Regulating Preimplantation Genetic Diagnosis: The Pathologization Problem

Harvard Law Review, June 2005 | Go to article overview

Regulating Preimplantation Genetic Diagnosis: The Pathologization Problem


For decades--and especially since the successful cloning of Dolly the sheep in 1997 (1)--the potential application of new genetic technologies has inspired excitement, awe, and fear. (2) One such technology is already in use worldwide: preimplantation genetic diagnosis (PGD). Through PGD, embryos produced via in vitro fertilization (IVF) undergo genetic screening prior to their implantation into a woman's uterus in order to inform parental choice about which embryos to implant. (3) PGD is a bridge technology; it adds advances in genetic understanding to accepted and widely used IVF techniques in order to accomplish the familiar goal of prenatal screening. It will likely also act as a gateway to other, less familiar technologies, such as preimplantation genetic engineering. (4) An examination of the ethical and legal issues surrounding PGD, therefore, can offer insight into future technologies as well.

PGD raises many serious ethical concerns: To what information about embryos should parents have access? On what information may they base implantation choices? (5) While commentators have suggested highly variable answers to these questions, one normative framework is often repeated: PGD for therapeutic reasons is morally acceptable, but PGD for nontherapeutic reasons is not. (6) This Note examines one underexplored critique of this framework: the pathologization problem. Labeling a PGD decision "therapeutic" immediately pathologizes the trait at issue, thus harming people with that trait, constraining reproductive choices surrounding it, and ossifying negative social attitudes toward it.

After discussing PGD and different approaches to its regulation in Part I, this Note develops the pathologization problem further in Part II by presenting two case studies involving deafness and sexual orientation. Part III suggests two possible modifications to the therapeutic/nontherapeutic framework in response to the pathologization problem: permissively eliminating the therapeutic/nontherapeutic line and shifting that line to a less problematic location. Part IV evaluates the effects of these modifications and concludes.

I. PGD: WHAT IS IT AND HOW IS IT REGULATED?

A. The Process

PGD is the latest addition to a host of familiar prenatal screening techniques. Traditionally, prenatal genetic screenings take place after a woman is already pregnant, either through chorionic villus sampling (CVS), a technique in which a small piece of placental tissue is removed early in the pregnancy for genetic testing and chromosomal analysis, or through amniocentesis, in which amniotic fluid is removed during the second trimester and used for analysis. (7) A woman is thus faced with the choice whether to terminate her pregnancy based on the test results. PGD uses the same sort of genetic tests, but does so significantly earlier, before the embryo is implanted in a woman's uterus. Based on PGD test results, a woman must decide which embryos to implant, rather than whether to terminate a fetus.

PGD has been possible for over a decade and is currently available in at least seventeen countries. (8) It involves two stages: IVF and genetic testing. (9) In IVF, parental sperm and eggs are collected and brought together to create fertilized eggs. By their third day, the zygotes consist of about eight cells and are transferred to the woman's uterus. (10)

PGD's genetic tests are performed at the early preimplantation stage of a six- to ten-cell embryo. Clinicians remove one cell and analyze its DNA for certain genetic and chromosomal characteristics. Currently, a panoply of genetic tests are available, including those for cystic fibrosis, Tay-Sachs disease, Down syndrome, Hemophilia A, and sex. (11) The embryos selected for implantation are ultimately transferred to the woman's uterus; the extra embryos may be discarded or frozen for future use. (12)

It is important to distinguish between PGD and genetic engineering. …

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