Wells by his tutor McGuffog v Hunter New England Local Health District

Hearing of the Defendant's Application

1. The hearing of the Amended Notice of Motion proceeded before me on 18 October 2018 and 7 November 2018.
2. The Defendant was represented by Mr Woods of counsel and the Plaintiff by Mr Hirsch of counsel.
3. At the hearing of the Amended Notice of Motion, the Defendant read affidavits of Ashleigh Clancy sworn 21 September 2018 and 11 October 2018. In addition, the Defendant tendered a supplementary report dated 18 October 2018 of Associate Professor Michael Fahey (Exhibit A) together with a folder containing reports of a number of expert medical witnesses (Exhibit B).
4. The Plaintiff relied upon the affidavit of Digby Dunn affirmed 28 September 2018. In addition, the Plaintiff took the Court to two articles which had been referred to in the reports of Associate Professor Fahey (MFI2).
5. Written submissions were furnished on behalf of the Defendant and the Plaintiff and counsel spoke to these submissions at the hearing.

Proceedings Commenced by the Plaintiff

1. The background to the present application is taken from the affidavits of Ashleigh Clancy and Digby Dunn. The 1999 District Court Proceedings Arising from a Motor Vehicle Accident
2. On 19 April 1999, the Plaintiff commenced proceedings in the District Court against Donald Richard Graham (as Defendant). These proceedings arose out of a motor vehicle accident on 25 September 1996, in which Mr Graham was the driver of a motor vehicle involved in the accident. The Plaintiff was in utero at the time of this accident and it is common ground that the accident precipitated labour. The Plaintiff was delivered at Manning Base Hospital during the evening of 25 September 1996. It is alleged that he experienced a period of hypoxia prior to delivery.
3. The Plaintiff alleges that he suffered a brain injury because of the accident and that this was the cause of his injuries and disabilities as pleaded in the District Court Statement of Claim. He alleges that this was caused or contributed to by the trauma of the accident whilst he was in utero, the hypoxia prior to delivery in labour precipitated by the accident, or both.
4. Mr Graham admits breach of duty for the accident, but disputes that this caused the Plaintiff's brain injury.
5. On 29 September 2017, the Plaintiff filed a Statement of Particulars in the District Court proceedings.
6. On 18 December 2017, the District Court claim was transferred to the Supreme Court. The 2017 Supreme Court Proceedings Against the Defendant
7. By Statement of Claim filed on 14 September 2017, the Plaintiff has sued the Defendant alleging negligence in relation to his birth on 25 September 1996. The Plaintiff pleads that a breach of duty of care on behalf of the Defendant has caused or contributed to conditions including hypoxic brain damage, oromotor dysfunction, speech, language and communication deficits, fine and gross motor dysfunction, learning difficulties, global developmental delay, behavioural disorders, mild cognitive disability and mild autism.
8. On 5 February 2018, a direction was made that the motor vehicle accident claim and the medical negligence claim be heard together. The evidence in one is to be evidence in the other.
9. The Defendant filed a Defence on 9 May 2018. No admissions were made as to breach of duty of care, causation and damage.
10. The Plaintiff has not yet filed a Statement of Particulars in the proceedings against the Defendant.
11. On 19 April 2018, the solicitors for Mr Graham (who was insured with NRMA Insurance) filed a Cross Claim seeking contribution or indemnity against the Defendant claiming that, if the Plaintiff's brain injury was caused or contributed to by hypoxia, this was the fault of the hospital (and thus the Defendant).
12. On 21 August 2018, the solicitors for the Defendant filed a Defence to the Cross Claim.
13. The Defendant has not yet filed a Cross Claim seeking contribution or indemnity against Mr Graham (or NRMA Insurance).
14. Given the admission of breach of duty in the motor vehicle accident claim and the absence of any expert evidence disputing breach of duty in the medical negligence claim, it may be taken that the live issue in both cases is causation with respect to the Plaintiff's brain injury.
15. A date for the hearing of the two sets of proceedings has not yet been fixed. The Court was informed that a date for mediation was to be fixed, but that aspect was deferred pending resolution of the present application.

