Supreme Court New South Wales Medium Neutral Citation: Pederson v Northern NSW Local Health District [2020] NSWSC 741 Hearing dates: 12 June 2020 Date of orders: 17 June 2020 Decision date: 17 June 2020 Jurisdiction: Common Law Before: Campbell J Decision: See paragraph 20 Catchwords: CIVIL PROCEDURE – medical examinations – r 23.4 Uniform Civil Procedure Rules - whether order should be made for genetic testing – use of epidemiological evidence - whether the defendant should be able to explore possible epidemiological causes of the harm – interests of justice Legislation Cited: Uniform Civil Procedure Rules 2015 (NSW) r 23.4 Cases Cited: KF bnt RF v Royal Alexandra Hospital for Children [2010] NSWSC 891 Rowlands v State of New South Wales (2009) 74 NSWLR 715; [2009] NSWCA 136 Seltsam Pty Ltd v Ghaleb [2005] NSWCA 208; (2005) 3 DDCR 1 Seltsam v McGuiness (2000) 49 NSWLR 262; [2000] NSWCA 29 Category: Procedural and other rulings Parties: Luke Tyler Pederson by his tutor Amanda Sharon Pederson (Plaintiff) Northern NSW Local Health District (Defendant) Representation: Counsel: M. Cranitch SC with P. Woods (Plaintiff) L. Boyd (solicitor advocate) (Defendant) Solicitors: Somerville Laundry Lomax Solicitors (Plaintiff) Crown Solicitors Office (Defendant) File Number(s): 2012/388535 Judgment 1. By Notice of Motion filed on 25 February 2020, the defendant applies for an order under r 23.4 Uniform Civil Procedure Rules 2005 (NSW) for the medical examination of the plaintiff by way of, the taking of saliva samples for pathological testing for the purpose of genetic analysis. There is no doubt that the Court has power to order such an examination: Rowlands v State of New South Wales (2009) 74 NSWLR 715; [2009] NSWCA 136 at [31] – [36] (Hodgson JA), (Allsop P and Tobias JA agreeing); see also KF bnt RF v Royal Alexandra Hospital for Children [2010] NSWSC 891. 2. The question is whether in the exercise of my discretion the orders sought should be made in the particular circumstances of the present case. The plaintiff is a 10 year old boy. He sues by his tutor, his mother, the defendant health service in negligence for injuries suffered during his birth on 14 December 2009. His birth was induced by artificial rupture of the membranes, but his delivery was delayed due to shoulder dystocia causing him to suffer hypoxia ischemia encephalopathy (HIE) as a result of which he has suffered a number of serious disabilities. For present purposes, the most significant is the alleged development of Autistic Syndrome Disorder (ASD), diagnosed when Luke was 6 years and 3 months of age (24 March 2016). It is clear from the occupational therapy assessment report of Ms Castle-Burton of 25 October 2018 and the Statement of Personal Injury Particulars filed on 11 February 2019 that several million dollars distributed amongst various heads of damage are claimed as being substantially referable to Luke's ASD. 3. The defendant has admitted breach of the duty of care it owed to Luke in two respects: first it failed to ensure that an obstetrician was present at the time of his delivery; and secondly it failed to manage his shoulder dystocia in a timely manner. It is not clear whether the plaintiff's legal representatives are content with these admissions. 4. What is clear is that medical causation of Luke's ASD will be a substantial issue at the trial. The defendant accepts that Luke suffers ASD but not its connection to its admitted breach of duty. It may also be that if Luke is successful on the causation issue other factors relevant to the aetiology of his ASD, if any, would have an impact on issues going to the quantum of damages: Seltsam Pty Ltd v Ghaleb [2005] NSWCA 208; (2005) 3 DDCR 1. Nature of the issue and evidence germane to the application 1. I do not propose to review in detail and in writing the medical reports that have been provided to me concerning this issue. From my review of them I think the matter can be encapsulated by two references. Luke's case can be summarised adequately now by reference to the supplementary report of Professor Paul Colditz of 24 September 2018. Professor Colditz refers to the opinion of a treating specialist, Dr Michael Harbord, who expressed the opinion that Luke's ASD is a direct result of the HIE which occurred during his birth. Dr Harbord referred to an epidemiological study by Dr N Badawi et al entitled "Autism following a history of new born encephalopathy: more than a coincidence?"(2006) 48 Development Medicine & Child Neurology 85. The authors recorded that 5 percent of 239 children who had suffered neo-natal HIE were diagnosed with ASD compared to only 0.8 percent of a random sample of 564 infants delivered at term without the same neo-natal complications. The authors concluded that "children who had experienced new born encephalopathy were 5.9 times more likely to have been diagnosed with [ASD]" compared to the control group. 