Prudence McDonald v Dr Ng;; Matthew McDonald by his tutor Prudence McDonald v Dr Ng

Factual matters

1. The plaintiffs allege that as a result of hypoxia (deficiency in oxygen), Matthew suffered hypoxic damage to his brain. While sometimes generically described as a type of cerebral palsy in its "damage to the brain" sense, the plaintiffs say that Matthew's evolving or acquired microcephaly, developmental delay, intellectual disability and cortical blindness are due to the birth-related asphyxia.
2. The plaintiffs allege that the hypoxia which caused damage to the brain was the result of a breach of duty of care by the Dr Ng and the hospital. The plaintiffs say the hypoxia-caused brain damage is from the mismanagement in the period leading to the final stage of birth, the mismanagement in the final stage of birth, or a combination of these.
3. Dr Ng and the hospital deny any breach of their duty of care, and say that even if there was a breach of duty of care and it resulted in hypoxia, the hypoxia did not cause damage to the brain. Rather, Matthew's injuries and disabilities are congenital in origin and due to a genetic abnormality.
4. It is fair to say that at trial the central issue in dispute will be causation. Without a doubt, it will be very complex. Matthew's claim for damages is substantial, being in excess of $13 million. In addition, an actuarial report of Cumpston Sarjeant dated 9 April 2018, calculates the significant prospective management fees of Matthew's funds based upon an initial fund of $10 to $20 million.
5. Numerous medico-legal reports have been served by both sides. There are many differing views on what caused Matthew's injuries. In particular, the plaintiffs have served two reports of Stephen Withers, a consultant paediatric/clinical geneticist, dated 20 March 2018 and 9 May 2018. The defendant has served four reports of Associate Professor Michael Fahey, paediatric neurologist and clinical geneticist, dated 29 May 2017, 21 December 2017, 3 April 2018 and 17 April 2018.
6. Matthew has already undergone three bouts of genetic testing, involving multiple specific genetic inquires, all of which have been directed to the question of whether there is a genetic origin of his injuries and disabilities. All of the three bouts of testing have affirmed that there is no genetic basis to those injuries and disabilities.

Prior testing

1. In regards to the three bouts of prior testing, two were requested by the plaintiffs and one was requested by the defendants. They are as follows.
2. On 10 March 2003 (around 15 years ago), the first testing took place. It was for "karyotype [genetic chromosome] testing and for Rett and Angelman Syndrome gene tests [two different syndromes associated with autism, genetic testing], as well as for microdeletion syndrome [genetic testing]": see Associate Professor Fahey's report 29 May 2017 at 18. This testing took place around 15 years ago.
3. On 7 December 2005 (around 12 years ago), the second bout occurred. This was testing for Smith-Lemi-Opitz (SLO) syndrome; Bratton-Marshall testing; microdeletion (22q13.3) in respect of chromosome 22; subtelomeric testing (23:413-419(2004)); fragile X(Xq27-28); MECP2 gene testing.
4. Finally, on 17 February 2017, the third bout of testing occurred. It was for microarray testing (hg19(GRCh37)). The microarray testing took place fairly recently and did not reveal any genetic abnormality.

