Familial Cancer

, Volume 9, Issue 3, pp 479–487 | Cite as

Knowledge, attitudes, and clinical experience of physicians regarding preimplantation genetic diagnosis for hereditary cancer predisposition syndromes

  • Amanda C. Brandt
  • Matthew L. Tschirgi
  • Kaylene J. Ready
  • Charlotte Sun
  • Sandra Darilek
  • Jacqueline Hecht
  • Banu K. Arun
  • Karen H. Lu


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.


Cancer predispositions FAP Healthcare professionals Hereditary breast and ovarian cancer Preimplantation genetic diagnosis Prenatal diagnosis 



Familial adenomatous polyposis


Gynecologic oncologists


Hereditary breast and ovarian cancer


In vitro fertilization


Multidisciplinary prenatal diagnosis team


Obstetrics and gynecologists


Preimplantation genetic diagnosis


Prenatal diagnosis


Society of gynecologic oncology


Texas association of obstetrics and gynecology



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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Copyright information

© Springer Science+Business Media B.V. 2010

Authors and Affiliations

  • Amanda C. Brandt
    • 1
  • Matthew L. Tschirgi
    • 3
  • Kaylene J. Ready
    • 2
  • Charlotte Sun
    • 1
  • Sandra Darilek
    • 4
  • Jacqueline Hecht
    • 5
  • Banu K. Arun
    • 2
  • Karen H. Lu
    • 1
  1. 1.Department of Gynecologic OncologyUniversity of Texas M. D. Anderson Cancer CenterHoustonUSA
  2. 2.Department of Breast Medical OncologyUniversity of Texas M. D. Anderson Cancer CenterHoustonUSA
  3. 3.Genzyme GeneticsDallasUSA
  4. 4.Department of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA
  5. 5.Department of PediatricsUniversity of Texas Health Science Center at Houston Medical SchoolHoustonUSA

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