2. Professor Colditz' own professional experience has been that HIE is associated with behavioural disorders. Professor Colditz also referred to a meta-analysis undertaken in 2016 by "Madabbernia et al"; (citation omitted) that referenced a number of studies both less rigorous and less methodologically robust than the Badawi study, but also demonstrating an increased risk of ASD in infants born with "impaired gas exchange". 3. For present purposes the defendant principally relies upon the opinion of Professor Martin Delatycki, Consultant Clinical Geneticist, who expresses the opinion (Report 10 March 2019; Court Book Tab 12): "There are many causes of autism spectrum disorder. An underlying diagnosis can be made in about 25 percent of affected individuals. Causes include chromosomal abnormalities and single gene disorders. There is general agreement that chromosomal microarray … should be done for every child with autism spectrum disorder. This will identify a causative copy variant in 10 – 15 percent of individuals (citation omitted). There is also general agreement that testing for fragile X syndrome should be done for every child with autism spectrum disorder. This diagnosis underlies about 3 percent of autism spectrum disorder (citation omitted). Children with autism spectrum disorder should be examined for signs of a syndromic cause for their condition. That is, examination findings may suggest there is a broader condition present that is manifesting with features of autism spectrum disorder." 1. After describing the tests available Professor Delatycki suggested that it is possible to obtain "a definitive diagnosis" from tests results. But the degree of definition varies. Negative tests results do not "exclude a genetic cause for autism spectrum disorder since the cause may be in one of the genes examined but cannot be detected for technical reasons or in a gene that was not examined as that gene has not yet been discovered as a cause of genetic disorder": at [12]. 2. The parties have been unable to agree on the reasonableness of the testing proposed by the defendant. I should say from the evidence, it is clear that there has been a protracted negotiation concerning the matter. Initially, Luke's solicitors, doubtless on instructions from his tutor, agreed in principle to the testing being undertaken, subject to reaching agreement about the conditions to be observed. Despite what appeared to be near-agreement on several occasions differences have arisen which have prevented the testing being undertaken. It is unnecessary to detail all of those differences. Most recently on 13 November 2019, following a consultation and discussion between the plaintiff's parent and Dr Anna Hackett, a geneticist proposed by the defendant for the provision of a joint report there was disagreement about the proposed testing. 3. In her affidavit of 23 March 2020, Ms Pederson states ([4] – [7]): "My husband and I spoke to Dr Hackett at some length regarding what was being proposed for such testing to take place. We thought it might be over and done with on this day however, Dr Hackett requested that the whole family, including Luke, would have to attend and have blood samples taken at a location in Lismore. I did ask Dr Hackett what the DNA testing was actually going to prove. She said that the DNA testing could demonstrate some genetic predisposition to the development of autism in Luke however, the science was not quite certain as to any link between a defective gene and the development of autism. After this appointment I telephoned my lawyer and expressed my concern as to why Luke was having to go through this procedure. I told my lawyer that Luke would never agree to have a blood sample taken and in fact my husband and I would have to physically restrain him for anyone to take a blood sample. At the very most I think Luke would probably agree to have a saliva test taken however, it would very much depend on his behaviour at the time. If for whatever reason he became distressed and anxious then I do not think that he would even allow a saliva test to be taken. Given the uncertainty as to whether this testing will be able to demonstrate anything probative in Luke's case and further, the distress and anxiety that he currently already suffers as a result of having had to participate in numerous medical examinations and assessments, I do not believe that it's in Luke's best interest to undergo this genetic testing. If this testing were to proceed then I am extremely concerned about the long term implications for Luke of what the procedure itself might inflict upon his psychological wellbeing." Consideration and decision 1. It's evident that from the point of view of medical science, at least on the evidence in this case, the aetiology of ASD is uncertain. Both parties rely upon epidemiological studies to support what is at this stage their respective theories of the case. Luke's legal representatives reply upon, principally, the Badawi 