The High Court has ordered genetic testing of a six-year-old child and her parents before her medical negligence action against the Health Service Executive can proceed.
The child, identified only as C., alleges that failures at St Luke’s General Hospital in Kilkenny during February 2020 delayed diagnosis and treatment of hydrocephalus associated with intracranial bleeding. Her case is that the delay contributed materially to permanent neurological injury and disability.
The HSE has admitted some breaches of duty, including failures to measure the child’s head circumference on hospital visits. It has not admitted that those failures caused or materially contributed to her current condition.
The HSE sought an examination by consultant clinical and biochemical geneticist Dr Samantha Doyle and trio exome sequencing involving saliva swabs from the child and both parents.
Dr Doyle’s evidence was that the child’s developmental delay, early-onset obesity, dysmorphic features and ventriculomegaly made an underlying genetic diagnosis likely. She said previous genetic investigations had been limited and that trio exome sequencing was the gold-standard test in a case of this type.
The child’s legal team opposed the testing on grounds including privacy, bodily integrity, data security and the potential for incidental genetic findings. They also argued that the child had suffered an indivisible injury for which the HSE could be liable in full if its negligence made more than a negligible contribution.
Mr Justice Garrett Simons held that there was currently no medical evidence supporting that causation argument. By contrast, the HSE’s genetic evidence was uncontradicted and could materially affect the outcome of the case.
The judge found that safeguards around counselling, consent, laboratory security, restricted analysis and destruction of retained DNA adequately addressed the privacy concerns.
The proceedings were therefore stayed until the child and her parents attend the genetics assessment and provide buccal swabs. The judge provisionally awarded the HSE the costs of the motion, with enforcement stayed until after the High Court trial.