Skip to main content
SpringerLink
Log in

Performing and Declining PGD: Accounts of Jewish Israeli Women Who Carry a BRCA1/2 Mutation or Partners of Male Mutation Carriers

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

To describe factors associated with preimplantation genetic diagnosis (PGD) decisions among Jewish Israeli BRCA1/2 carriers or spouses of a male carrier, we contacted all women who initiated PGD consultation for embryonic BRCA1/2 mutation detection at Sheba Medical Center, prior to March 2014. Applying a qualitative approach, we asked women to elaborate on the factors they considered in either opting for PGD or discontinuing the screening procedure. Participants were 18 Jewish Israeli women; 14 were carriers of one of the Ashkenazi founder mutations in BRCA1/2, and four were spouses of male mutation carriers, who underwent at least one cycle of PGD. Prior to seeking PGD, ten of the women had no children. At the time of the interview, all but three had at least one child. Three factors emerged as key motivators for PGD: having witnessed the disease in a close relative (n = 12); prior IVF treatment for infertility (n = 12); and having pre-existing frozen embryos (n = 6). Ten women withdrew from the PGD process due to clinical, logistical, and financial reasons. In conclusion, most women decided to withdraw from PGD instead of continuing until a successful conception was achieved. Those who opted for PGD attributed their discontinuation of further screening to the emotional burden that is greatly intensified by practical difficulties.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  • Aarden, E., Van Hoyweghen, I., Vos, R., & Horstman, K. (2009). Providing preimplantation genetic diagnosis in the United Kingdom, the Netherlands and Germany: a comparative in-depth analysis of health-care access. Human Reproduction, 24, 1542–1547.

    Article  PubMed  Google Scholar 

  • Akolekar, R., Beta, J., Picciarelli, G., Ogilvie, C., & D'Antonio, F. (2015). Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound in Obstetrics and Gynecology, 45, 16–26.

    Article  CAS  PubMed  Google Scholar 

  • Anders, C. K., Hsu, D. S., Broadwater, G., Acharya, C. R., Foekens, J. A., Zhang, Y., et al. (2008). Young age at diagnosis correlates with worse prognosis and defines a subset of breast cancers with shared patterns of gene expression. Journal of Clinical Oncology, 26, 3324–3330.

    Article  PubMed  Google Scholar 

  • Ao, A., Wells, D., Handyside, A. H., Winston, R. M., & Delhanty, J. D. (1998). Preimplantation genetic diagnosis of inherited cancer: familial adenomatous polyposis coli. Journal of Assisted Reproduction Genetics, 15, 140–144.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Brezina, P. R., Brezina, D. S., & Kearns, W. G. (2012). Preimplantation genetic testing. British Medical Journal, 345, e5908.

    Article  PubMed  Google Scholar 

  • Comen, E., Davids, M., Kirchhoff, T., Hudis, C., Offit, K., & Robson, M. (2011). Relative contributions of BRCA1 and BRCA2 mutations to “triple-negative” breast cancer in Ashkenazi women. Breast Cancer Research and Treatment, 129, 185–190.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Derks-Smeets, I. A., Gietel-Habets, J. J., Tibben, A., Tjan-Heijnen, V. C., Meijer-Hoogeveen, M., Geraedts, J. P., et al. (2014). Decision-making on preimplantation genetic diagnosis and prenatal diagnosis: a challenge for couples with hereditary breast and ovarian cancer. Human Reproduction, 29, 1103–1112.

    Article  CAS  PubMed  Google Scholar 

  • Douma, K. F., Aaronson, N. K., Vasen, H. F., Verhoef, S., Gundy, C. M., & Bleiker, E. M. (2010). Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis. European Journal of Human Genetics, 18, 186–193.

    Article  PubMed  Google Scholar 

  • Drazba, K. T., Kelley, M. A., & Hershberger, P. E. (2014). A qualitative inquiry of the financial concerns of couples opting to use preimplantation genetic diagnosis to prevent the transmission of known genetic disorders. Journal of Genetic Counseling, 23, 202–211.

