Fragile X carrier status testing before pregnancy

Eastbury v Genea Genetics [2014] NSWSC 1793 relates only to an interlocutory application for a limitation period extension. However the matter is of interest as it relates to the inheritance by two children of the Fragile X condition. The proposed claim by the parents is presumably of the wrongful birth type, and for mental harm.

The mother was aware of a history of Fragile X within her family so before pregnancy sought out testing (in 1999) to determine if she was a carrier of the condition. Testing was arranged by her general practitioner via a pathology laboratory which in turn sought the assistance of Genea for the testing.

Genea, as at September/October 1999, did not perform testing to establish the carrier status of Fragile X of an individual. The only testing Genea was capable of performing at that time was chromosomal analysis to determine whether a person presently was affected by Fragile X: [42].

Genea’s report was negative, but arguably did not answer the carrier status question asked by the mother of her general practitioner: [47]

The court examined issues as to potential prejudice but ultimately made an order extending the limitation period.

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