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Preimplantation Genetic Diagnosis

by Susan Vadaparampil, PhD and Gwen Quinn, PhD of The Moffitt Fertility Preservation Research Group

Preimplantation Genetic Diagnosis (PGD) is a medical procedure that allows people who carry a disease-causing hereditary mutation to have children who are free from the specific mutation that causes the disease.

The procedure for PGD includes in-vitro fertilization (IVF)—a fertility treatment where the women’s eggs are removed and fertilized in a test tube. When the embryos reach a certain size, one cell is removed and is tested for the hereditary disease in question. Once the genetic status is determined, the parents can decide which embryos they want implanted.

PGD has been used for hereditary diseases such as cystic fibrosis and Huntington’s disease for over a decade. Recently, there has been some debate among the medical community regarding its use for selecting embryos free of gene mutations such as BRCA1/2. Central to this debate is the issue of whether or not this procedure should be used for mutations such as BRCA which don’t cause cancer until adulthood, where not everyone who carries the trait will get cancer, and where there are options available for preventing cancer (such as chemoprevention and surgery).

Previously, this debate has taken place absent input from the BRCA community. Researchers from Moffitt Cancer Center in Tampa teamed up with FORCE to survey FORCE members about their knowledge of and attitudes about PGD. Results from this survey will be used to better address the information needs and design educational materials on PGD for couples who have been affected by hereditary breast and ovarian cancer and who are interested in this technology.

Findings from the survey include:

  • 79% of the respondents had never heard of PGD.
  • 29% thought PGD could be used for the wrong reasons such as creating “designer babies.”
  • 2% were shocked and offended knowing PGD existed, feeling that if their parents had used PGD, they would not exist.
  • 53% of the women surveyed felt PGD was an acceptable option to combat hereditary disease.
  • 33% would consider using PGD themselves.

This research is important because the medical community often develops educational materials and interventions for a particular group, without consulting that group on their needs and wants. This survey makes it clear that most people who might choose PGD are unaware of this option. More discussion is needed on the topic.

The research article will be published in an upcoming issue of Fertility and Sterility. Information on PGD will be presented at the 2008 Joining FORCEs Conference May 16-17 in Tampa, Florida. Visit www. facingourrisk.org/conference for more information.

The Moffitt Fertility Preservation Research Group in the Health Outcomes and Behavior Program of Moffitt Cancer Center is focused on examining the psychosocial and communication issues related to reproductive health among at-risk individuals.

More Information About PGD

Websites

www.emedicine.com/med/topic3520.htm

www.rhtp.org/fertility/pgd/default.asp

www.hfea.gov.uk/docs/Choices_and_ boundaries_Report_2006.pdf

www.dnapolicy.org/images/reportpdfs/PGDDiscussionChallengesConcerns.pdf

www.ihr.com/infertility/provider/preimplantation-genetic-diagnosis

Scientific Journal Articles Discussing PGD

Karen Sermon. Preimplantation genetic diagnosis. Lancet, 2004; Vol. 363, No. 9421: pages 1633-164.

Usha Menon. Views of BRCA gene mutation carriers on preimplantation genetic diagnosis as a reproductive option for hereditary breast and ovarian cancer. Human Reproduction, 2007; Vol. 22, No. 6: pages 1573-1577.

Kenneth Offit. Cancer genetic testing and assisted reproduction. Journal of Clinical Oncology, 2006; Vol . 24, No. 29; pages 4775-4782.

Parenting Options and Fertility After Cancer

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