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Journal of Community Genetics

, Volume 10, Issue 1, pp 109–120 | Cite as

Assessing patient readiness for personalized genomic medicine

  • Caren J. Frost
  • Irene L. Andrulis
  • Saundra S. Buys
  • John L. Hopper
  • Esther M. John
  • Mary Beth Terry
  • Angela Bradbury
  • Wendy K. Chung
  • Katherine Colbath
  • Natalie Quintana
  • Elizabeth Gamarra
  • Brian Egleston
  • Nina Galpern
  • Lisa Bealin
  • Gord Glendon
  • Linda Patrick Miller
  • Mary B. DalyEmail author
Original Article

Abstract

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.

Keywords

Personalized genomic medicine Multigene panels Next-generation sequencing Breast Cancer Family Registry 

Notes

Financial support

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.

Ethical approval

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.

Supplementary material

12687_2018_365_MOESM1_ESM.doc (104 kb)
ESM 1 (DOC 103 kb)

References

  1. Agresti A (2002) Categorical data analysis, 2nd edn. John Wiley and Sons, Inc., HobokenCrossRefGoogle Scholar
  2. 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
  3. Cornwall J, Slatter T, Guilford P, Print CG, Henaghan M, Wee R (2014) Culture, law, ethics, and social implications: is society ready for advanced genomic medicine? Australas Med J 7(4):200–202CrossRefGoogle Scholar
  4. Creswell JW (2013) Qualitative inquiry and research design: choosing among five approaches, 3rd edn. SAGE Publications, Inc, Los AngelesGoogle Scholar
  5. Creswell J, Clark V (2007) Designing and conducting mixed methods research. Sage Publications, Inc., Thousand OaksGoogle Scholar
  6. Dondorp WJ, de Wert GM (2013) The ‘thousand-dollar genome’: an ethical exploration. Eur J Hum Genet 21(Suppl 1):S6–S26.  https://doi.org/10.1038/ejhg.2013.73 CrossRefGoogle Scholar
  7. Esterberg K (2002) Qualitative methods in social research. McGraw-Hill, BostonGoogle Scholar
  8. Graves KD, Sinicrope PS, McCormick JB, Zhou Y, Vadaparampil ST, Lindor NM (2015) Public perceptions of disease severity but not actionability correlate with interest in receiving genomic results: nonalignment with current trends in practice. Public Health Genomics 18:173–183CrossRefGoogle Scholar
  9. Haga SB, Barry WT, Mills R, Ginsburg GS, Svetkey L, Sullivan J, Willard HF (2013) Public knowledge of and attitudes toward genetics and genetic testing. Genet Test Mol Biomarkers 17(4):327–335.  https://doi.org/10.1089/gtmb.2012.0350 CrossRefGoogle Scholar
  10. Hitch K, Joseph G, Guiltinan J, Kianmahd J, Youngblom J, Blanco A (2014) Lynch syndrome patients’ views of and preferences for return of results following whole exome sequencing. J Genet Couns 23(4):539–551.  https://doi.org/10.1007/s10897-014-9687-6 CrossRefGoogle Scholar
  11. 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
  12. Lea DH, Kaphingst KA, Bowen D, Lipkus I, Hadley DW (2010) Communicating genetic and genomic information: health literacy and numeracy considerations. Public Health Genomics 14:279–289CrossRefGoogle Scholar
  13. Lubitz RJ, Komaromy M, Crawford B, Beattie M, Lee R, Luce J, Ziegler J (2007) Development and pilot evaluation of novel genetic educational materials designed for an unreserved patient population. Genet Test 11(3):276–290CrossRefGoogle Scholar
  14. 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
  15. 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
  16. Seo J, Ivanovich J, Goodman MS, Biesecker BB, Kaphingst KA (2016) Information topics of greatest interest for return of genome sequencing results among women diagnosed with breast cancer at a young age. J Genet Couns 26:511–521.  https://doi.org/10.1007/s10897-016-0006-2 CrossRefGoogle Scholar
  17. Shiloh S, Drori E, Orr-Urtreger A, Friedman E (2009) Being ‘at-risk’ for developing cancer: cognitive representations and psychological outcomes. J Behav Med 32(2):197–208.  https://doi.org/10.1007/s10865-008-9178-z CrossRefGoogle Scholar
  18. 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
  19. 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
  20. Wright MF, Lewis KL, Fisher TC, Hooker GW, Emanuel TE, Biesecker LG, Biesecker BB (2014) Preferences for results delivery from exome sequencing/genome sequencing. Genet Med 16(6):442–447CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Caren J. Frost
    • 2
  • Irene L. Andrulis
    • 1
  • Saundra S. Buys
    • 2
  • John L. Hopper
    • 3
  • Esther M. John
    • 4
  • Mary Beth Terry
    • 5
  • Angela Bradbury
    • 6
  • Wendy K. Chung
    • 5
  • Katherine Colbath
    • 2
  • Natalie Quintana
    • 2
  • Elizabeth Gamarra
    • 2
  • Brian Egleston
    • 7
  • Nina Galpern
    • 7
  • Lisa Bealin
    • 7
  • Gord Glendon
    • 1
  • Linda Patrick Miller
    • 8
  • Mary B. Daly
    • 7
    Email author
  1. 1.Lunenfeld-Tanenbaum Research Institute, Sinai Health SystemUniversity of TorontoTorontoCanada
  2. 2.University of UtahSalt Lake CityUSA
  3. 3.University of MelbourneMelbourneAustralia
  4. 4.Cancer Prevention Institute of CaliforniaFremontUSA
  5. 5.Columbia UniversityNew YorkUSA
  6. 6.University of PennsylvaniaPhiladelphiaUSA
  7. 7.Fox Chase Cancer CenterPhiladelphiaUSA
  8. 8.University of ChicagoChicagoUSA

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