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Long-term experiences with genetic consultation in people with hereditary breast and ovarian cancer

  • Gynecologic Oncology
  • Published:
Archives of Gynecology and Obstetrics Aims and scope Submit manuscript

Abstract

Purpose

Advances in genetics and increased public awareness increased the demand for interdisciplinary genetic outpatient consultation (IOGC). Communicating cancer risk is complex, and ideally information transfer should be individualized. Although psychological experiences with genetic testing have been studied in detail, studies on long-term experiences with IOGC and information transfer are lacking. We assessed patients’ understanding and satisfaction with IOGC in families at risk of hereditary breast and ovarian cancer (HBOC) with the aim of informing best clinical practice, improving compliance and informed decision-making.

Methods

Female counselees referred for IOGC between July 1, 2009 and July 1, 2011 were eligible. Data were collected using a 47-item postal questionnaire to assess sociodemographic, psychological, behavioral parameters. Overall satisfaction and personal usefulness of IOGC were assessed with a five-point, and risk perception with a visual analog scale. Data were analyzed using Spearman rank, Wilcoxon U or Chi-squared test.

Results

612 (72 %) of 849 women participated reported being highly satisfied (75 %, n = 430) and declared personal usefulness (73 %, n = 421) on average 3.5 years after IOGC. Women deemed “high risk” assessed their risk of developing BC as significantly higher than non-high-risk counselees (3.2 versus 3.0, p = 0.00484). Risk perception was lower in BRCA1/2 mutation carriers than in women with unclassified variants or no mutation (2.8 versus 3.5 and 3.1, respectively).

Conclusion

Women with an HBOC background have additional needs to achieve long-term satisfaction after IOGC. Prospective studies are required to optimize care for the increasing number of people who seek genetic consultation, particularly as the complexity of genetics knowledge increases.

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References

  1. Chen S, Parmigiani G (2007) Meta-analysis of BRCA1 and BRCA2 penetrance. J Clin Oncol 25(11):1329–1333. doi:10.1200/JCO.2006.09.1066

    Article  PubMed  PubMed Central  Google Scholar 

  2. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, King MC (1990) Linkage of early-onset familial breast cancer to chromosome 17q21. Science 250(0036-8075 (Print)):1684–1689

    Article  CAS  PubMed  Google Scholar 

  3. DeutschesKonsortium (2015) Das Risiko als Chance nutzen. Konsortium Familiärer Brust- und Eierstockkrebs. http://www.konsortium-familiaerer-brustkrebs.de/. Accessed 17 Sept 2015

  4. Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, Nguyen K, Seal S, Tran T, Averill D (1994) Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 265(0036-8075 (Print)):2088–2090

    Article  CAS  PubMed  Google Scholar 

  5. Gadzicki D, Evans DG, Harris H, Julian-Reynier C, Nippert I, Schmidtke J, Tibben A, van Asperen CJ, Schlegelberger B (2011) Genetic testing for familial/hereditary breast cancer—comparison of guidelines and recommendations from the UK, France, the Netherlands and Germany. J Community Genetics 2(1868-310X (Print)):53–69

    Article  Google Scholar 

  6. Kaphingst KA, McBride CM (2010) Patient responses to genetic information: studies of patients with hereditary cancer syndromes identify issues for use of genetic testing in nephrology practice. Semin Nephrol 30(2):203–214. doi:10.1016/j.semnephrol.2010.01.011

    Article  PubMed  PubMed Central  Google Scholar 

  7. Lanie AD, Jayaratne TE, Sheldon JP, Kardia SL, Anderson ES, Feldbaum M, Petty EM (2004) Exploring the public understanding of basic genetic concepts. J Genet Couns 13(4):305–320

    Article  PubMed  PubMed Central  Google Scholar 

  8. Jonassaint CR, Santos ER, Glover CM, Payne PW, Fasaye G-A, Oji-Njideka N, Hooker S, Hernandez W, Foster MW, Kittles RA, Royal CD (2010) Regional differences in awareness and attitudes regarding genetic testing for disease risk and ancestry. Hum Genet 128(3):249–260. doi:10.1007/s00439-010-0845-0

    Article  PubMed  PubMed Central  Google Scholar 

  9. Kaphingst KA, Facio FM, Cheng M-R, Brooks S, Eidem H, Linn A, Biesecker BB, Biesecker LG (2012) Effects of informed consent for individual genome sequencing on relevant knowledge. Clin Genet 82(5):408–415. doi:10.1111/j.1399-0004.2012.01909.x

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  10. Lynch HT, Watson P, Tinley S, Snyder C, Durham C, Lynch J, Kirnarsky Y, Serova O, Lenoir G, Lerman C, Narod SA (1999) An update on DNA-based BRCA1/BRCA2 genetic counseling in hereditary breast cancer. Cancer Genet Cytogenet 109(2):91–98

    Article  CAS  PubMed  Google Scholar 

  11. Metcalfe KA, Liede A, Hoodfar E, Scott A, Foulkes WD, Narod SA (2000) An evaluation of needs of female BRCA1 and BRCA2 carriers undergoing genetic counselling. J Med Genet 37(11):866–874

