Genome sequencing for obstetricians & gynaecologists

Abstract

The medical profession has been waiting for a decade to be invigorated by the sequencing of the human genome, arguably the greatest scientific project ever. The technology has been spectacular but the results of the project have yielded more unexpected results than definitive answers – many about the very nature of our human genome and our microbiome. While a few direct benefits have become apparent, the anticipated torrent of clinical applications has not yet materialised. The vast numbers of naturally occurring mutations (or polymorphisms) has surprised scientists and sifting through the variations to pinpoint meaningful and irrelevant aberrations is a daunting task. Understanding the association of sequence abnormalities, both single and multiple, with pathology will allow the prediction of the risk of developing a disorder but it is already clear that risk and manifestation are not easily calculated. The presence of a mutation does not mean a resulting condition will inevitably appear. The interpretation of sequencing is still in its infancy, as are the rules, guidelines and recommendations regarding what information about a genome is released, to whom and what a genomic sequencing laboratory’s present and future obligations are. Genome sequencing is a new science, much younger than assisted reproduction, and developments in the clinical, moral, ethical, legal and commercial aspects of gene sequencing have to be addressed by doctors. It is our obligation to join that debate.

Obstetrics & Gynaecology Forum • October 2013