    Article  PubMed  Google Scholar 

  • Eisinger, F., Alby, N., Bremond, A., Dauplat, J., Espié, M., Janiaud, P., et al. (1998). Recommendations for medical management of hereditary breast and ovarian cancer: the French National Ad Hoc Committee. Annals of Oncology, 9, 939–950.

    Article  CAS  PubMed  Google Scholar 

  • Fortuny, D., Balmana, J., Grana, B., Torres, A., Ramony Cajal, T., Darder, E., et al. (2009). Opinion about reproductive decision making among individuals undergoing BRCA1/2 genetic testing in a multicentre Spanish cohort. Human Reproduction, 24, 1000–1006.

    Article  PubMed  Google Scholar 

  • Franklin, S., & Roberts, C. (2006). Born and made: an ethnography of preimplantation genetic diagnosis. Princeton: Princeton University Press.

    Book  Google Scholar 

  • Handyside, A. H. (2010). Preimplantation genetic diagnosis after 20 years. Reproduction Biomedicine Online, 21, 280–282.

    Article  Google Scholar 

  • Hartmann, L. C., Degnim, A., & Schaid, D. J. (2004). Prophylactic mastectomy for BRCA1/2 carriers: progress and more questions. Journal of Clinical Oncology, 22, 981–983.

    Article  PubMed  Google Scholar 

  • HFEA-Human Fertilization and Embryo Authority. (2006). Authority decision on PGD policy. http://www.hfea.gov.uk/search.html?fldAdvSearchFor=pgd%2C+brca&fldFilter1=on&x=38&y=12#. Accessed 25 Aug 2015.

  • Hurley, K., Rubin, L. R., Werner-Lin, A., Sagi, M., Kemel, Y., Stern, R., et al. (2012). Incorporating information regarding preimplantation genetic diagnosis into discussions concerning testing and risk management for BRCA1/2 mutations: a qualitative study of patient preferences. Cancer, 118, 6270–6277.

    Article  PubMed  PubMed Central  Google Scholar 

  • Israel, Ministry of Health Directive (50/2006). (2006). Guidelines for PGD. Ministry of Health: Jerusalem, Israel. http://www.health.gov.il/hozer/mr50_2006.pdf. Accessed 25 Aug 2015, in Hebrew.

  • Julian-Reynier, C., Chabal, F., Frebourg, T., Lemery, D., Noguès, C., Puech, F., & Stoppa-Lyonnet, D. (2009). Professionals assess the acceptability of preimplantation genetic diagnosis and prenatal diagnosis for managing inherited predisposition to cancer. Journal of Clinical Oncology, 27, 4475–4480.

    Article  PubMed  Google Scholar 

  • King, M. C., Marks, J. H., Mandell, J. B., & New York Breast Cancer Study Group. (2003). Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. Science, 302, 643–646.

    Article  CAS  PubMed  Google Scholar 

  • Lincoln, Y. S., & Guba, E. G. (1985). Naturalistic inquiry. Newbury Park: Sage Press.

    Google Scholar 

  • Menon, U., Harper, J., Sharma, A., Fraser, L., Burnell, M., ElMasry, K., et al. (2007). Views of BRCA gene mutation carriers on preimplantation genetic diagnosis as a reproductive option for hereditary breast and ovarian cancer. Human Reproduction, 22, 1573–1577.

    Article  CAS  PubMed  Google Scholar 

  • Metcalfe, K., Gershman, S., Lynch, H. T., Ghadirian, P., Tung, N., Kim-Sing, C., et al. (2011). Predictors of contralateral breast cancer in BRCA1 and BRCA2 mutation carriers. British Journal of Cancer, 104, 1384–1392.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Moustakas, C. E. (1994). Phenomenological research methods. Thousand Oaks: Sage Press.

    Book  Google Scholar 

  • NHS Commissioning Board. (2013). Clinical Commissioning Policy: Pre-implantation Genetic Diagnosis. http://www.england.nhs.uk/wp-content/uploads/2013/04/e01-p-a.pdf. Accessed 25 Aug 2015.