The current proposed testing

1. The defendants' proposed fourth bout of genetic testing is described by Associate Professor Fahey, as 'whole genome testing', but described in Ms Watson-Kyme's affidavit at [9] as 'whole exome sequencing'. I will refer to it as the "whole genome testing".
2. The defendants are seeking genetic testing based on the opinion of Associate Professor Fahey. In his report dated 3 April 2018, he explains at 2-6: "I am a paediatric neurologist and clinical geneticist having graduated MMBS with Honours in 1993 from Monash University. I obtained a PhD In 2007 from the University of Melbourne and received my Fellowship from the Royal Australian College of Physicians in paediatrics, neurology and clinical genetics in 2004. I am currently the Head of Paediatric Neurology, Director of Neurogenetics and the Neurologist to the Victorian Paediatric Rehabilitation Service at Monash Children's Hospital. I work at the Alfred and Royal Melbourne Hospitals as a Neurologist and Geneticist. I have a Doctor of Philosophy examining accurate outcome measures in Neurological disease, which I obtained in 2007. I have been a Consultant Paediatric Neurologist and Clinical Geneticist for 12 years at the time of preparation of this report having spent an aggregate of 8 years undertaking specialist training in paediatrics, neurology and genetics in Melbourne and Sydney. I am Associate Professor at Monash University in the Department of Paediatrics and a Clinical Associate Professor in the Department of Medicine at the University of Melbourne. The implication of Genomics in Cerebral Palsy As many as one-third of children with cerebral palsy lack traditional risk factors. In many of 5 these are genetic basis is suspected. Clues to a genetic contribution to the clinical syndrome of cerebral palsy include dysmorphic features and a phenotype that does not fit the history. A progressive condition would not be consistent with cerebral palsy, although this may be difficult to identify. Population studies 25 years ago demonstrated that 1/3 of CP identified at following term delivery were thought to be dysmorphic but did not have an immediately recognisable syndrome. The authors postulated that these children might be more vulnerable to damage by comparatively minor hypoxic-ischaemic insult. These studies have been corroborated recently by CP registry data where congenital abnormalities or IUGR were identified in 48.6% of term or near-term singleton deliveries where CP ensued. 15 to 40% of children with cerebral palsy in this study were reported to have a major congenital abnormality compared to a national figure of 3.6%. To regard the CP and syndromic groups as mutually exclusive, rather than at the very worst on a continuum, is wrong. This concept is supported in Dr Withers report when he says: 'whether these (genetic) factors may be combined with other environmental factors which might include pre-conceptual factors, in-utero factors, factors as a part of the delivery and factors in the post-delivery, all of which may have made some special contribution to the outcome.' I have mentioned in my previous report the work of many contemporary geneticists who identify the Novo copy number variation rates in cerebral palsy, as well as the recent work of McMichael and MacLennan that have identified possible CNV variants 20%. Exome or 25 sequencing may lead to a diagnosis, but may also produce variants of uncertain significance. In the context of seeking truth and diagnosis, my view is that this is a possibility that we should have to bear. McLennan suggests that a potential genetic contribution to causation is present in up to 34 to 45% of cases of cerebral palsy. These emerging but irrefutable scientific studies make the occurrence of genetic changes in cerebral palsy more than just 'serendipity'. The opinion of the managing clinicians To reiterate some of the discussion points that are pertinent to Matthews case. Matthew has visual and hearing impairment which are unexplained by term hypoxia/ischaemia. Prof Ouvrier (13 May 1999) describes developmental regression "stopped lifting his head properly and cannot sit anymore. He has lost a few words that he has had. He cannot call, which he once could do, and he rolls less than before". In 2003 Prof Ouvrier undertook further testing for the genetic syndromes Rett and Angelman. When Matthew was reviewed more recently by Dr Simon, the term 'hypotonic cerebral palsy' was used. Imaging evidence The MRI brain report (James Christie 25 June 1996) describes "changes consistent with PVL (periventricular leukomalacia)", that is, a pattern more seen with damage before 34 weeks gestation. The pattern of injury is further commented on by Prof Ditchfield who feels that there has been a progressive loss of white matter volume between eight months and 15 months. He states that this is not the pattern following 'ischaemia or hypoxia at the time of birth in a term neonate. There is no explanation for the progress. On review, Dr Christie states that the 'neurological deterioration is not consistent with PVL'. Evidence of hypoxia-ischaemia As discussed in my original report and argued by various opinions it is arguable whether Matthew fulfils the criteria required to implicate hypoxia and ischaemia as sole causes of his condition. To make this assumption on scant evidence is disrespectful to the progress in the medicolegal recognition of causes of cerebral palsy as well as to the progress that neurogenetics has made. To summarise this as a 'problem with the birthing process' is an oversimplification. To consider some of the questions asked of Dr Withers: Is there a current peer-accepted understanding of the results of the data produced by the proposed testing which can definitively answer that causal pathway question from a medical and scientific viewpoint? The answer to this is possibly. Many genetic changes may result in a syndrome that includes altered motor development and seizures. I agree with Dr Withers that this technology will be increasingly used 'to make a diagnosis of children who present with atypical findings which are not consistent with what would be considered a typical diagnosis of cerebral palsy'. Matthew presents with atypical findings. Is that interpretation a causative pathway or a data set association? That is, do the results when interpreted show a true causal pathway? Conditions with definitive genetic causes of cerebral palsy are reported on OMIM, i.e. 612900, 612936. Testing can help with the diagnosis, and a defined result would be peer accepted. How, in your opinion, if at all, can the results of the data produced by the testing be appropriately, and reasonably, used by the tribunal of fact to answer a causal enquiry about whether the post-birth injuries and disabilities are not caused by the birthing process and are constitutional or genetic in origin ? Again, this depends on what the results show. What we have, is a boy with an apparently progressive MRI abnormality who presents with additional clinical features including, at the very least, hearing and visual impairment which are unexplained." (Italics in original) (Bibliography omitted).
3. The whole genome testing involves each of the plaintiffs undergoing a blood test. The defendants undertake to pay for the testing and the genetic counselling. Associate Professor Fahey agrees that it is necessary and appropriate that both plaintiffs receive a consultation to discuss the issues of genetic counselling prior to a genomic test. Genome.One can provide consultation for consent and whole genome analysis for the plaintiffs. This should be done prior to undertaking any genetic test and again before the test result is provided to the plaintiffs.
4. In his earlier report dated 21 December 2017, Associate Professor Fahey stated at 4 that 'ideally, when the phenotype or appearance of an individual is unique, testing involves the individual (the proban) and both parent (this is called trio testing)'. He also stated that 'I would recommend trio testing to increase yield'. That trio testing (the plaintiff and his mother and father) is directed to the difficulty of 'ascribing a genetic change as a cause of presentation'. It would have been more advantageous that aside from the plaintiff and his mother, his father also be tested. However, there is no possibility of Matthew's father being tested in present circumstances. Therefore, testing the proban (Matthew) and his mother may provide a result but it would be at a lower yield.

