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Preimplantation Genetic Diagnosis for Hereditary Cancers

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Reproductive Health and Cancer in Adolescents and Young Adults

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 732))

Abstract

Preimplantation genetic diagnosis (PGD) is a technique used to test embryos created by in vitro fertilization for disorders caused by inherited mutations in single genes. Embryos free from the germline mutation identified in the couple are transferred into the uterus to allow implantation and pregnancy. PGD enables couples with inherited disorders a means of ensuring that their children are unaffected by the disease without the need of termination of affected pregnancies. PGD for inherited susceptibilities to cancer encompasses a diverse group of genes with variable degrees of penetrance and expressivity often making genotype/phenotype relationships hard to establish. This is one of the factors that makes PGD a preferred option to potential parents compared to prenatal diagnosis and termination for this group of disorders.

For some people the thought of ‘designing’ their offspring is more than science fiction especially if they are carriers of genetic disorders such as cystic fibrosis or Von Hippel-Lindau disease. VHL is a hereditary condition which causes cysts and tumours to grow in different parts of the body. Onset of the disease normally occurs in your mid-twenties and there is no cure, only treatment and management of the symptoms. To some sufferers it’s an inconvenience; to others it’s a killer. I found out I had VHL when my father got kidney cancer and my sister and I were tested.

There is a 50% chance I’ll pass this vicious disease on to my children and the thought of starting a family is a complicated and sensitive issue. I always hoped to have children one day, but I risk passing on VHL and that may be both selfish and irresponsible. Talking about VHL for the first time with a partner is not easy – it’s an intensely personal issue and I find I can become incredibly emotional and irrational when discussing it.

My idea of having a baby used to involve vague fantasies of a memorable conception, months of yoga-filled healthy eating and an angelic looking baby somewhere at the end of it. VHL has forced me to take a more pragmatic approach to the whole procreation thing and to plan the best possible future for a child.

Until recently, the only real choices for couples in our position were adoption, donor egg or sperm or prenatal testing followed by a termination decision depending on the outcome of the test, or playing the odds and hoping for the best. However, thanks to the continuing advancement of medical science there is now a treatment available called PGD (pre-implantation genetic diagnosis), which may enable us to have children of our own and all but guarantee that I don’t pass my condition on. We would literally be ‘designing’ our baby using just my good genes, hopefully ensuring that VHL was not passed on to our children.

So should we have our ‘designer baby’ or not? I’m adamant that I don’t want to risk passing my condition on but I also know that I want to at least try to have my own children before I’d consider using a donor or adopting. This leaves PGD as the obvious choice but even if it’s successful it still raises several ethical questions. Will we be meddling with nature and is this just the first step towards couples being able to choose things such as eye and hair colour in their children? There’s also the issue of what happens to the embryos carrying the genetic fault. Somehow discarding a four cell embryo feels more acceptable than terminating an affected pregnancy, but ultimately every couple’s circumstances are different and I believe prospective parents have to make the decision that is right for them.

I know my father feels incredibly guilty about passing his illness on, even though it was not in any way his fault. I feel lucky that science and technology have given me the opportunity to at least try to have children without passing on VHL. It’s a big decision but I think we’ll probably follow the ‘designer baby’ route. But, I want to be sure our relationship is solid first before I really think about a baby.”

Kendra, Adult VHL patient

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Author information

Authors and Affiliations

  1. UCL Centre for PGD, Institute for Women’s Health, University College London, WC1E 6HX, London, UK

    Sioban B. SenGupta PhD

  2. Health Outcomes and Behavior Program, Department of Oncologic Science, Moffitt Cancer Center and Research Institute, Cancer Prevention and Control, University of South Florida, Tampa, FL, 33612, USA

    Susan T. Vadaparampil PhD, MPH

  3. Gynaecological Cancer Research Centre, Institute for Women’s Health, University College London, W1T 7DN, London, UK

    Usha Menon PhD

Authors
  1. Sioban B. SenGupta PhD
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  2. Susan T. Vadaparampil PhD, MPH
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  3. Usha Menon PhD
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Corresponding author

Correspondence to Sioban B. SenGupta PhD .

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Editors and Affiliations

  1. Moffitt Cancer Center, Magnolia Drive 12902, Tampa, 33612, Florida, USA

    Gwendolyn P. Quinn

  2. Moffitt Cancer Center, Magnolia Drive 12902, Tampa, 33612, Florida, USA

    Susan T. Vadaparampil

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SenGupta, S.B., Vadaparampil, S.T., Menon, U. (2012). Preimplantation Genetic Diagnosis for Hereditary Cancers. In: Quinn, G., Vadaparampil, S. (eds) Reproductive Health and Cancer in Adolescents and Young Adults. Advances in Experimental Medicine and Biology, vol 732. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-2492-1_8

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