  • Offit, K., Sagi, M., & Hurley, K. (2006). Preimplantation genetic diagnosis for cancer syndromes: a new challenge for preventive medicine. Journal of American Medical Association, 296, 2727–2730.

    Article  CAS  Google Scholar 

  • Ormondroyd, E., Donnelly, L., Moynihan, C., Savona, C., Bancroft, E., Evans, D. G., et al. (2012). Attitudes to reproductive genetic testing in women who had a positive BRCA test before having children: a qualitative analysis. European Journal of Human Genetics, 20, 4–10.

    Article  PubMed  Google Scholar 

  • Quinn, G. P., Vadaparampil, S., Wilson, C., King, L., Choi, J., Miree, C., & Friedman, S. (2009). Attitudes of high-risk women toward preimplantation genetic diagnosis. Fertility and Sterility, 91, 2361–2368.

    Article  PubMed  Google Scholar 

  • Quinn, G. P., Vadaparampil, S. T., Tollin, S., Miree, C. A., Murphy, D., Bower, B., & Silva, C. (2010). BRCA carriers’ thoughts on risk management in relation to preimplantation genetic diagnosis and childbearing: when too many choices are just as difficult as none. Fertility and Sterility, 94, 2473–2475.

    Article  PubMed  Google Scholar 

  • Quinn, G. P., Pal, T., Murphy, D., Vadaparampil, S. T., & Kumar, A. (2012). High-risk consumers’ perceptions of preimplantation genetic diagnosis for hereditary cancers: a systematic review and meta-analysis. Genetic Medicine, 14, 191–200.

    Article  Google Scholar 

  • Rapp, R. (1987). Moral pioneers: women, men and fetuses on a frontier of reproductive technology. Women’s Health, 13, 101–116.

    Article  CAS  Google Scholar 

  • Renzetti, C. M., & Lee, R. M. (1993). The problems of researching sensitive topics: an overview and introduction. In C. M. Renzetti & R. M. Lee (Eds.), Researching sensitive topics (pp. 3–13). Newbury Park: Sage Press.

    Google Scholar 

  • Robertson, J. A. (2003). Extending preimplantation genetic diagnosis: the ethical debate. Ethical issues in new uses of preimplantation genetic diagnosis. Human Reproduction, 18, 465–471.

    Article  PubMed  Google Scholar 

  • Robson, M. E., Chappuis, P. O., Satagopan, J., Wong, N., Boyd, J., Goffin, J. R., et al. (2004). A combined analysis of outcome following breast cancer: differences in survival based on BRCA1/BRCA2 mutation status and administration of adjuvant treatment. Breast Cancer Research, 6, R8–R17.

    Article  CAS  PubMed  Google Scholar 

  • Rubin, L. R., Werner-Lin, A., Sagi, M., Cholst, I., Stern, R., Lilienthal, D., & Hurley, K. (2014). ‘The BRCA clock is ticking!’: negotiating medical concerns and reproductive goals in preimplantation genetic diagnosis. Human Fertility (Cambridge), 17, 159–164.

    Article  Google Scholar 

  • Sagi, M., Weinberg, N., Eilat, A., Aizenman, E., Werner, M., Girsh, E., et al. (2009). Preimplantation genetic diagnosis for BRCA1/2--a novel clinical experience. Prenatal Diagnosis, 29, 508–513.

    Article  CAS  PubMed  Google Scholar 

  • Schwartz, G. F., Hughes, K. S., Lynch, H. T., Fabian, C. J., Fentiman, I. S., Robson, M. E., et al. (2009). Proceedings of the international consensus conference on breast cancer risk, genetics, & risk management, April, 2007. Breast Journal, 15, 4–16.

  • Simchoni, S., Friedman, E., Kaufman, B., Gershoni-Baruch, R., Orr-Urtreger, A., Kedar-Barnes, I., et al. (2006). Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population. Proceedings of the National Academy of Science U S A, 103, 3770–3774.

    Article  CAS  Google Scholar 

  • Sopik, V., Phelan, C., Cybulski, C., & Narod, S. A. (2015). BRCA1 and BRCA2 mutations and the risk for colorectal cancer. Clinical Genetics, 87, 411–418.