2006 study to argue that children who suffered HIE like Luke, are "5.9 times more likely to have been diagnosed with ASD" compared to infants who did not experience that difficulty. The defendant relies upon the epidemiological studies referred to by Professor Delatycki to argue that a percentage of the cases where an underlying cause can be identified for ASD are associated with genetic predisposition. Bearing in mind that each theory of the case is propounded on the basis of epidemiology, it may be worth calling to mind the judgment of Spigelman CJ in Seltsam v McGuiness (2000) 49 NSWLR 262; [2000] NSWCA 29. In that case the Chief Justice expounded the principles governing the proper use of epidemiological evidence as a means of discharging the civil onus of proof when the cause of a condition is uncertain in medical science. His Honour said at [78]; [93] – [94]: [78] "Epidemiology is, as I have noted above, concerned with the study of disease in human populations. It is not, of itself, directed to the circumstances of an individual case. For the purpose of determining whether exposure to aparticular substance is the legal cause of a particular disease, epidemiology only provides evidence of possibility. … [93] With respect to many diseases, medical science is able to give clear anddirect evidence of a causal relationship between a particular act or omission and a specific injury or disease. There are, however, fields of inquiry where medical science is not able to give evidence of that character. There are cases in which medical science cannot identify the biological or pathological mechanisms by which disease develops. In some cases medical science cannot determine the existence of a causal relationship. Such a state of affairs is not necessarily determinative of the existence or non-existence of a causal relationship for purposes of attributing legal responsibility. Epidemiological evidence may be able to fill the gap. It is of particular potential utility in the field of what is often referred to as "toxic torts", especially in case of diseases with long latency periods. [94] In circumstances where the aetiology of a disease is uncertain, or subject to significant scientific dispute, the courts are not thereby disenabled from making decisions as to causation on the balance of probabilities. As Herron CJ said in EMI (Australia) Ltd v BES [1970] 2 NSWR 238 at 242: "Medical science may say in individual cases that there is no possibleconnexion between the events and the death, in which case, of course, if the facts stand outside an area in which common experience can be the touchstone, then the judge cannot act as if there were a connexion. But if medical science is prepared to say that it is a possible view, then, in my opinion, the judge after examining the lay evidence may decide that it is probable. It is only when medical science denies that there is any such connexion that the judge is not entitled in such a case to act on his own intuitive reasoning. It may be, and probably is, the case that medical science will find a possibility not good enough on which to base a scientific deduction, but courts are always concerned to reach a decision on probability and it is no answer, it seems to me that no medical witness states with certainty the very issue which the judge himself has to try."" 1. In the case at hand, medical science is prepared to say that it is possible that there is a connection between Luke's birth injury and his ASD. Equally medical science says it is possible that ASD has a genetic cause. The two may not be mutually exclusive. Whether one or other or both matters are in fact causes will depend upon a decision of fact on the balance of probabilities involving an inferential reasoning process in which all of the evidence, expert and lay, will be taken into account. As Herron CJ said in Bes, medical science may look for something approaching certainty before a scientific deduction is made. This is not the way the ordinary courts of justice operate. But it follows from this that there can be no objection to the defendant undertaking the line of investigation proposed even though the science is not certain. Equally the science connecting HIE with ASD is far from certain. But that consideration does not make the opinion of Dr Colditz inadmissible. As Spigelman CJ observed, the civil courts may draw an inference as to the probabilities "from a number of pieces of particular evidence, each piece of which does not itself rise above the level of possibility". Epidemiological studies and expert opinions based upon such studies "are able to form "strands in a cable" of a circumstantial case": Seltsam at [98]. 