Start of the " McKenzie's Mission " !

Childbirth is a time of joy - and anxiety for most parents.  It is their fervent wish that the newborn will have ten little fingers and ten little toes - and everything in between will be in perfectly working order.

Unfortunately, that is not always so.  A small percentage of babies are born with genetic defects that limit their life span or cause them not to reach their life's potential and usually the cause is buried deep in their parents genetics.  It is the genetics of the parents that go on to create the genetics of the children they produce.

Now a twenty million dollar Federal government funded project named " McKenzie's Mission " is underway to test for seven hundred deadly diseases that could be passed on to children.  The would-be parents will be tested for some 1300 genetic mutations linked to more than 700 rare autosomal recessive and X linked genetic conditions, including spinal muscular atrophy, cystic fibrosis and fragile X syndrome.The project was named after baby McKenzie Casella who was diagnosed with the most extreme form of SMA.  McKenzie died in October 2017 at seven months old.

This landmark trial could pave the way for  population wide pre-conception carrier screening.  A handful of Sydney couples are among the first of thousands to use free genetic testing  for more than 700 genetic diseases that could be passed on to their children.  Testing by commercial companies has been available for some time but these tests covered only a handful of genetic conditions and cost between $300 and $600.  This government sponsored initiative is free.

Getting adverse testing results does not stop a couple producing children.  The aim of the project is to produce knowledge that pre-conception couples can take into their considerations when planning their futures.  Couples are provided with educational material  and talk through the process with a genetic counsellor.

At this stage, it is hoped to recruit ten thousand pre-conception couples to take testing. Having a baby with afflictions  is both emotionally and financially impacting and many couples will haver a sense of relief when they receive a clear testing result.  Such testing could become a rite of passage in the process of choosing a life partner.

Recruitment will ramp up at the end of January and it is hopeful that testing will be promoted through general practitioners  and the wider health spectrum.  This is a wise initiative that can only be helpful in ensuring that the birth of a child is a happy event  !