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McGill Reporter
March 7, 2002 - Volume 34 Number 12
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To the editor:

The basic science work on mitochondrial diseases for which Eric Shoubridge recently received support from "one of the world's choosiest foundations" is certainly exciting, but would that he had been "choosier" in how he describes the potential applications of his laboratory findings ("The Reporter," 21 February).

Whatever Professor Shoubridge learns about hypertrophic cardiomyopathy, parents with a previously affected child cannot today "reduce the odds [of having another offspring with the disease] to zero [from 25%] through genetic counselling."

Yes, parents can choose to have genetic counselling; and yes, they can choose to undergo prenatal diagnosis. However, while tests during pregnancy can reveal the status of the SURF 1 gene in the fetus, thereby alerting parents as to whether the fetus does or does not have the condition of concern, these tests do NOT prevent the disease.

Test results only allow parents to "choose," if they opt for abortion, to prevent the birth of a child with the condition, quite another thing. And even if in vitro fertilization is used, and only embryos shown by genetic testing not to have the mutation of concern are implanted, parents can only avoid giving birth to a baby with hypertrophic cardiomyopathy, with this, again, after the fact.

Primary prevention means that something has not happened in the first place; genetic diagnoses, whether pre- or post-implantation, don't do this. They merely provide some limited information on the basis of which women may choose to prevent certain births.

Abby Lippman
Departments of Epidemiology and Biostatistics and Human Genetics

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