Abstract
Approximately 5–10% of cancers are caused by an inherited predisposition. Individuals affected by hereditary cancer are often concerned about transmitting a predisposition to cancer to their children. Preimplantation genetic diagnosis (PGD) is a technology that allows embryos without a deleterious mutation associated with a hereditary cancer syndrome to be identified and implanted. The aim of this study is to assess the knowledge, attitudes, and clinical experience of physicians regarding PGD for hereditary cancer predisposition syndromes. Hereditary Breast and Ovarian Cancer (HBOC) and Familial Adenomatous Polyposis (FAP) are two hereditary cancer syndromes highlighted in this present study. A survey assessing physicians’ attitudes, knowledge, and clinical practice was completed by a total of 373 gynecologic oncologists (GYN ONCs) and obstetrics and gynecologists (OB/GYNs). Physicians had a limited knowledge of PGD for hereditary cancer; however, physicians reported PGD was an appropriate option for patients with either HBOC or FAP. Although GYN ONCs were more likely to care for patients with hereditary cancer (P < 0.001), they were less likely than OB/GYNs to refer their patients to a PGD specialist (P = 0.004). While 80% of GYN ONCs and 91% of OB/GYNs would refer patients to a PGD specialist, clinical experience indicates that only 29% actually referred their patients. Since 68% of physicians had incorrect or limited knowledge of PGD for hereditary cancer, there is a need for additional education.
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Abbreviations
- FAP:
-
Familial adenomatous polyposis
- GYN ONCs:
-
Gynecologic oncologists
- HBOC:
-
Hereditary breast and ovarian cancer
- IVF:
-
In vitro fertilization
- MPDT:
-
Multidisciplinary prenatal diagnosis team
- OB/GYNs:
-
Obstetrics and gynecologists
- PGD:
-
Preimplantation genetic diagnosis
- PND:
-
Prenatal diagnosis
- SGO:
-
Society of gynecologic oncology
- TAOG:
-
Texas association of obstetrics and gynecology
References
Coutelle C, Williams C, Handyside A, Hardy K, Winston R, Williamson R (1989) Genetic analysis of DNA from single human oocytes: a model for preimplantation diagnosis of cystic fibrosis. BMJ 299:22–24
Holding C, Monk M (1989) Diagnosis of beta-thalassemia by DNA amplification in single blastomeres from mouse preimplantation embryos. Lancet 2:532–535
Zitner A (2002) The nation: cloning receives a makeover politics: nuances of language helped reframe the debate and derail an all-out ban in congress. LA Times: Sect. A1
Peshkin BN, Nusbaum RH, DeMarco TA (2007) Genetic counseling about reproductive options for hereditary cancer: what is the standard of care? J Clin Oncol 25(7):911–912; author reply 913
Offit K, Sagi M, Hurley K (2006) Preimplantation genetic diagnosis for cancer syndromes: a new challenge for preventive medicine. JAMA 296(22):2727–2730
Braude P (2006) Preimplantation diagnosis for genetic susceptibility. N Engl J Med 355:541–543
Gibbons WE (2006) Preimplantation diagnosis for genetic susceptibility. N Engl J Med 355:2048
Caughey A, Hopkins L, Norton M (2006) Chorionic villus sampling compared with amniocentesis and the difference in the rate of pregnancy loss. Obstet Gynecol 108(3 Pt 1):612–616
Eddleman KA, Malone FD, Sullivan L, Dukes K, Berkowitz RL, Kharbutli Y et al (2006) Pregnancy loss rates after midtrimester amniocentesis. Obstet Gynecol 108(5):1067–1072
Sandelowski M, Barroso J (2005) The travesty of choosing after positive prenatal diagnosis. J Obstet Gynecol Neonatal Nurs 34:307–318
Asch A (1999) Prenatal diagnosis and selective abortion: a challenge to practice and policy. Am J Public Health 89(11):1649–1657
Rillstone P, Hutchinson SA (2001) Managing the reemergence of anguish: pregnancy after a loss due to anomalies. J Obstet Gynecol Neonatal Nurs 30:291–298
Kowalcek I (2007) Stress and anxiety associated with prenatal diagnosis. Best Pract Res Clin Obstet Gynaecol 21(2):221–228
Davis T, Song B, Cram D (2006) Preimplantation genetic diagnosis of familial adenomatous polyposis. Reprod Biomed Online 13(5):707–711
Jasper M, Liebelt J, Hussey N (2008) Preimplantation genetic diagnosis for BRCA1 exon 13 duplication mutation using linked polymorphic markers resulting in a live birth. Prenat Diagn 28(4):292–298
Zeiler K (2007) Complexities in reproductive choice: medical professionals’ attitudes to and experiences of pre-implantation genetic diagnosis. Hum Fertil 10(3):165–174
