochman, D. S. (1997). Family health cognitions. In D. S. Gochman (Ed.), Handbook of health behavior research I: Personal and social determinants (pp. 207-221). New York: Plenum.
18.
Green, J. M., & Murton, F. E. (1993). Duchenne muscular dystrophy: The experiences of 158 families. Cambridge, UK: University of Cambridge, Centre of Family Research.
19.
Guttmacher, A. E., Collins, F. S., & Carmona, R. H. (2004). The family history—More important than ever. New England Journal of Medicine, 351(22), 2333-2336.
20.
Henneman, L., Kooij, L., Bouman, K., & ten Kate, L. P. (2002). Personal experiences of cystic fibrosis (CF) carrier couples prospectively identified in CF families. American Journal of Medical Genetics, 110(4), 324-331.
21.
Hughes, C., Lerman, C., Schwartz, M., Peshkin, B. N., Wenzel, L., Narod, S., et al. (2002). All in the family: Evaluation of the process and content of sisters’ communication about BRCA1 and BRCA2 genetic test results. American Journal of Medical Genetics, 107(2), 143-150.
22.
Hughes, C., Lynch, H., Durham, C., Snyder, C., Lemon, S., Narod, S., et al. (1999). Communication of BRCA1/2 test results in hereditary breast cancer families. Cancer Research Therapy and Control, 8, 51-59.
23.
Hughes Halbert, C. H., Wenzel, L., Lerman, C., Peshkin, B. N., Narod, S., Marcus, A., et al. (2004). Predictors of participation in psychosocial telephone counseling following genetic testing for BRCA1 and BRCA2 mutations. Cancer Epidemiology, Biomarkers & Prevention, 13(5), 875-881.
24.
Kenen, R., Arden-Jones, A., & Eeles, R. (2004a). Healthy women from suspected hereditary breast and ovarian cancer families: The significant others in their lives. European Journal of Cancer Care, 13(2), 169-179.
25.
Kenen, R., Arden-Jones, A., & Eeles, R. (2004b). We are talking, but are they listening? Communication patterns in families with a history of breast/ovarian cancer (HBOC). Psycho-Oncology, 13(5), 335-345.
26.
Koehly, L. M., Peterson, S. K., Watts, B. G., Kempf, K. K., Vernon, S. W., & Gritz, E. R. (2003). A social network analysis of communication about hereditary nonpolyposis colorectal cancer genetic testing and family functioning. Cancer Epidemiology, Biomarkers & Prevention, 12(4), 304-313.
27.
Lerman, C., Croyle, R. T., Tercyak, K. P., & Hamann, H. (2002). Genetic testing: Psychological aspects and implications. Journal of Consulting and Clinical Psychology, 70(3), 784-797.
28.
Loader, S., Levenkron, J. C., & Rowley, P. T. (1998). Genetic testing for breast-ovarian cancer susceptibility: A regional trial. Genetic Testing, 2(4), 305-313.
29.
Lodder, L. N., Frets, P. G., Trijsburg, R. W., Meijers-Heijboer, E. J., Klijn, J. G., & Niermeijer, M. F. (2000). Attitudes towards termination of pregnancy in subjects who underwent presymptomatic testing for the BRCA1/BRCA2 gene mutation in the Netherlands. Journal of Medical Genetics, 37(11), 883-884.
30.
Manne, S., Audrezet, M. P., Schwartz, M., Main, D., Finch, C., & Lerman, C. (2004). Associations between relationship support and psychological reactions of participants and partners to BRCA1 and BRCA2 testing in a clinic-based sample. Annals of Behavioral Medicine, 28(3), 211-225.
31.
McGivern, B., Everett, J., Yager, G. G., Baumiller, R. C., Hafertepen, A., & Saal, H. M. (2004). Family communication about positive BRCA1 and BRCA2 genetic test results. Genetics in Medicine, 6(6), 503-509.
32.
Miesfeldt, S., Cohn, W. F., Jones, S. M., Ropka, M. E., & Weinstein, J. C. (2003). Breast cancer survivors’ attitudes about communication of breast cancer risk to their children. American Journal of Medical Genetics, 119C(1), 45-50.
33.
Peters, J. A., Kenen, R., Giusti, R., Loud, J., Weissman, N., & Greene, M. H. (2004). Exploratory study of the feasibility and utility of the colored eco-genetic relationship map (CEGRM) in women at high genetic risk of developing breast cancer. American Journal of Medical Genetics, 130A(3), 258.
34.
Peterson, S. K., Watts, B. G., Koehly, L. M., Vernon, S. W., Baile, W. F., Kohlmann, W. K., et al. (2003). How families communicate about HNPCC genetic testing: Findings from a qualitative study. American Journal of Medical Genetics, 119C(1), 78-86.
35.
Quaid, K. A., & Wesson, M. K. (1995). Exploration of the effects of predictive testing for Huntington disease on intimate relationships. American Journal of Medical Genetics, 57(1), 46-51.
36.