The relevant law

1. The UCPR and the case law is not in doubt.
2. UCPR 23.4 reads: "Division 1 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."
3. UCPR 23.4 is found within Division 1 of Part 23. UCPR 23.1(1) states that the division applies to proceedings in which "a person's physical or mental condition is relevant to a matter in question" where that person is a party. The term "medical examination" is defined in UCPR 23.1(2) as including "any examination by a medical expert but does not include tests referred to in Division 2".
4. The parties referred to Rowlands v State of New South Wales (2009) 74 NSWLR 715; [2009] NSWCA 136 ("Rowlands"); KF By Her Tutor RF v Royal Alexandra Hospital for Children known as the Children's Hospital Westmead and Anor [2010] NSWSC 891 ("KF"); Boral Transport Pty Ltd v Gulic [2013] NSWCA 150 ("Gulic"); Hamilton v State of New South Wales [2013] NSWSC 1437 ("Hamilton"); and Plowman v Sisters of St John of God Inc [2014] NSWSC 333 ("Plowman").

Rowlands

1. In Rowlands, the issue before the Court was the extent to which the plaintiff's cognitive abilities were affected by the relevant accident. The defendant claimed that an assessment of the plaintiff's cognitive abilities would be affected by his drug taking in the days preceding that assessment. Accordingly, the defendant sought orders for the plaintiff to submit to collection of urine, blood and hair samples by a medical practitioner for the purposes of drug screening prior to the examination with the consultant clinical neuropsychologist, Dr Pauline Langeluddecke. The plaintiff had previously undergone a urine drug screen at the request of his treating psychiatrist. Tobias AJA (agreeing with Hodgson JA) confirmed at [61] that the scope of the rules would extend to: "routine tests or procedures (such as the taking of blood samples from a party) to be examined by a medical pathologist. The taking of x-rays, CA T scans and MRIs for examination by the appropriate medical expert would also be covered by the rule."
2. Tobias AJA (agreeing with Hodgson JA) also stated at [61] that the test must be relevant to the party's physical or mental condition where that is in issue in the proceedings and could not be used for a collateral purpose such as testing a party's credibility. In the current proceedings, the proposed genetic testing is not being used for a collateral purpose.

KF

1. In KF, Johnson J noted at [19] that a particular issue arose in Rowlands concerning the privilege against self-incrimination that did not arise in the circumstances before his Honour. This was because Rowlands concerned drug screening tests being ordered which involved the collection of urine, blood and hair samples. As was highlighted by Johnson J in KF at [46]: "A party who is sued with these possible consequences is entitled to take reasonable steps in a proper case, 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." There are no concerns of that nature in the present case.

