Genetic Testing
The High Court has delivered an important decision in a case for family pursuing medical negligence claim involving delayed diagnosis of paediatric brain injury. In a decision by Mr Justice Garrett Simons, the Court held that genetic testing and clinical examination could proceed where the results were likely to have a meaningful bearing on the outcome of the case.
Background
The case concerns a child born in January 2020 who was admitted to St Luke’s General Hospital, Kilkenny, at just a few weeks old. She presented with reduced feeding, vomiting and pallor. Despite ongoing symptoms, including nystagmus, she was discharged without undergoing any head imaging. Her parents were advised that she was suffering from cow’s milk protein allergy and reflux.
Over the following days, her condition deteriorated. Her parents returned to the hospital on multiple occasions, but it is alleged that her medical file was unavailable and that they were advised to take her home. On 25 February 2020, a public health nurse identified concerning signs including increased head circumference, a bulging fontanelle and “sun‑setting” eyes.
Urgent imaging was then performed, revealing hydrocephalus with haemorrhagic features. The child was transferred to Temple Street Children’s Hospital for emergency neurosurgical intervention. Subsequent MRI findings confirmed a grade IV intraventricular haemorrhage with associated brain injury.
It is alleged that earlier diagnosis and treatment would have prevented or reduced the extent of the child’s injuries and resulting disabilities.
Application for Genetic Testing
The defendant hospital sought an order staying the proceedings until the child and her parents attended for clinical examination and provided cheek swab samples for trio exome sequencing. The defendant argued that the testing was necessary to determine whether an underlying genetic condition contributed to the child’s presentation.
The Court reaffirmed that while a plaintiff’s rights to privacy, bodily integrity and autonomy are fundamental, a defendant is entitled to defend proceedings without being unfairly impeded. The Court emphasised that the proposed testing was relevant, material and likely to influence the assessment of causation.
The Court’s Analysis
Mr Justice Simons noted the following:
- The only expert evidence before the Court was that of the defendant’s genetic specialist, who stated that clinicians had previously suspected a possible genetic diagnosis.
- The expert proposed detailed safeguards to ensure that the testing was proportionate, ethical and limited strictly to the issues in dispute.
- The plaintiff had not provided any medical evidence contradicting the expert’s opinion.
- Arguments that the child had suffered an “indivisible injury” did not remove the requirement to establish causation.
The Court also rejected submissions that previous genetic investigations were extensive and negative, finding that this contradicted the expert evidence that the genetic work to date was incomplete.
Balancing the rights of both parties, the Court held that the defendant’s ability to defend the proceedings would be impeded without the testing, and that the proposed safeguards adequately protected the child’s and parents’ rights.
Outcome
The High Court ordered that the proceedings be stayed until the clinical examination and trio exome sequencing are completed.
What This Means for Parents of Children with Additional Needs
This judgment highlights several important points for families pursuing medical negligence claims involving brain injury or delayed diagnosis:
- Courts may permit genetic testing where it is relevant to determining the cause of a child’s condition.
- Defendants are entitled to explore all potential explanations for an injury, including genetic factors.
- Parents’ rights to privacy and bodily integrity remain central, and courts will require robust safeguards before allowing such testing.
- Even in cases involving severe and life‑altering injuries, causation must still be established.
Supporting Families Through Complex Medical Negligence Claims
Cases involving infant brain injury, delayed diagnosis or additional needs are among the most complex and emotionally challenging areas of medical negligence law. Families often face uncertainty about their child’s future, alongside the stress of navigating medical and legal processes.
As solicitors specialising in birth injury claims, paediatric brain injury and medical negligence involving children with additional needs, we are committed to supporting families with compassion, clarity and expertise. We work to ensure that your child’s needs are fully recognised and that you receive the answers you deserve.
If you have concerns about the care your child received, our team can provide sensitive, confidential advice on steps for moving forward with a legal investigation.