Background to the Present Application for Genetic Testing

1. Once again, the following matters are drawn from the affidavits of Ashleigh Clancy and Digby Dunn.
2. The foundation for the present application by the Defendant arises from a series of reports by Associate Professor Fahey, paediatric neurologist and clinical geneticist. Associate Professor Fahey has furnished reports dated 8 July 2018, 30 September 2018 and 18 October 2018, to which I will return.
3. Extensive expert evidence has been served by the Plaintiff and Mr Graham in the motor vehicle accident proceedings. Included in the expert reports in support of the Plaintiff's case are reports from: 1. Dr Ross Keenan, neuroradiologist, dated 12 October 2016; 2. Dr George Williams, neonatologist and paediatrician, dated 31 January 2017; 3. Dr Michael Harbord, paediatric neurologist, dated 21 September 2017.
4. In broad terms, Dr Keenan expressed the opinion that the neuroradiology revealed brain injury consistent with a traumatic or hypoxic cause. Dr Williams considered that the Plaintiff's brain injury had a hypoxic cause. Dr Harbord expressed the opinion that the brain injury was caused by trauma with some contribution by hypoxia.
5. The solicitors for Mr Graham in the motor vehicle accident proceedings have served an expert report from Professor Robert Ouvrier, paediatric neurologist, dated 22 September 2014.
6. The solicitors for Mr Graham obtained reports from experts that raised the possibility that the Plaintiff's injuries and disabilities were due to a genetic disorder. Dr Williams and Dr Harbord expressed the opinion that the Plaintiff did not have a genetic disorder.
7. At the request of Mr Graham's solicitors, the Plaintiff undertook genetic testing by Dr Mary-Louise Freckmann, clinical geneticist, which took place in February 2017. Dr Freckmann's report of 19 April 2017 was served upon the solicitors for the Plaintiff and the Defendant on 4 September 2018. According to her report, Dr Freckmann reviewed previous testing and arranged for microarray genetic and other testing. She concluded that the Plaintiff did not have a genetic syndrome that would explain his intellectual disabilities and that further testing had a "low probability of yielding a definitive molecular genetic diagnosis".
8. Following receipt of Dr Freckmann's report, the solicitors for the Plaintiff approached Dr Freckmann to comment upon the then available reports of Associate Professor Fahey, and to comment on the utility of further genetic testing to find a cause of the Plaintiff's intellectual disabilities. After communications with the solicitors for Mr Graham, Dr Freckmann indicated in emails of 18 and 21 September 2018 to the Plaintiff's solicitors that she declined the request to supply an expert opinion to them.
9. In the absence of any further report from Dr Freckmann, the solicitors for the Plaintiff sought a further report from Dr Williams. Although he is not a clinical geneticist, Dr Williams provided a report dated 27 September 2018 upon which the Plaintiff relies in opposing the orders sought by the Defendant in the Amended Notice of Motion.
10. Further reference will be made to particular parts of the medical evidence but, before doing so, it is appropriate to refer to legal principles governing this application.