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Brain K, Gray J, Norman P, Parsons E, Clarke A, Rogers C, Mansel R, Harper P (2000) Why do women attend familial breast cancer clinics? J Med Genet 37(3):197–202

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. Henneman L, Timmermans DR, van der Wal G (2004) Public experiences, knowledge and expectations about medical genetics and the use of genetic information. Community Genet 7(1):33–43. doi:10.1159/000080302

    PubMed  Google Scholar 

  14. Lodder L, Frets PG, Trijsburg RW, Meijers-Heijboer EJ, Klijn JG, Duivenvoorden HJ, Tibben A, Wagner A, van der Meer CA, van den Ouweland AM, Niermeijer MF (2001) Psychological impact of receiving a BRCA1/BRCA2 test result. Am J Med Genet 98(1):15–24

    Article  CAS  PubMed  Google Scholar 

  15. Meindl A, Ditsch N, Kast K, Rhiem K, Schmutzler RK (2011) Hereditary breast and ovarian cancer: new genes, new treatments, new concepts. Dtsch Arztebl Int 108(19):323–330. doi:10.3238/arztebl.2011.0323

    PubMed  PubMed Central  Google Scholar 

  16. Vetter L, Keller M, Bruckner T, Golatta M, Eismann S, Evers C, Dikow N, Sohn C, Heil J, Schott S (2016) Adherence to the breast cancer surveillance program for women at risk for familial breast and ovarian cancer versus overscreening: a monocenter study in Germany. Breast Cancer Res Treat. doi:10.1007/s10549-016-3748-5

    PubMed  Google Scholar 

  17. Kaphingst KA, McBride CM, Wade C, Alford SH, Reid R, Larson E, Baxevanis AD, Brody LC (2012) Patients’ understanding of and responses to multiplex genetic susceptibility test results. Genet Med 14(7):681–687. doi:10.1038/gim.2012.22

    Article  PubMed  PubMed Central  Google Scholar 

  18. Buchanan AH, Datta SK, Skinner CS, Hollowell GP, Beresford HF, Freeland T, Rogers B, Boling J, Marcom PK, Adams MB (2015) Randomized trial of telegenetics vs. in-person cancer genetic counseling: cost, patient satisfaction and attendance. J Genet Couns 24(6):961–970. doi:10.1007/s10897-015-9836-6

    Article  PubMed  Google Scholar 

  19. Kinney AY, Butler KM, Schwartz MD, Mandelblatt JS, Boucher KM, Pappas LM, Gammon A, Kohlmann W, Edwards SL, Stroup AM, Buys SS, Flores KG, Campo RA (2014) Expanding access to BRCA1/2 genetic counseling with telephone delivery: a cluster randomized trial. J Natl Cancer Inst 106(12):dju328. doi:10.1093/jnci/dju328

    Article  PubMed  PubMed Central  Google Scholar 

  20. Schwartz MD, Valdimarsdottir HB, Peshkin BN, Mandelblatt J, Nusbaum R, Huang AT, Chang Y, Graves K, Isaacs C, Wood M, McKinnon W, Garber J, McCormick S, Kinney AY, Luta G, Kelleher S, Leventhal KG, Vegella P, Tong A, King L (2014) Randomized noninferiority trial of telephone versus in-person genetic counseling for hereditary breast and ovarian cancer. J Clin Oncol 32(7):618–626. doi:10.1200/JCO.2013.51.3226

    Article  PubMed  PubMed Central  Google Scholar 

  21. O’Shea R, Meany M, Carroll C, Cody N, Healy D, Green A, Lynch SA (2015) Predictive genetic testing and alternatives to face to face results disclosure: a retrospective review of patients preference for alternative modes of BRCA 1 and 2 results disclosure in the Republic of Ireland. J Genet Couns. doi:10.1007/s10897-015-9887-8

    PubMed  Google Scholar 

  22. Jagsi R, Griffith KA, Kurian AW, Morrow M, Hamilton AS, Graff JJ, Katz SJ, Hawley ST (2015) Concerns about cancer risk and experiences with genetic testing in a diverse population of patients with breast cancer. J Clin Oncol 33(14):1584–1591. doi:10.1200/JCO.2014.58.5885

    Article  PubMed  PubMed Central  Google Scholar 

  23. Albada A, van Dulmen S, Dijkstra H, Wieffer I, Witkamp A, Ausems MG (2015) Counselees’ expressed level of understanding of the risk estimate and surveillance recommendation are not associated with breast cancer surveillance adherence. J Genet Couns. doi:10.1007/s10897-015-9869-x

    PubMed  PubMed Central  Google Scholar 

  24. Butow PN, Lobb EA, Meiser B, Barratt A, Tucker KM (2003) Psychological outcomes and risk perception after genetic testing and counselling in breast cancer: a systematic review. Med J Aust 178(2):77–81