Gulic

1. In Gulic, the Court of Appeal was concerned with concerned with District Court proceedings for damages following an injury suffered while lifting a gate onto a truck. The plaintiff alleged that the injuries affected his shoulders, head, cervical spine and thoracic spine, but not his lumbar spine. The defendant, Boral, sought under UCPR 23.5 to assess the current condition of the plaintiff's lumbar spine to determine the extent to which that earlier injury went to his disability, diminished earning capacity and capacity to look after himself.
2. The primary judge, Sorby DCJ, accepted that the rule extended to MRI procedures per Rowlands, but rejected Boral's application for two reasons. The first was that the plaintiff bore the overall burden of establishing his case and, in the absence of evidence as to the effect of the 1997 injury as at the time of trial; there would be "a significant gap" in the plaintiff's medical case for ongoing economic loss and domestic care. The second was that while Boral bore an evidentiary burden to demonstrate that the plaintiff's disabilities were partly due to a pre-existing condition, as explained in Watts v Rake (1960) 108 CLR 150; [1960] HCA 58 and Purkess v Crittenden (1965) 114 CLR 164; [1965] HCA 34, there was already ample material to demonstrate such a pre-existing condition and the onus therefore shifted to the plaintiff to establish the degree of disability caused by the 2010 injury.
3. Basten JA (with Meagher JA agreeing) at [25] allowed the appeal and ordered the plaintiff to submit to an MRI examination under UCPR 23.4. In rejecting the first of the primary judge's reasons, Basten JA stated at [7]: "… the fact that a plaintiff may fail on a particular point in the absence of sufficient supporting evidence, does not mean that a defendant cannot obtain an order for a medical examination to uncover the truth of the plaintiffs medical condition. To the contrary, the reasoning demonstrates both that the issue is material and in dispute and that such an examination is relevant to resolving the dispute."
4. In regards to the second of the primary judge's reasons, Basten JA stated at [9]: "This reasoning is also misconceived: the fact that a defendant has material available to it to support its case does not, in the absence of a concession or capitulation, demonstrate that there is not still a live issue. If there is a live issue as to the physical or mental condition of the plaintiff, to which a medical examination will be relevant, the rule is engaged."
5. Basten JA noted at [13] the nature and the intrusiveness of the MRI examination. His Honour stated at [15]: "…it may be accepted that an MRI scan involves a degree of inconvenience and perhaps discomfort. However, the plaintiff had voluntarily undergone scans of his left shoulder, his right shoulder and his thoracic spine for the purposes of the claim."
6. Basten JA determined at [21] that the plaintiff should be ordered to undergo the MRI examination of his lumbar spine. While the plaintiff argued that there was absence of a clear indication by the defendant's experts that an MRI scan was required, it was inferred from material before the Court that Dr Machart had said a "lumbar spine MRI may be useful in assessing the current lumbar spine condition." In the absence of medical evidence to the contrary, the Court of Appeal inferred at [22] that the proposed MRI scan was relevant to the assessment of the plaintiff's current and possible future incapacity resulting from the 1997 injury and was therefore "likely to be of material assistance."

Hamilton

1. In Hamilton, the defendant sought an order requiring the plaintiff to undergo an MRI scan of the brain. The plaintiff was involved in an alleged incident where he was forcefully and physically restrained and assaulted by two officers of the NSW Police Force. As a result of the incident, the plaintiff alleged that he had suffered injuries, including a fractured skull, post-traumatic stress disorder and depression. A number of disabilities were recorded in the statement of particulars, including daily headaches, vertigo, dizziness, anxiety attacks, loss of concentration, poor memory, and tearfulness and depression.
2. Bellew J stated at [52] that his Honour was satisfied there was a live issue between the parties as to the cognitive state of the plaintiff. Accordingly, his Honour was of the view that in the circumstances where the plaintiff alleged post-concussion syndrome and cognitive impairment and had been referred by his own treating practitioners for a MRI and CT scan, the application was based on more than a bare allegation. It was also found to be more than speculative in nature. Hence, in the context of the disabilities alleged by the plaintiff, His Honour was of the view that the proposed testing had the capacity to throw light on the issues.
3. Bellew J stated at [51]: "..There must be sufficient evidence that the proposed testing has the capacity to throw light on the issue in the proceedings..."