Applicable Legal Principles

1. Before the promulgation of rules of Court providing for medical examination of parties to civil proceedings, the Court had no power to order a person to submit to a medical examination, but could direct that an action be stayed unless the plaintiff submitted to examination by doctors nominated by the defendant: Kurnell Passenger and Transport Service Pty Limited v Randwick City Council (2009) 230 FLR 336; [2009] NSWCA 59 ("Kurnell") at 354-355 [79].
2. Rule 23.2 UCPR entitles a party in proceedings, where a person's physical or mental condition is relevant to a matter in question, to give notice for that person to attend for medical examination: "23.2 Notice for medical examination (cf SCR Part 25, rule 2; DCR Part 23, rule 2; LCR Part 20, rule 2) (1) Any party other than the first party may serve on the first party a notice for the medical examination of the person concerned. (2) A notice for medical examination is to be in the form of a request that the person concerned submit to examination by a specified medical expert at a specified time and place."
3. Rule 23.4 UCPR provides for the Court to make an order for medical examination: "23.4 Order for examination (cf SCR Part 25, rule 5; DCR Part 23, rule 5; LCR Part 20, rule 5) (1) The court may make orders for medical examination, including an order that the person concerned submit to examination by a specified medical expert at a specified time and place. (2) If the court orders that the person concerned submit to examination by a medical expert, the person must do all things reasonably requested, and answer all questions reasonably asked, by the medical expert for the purposes of the examination."
4. Rule 23.9 UCPR provides for default in compliance with a notice or order made under Part 23: "23.9 Default (cf SCR Part 25, rule 10; DCR Part 23, rule 10; LCR Part 20, rule 10) (1) If a party makes default in compliance with this Part, or a notice or order under this Part, the court may give or make such judgment or such order as it thinks fit, including: (a) if the party in default is a plaintiff, an order that the proceedings be dismissed as to the whole or any part of the relief claimed by the party in the proceedings, or (b) if the proceedings were commenced by statement of claim and the party in default is a defendant, an order that the party's defence be struck out and that judgment be given accordingly. (2) If a person for whose benefit relief is being claimed, not being a party, makes default in compliance with this Part, or an order under this Part, the court may give such judgment, or make such order, as it thinks fit, including an order that the proceedings be dismissed as to the relief so claimed. (3) This rule does not limit the powers of the court to punish for contempt."
5. An order for medical examination under Rule 23.4 UCPR extends to and includes orders for tests including blood tests, x-rays, CAT scans and MRIs: Rowlands v State of New South Wales (2009) 74 NSWLR 715; [2009] NSWCA 136 ("Rowlands") at 726 [31], 730 [61]. The power to order medical examination has been utilised in cases where blood testing is undertaken for the purpose of genetic testing: KF by her tutor RF v Royal Alexandra Hospital for Children known as the Children's Hospital Westmead and Anor [2010] NSWSC 891 ("KF"); Plowman v Sisters of St John of God Inc [2014] NSWSC 333 ("Plowman"); Zraika (by his tutor Halima Zraika) v Walsh [2014] NSWSC 1774 ("Zraika"); McDonald v Ng; McDonald (by his tutor Prudence McDonald) v Ng [2018] NSWSC 1050 ("McDonald").
6. In opposing the present application, counsel for the Plaintiff relied upon statements by the House of Lords in S v S [1972] AC 24, referred to in the decision of the Western Australian Court of Appeal in Furesh v Schor (2013) 45 WAR 546; [2013] WASCA 231 at 556 [50] and 562 [78], where emphasis was placed upon the common law principle that a person has a right of control and self-determination in respect of his or her body, so that the taking of a mouth swab or a blood sample from the person impinges upon the bodily integrity of the person and should not be undertaken in the absence of legislative sanction.
7. It should be observed immediately that arguments of this type were advanced in the Court of Appeal in Rowlands, by reference to the earlier decision of that Court in Fernando v Commissioner of Police (1995) 36 NSWLR 567 where the Court invoked the well-known principles emerging from Coco v The Queen (1994) 179 CLR 427; [1994] HCA 15. The Court in Rowlands held (at 725-726 [27]-[36]) that Part 23 UCPR authorised medical examination and associated testing, and that those provisions differed significantly from those considered in Fernando v Commissioner of Police.
8. Accordingly, the Plaintiff derives no assistance from Furesh v Schor where (it should be noted) no reference was apparently made to the decision of the Court of Appeal in Rowlands.
9. As noted by Hallen J in Kohari v NSW Trustee and Guardian [2016] NSWSC 1372 ("Kohari") at [39], the Court in Furesh v Schor held that the Court had no inherent jurisdiction to make an invasive order for DNA testing. However, his Honour observed (as relevant in Kohari) that statutory power existed for such an order in s.26 Status of Children Act 1996. In the present context, power exists for an order for genetic testing in Rule 23.4 UCPR.
10. The power granted to the Court in Rule 23.4 UCPR is discretionary and the discretion is to be exercised judicially having regard to factors relevant to the exercise of discretion in the particular case: KF at [21]; Hamilton v State of New South Wales [2013] NSWSC 1437 ("Hamilton") at [49]; Plowman at [31].
11. It is not the role of the Court, in determining an interlocutory application for genetic testing, to attempt to reach firm conclusions about the medical issues between the parties: KF at [47]; Hamilton at [51]. That said, there must be sufficient evidence that the proposed testing has the capacity to throw light on the issues in the proceedings: KF at [49]; Hamilton at [51]; Plowman at [75], [83]; Zraika at [37]-[38].
12. It may be that there is disagreement between medical experts as to whether genetic testing is likely to shed light on the issues in dispute in the proceedings. In determining an interlocutory application of this type, the Court is not purporting to consider (let alone decide) the findings which may be made at a final hearing having regard to all the evidence. Rather, the application for medical examination is adjectival in nature with the question being whether the medical examination (including blood sampling) called for here could possibly throw light on the issues in the proceedings: KF at [49].
13. The Court should keep in mind the potentially far-reaching operation of orders for genetic testing and the possible uses to which such testing can be put. As observed in KF at [61], the fact that testing of this type may be undertaken at all is, of course, the product of contemporary scientific and medical progress. The Court should be alive to the controversy concerning genetic testing and its possible uses. Reference was made in KF at [61] to the judgment of Ipp JA in Harriton v Stephens (2004) 59 NSWLR 694; [2004] NSWCA 93 at 746-747 [338]-[347]. After referring to developments in this area, and the scope for scientific and human benefits in that respect, Ipp JA observed at 747 [347] that as "geneticists and medical practitioners constantly warn, ethical and legal difficulties that will arise from this novel area of human endeavour are infinite and are as yet unfathomable".
14. Concerns of this type ought not stand in the way of the making of an order under Rule 23.4 UCPR in an appropriate case. Where a proper basis for an order is demonstrated, it is appropriate to confine the examination to be undertaken to testing which is relevant to the issues in the proceedings, and the purposes of testing should be identified with clarity in any order made by the Court: KF at [62]-[63].
15. A further issue to be considered is whether there is any particular factor relevant to the Plaintiff which would tell against ordering the testing proposed: Plowman at [79]; Zraika at [40]. The degree of intrusion and distress which may result for the Plaintiff is relevant to this aspect as well: KF at [60].
16. Also relevant to the exercise of discretion is the timing of the application and its proximity to the final hearing (if already fixed): KF at [51]-[59]; Zraika at [42].

