The team at our Rand­wick Genomics lab­o­ra­to­ry at the Prince of Wales Hos­pi­tal has bro­ken new ground in Aus­tralian med­i­cine over the past 5 years, estab­lish­ing a range of crit­i­cal repro­duc­tive genom­ic ser­vices in NSW.

The Pre­Gen project pro­vides diag­nos­tic genom­ic test­ing for fetus­es with ultra­sound anom­alies in high-risk preg­nan­cies. Demon­strat­ing a clear genet­ic cause of dis­ease pro­vides the abil­i­ty to describe the like­ly qual­i­ty of life out­comes in those con­di­tions, which sup­ports cou­ples’ deci­sion-mak­ing at a stress­ful time.

The Repro­duc­tive Car­ri­er Screen project allows cou­ples to screen for the risk of up to 1,280 dif­fer­ent con­di­tions pri­or to preg­nan­cy and then use this infor­ma­tion for preim­plan­ta­tion genet­ic test­ing to enable them to have a child with­out the disorder.

The project has per­formed approx­i­mate­ly 3,000 cou­ple screens. Cou­ples found to be at high risk of hav­ing a child with a genet­ic con­di­tion are offered the oppor­tu­ni­ty for preim­plan­ta­tion genet­ic screen­ing and IVF so they can have an unaf­fect­ed child with high confidence.

These projects play a crit­i­cal role in reduc­ing the like­li­hood a cou­ple will deliv­er a new­born child with a severe genet­ic dis­or­der and have giv­en many cou­ples repro­duc­tive con­fi­dence and auton­o­my to estab­lish their families.

Repro­duc­tive genomics projects are com­plex activ­i­ties that require the inte­gra­tion of all pro­fes­sions in the lab­o­ra­to­ry – the peo­ple who receive the sam­ples, the lab case man­agers, tech­ni­cal and sci­en­tif­ic staff, bioin­fo­mati­cians and med­ical staff. All mem­bers of the team are involved, and their con­tri­bu­tions respect­ed and welcomed.