Plowman

1. Plowman concerned an application for an order under UCPR 23.4 for 15 ml of blood to be drawn for the purpose of an Array Comparative Genomic Hybridisation test. The application was connected to the plaintiff's claim for damages arising from the alleged negligence of the servants and agents of the defendant in respect of care provided to the plaintiff's mother. The plaintiff had suffered three particular injuries from the negligent conduct, being birth asphyxia, brain damage and cerebral palsy. The plaintiff opposed the order being sought.
2. Garling J first noted at [30] that the power of the court under UCPR 23.4 is sufficiently broad to include an order for the taking of a blood sample and the testing of that blood sample. His Honour also acknowledged at [31] that "the power is a discretionary one which must be exercised judicially having regard to factors relevant to the exercise of the discretion in a particular case."
3. The plaintiff suffered from anxieties and phobias directly related to having needles. However, his Honour concluded at [56] that the plaintiff had received a number of previous vaccinations by injection. The phobias and anxieties were therefore an insufficient factor to not make the order. Nor was his Honour persuaded by the concerns that the plaintiff may get anxious and upset at the prospect of visiting a doctor or the administration of a needle as there was no record of such a significant adverse reaction occurring from her past injections. It was therefore insufficient to prevent the order being made.
4. Garling J then dealt with the first issue of whether the testing would assist with the resolution of an issue in proceedings. His Honour stated at [74]: "The first issue which falls for consideration on this Motion is whether there is a live issue as to the cause or causes of the plaintiff's physical incapacity and intellectual disability. In considering this issue, it is sufficient for the Court to be satisfied that there is an issue of substance which will be illuminated by the results of the test which it is proposed to be undertaken. The Court does not have to be satisfied that the issue will ultimately be determined in the defendant's favour."
5. His Honour concluded at [76] that there were a number of factors that were sufficient to satisfy his Honour that the proposed testing may cast light on a live issue, stating: "(a) the opinion of Dr Ouvrier, which I accept, that the proposed testing has the capacity to identify an underlying genetic alteration which has caused or contributed to Ms Plowman's intellectual deficit; (b) if such alteration is identified, it has the capacity to affect a valuable element of the plaintiff's claim for damages, namely, the extent to which she would have required attendant care and support services regardless of the events upon which she has sued; (c) there it is reasonable basis to investigate whether the conduct of the defendant, which is relied upon, is a necessary condition for the occurrence of the plaintiff's intellectual disability. I accept, as do the experts, that the episode of perinatal hypoxia is one explanation for all that has occurred, however that does not mean that, as the plaintiffs submissions seem to suggest, that it is the only explanation."
6. Garling J then addressed at [79] the second issue, being whether there was any particular factor relevant to the plaintiff which would tell against ordering the testing proposed. His Honour stated at [80] that there were three principal matters to be considered in resolving this issue. The first concerned the plaintiff's phobias and anxieties in regards to needles, which he rejected at [80] on the basis of his earlier findings. The second concerned the plaintiff becoming anxious and upset at the prospect of visiting a doctor. His Honour also rejected this consideration at [81] on the basis of both his earlier findings and because he held a view that identified strategies could be implemented to deal with the plaintiff's fears. The final matter concerned that the information obtained, being information about the plaintiff's genetic structure, may give rise to difficult and complex decisions about to whom the information ought to be provided. Garling J was of the view that this would depend upon what the results show. In finding that it was not a reason to refuse the order, his Honour stated at [82]: "… That may be so, but whether it does or not, will depend on what the test results show. As well, if the plaintiffs tutor forms the opinion that the results actually throw up a difficult question, then the tutor is able to make application to the Court for orders restricting the publication of the information or, alternatively, should that be appropriate, permitting the publication of the material. This is not a reason to refuse the order, but may be a reason to reserve liberty to the plaintiffs tutor to apply for an appropriate order if so advised."
7. His Honour concluded at [83]-[84]: "Having been satisfied that the proposed testing can cast light on a matter of substance which is a live issue and that there is no particular reason which tells against the test, the question then is whether the court should exercise its discretion to order the testing. I am satisfied that it should. The potential benefit to the defendant is significant. The detriment to the plaintiff is not sufficient to tip the balance against ordering the test. In fact, I am satisfied that, when all of the factors are considered, they point firmly in favour of the court making the order sought."
8. I will proceed on the basis that there must be sufficient evidence that the proposed testing has the capacity to throw light on the issue in the proceedings (Hamilton, [51]), or alternatively, whether I am satisfied that there is an issue of substance which will be illuminated by the results of the test which it is proposed to be undertaken (Plowman, [74]). The court does not have to be satisfied that the issue will ultimately be determined in the defendants' favour.