Submissions of the Defendant

1. In support of the application, Mr Woods noted the undertaking of the Defendant to pay all costs associated with the testing and to serve a copy of all reports produced.
2. Counsel for the Defendant submitted that this is complex litigation in which more than 100 expert witness reports have already been prepared in the years which have passed since the motor vehicle accident and birth of the Plaintiff in 1996. He submitted that it is clear from the damages alleged in the Statement of Claim that this is a large monetary claim. It was emphasised that the claim against the Defendant is that its breach of duty caused or contributed to the Plaintiff's injury, loss and damage. It will be necessary for the trial Judge to make a determination as between the extent (if any) to which the motor accident was causative of the Plaintiff's injury or damage compared to the extent (if any) to which events at the hospital were causative of damage.
3. Mr Woods submitted that the expert reports served for the Plaintiff and the Defendant indicate that causation of the Plaintiff's injuries and disabilities is strongly in issue, and that this is the live issue in relation to which medical examination (involving genetic testing) is sought: Plowman at [74].
4. Mr Woods referred to a number of the expert reports.
5. He submitted that Dr Freckmann concluded that the Plaintiff fell into a group characterised by "non-syndromal intellectual disability". The genetic testing conducted to date, according to Dr Freckmann, "does not exclude all deletions or duplications", only those bigger than 200kb. Dr Freckmann accepted that the investigations undertaken thus far on the Plaintiff are "not exhaustive". Dr Freckmann accepted that the existence of an underlying genetic cause for non-syndromal intellectual disability has been estimated to be present in 25% to 50% of cases, and she stated that "testing for such a condition would be through Next Generation Sequencing". Mr Woods noted that this was the testing which the Defendant proposes ought be done pursuant to the present application.
6. Associate Professor Fahey stated that Whole Exome Sequencing (often referred to as Next Generation Sequencing) "allows examination of the DNA at a much higher resolution than was previously possible". He stated that Next Generation Sequencing reveals the cause of developmental disorder in over 25% of individuals with complex neurodevelopmental disorders, and in up to 60% in those with childhood apraxia of speech. He stated specifically that such pathogenic or "likely pathogenic" genetic changes may not be identified on the microarray testing already undertaken on the Plaintiff.
7. Associate Professor Fahey stated that comparing the DNA of the subject person to their parents can be an effective diagnostic strategy and can provide a high diagnostic yield. Mr Woods submitted that it was for this reason that the Defendant seeks an order relating to the Plaintiff's tutor.
8. In Associate Professor Fahey's initial report of 8 July 2018, he stated that he did not believe that the Plaintiff's disabilities were indicative of brain damage caused by an actual hypoxic event in the perinatal and/or postnatal period.
9. Professor Ouvrier stated that "the precise label" for the Plaintiff's "complex developmental/behavioural disorder is unclear …". The clinical history, however, would not favour a diagnosis of neonatal encephalopathy due to hypoxia-ischemia or of hypotension sufficient to produce brain damage or the MRI abnormalities which have been discovered. Professor Ouvrier went on to state that "The pattern of neurodevelopmental and predominantly behavioural abnormalities evinced by Master Wells is not of the type expected as a sequel of a late prenatal traumatic or a perinatal hypoxic-ischemic event". Professor Ouvrier stated that Dr Shnier, Dr Christie and himself were "of the view that the changes seen on MRI are not characteristic of intra-uterine brain injury or of hypoxic-ischemic damage".
10. Considering the combination of the problems affecting the Plaintiff, Dr Mark Selikowitz stated that "the combination of these disorders, all well recognised as being predominantly caused by genetic factors, and often being associated with one another (co-morbid) because of shared genes, still makes me consider a prenatally determined, genetic cause as the most likely".
11. Dr James Christie concluded that the appearance of abnormalities on the MRI are non-specific and that the brain is structurally normal.
12. Dr Barry Wyeth concluded that the Plaintiff's "immediate postnatal and perinatal cause was not consistent with the recognised clinical cause of hypoxic-ischemic encephalopathy".
13. Mr Woods relied upon Boral Transport Pty Limited v Gulic [2013] NSWCA 150, submitting that there was a live issue in this case with respect to causation so that an order for medical examination should be made. He submitted that the proposed testing had the capacity to throw light on the issue in the proceedings, and that the Court should be satisfied that there is an issue of substance which will be illuminated by the results of the test to be undertaken, although the Court does not have to be satisfied that the issue will be determined ultimately in the Defendant's favour: Hamilton at [51]; Plowman at [74].