Simpson JL, Carson SA, Cisneros P (2005) Preimplantation genetic diagnosis (PGD) for heritable neoplasia. J Natl Cancer Inst Monogr 34:87–90
Offit K, Kohut K, Clagett B, Wadsworth E, Lafaro K, Cummings S, White M, Sagi M, Bernstein D, Davis J (2006) Cancer genetic testing and assisted reproduction. J Clin Oncol 24(29):4775–4782. **after simpson
Moutou C, Gardes N, Nicod JC, Viville S (2007) Strategies and outcomes of PGD of familial adenomatous polyposis. Mol Hum Reprod 13(2):95–101
Krouse R, Grant M, Ferrell B, Dean G, Nelson R, Chu D (2007) Quality of life outcomes in 599 cancer and non-cancer patients with colostomies. J Surg Res 138(1):79–87
Cappelli M, Surh L, Humphreys L, Verma S, Logan D, Hunter A, Allanson J (2001) Measuring women’s preferences for breast cancer treatments and BRCA1/BRCA2 testing. Qual Life Res 10(7):595–607
Eisinger F (2002) Medical counselling in the clinical management of BRCA mutation. J Exp Clin Cancer Res 21(3 Suppl):13–16
Kash KM, Holland JC, Halper MS, Miller DG (1992) Psychological distress and surveillance behaviors of women with a family history of breast cancer. J Natl Cancer Inst 84(1):24–30
Sun CC, Ramirez PT, Bodurka DC (2007) Quality of life for patients with epithelial ovarian cancer. Nat Clin Pract Oncol 4(1):18–29
Nathanson KL, Wooster R, Weber BL (2001) Breast cancer genetics: what we know and what we need. Nat Med 7(5):552–556
Musolino A, Bella MA, Bortesi B, Michiara M, Naldi N, Zanelli P, Capelletti M, Pezzuolo D, Camisa R, Savi M, Neri TM, Ardizzoni A (2007) BRCA mutations, molecular markers, and clinical variables in early-onset breast cancer: a population-based study. Breast 16(3):280–292
Liede A, Karlan B, Narod S (2004) Cancer risks for male carriers of germline mutations in BRCA1 or BRCA2: a review of the literature. J Clin Oncol 22(4):735–742
Narod S, Foulkes W (2004) BRCA1 and BRCA2: 1994 and beyond. Nat Rev Cancer 4(9):665–676
Thompson D, Easton D, Breast Cancer Linkage Consortium (2001) Variation in cancer risks, by mutation position, in BRCA2 mutation carriers. Am J Hum Genet 68(2):410–419
Strate LL, Syngal S (2005) Hereditary colorectal cancer syndromes. Cancer Causes Control 16(3):201–213
Galiatsatos P, Foulkes W (2006) Familial adenomatous polyposis. Am J Gastroenterol 101(2):385–398
Meister U, Finck C, Stöbel-Richter Y, Schmutzer G, Brähler E (2004) Knowledge and attitudes towards preimplantation genetic diagnosis in Germany. Hum Reprod 20(1):231–238
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. J Clin Oncol 27(27):4475–4480
Malkin D (2009) Prenatal diagnosis, preimplantation genetic diagnosis, and cancer: was hamlet wrong? J Clin Oncol 27(27):4446–4447
Quinn G, Vadaparampil S, King L, Miree C, Friedman S (2009) Conflict between values and technology: perceptions of preimplantation genetic diagnosis among women at increased risk for hereditary breast and ovarian cancer. Fam Cancer [Epub ahead of print]. doi:10.007/s10689-009-9263-7
Quinn G, Vadaparampil S, Wilson C, King L, Choi J, Miree C, Friedman S (2009) Attitudes of high-risk women toward preimplantation genetic diagnosis. Fertil Steril 91(6):2361–2368
Vadaparampil ST, Quinn GP, Knapp C, Malo TL, Friedman S (2009) Factors associated with preimplantation genetic diagnosis acceptance among women concerned about hereditary breast and ovarian cancer. Genet in Med 11(10):757–765
Clancy T (2010) A clinical perspective on ethical arguments around prenatal diagnosis and preimplantation genetic diagnosis for later onset inherited cancer predispositions. Fam Cancer 9(1):9–14. doi:10.1007/s10689-009-9271-7
Acknowledgments
This research was supported, in part, by a graduate fellowship from the M. D. Anderson Education Program in Cancer Prevention grant R25-CA56452 from the Nation Cancer Institute. The authors are grateful for SGO and TAOG for providing the study population and the Department of Institutional Research at M. D. Anderson Cancer Center for coordinating the survey, and to Maren K. Levin, MS, for editorial support.
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Brandt, A.C., Tschirgi, M.L., Ready, K.J. et al. Knowledge, attitudes, and clinical experience of physicians regarding preimplantation genetic diagnosis for hereditary cancer predisposition syndromes. Familial Cancer 9, 479–487 (2010). https://doi.org/10.1007/s10689-010-9343-8
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DOI: https://doi.org/10.1007/s10689-010-9343-8