2. I infer from the material before me that given the nature of Luke's condition he has, very properly, been taken to a number of examinations with doctors and para-medical experts to define the nature of his disability and propose appropriate therapeutic measures, not primarily for the purpose of the litigation, but more particularly to improve his quality of life and prognosis. Leaving aside the health issues connected with the case, as a child cared for by loving parents he doubtless has received medical attention for general health issues including, probably, vaccination. These considerations indicate that with the support of his parents he ought to be able to cope with the proposed testing. 3. I take the concerns of Luke's mother seriously, but they are, with respect, insufficient to justify denying the defendant the opportunity to pursue this legitimate line of forensic enquiry. In any event, I think the concerns of the mother can be assuaged by the type of conditions on the order that Mr Cranitch SC has proposed, and which Ms Boyd does not object to which will be incorporated in my order. 4. Professor Delatycki says that a saliva swab may be sufficient to enable the genetic testing and analysis to be undertaken. The defendant does not seek more than this, but submits that my order should accommodate a second buccal swab lest insufficient material for the full battery of tests is produced by the first. Notwithstanding that saliva is generally considered to be a "DNA rich" fluid the evidence suggests that this is a possibility and I consider it reasonable to provide for a second buccal swab in preference to a blood sample, at least at this stage. Making every allowance for parental sensitivity and for the particular needs and limitations of Luke as disclosed in the evidence, as I have said, it does not seem to me to be unreasonable to require a buccal swab to be undertaken and if necessary a second swab to be taken. As I have indicated, in the course of his life for many legitimate purposes Luke may have had, and may in the future have, to submit to similarly, or more, invasive testing. I am sure that his parents will co-operate with the process, as Ms Pederson as tutor is bound to do. 5. Ultimately taking a saliva swab or indeed a second, sufficient for the testing ought to be a quick, relatively painless procedure through which Luke can be assisted by his parents. I must say I doubt very much whether such a procedure could possibly involve the risk of long term psychological damage. 6. The conditions proposed to by Mr Cranitch and agreed to by Ms Boyd are: testing be confined to no more than two buccal swabs; given Luke's ASD often makes it difficult for the family to travel, the sample should be obtained by a practitioner practising in the general locale in which the family live; that the privacy of Luke and the results of genetic testing be maintained so far as it is within the power of the defendant to achieve that; and that relevant genetic counselling be made available to the family at the defendant's expense, if necessary; a copy of the results of testing to be provided to the plaintiff's representatives in any event. I am satisfied that these are all appropriate conditions. 7. I also appreciate that Dr Anna Hackett said it would be preferable if the whole family participated in the testing. I understand from the material before me that the other members of the family have steadfastly decided against such participation. I am not of the view that this devalues the procedure or renders it otiose. 8. I am of the view that the interests of justice are best served by making the orders sought by the defendant. 9. My orders are, subject to observance of the conditions specified in [17] above under r 23.4 Uniform Civil Procedure Rule 2015 (NSW): 1. The plaintiff's tutor to facilitate his submission to the collection of saliva samples by a genetic counsellor or geneticists, at a time, date and location notified to the plaintiff's solicitors by the defendant's solicitor for the purposes of the following genetic testing: 1. Fragile X; 2. Array comparative genomic hybridisation; 3. Whole Exome sequencing; 4. Whole Genome sequencing. 1. In the event that the saliva samples obtained prove to be insufficient for complete testing, the plaintiff's tutor to facilitate the plaintiff submitting to the collection of further saliva samples by a genetic counsellor or geneticist for testing. 2. List the matter for directions before the Professional Negligence List Judge (Harrison J) at 9:30 a.m. on Friday 4 September 2020. 3. Liberty to the parties to apply to Harrison J's associate for earlier listing if the genetic testing is completed sooner. 4. Costs are costs in the cause. ********** DISCLAIMER - Every effort has been made to comply with suppression orders or statutory provisions prohibiting publication that may apply to this judgment or decision. The onus remains on any person using material in the judgment or decision to ensure that the intended use of that material does not breach any such order or provision. Further enquiries may be directed to the Registry of the Court or Tribunal in which it was generated. Decision last updated: 17 June 2020