14. Insofar as it could be said that there may be a difficult and complex decision concerning the identity of persons to whom the results of genetic testing ought be provided (Plowman at [82]), Mr Woods submitted that an appropriate response to concerns of this type may be addressed by application for orders restricting the publication of information, but that this was not a reason for refusing an order in the first place.
15. Mr Woods submitted that the Plaintiff has undertaken a number of medical examinations, diagnostic tests, imaging and genetic testing over an extended period of time and that these have occurred in the context of treatment and the motor vehicle accident proceedings, and now the present proceedings. The Plaintiff had served a number of reports relating to some of these examinations and, it was submitted, the Defendant ought to be able to conduct proper investigations in response.
16. Mr Woods took the Court to the supplementary report of Associate Professor Fahey dated 18 October 2018 (Exhibit A) where it was said that testing of the Plaintiff alone with a whole genome "offers a reasonable chance of identifying a pathogenic change" (page 5). Associate Professor Fahey maintained his opinion that there was no evidence of hypoxic brain damage and that "the genetic testing would not identify this" (page 6).
17. Mr Woods submitted that the reports of Associate Professor Fahey support the contention that genetic testing is appropriate. He submitted that the reports clearly demonstrate the capacity of the proposed genetic testing to illuminate an issue of substance or to throw light on an issue in the proceedings.
18. Counsel for the Defendant submitted that his client is entitled to explore the cause or causes of the Plaintiff's injuries and disabilities by way of genetic testing, and that it was immaterial whether the result of such testing would ultimately be of assistance to the Defendant.
19. Mr Woods emphasised statements of Spigelman CJ in Seltsam Pty Limited v McGuiness (2000) 49 NSWLR 262; [2000] NSWCA 29 concerning the task for a court where medical science is not conclusive. Spigelman CJ (at 276-277 [89]-[96]) referred to causation being an issue to be established by a process of inference, drawing upon the concept of circumstantial evidence.
20. Spigelman CJ said in Seltsam Pty Limited v McGuinness at 278 [98]: "The Courts must determine the existence of a causal relationship on the balance of probabilities. However, as is the case with all circumstantial evidence, an inference as to the probabilities may be drawn 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 on such studies are able to form 'strands in a cable' of a circumstantial case."
21. Mr Woods submitted that the process the Court will adopt at trial will involve a complex analysis of the entirety of the evidence (medical, lay, expert and non-expert). After hearing the witnesses, making assessments as to the credit and reliability of their evidence and examining the documentary evidence, the trial court must weigh the whole of the evidence to determine whether the party bearing the legal onus has proved his or her case: Nguyen v Tran [2018] NSWCA 215 at [55].
22. Mr Woods submitted that, having regard to the medical evidence served by the parties, an issue to be determined by the Court at the final hearing of this matter is whether the Plaintiff suffers from the consequences of an intrapartum injury. He submitted that the making of an order for genetic testing will facilitate the just, quick and cheap resolution of the real issues in dispute in the proceedings keeping with the dictates of s.56 Civil Procedure Act 2005: KF at [36].
23. Counsel submitted that the Defendant is entitled to take reasonable steps, including the use of court processes, to ensure that issues which may bear upon the determination of the proceedings are assessed so that the trial Judge is in a position to determine the real issues in dispute in the proceedings: KF at [36].
24. Concerning the application for medical examination by genetic testing of the Plaintiff's tutor (his mother), Mr Woods recognised that there was no authority arising from a contested case in support for such an order. He recognised that what was said in Kurnell at 355 [80] did not support the application.
25. Reference was made to Yakmor v Hamdoush (No. 2) (2009) 76 NSWLR 148; [2009] NSWCA 284 where it was held, for the purpose of costs, that a tutor was a party for the purpose of Rule 42.3 UCPR (at 156-157 [44]-[45]). That said, Mr Woods acknowledged that, as a general principle, a number of cases had stated that a tutor or next friend is not a party to the action: Yakmor v Hamdoush (No. 2) at 155 [38].
26. Counsel drew the Court's attention to the decision in McDonald where an order was made under Rule 23.4 UCPR for each of the plaintiff and his mother to provide a blood sample for the purpose of whole genome testing. It was acknowledged, however, that the plaintiff's mother was a separate plaintiff in the proceedings and that, in any event, no argument had been advanced in that case with respect to medical examination of the plaintiff's tutor as such.
27. Counsel submitted that there was no evidence to suggest that the Plaintiff, or the Plaintiff's tutor, have any particular difficulties in relation to the taking of a blood sample (see [47] above).

