Genetic mutations spark action

A Canberra family has been granted permission to include the mother’s GP in a negligence case involving their two children born with genetic mutations.

Canberra GP Dr Ranjana Curtotti is now the second defendant in the action against Genea Ltd. NSW Supreme Court Associate Justice Joanne Harrison late last year ordered Genea Genetics to pay $100,000 as an interim payment towards damages Leighee and Philip Eastbury are seeking.

The Eastburys allege Genea failed to conduct screening for pre-mutation and full-mutation Fragile X factor with due care and skill; used cytogenetic analysis methods instead of molecular methods; failed to follow guidelines published by the Human Genetics Society of Australasia; and failed to tell the Eastburys and/or the GP their analysis was “incapable of detecting pre-mutation Fragile X”, which could expand into full-mutation Fragile X in offspring.

Genea sought to include Dr Curtotti on the basis she failed to advise Mrs Eastbury in May and/or October 1999 to consult a genetic testing specialist or an obstetrician to get advice about her concerns about Fragile X Syndrome; failed to seek clarification or further information from Genea, Macquarie Pathology, a geneticist and/or an obstetrician about the meaning and effect of a 7 October 1999 test result sent to her by Genea; failed to warn Mrs Eastbury she did not understand the meaning and effect of Genea’s test result; and failed to warn that the test results did not establish Mrs Eastbury was not a carrier of the Fragile X gene.

The Eastburys’ son Hayden was born in 2008 and his brother Jacob in 2011.

In May 2012, Hayden was diagnosed with autism and global development delay. In July 2012, tests revealed Hayden had a full mutation-sized expansion of Fragile X, consistent with a diagnosis of Fragile X Syndrome.

In August 2012, Jacob had the same tests and received the same diagnosis.

A/J Harrison said both children had significant speech and language delays, behavioural and language difficulties, and neuro-developmental and physical features of Fragile X Syndrome. The Eastburys claimed neither child was likely to be able to live independently as an adult.

Mrs Eastbury’s uncle, her father’s twin brother, was diagnosed with Fragile X Syndrome in 1988, has needed a carer all his life, has limited expressive language and lives in a nursing home.

Mrs Eastbury was advised to undergo testing to find out if she and her father were carriers of the genetic mutation. She says always knew that was something she had to do before starting a family.

In September 1999, Mrs Eastbury consulted Dr Curtotti and discussed her concerns about being a Fragile X carrier and requested she be tested.

Dr Curtotti referred her to Macquarie Pathology Services for chromosomal testing for Fragile X, noting on the referral: “Uncle has a factor X mental retardation”.

The next day Mrs Eastbury went to Macquarie Pathology in Canberra where blood samples were taken.

Macquarie completed a referral to Sydney Genetic (now Genea) requesting “chromosome (Fragile X)”. It also noted “uncle has x-factor mental retardation”.

A/J Harrison said Macquarie Pathology had been deregistered and the parties were unable to locate its records.

In October 1999, Genea performed a chromosome analysis for Fragile X. The analysis could detect whether Mrs Eastbury had Fragile X but not her carrier status. For that, molecular testing was necessary.

Mrs Eastbury was informed by phone that the test result was negative. She said no hard copy of the test result was given to her.

In 2002 she met Mr Eastbury; they married in 2006. On the understanding Mrs Eastbury was not a Fragile X carrier, the couple started a family.

In August 2010, when her elder son Hayden was about two years old, Mrs Eastbury noticed he was having speech difficulties, compared to other children of the same age, and she soon realised his gross and fine motor skills were not developing in accordance with developmental milestones.

In September 2010, Mrs Eastbury took Hayden to a speech pathologist who was concerned there may be underlying factors to Hayden’s problems.

In May 2012, a paediatrician diagnosed him with autism and global development delay.

In August 2012, after multiple blood tests and a DNA test, Mrs Eastbury was told Hayden had Fragile X Syndrome.

Following Hayden’s positive result, Mrs Eastbury obtained a copy of her Genea test results dated 7 October 1999.

In August 2012, she asked her GP to refer her and Jacob for genetic testing.Jacob’s test results revealed he also had Fragile X Syndrome.

Mrs Eastbury said she was “devastated”.

The Eastburys’ claim for an interim damages payment relied on a report by geneticist Dr Amor, who said Genea, given the clinical information about Mrs Eastbury’s uncle’s mental retardation, ought to have performed molecular testing or referred the test to another laboratory to do that.

A/J Harrison said Genea’s senior counsel acknowledged the Eastburys’ expert’s report supported their case and, if they were successful at trial, they would receive substantial damages.

Genea denied liability, saying it was retained by Macquarie not the Eastburys or Mrs Eastbury’s GP.

In September/October 1999, Genea was capable only of conducting chromosomal analysis to determine whether a person was affected by Fragile X not their carrier status.

When Dr Curtotti told Mrs Eastbury “the result of the testing was negative”, that was a correct statement of the results of Genea’s testing.

Genea argued if there was a gap between the information sought and the information it provided, that was not its fault because it had no direct relationship or communication with the Eastburys and had accurately performed the test it was asked to conduct.

A/J Harrison said Justice Hall concluded, in the initial hearing, that, given the specific terms of Dr Curtotti’s request, Genea’s report was “effectively conveying or suggesting, or at least impliedly representing, in answer to Dr Curtotti's handwritten request, that Mrs Eastbury had no carrier status.

“Had both documents been read by Genea’s employee the basis and purpose for which the testing was being requested would have been made clear. If Genea could not provide an answer, it had to say so.”

A/J Harrison said she was satisfied it was more probable than not the Eastburys would successfully obtaining judgement for substantial damages.

She said both children required speech therapy, occupational therapy and behaviour management. The cost of treatment for the next two years was likely to exceed $28,000 for each child.

The couple received some financial assistance from the Department of Social Security under the Autism Early Intervention Program, but it was capped and ended when a child reached seven.

Both parents had psychological injuries flowing from the events surrounding their sons’ births.

Mr Eastbury was made redundant in May 2015 and had found part-time work, which substantially reduced his income. Mrs Eastbury could not work because of the children’s need for care and attention.

A/J Harrison said the Eastburys needed continuing psychiatric treatment and medication. They desperately needed respite care, but could not afford it.

She agreed to the interim payment because the children’s ages meant an accurate assessment of their damages would not be possible for at least three years.

“Reports then need to be obtained, a trial date allocated, the trial has to take place and a judgement given. On this scenario, the hearing date is at least four years in the future and the [Eastburys] will be obliged to make payments for the children’s medical needs until then.”

Eastbury v Genea Ltd (formerly known as Sydney IVF Ltd) [2015] NSWSC 1834 judgement 4/12/15