    Article  CAS  PubMed  Google Scholar 

  • Southey, M. C., Ramus, S. J., Dowty, J. G., Smith, L. D., Tesoriero, A. A., Wong, E. E. M., et al. (2011). Morphological predictors of BRCA1 germline mutations in young women with breast cancer. British Journal of Cancer, 104, 903–909.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Staton, A. D., Kurian, A. W., Cobb, K., Mills, M. A., & Ford, J. M. (2008). Cancer risk reduction and reproductive concerns in female BRCA1/2 mutation carriers. Familial Cancer, 7, 179–186.

    Article  PubMed  Google Scholar 

  • Strauss, A., & Corbin, J. (1998). Basics of qualitative research: techniques and procedures for developing grounded theory (2nd ed.). Newbury Park: Sage Press.

    Google Scholar 

  • Tur-Kaspa, I., Aljadeff, G., Rechitsky, S., Grotjan, H. E., & Verlinsky, Y. (2010). PGD for all cystic fibrosis carrier couples: novel strategy for preventive medicine and cost analysis. Reproduction Biomedicine Online, 21, 186–195.

    Article  CAS  Google Scholar 

  • Vadaparampil, S. T., Quinn, G. P., Knapp, C., Malo, T. L., & Friedman, S. (2009). Factors associated with preimplantation genetic diagnosis acceptance among women concerned about hereditary breast and ovarian cancer. Genetic Medicine, 11, 757–765.

    Article  Google Scholar 

  • Werner-Lin, A., Rubin, L. R., Doyle, M., Stern, R., Savin, K., Hurley, K., & Sagi, M. (2012). “My funky genetics”: BRCA1/2 mutation carriers’ understanding of genetic inheritance and reproductive merger in the context of new reprogenetic technologies. Family Systems Health, 30, 166–180.

    Article  Google Scholar 

  • Young, S. R., Pilarski, R. T., Donenberg, T., Shapiro, C., Hammond, L. S., Miller, J., et al. (2009). The prevalence of BRCA1 mutations among young women with triple-negative breast cancer. BMC Cancer, 9, 86.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

Acknowledgements

We are grateful to the women who participated in the interviews, for their efforts, for devoting their time, and for their willingness to share their experiences.

Author information

Authors and Affiliations

  1. Department of Nursing, University of Haifa, PO Box 3498838, Haifa, Israel

    Efrat Dagan & Daphna Birenbaum-Carmeli

  2. The Susanne-Levy Gertner Oncogenetics Unit, Sheba Medical Center, PO Box 52621, Tel Aviv, Israel

    Eitan Friedman

  3. Sackler School of Medicine, Tel Aviv University, PO Box 39040, Tel-Aviv, Israel

    Eitan Friedman

  4. Sheba Medical Center, The Danek Gertner Institute of Human Genetics, PO Box 52621, Tel Aviv, Israel

    Baruch Feldman

Authors
  1. Efrat Dagan
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Daphna Birenbaum-Carmeli
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Eitan Friedman
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Baruch Feldman
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Efrat Dagan.

Ethics declarations

Conflict of Interest

Efrat Dagan, Daphna Birenbaum-Carmeli, Eitan Friedman and Baruch Feldman declare that they have no conflict of interest.

Human Studies and Informed Consent

The study involved only interviewing human participants.

Each participant signed a written informed consent.

Animal Studies

No animal studies were carried out by the authors for this article.

Funding

This study was funded by the Israel Cancer Association through a grant to Efrat Dagan.

Ethical Approval

The study was approved by the Institutional Review Board at the Sheba Medical Center, Israel, and by the Ethical Committee at the University of Haifa, Israel.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Dagan, E., Birenbaum-Carmeli, D., Friedman, E. et al. Performing and Declining PGD: Accounts of Jewish Israeli Women Who Carry a BRCA1/2 Mutation or Partners of Male Mutation Carriers. J Genet Counsel 26, 1070–1079 (2017). https://doi.org/10.1007/s10897-017-0087-6

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10897-017-0087-6

Keywords

Search

Navigation