Genetic testing gone wrong

Genetic testing – how can it go wrong?

Australia claims to be a world leader in genetic testing and in the diagnosis of genetic abnormalities in the pre-implantation phase of IVF and the early pre-natal stage. With such touted expertise, we are entitled to expect accuracy in diagnosis, aren’t we? After all, the decision to proceed with the pregnancy will have profound consequences for parents, families and the affected child concerned if the results of the tests were wrong. In most cases the choice to have genetic testing arises because one of the parents suffers the genetic disorder themselves or is a carrier and does not want to burden a child with the genetic disorder. Unfortunately, genetic testing errors keep occurring despite the rhetoric from genetics laboratories as to their status as world leaders.

Despite butt-covering claims that the results were skewed because of ‘biological’ circumstances beyond laboratory detection, most of the mistakes in diagnosis arise because either the incorrect test was carried out (believe it or not), or the test was not carried out in accordance with accepted and adopted professional standards and protocols sufficient to exclude errant results.

The Law Office of Conrad Curry now has a number of cases where parents who have sought genetic testing, either as part of the IVF process at the embryo stage prior to transfer and implantation or through pre-natal diagnosis, have been let down by genetics laboratories with incorrect negative results. Now they are left with the responsibility of a life-long commitment to the care of profoundly disabled children. The personal, emotional and financial commitment is enormous and literally life changing. Whilst these parents are loving and devoted to their children (this cannot be denied), they are entitled to hold laboratories and genetic services to account, if no more than to provide for the health and allied health services required by their children to live the semblance of a normal life.

The Law Office of Conrad Curry is passionate in ensuring that individuals have a voice when affected by incorrect negative results or inaccuracy in genetic testing.

If you have been affected by negligence in genetic testing, please call us today to speak to our friendly team.

 

Fertility and pre-natal genetic testing

 

Medical negligence and reproductive negligence

Fertility and pre-natal genetic testing

Fertility and pre-natal genetic testing

Fertility and Pre-Natal Genetic Testing

Our principal, Conrad Curry represented a couple in a landmark case in the Supreme Court of New South Wales late last year, in which the couple resolved the first stage of their case against a major Australian Genetic Testing Laboratory.

The couple are the parents of two beautiful boys who have the genetic disorder – Fragile X Syndrome. The disorder is the biggest single gene cause of autism spectrum disorder and mental retardation in children worldwide. It is an hereditary X-dominant linked disorder which is passed down by parents to their children and can cause behavioural, developmental and intellectual disability. Typically, boys suffer the full affects of the disorder (to varying degrees) and girls are less affected and often carriers.

The mother’s uncle had been diagnosed with Fragile X and it was recommended that she too have testing before considering starting a family. Her G.P. referred her to a pathology service who took her blood and sent it off to the genetic testing laboratory requesting testing for carrier status. Unfortunately, testing was conducted which could only detect full mutation of the disorder and not carrier status. She was not advised, nor was her G.P., that the test which could detect carrier status was not used – the results returned were normal (a false negative).

The couple met, and started their relationship, married and conceived two children in the comfort and knowledge that their children would not be affected by the disorder. Both boys were affected by delayed development and after referral to a paediatrician and subsequent genetic testing they were diagnosed with Fragile X Syndrome. Mum had further (and appropriate) testing which revealed that she was in fact a carrier of the genetic disorder.

It is obvious that the couple love their children very much, but had they known that mum was a carrier they would have looked to different methods of parenting, or had in utero pre-natal testing to determine the genetic status of the foetus in the early stages of pregnancy.

They alleged that the laboratory was negligent and should have advised if the test conducted was incapable of determining the very issue for which the testing was conducted. Their case raises very significant and undetermined issues of law in wrongful birth law.

Conrad has also recently been instructed in several other genetic false negative cases in the context of IVF testing at embryonic stage and pre-natal testing by Chorionic Villus Sample. Watch this space for developments.