    PubMed  Google Scholar 

  25. Sie AS, van Zelst-Stams WA, Spruijt L, Mensenkamp AR, Ligtenberg MJ, Brunner HG, Prins JB, Hoogerbrugge N (2014) More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling. Fam Cancer 13(2):143–151. doi:10.1007/s10689-013-9686-z

    PubMed  Google Scholar 

  26. Smit AK, Keogh LA, Hersch J, Newson AJ, Butow P, Williams G, Cust AE (2015) Public preferences for communicating personal genomic risk information: a focus group study. Health Expect. doi:10.1111/hex.12406

    PubMed  Google Scholar 

  27. Audrain J, Rimer B, Cella D, Garber J, Peshkin BN, Ellis J, Schildkraut J, Stefanek M, Vogel V, Lerman C (1998) Genetic counseling and testing for breast-ovarian cancer susceptibility: what do women want? J Clin Oncol 16(1):133–138

    CAS  PubMed  Google Scholar 

  28. Evans DG, Blair V, Greenhalgh R, Hopwood P, Howell A (1994) The impact of genetic counselling on risk perception in women with a family history of breast cancer. Br J Cancer 70(5):934–938

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  29. Chung C, Lee SJ (2013) Estimated risks and optimistic self-perception of breast cancer risk in Korean women. Appl Nurs Res 26(4):180–185. doi:10.1016/j.apnr.2013.06.001

    Article  PubMed  Google Scholar 

  30. Fehniger J, Livaudais-Toman J, Karliner L, Kerlikowske K, Tice JA, Quinn J, Ozanne E, Kaplan CP (2014) Perceived versus objective breast cancer risk in diverse women. J Womens Health (Larchmt) 23(5):420–427. doi:10.1089/jwh.2013.4516

    Article  Google Scholar 

  31. Kartal M, Ozcakar N, Hatipoglu S, Tan MN, Guldal AD (2014) Breast cancer risk perceptions of Turkish women attending primary care: a cross-sectional study. BMC Womens Health 14:152. doi:10.1186/s12905-014-0152-3

    Article  PubMed  PubMed Central  Google Scholar 

  32. Katapodi MC, Lee KA, Facione NC, Dodd MJ (2004) Predictors of perceived breast cancer risk and the relation between perceived risk and breast cancer screening: a meta-analytic review. Prev Med 38(4):388–402. doi:10.1016/j.ypmed.2003.11.012

    Article  PubMed  Google Scholar 

  33. Hauke J, Engel C, Wappenschmidt B, Müller RC, Hahnen E (2015) Classification of variants of unknown significance (VUS) in hereditary breast and ovarian cancer. Med Gen 27(2):211–216. doi:10.1007/s11825-015-0049-z

    CAS  Google Scholar 

  34. Peipins LA, McCarty F, Hawkins NA, Rodriguez JL, Scholl LE, Leadbetter S (2015) Cognitive and affective influences on perceived risk of ovarian cancer. Psychooncology 24(3):279–286. doi:10.1002/pon.3593

    Article  PubMed  Google Scholar 

  35. Molster C, Charles T, Samanek A, O’Leary P (2009) Australian study on public knowledge of human genetics and health. Public Health Genomics 12(2):84–91. doi:10.1159/000164684

    Article  CAS  PubMed  Google Scholar 

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Acknowledgments

This study was supported by the DGPFG e.V. Research Grant to SS.

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    Authors and Affiliations

    1. Department of Obstetrics and Gynecology, University Hospital Heidelberg, Im Neuenheimer Feld 440, 69120, Heidelberg, Germany

      Sabine Eismann, Lisa Vetter, Michael Golatta, André Hennings, Christoph Domschke, Christof Sohn, Jörg Heil & Sarah Schott

    2. Department of Psychosomatic, Internal Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 410, 69120, Heidelberg, Germany

      Monika Keller

    3. Institute of Medical Biometry and Informatics, University Hospital Heidelberg, Im Neuenheimer Feld 130.3, 69120, Heidelberg, Germany

      Thomas Bruckner

    4. Institute of Human Genetics, Heidelberg University, Im Neuenheimer Feld 440, 69120, Heidelberg, Germany

      Nicola Dikow

    5. DKTK, German Cancer Research Center, DKFZ Heidelberg, Heidelberg, Germany

      Sarah Schott

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    1. Sabine Eismann
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    Correspondence to Sarah Schott.

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    Ethical standards

    The local ethics committee of the University of Heidelberg had approved the study protocol. All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Informed consent was obtained from all individual participants included in the study.

    Conflict of interest

    There is no conflict of interest by any author. There is no financial relationship with the organization that sponsored the research. We have had full control of all primary data and we agree to allow the Journal to review our data if requested.

    Additional information

    S. Eismann and L. Vetter contributed equally to this work.

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    Eismann, S., Vetter, L., Keller, M. et al. Long-term experiences with genetic consultation in people with hereditary breast and ovarian cancer. Arch Gynecol Obstet 294, 1011–1018 (2016). https://doi.org/10.1007/s00404-016-4133-7

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    • DOI: https://doi.org/10.1007/s00404-016-4133-7

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