Submissions for the Plaintiff

1. Mr Hirsch submitted that the orders sought were unduly broad, without a defined purpose for the test being identified so that (if made), it could encompass all manner of genetic conditions unrelated to the case. At the least, a defined purpose for the test was required: KF at [13].
2. Counsel for the Plaintiff submitted that Rule 23.1 UCPR did not empower a court to compel non-parties to submit to medical examinations: Kurnell at 355 [79]-[80]. Accordingly, an order of this type could not be made against the Plaintiff's mother as tutor, nor could a stay be ordered if she did not undertake such testing.
3. Mr Hirsch accepted that the causation of the Plaintiff's claimed injuries is a question in issue in the proceedings. He accepted, as well, that a potential genetic cause for these had been raised in the motor vehicle accident proceedings by various experts for Mr Graham and had been adopted by service of those reports by the present Defendant in the medical negligence proceedings.
4. He submitted that the Plaintiff had voluntarily submitted to a medical examination by a clinical geneticist (Dr Freckmann) and that the results of those tests did not indicate a genetic abnormality. In response to an enquiry from the solicitors for Mr Graham as to whether the Plaintiff required any further testing in order to confirm any diagnosis made, Dr Freckmann said: "In my opinion Cameron's features fit within the spectrum of non-syndromal intellectual disability. In my opinion, further testing has a low probability of yielding a definitive molecular genetic diagnosis."
5. Mr Hirsch agreed that the threshold requirement on the application was for the Defendant to establish that the proposed medical test would illuminate, or shed light on a question in the proceedings. He submitted that it was for the Defendant to tender sufficient evidence that the proposed exomic genetic testing had the capacity to throw light on the cause of the Plaintiff's intellectual disability. He submitted that the Defendant must demonstrate the proposed genetic testing may reasonably be expected to illuminate the cause of the Plaintiff's intellectual disability.
6. Mr Hirsch sought to challenge the rationale of Associate Professor Fahey insofar as reliance was placed upon two articles - Bowling et al, "Genomic Diagnosis for Children with Intellectual Disability and/or Developmental Delay", Genome Medicine (2017) 9:43 and Worthey et al, "Whole-Exome Sequencing Supports Genetic Heterogeneity in Childhood Apraxia of Speech", Journal of Neurodevelopmental Disorders (2013) 5.29 (being the articles contained in MFI2).
7. Counsel submitted that the correct approach on this application is to ask whether the findings in the Bowling and Worthey studies can fairly be said to apply to the Plaintiff's case at all, with the response to that question being in the negative.
8. It was submitted that the Bowling study applied to persons with substantial or severe intellectual and developmental disabilities, with the evidence in this case pointing to the Plaintiff as falling within the mild disability category because his IQ scores were above that and in the low-average to average range. Accordingly, it was submitted that the Bowling study did not illuminate or shed light on the Plaintiff's intellectual disability.
9. It was submitted that the Worthey study considered only children with childhood apraxia as defined in the study as being "a neurological childhood (paediatric) speech sound disorder in which the precision and consistency of movements underlying speech are impaired in the absence of neuromuscular deficits (eg, abnormal reflexes, abnormal tone)". It was submitted that this description did not apply to the Plaintiff, so that the Worthey study did not illuminate or shed light on the Plaintiff's intellectual disability.
10. It was submitted that the statistics referred to by Associate Professor Fahey are not an accurate representation of the report of Dr Freckmann from which they are drawn. Counsel submitted further that the genetic testing already undertaken by Dr Freckmann has, for all practical purposes, eliminated a genetic cause for the Plaintiff's intellectual and developmental disabilities, leaving only the possibility of finding a genetic cause in those circumstances where the scientific evidence shows that exomic genetic testing has found something, where other conventional testing for intellectual disability has not.
11. It was submitted that the Defendant had not provided sufficient evidence that exomic genetic testing could illuminate or shed light on the Plaintiff's intellectual disabilities. Mr Hirsch submitted that the application remained essentially speculative in nature, based upon a bare allegation, so that it did not have a capacity to throw light on the issues in the proceedings: KF at [49]. He submitted that it was, in truth, a fishing expedition.
