Genetic Testing !

The ultimate tragedy for most families is to bring a child into the world who will suffer a debilitating lifestyle because the genetics of its parents had the misfortune to pass on a rare disease such as Spinal Muscular Atrophy (SMA), cystic  fibrosis or fragile X syndrome.  Not only will that child's life be brief but the cost of medical treatment will be financially crippling.

Couples intending parenthood can have their genes tested at an out of pocket cost of about four hundred dollars, and some do.  If both parents have the same gene mutation this carries the risk to their children and in some cases they decide to remain childless - or abandon the intended union. Such decisions remove the ongoing risk that any surviving children become the carriers that continue to spread these diseases.

The federal government's Medical Research Futures Fund is contemplating offering free testing to detect up to five hundred outcomes that could affect  children conceived by parents with those gene mutations.   It is estimated that the disclosure rate from such a testing programme will be somewhere between one and three percent of those tested.   The chances of a couple both sharing the same gene mutation is very low.

This twenty million dollar trial plan is scheduled to start recruiting in 2019 and those tested will be told if their genes deliver a positive mismatch, but the decision on having children remains with them.  Those who decide to proceed to have children have a one in four chance that their child will be affected, and a one in two chance of that child being a carrier of the disease.

Unfortunately, love is not a rational emotion and some couples will only find out about their gene mismatch after an affected child is born.  It is hoped that genetic testing will become so widespread that these rare diseases will be wiped out, but we should also be aware that such testing may become a permanent stain on the medical record the government is insisting must be compiled on our Medicare file for instant referral in a medical emergency.

We are assured that our medical details will remain confidential and locked away until we choose to release them to treating medical professionals , but that precludes their intended use when that medical emergency prevents us giving that permission.  Ideally, that record needs to be available to all hospitals and doctors who find us in their hands.

Is it possible that a future government may forbid children to those with mismatched genes ?   Is it possible that children born in defiance of such a ban would be excluded from our free health system and their treatment made a charge on the parents ?  Would those with mismatched genes be excluded from volunteering as blood donors ?

By law, the results of any medical test known must be disclosed when asked on legal documents.  This is a marvellous chance to stop the birth of children with serious  genetically caused diseases by bringing the cause to the attention of intending parents, but we would be wise to consider all the future ramifications.