Richards, M. (1996). Families, kinship and genetics. In T. Marteau & M. Richards (Eds.), The troubled helix: Social & psychological implications of the new human genetics (pp. 249-273). Cambridge, UK: Cambridge University Press.
37.
Rolland, J. S. (1994). Families, illness, and disability. New York: Basic Books.
38.
Ross, C. E., Mirowsky, J., & Goldsteen, K. (1990). The impact of the family on health: A decade in review. Journal of Marriage and the Family, 52, 1059-1078.
39.
Segal, J., Esplen, M. J., Toner, B., Baedorf, S., Narod, S., & Butler, K. (2004). An investigation of the disclosure process and support needs of BRCA1 and BRCA2 carriers. American Journal of Medical Genetics, 125A(3), 267-272.
40.
Shields, A., Lerman, C., & Sullivan, P. (2004). Translating emerging research on the genetics of smoking into clinical practice: Ethical and social considerations. Nicotine & Tobacco Research, 6(4), 675-688.
41.
Smith, K. R., Ellington, L., Chan, A. Y., Croyle, R. T., & Botkin, J. R. (2004). Fertility intentions following testing for a BRCA1 gene mutation. Cancer Epidemiology, Biomarkers & Prevention, 13(5), 733-740.
42.
Smith, K. R., West, J. A., Croyle, R. T., & Botkin, J. R. (1999). 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 Epidemiology, Biomarkers & Prevention, 8, 385-392.
43.
Snowdon, C., & Green, J. M. (1997). Preimplantation diagnosis and other reproductive options: Attitudes of male and female carriers of recessive disorders. Human Reproduction, 12(2), 341-350.
44.
Sobel, S., & Cowan, D. B. (2000). Inpact of genetic testing for Huntington disease on the family system. American Journal of Medical Genetics, 90, 49-59.
45.
Sobel, S., & Cowan, C. B. (2003). Ambiguous loss and disenfranchised grief: The impact of DNA predictive testing on the family as a system. Family Process, 42(1), 47-57.
46.
Sorenson, J. R., & Botkin, J. R. (2003). Genetic testing and the family. American Journal of Medical Genetics, 119C(1), 1-2.
47.
Tercyak, K. P., Hughes, C., Main, D., Snyder, C., Lynch, J. F., Lynch, H. T., et al. (2001). Parental communication of BRCA1/2 genetic test results to children. Patient Education and Counseling, 42, 213-224.
48.
Tercyak, K. P., Peshkin, B. N., DeMarco, T. A., Brogan, B. M., & Lerman, C. (2002). Parent-child factors and their effect on communitcating BRCA/2 test results to children. Patient Education and Counseling, 47, 143-153.
49.
Tercyak, K. P., Peshkin, B. N., Streisand, R., & Lerman, C. (2001). Psychological issues among children of hereditary breast cancer gene (BRCA1/2) testing participants. Psycho-Oncology, 10, 336-346.
50.
Tibben, A., Duivenvoorden, H. J., Vegter-van der Vlis, M., Neirmeijer, M. F., Frets, P. G., Van de Kamp, J. J. P., et al. (1993). Presymptomatic DNA testing for Huntington disease: Identifying the need for psychological intervention. American Journal of Medical Genetics, 48, 137-144.
51.
Tibben, A., Frets, P., Van de Kamp, J. J. P., Niermeijer, M. F., Vegtervan der Vlis, M., Roos, R. A., et al. (1993). On attitudes and appreciation 6 months after predictive DNA testing for Huntington disease in the Dutch program. American Journal of Medical Genetics, 48, 103-111.
52.
Varekamp, I., Suurmeijer, T., Brocker-Vriends, A., & Rosendaal, F. R. (1992). Hemophilia and the use of genetic counseling and carrier testing within family networks. Birth Defects Original Article Series, 28(1), 139-148.
53.
Walsh, F. (1995). From family damage to family challenge. In R. H. Mikesell, D. Lusterman, & S. H. McDaniel(Ed.), Integrating family therapy: Handbook of family psychology and systems theory. Hyattsville, MD: American Psychological Association.
54.
Walsh, F. (1998). Strengthening family resilience. New York: Guilford.
55.
Weil, J. (2000). Psychosocial genetic counseling. New York: Oxford University Press.
56.
Wilson, B. J., Forrest, K., van Teijlingen, E. R., McKee, L., Haites, N., Matthews, E., et al. (2004). Family communication about genetic risk: The little that is known. Community Genetics, 7(1), 15-24.
57.
Wylie, J. E., Smith, K. R., & Botkin, J. R. (2003). Effects of spouses on distress experienced by BRCA1 mutation carriers over time. American Journal of Medical Genetics, 119C(1), 35-44.
58.
Yoon, P. W., Scheuner, M. T., Gwinn, M., Khoury, M. J., Jorgensen, C., Hariri, S., et al. (2004). Awareness of family history as a risk factor for disease—United States, 2004. Morbidity and Mortality Weekly Report, 53(44), 1044-1047.