12. It was submitted that the Defendant was not assisted by the attempted reliance upon Dr Freckmann's statement that the testing undertaken by her was "not exhaustive". It was submitted that Dr Freckmann's opinion was that further testing would not be useful. Mr Hirsch observed that the Plaintiff had not been able to obtain further clarification from Dr Freckmann in circumstances where she had, in effect, not been permitted to speak to the solicitors for the Plaintiff by the solicitors for Mr Graham.
13. Counsel submitted that the potential quantum of the Plaintiff's claim did not affect the legal requirement that there must be sufficient evidence that the proposed testing has the capacity to throw light on the issues in the proceedings. Further, he submitted that the causation issue in this case is not as complex as the Defendant asserts. Counsel submitted that causation here was no more complex than many other personal injury cases where a plaintiff's claimed injuries and disabilities could be due to multiple causes or a cause different to the one alleged.
14. Mr Hirsch submitted that, unlike KF, the Plaintiff in this case has already submitted to genetic testing with Dr Freckmann. He argued that this case is not about whether genetic testing should be permitted at all. Rather, it is about whether, after genetic testing for the Plaintiff's intellectual disability demonstrated no support for a genetic cause, a new and different test should be ordered. It was submitted for the Plaintiff that the evidence relied upon by the Defendant did not demonstrate that a new and different test could illuminate or shed light on the cause of the Plaintiff's intellectual disability so that an order for medical examination should not be made.
15. Counsel submitted that Associate Professor Fahey's opinion was directed to the cause of the Plaintiff's brain damage, and not the associated issue as to whether hypoxia contributed to the Plaintiff's brain damage.
16. Mr Hirsch developed an argument that Associate Professor Fahey cannot rely upon the report of Professor Ouvrier and that he had not been provided with Dr Harbord's report which squarely addressed the issue of contribution by hypoxia.
17. In these circumstances, he submitted that the Defendant cannot assert that the medical evidence categorically excluded the possibility that trauma, hypoxia or a combination of the two can account for the Plaintiff's intellectual disabilities.
18. Mr Hirsch submitted that nothing said by Spigelman CJ in Seltsam Pty Limited v McGuiness assists the Defendant on the present application.
19. Whilst acknowledging that there are no case management issues in this case for the purpose of ss.56-58 Civil Procedure Act 2005, Mr Hirsch submitted that the "just" component of the overriding purpose in s.56 pointed to the importance of legal principle, and that it would not be just to require the Plaintiff to submit to exomic genetic testing simply because it is cheap and quick and there is a genetic issue in the case.
20. In summary, Mr Hirsch submitted that: 1. the relief sought in the application is too wide - the purpose of the proposed exomic genetic testing needs to be clarified so that it is limited to the issues in the case - the cause of the Plaintiff's intellectual disability; 2. the Plaintiff's tutor (his mother) cannot be compelled to submit to a medical examination as she is not a party to the action for the purpose of Rule 23.1 UCPR; 3. the Defendant's evidence is insufficient to persuade the Court that exomic genetic testing would illuminate or shed light on the cause of the Plaintiff's intellectual disability because the Bowling and Worthey studies (on which Associate Professor Fahey relies) do not apply to the facts of this case; 4. the potential size of the claim, or its complexity, are not reasons to lower the legal threshold of evidence required to justify medical examination; 5. the Defendant has not demonstrated that the expert evidence in the case is so unequivocally against the possibility of trauma, hypoxia, or a combination of the two being possible causes of the Plaintiff's intellectual disability, so as to enliven the exercise of discretion to order genetic testing; 6. it would be contrary to the overriding purpose in s.56 Civil Procedure Act 2005 to order the Plaintiff to submit to the proposed further genetic testing where the Defendant's evidence does not meet the legal threshold of sufficiency - to make such an order, despite the suggested evidentiary shortcomings, would not be just.
21. Counsel submitted that the Defendant has not established a proper basis for the order for medical examination in this case.

