Assessing patient readiness for personalized genomic medicine
The Human Genome Project and the continuing advances in DNA sequencing technology have ushered in a new era in genomic medicine. Successful translation of genomic medicine into clinical care will require that providers of this information are aware of the level of understanding, attitudes, perceived risks, benefits, and concerns of their patients. We used a mixed methods approach to conduct in-depth interviews with participants in the NCI-funded Breast Cancer Family Registry (BCFR). Our goal was to gain a better understanding of attitudes towards different types and amounts of genomic information, current interest in pursuing genomic testing, and perceived risks and benefits. We interviewed 32 women from the six BCFR sites in the USA, Canada, and Australia. In this sample of women with a personal or family history of breast cancer, we found high acknowledgement of the potential of genetics/genomics to improve their own health and that of their family members through lifestyle changes or alterations in their medical management. Respondents were more familiar with cancer genetics than the genetics of other diseases. Concerns about the testing itself included a potential sense of loss of control over health, feelings of guilt on passing on a mutation to a child, loss of privacy and confidentiality, questions about the test accuracy, and the potential uncertainty of the significance of test results. These data provide important insights into attitudes about the introduction of increasingly complex genetic testing, to inform interventions to prepare individuals for the introduction of this new technology into their clinical care.
KeywordsPersonalized genomic medicine Multigene panels Next-generation sequencing Breast Cancer Family Registry
The authors and this work were supported by the National Cancer Institute, Award Number: UMI CA164920.
Compliance with ethical standards
Conflict of interest
All the authors declare they have no conflict of interest.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. This article does not contain any studies with animals performed by any of the authors.
- Biesecker LG, Mullikin JC, Facio FM, Turner C, Cherukuri PF, Blakesley RW, Bouffard GG, Chines PS, Cruz P, Hansen NF, Teer JK, Maskeri B, Young AC, Program NCS, Manolio TA, Wilson AF, Finkel T, Hwang P, Arai A, Remaley AT, Sachdev V, Shamburek R, Cannon RO, Green ED (2009) The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine. Genome Res 19(9):1665–1674. https://doi.org/10.1101/gr.092841.109 CrossRefGoogle Scholar
- Creswell JW (2013) Qualitative inquiry and research design: choosing among five approaches, 3rd edn. SAGE Publications, Inc, Los AngelesGoogle Scholar
- Creswell J, Clark V (2007) Designing and conducting mixed methods research. Sage Publications, Inc., Thousand OaksGoogle Scholar
- Esterberg K (2002) Qualitative methods in social research. McGraw-Hill, BostonGoogle Scholar
- John EM, Hopper JL, Beck JC, Knight JA, Neuhausen SL, Senie RT, Ziogas A, Andrulis IL, Anton-Culver H, Boyd N, Buys SS, Daly MB, O'Malley FP, Santella RM, Southey MC, Venne VL, Venter DJ, West DW, Whittemore AS, Seminara D, Breast Cancer Family R (2004) The Breast Cancer Family Registry: an infrastructure for cooperative multinational, interdisciplinary and translational studies of the genetic epidemiology of breast cancer. Breast Cancer Res 6(4):R375–R389. https://doi.org/10.1186/bcr801 CrossRefGoogle Scholar
- McBride CM, Bowen D, Brody LC, Condit CM, Croyle RT, Gwinn M, Khoury MJ, Koehly LM, Korf BR, Marteau TM, McLeroy K, Patrick K, Valente TW (2010) Future health applications of genomics: priorities for communication, behavioral, and social sciences research. Am J Prev Med 38(5):556–565. https://doi.org/10.1016/j.amepre.2010.01.027 CrossRefGoogle Scholar
- Phillips KA, Liang SY, Van Bebber S, Group CR (2008) Challenges to the translation of genomic information into clinical practice and health policy: utilization, preferences and economic value. Curr Opin Mol Ther 10(3):260–266Google Scholar
- Terry MB, Phillips KA, Daly MB, John EM, Andrulis IL, Buys SS, Goldgar DE, Knight JA, Whittemore AS, Chung WK, Apicella C, Hopper JL (2016) Cohort profile: the Breast Cancer Prospective Family Study Cohort (ProF-SC). Int J Epidemiol 45(3):683–692. https://doi.org/10.1093/ije/dyv118 CrossRefGoogle Scholar
- Wolf SM, Branum R, Koenig BA, Petersen GM, Berry SA, Beskow LM, Daly MB, Fernandez CV, Green RC, LeRoy BS, Lindor NM, O'Rourke PP, Breitkopf CR, Rothstein MA, Van Ness B, Wilfond BS (2015) Returning a research participant’s genomic results to relatives: analysis and recommendations. J Law Med Ethics 43(3):440–463. https://doi.org/10.1111/jlme.12288 Google Scholar