Decision

1. In determining this application, I have kept in mind the provisions and principles set out at [33]-[48] above.
2. I have set out in some detail the competing submissions of the parties on this application.
3. The submissions have taken the Court to a number of reports and the detail of opinions expressed by experts, including Dr Freckmann and Associate Professor Fahey.
4. It is important to keep in mind that the Court is not purporting to determine the proceedings at this stage even on a type of preliminary basis. The test to be applied is one of adjectival relevance, namely whether there is a possibility that the medical examination will shed light on an issue in the proceedings, being the important issue of causation of the Plaintiff's disabilities.
5. The submissions advanced for the Plaintiff challenge features of the reports of Associate Professor Fahey. Associate Professor Fahey was not required for cross-examination at the hearing. I keep in mind, of course, that the supplementary report of Associate Professor Fahey dated 18 October 2018 (Exhibit A) was only served on the morning of the first day of the hearing. Although cross-examination on an interlocutory application such as this would be rare, there was no application that Associate Professor Fahey be made available for cross-examination. That said, counsel for the Plaintiff made submissions which were open to him, challenging the opinion of Associate Professor Fahey by reference to the Bowling and Worthey studies.
6. It may be said that there are a number of contestable propositions contained in the reports of Associate Professor Fahey, but that does not mean that the opinions expressed by him have been neutralised. Associate Professor Fahey remains of the opinion that the Plaintiff's disabilities are explicable by reasons other than hypoxia, and that genetic testing will shed light on this issue. His reports provide some explanation as to the foundation for these opinions, albeit in respects which the Plaintiff seeks to challenge.
7. Fairly read, I consider the report of Dr Freckmann leaves open the utility of further genetic testing with respect to the Plaintiff of the type which the Defendant now seeks to undertake. I do not consider that Dr Freckmann's report indicates the testing of that type is pointless. The fact that the Plaintiff has not been able to obtain a further report from Dr Freckmann on this issue does not stand in the way of the Court receiving and acting upon her existing report.
8. In my view, the potential size of the Plaintiff's claim by way of quantum is a relevant factor in the exercise of discretion. If this case involved, at best, a relatively small claim for damages if the Plaintiff succeeds against the Defendant, that may bear upon the question whether the Court should order medical examination involving genetic testing in all the circumstances of the case. It seems clear that the quantum of the Plaintiff's claim against the Defendant is a substantial one so that the Defendant ought be entitled to take reasonable steps open to it to prepare to meet the Plaintiff's claim and to seek the just, quick and cheap resolution of the real issues in dispute in the proceedings based upon all relevant evidence.
9. I do not consider that the Defendant's reliance upon the statements of Spigelman CJ in Seltsam Pty Limited v McGuiness involves an invitation to the Court to lower the legal threshold on an application such as this. Rather, the point of the argument is that in an area of new and developing scientific and medical testing, there is a reasonable expectation that available science and medical steps will be utilised to permit courts to deal with claims, including contested issues of causation and contribution, upon all relevant evidence, including inferences which ought be drawn from the medical evidence.
10. I am satisfied that the Defendant has adduced sufficient evidence to satisfy the requirement that the proposed testing of the Plaintiff has the capacity to throw light on the issue of causation, a critical issue in the proceedings. There is a sufficiently solid foundation for the making of the order sought. The reports of Associate Professor Fahey and Dr Freckmann indicated the basis for that testing, even allowing for areas of challenge which may arise by reference to the Bowling and Worthey studies. I do not accept the Plaintiff's submission that the application involves nothing more than a fishing expedition.
11. It is pertinent that the Plaintiff proposes to rely on evidence of genetic testing by Dr Freckmann. In these circumstances, given the evidence before the Court on this application, the Defendant should have a fair and reasonable opportunity to have further genetic testing of the Plaintiff undertaken to allow the parties and the Court to have as complete an evidentiary picture as is possible concerning genetic testing.
12. The Plaintiff has had a range of tests undertaken in the past and there is no evidence to indicate a particular difficulty with the blood test in this case being undertaken. There is no feature of the type under consideration in Plowman in this case (see [47] above).
13. The matter has not been listed for hearing and there is some distance for the proceedings to travel procedurally before a hearing date is secured. Having regard to the provisions in ss.56-58 Civil Procedure Act 2005, if a proper basis is demonstrated for the making of the order, there is no case management feature which should operate against the making of the order in this case.
14. Having considered all matters bearing upon the exercise of discretion under Rule 23.4 UCPR, I am satisfied that an order should be made for medical examination of the Plaintiff involving genetic testing. That said, there is a need for greater particularity to be built into the order as to the purpose of the testing. A more precise identification of the purpose should be built into the order as occurred in KF. Accordingly, I will not make an order at this time, but will permit the parties to consider the appropriate formulation of an order for consideration by the Court.
15. I am not persuaded that a proper legal basis exists for the Court to make an order for the Plaintiff's tutor (his mother) to undertake medical examination. I do not consider that Rule 23.1 UCPR extends to permit such an order. For this purpose, I am not persuaded that a tutor is a party to proceedings for the purpose of Rule 23.1 UCPR: Kurnell at 355 [79]-[80].
16. It is understandable that a tutor may be a party for the purpose of a costs ordering power under Rule 43.1 UCPR for reasons explained in Yakmor v Hamdoush (No. 2). However, that same case (at 155 [38]) provides strong support for a contrary view being taken with respect to an order of the present type being available to be made against a person, merely because the person is the tutor for a person under legal disability.
17. Of course, a range of persons may act as a tutor. Being a blood relative of the Plaintiff is not a prerequisite for a person acting as tutor. The fact that the tutor for a plaintiff may happen to be a blood relative should not operate to render that person liable to an order for medical examination under Rule 23.4 UCPR merely because the person occupies the position of tutor.
18. I decline to make the orders sought with respect to the Plaintiff's tutor.

Conclusion

1. I am satisfied that an order for medical examination by way of genetic testing ought be made in the case of the Plaintiff. A form of the order sought in paragraph 1 of the Amended Notice of Motion will be made after greater particularity is provided as proposed at [110] above.
2. I decline to make such an order with respect to the Plaintiff's tutor, so that orders in accordance with paragraphs 2 and 4 of the Amended Notice of Motion will be refused.
3. I will permit the parties an opportunity to make submissions with respect to the precise form of the order to be made under Rule 23.4 UCPR for medical examination of the Plaintiff, and any remaining order sought on the application, including as to costs.

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: 07 December 2018