The plaintiffs' submissions

1. The plaintiffs submitted that it is important to recognise the proposed fourth bout of genetic testing 'is very much still at the research stage'. Associate Professor Fahey identifies in his report dated 21 December 2017 at 4 that because this is an emerging field, an analysis at the Australian Garvin Institute may not be sufficient. He says: "Testing through the consortium is undertaken on a clinical and research basis… In the clinical or research situation, such findings might be interpreted in good faith. I suspect that where causation is being debated legally, the acceptance of changes as pathological may be more problematic.'
2. However, he also states at 5 that further analysis could be undertaken by the International CP Genomics Consortium and at the Kruer Lab in Arizona, USA.
3. In their written submissions, the plaintiffs drew up a chart summarising and emphasising Dr Withers and Associate Professor Fahey's opinions on their answers to various questions. The chart also emphasised the statements regarding the test being in an emerging field and research stage. The plaintiffs also submitted in relation to the cases about the court's power to order a party to undergo an investigation, none of the cases have dealt with an investigation 'very much still at the research stage'; all have dealt with investigations where there is an accepted medical and scientific understanding of the product of the investigation. In this case, the proposed investigation with its emergent and research character serves no useful purpose in assisting the court on the causation question in relation to the real issues in dispute as required under s 56 of the Civil Procedure Act 2002 (NSW). It is, in blunt terms, too early in the development of this knowledge.
4. It was also submitted that without the father being tested, the result will be of a lower yield.
5. As the genetic testing is directed in this case to the question of causation, it is necessary to recall the purpose of causation in civil litigation. It has long been recognised that one of the substantial limitations of causation in civil proceedings is that causation is not, in the end, concerned with scientific or medical notions of causation, or even philosophical notions of causation. Nor is it concerned with ultimate explanations. Rather, it is concerned with attributing allocation of loss. This is done within the limitations of an adversarial dispute between imperfectly funded and represented litigants.
6. In summary, the plaintiffs' arguments are that such an order should not be made because it is too early in the development of the specific knowledge base, the results would be too uncertain in meaning and too speculative as to what is causally shown, and such testing would inevitably add great expense to the case when the parties would nonetheless need to rely upon competing PhD research papers (or something equivalent). Nor would it throw much light on the issues in the proceedings. As a result, the proposed fourth bout of genetic testing is far removed from just, cheap and quick under s 56 of the Civil Procedure Act.

The defendants' submissions

1. The defendants' submissions relied upon the reports of Associate Professor Fahey.
2. In his report dated 29 May 2017, Associate Professor Fahey analysed the other expert opinions and made the following observation at 20 in regards to the expert evidence relied upon by the plaintiffs: "On reflection, I think that the following opinions should be reviewed with the following idea in mind: if Matthew does not have cerebral palsy, and in my opinion he does not, then discussions about associations with birth asphyxia and his condition are far less relevant. I struggle with reports that speculate over levels of pH when they were not taken."
3. Associate Professor Fahey 24 states that "intrapartum global ischaemia is not supported by either the MRI data available nor the clinical finding."
4. In relation to the most likely diagnosis for Matthew's condition, Associate Professor Fahey states at 35: "On consideration of the historical, clinical and radiological features of Matthews [sic] case, I agree that he falls into a complicated group where there is a likely cryptogenic cause for his early onset brain syndrome. Current thinking is that less than 10% of cerebral palsy is considered related to an intrapartum event. An increasing number of genetic causes are now being identified. However, this sort of investigation is still very much at the research stage. Because this is a rapidly progressing area, an absence of an identified genetic change does not exclude a genetic cause."
5. He then sets out at 29 what he would do if Matthew were his patient: "Ideally, I would explore causes of hypotonia (low tone) as this appears a consistent clinical concern and include repeat testing of CK and myotonic dystrophy genetic tests. I would undertake an exome triad (detailed analysis of the DNA) of Matthew and his parents if Matthew were my patient."
6. Associate Professor Fahey discusses the difference between the genetic testing performed to date and that proposed. He says at 30: "A microarray is genetic test that looks for large deletions or duplications in the genoms. Although it has a recognised clinical use, it can only detect large changes - usually around 250,000 base pairs in size…This testing is normal in Matthew. The 'next generation' of genetic testing involves 'spelling out' the whole exome (the coding regions of DNA) or genome (all the DNA) using massive parallel sequencing. This type of testing has a resolution that can define changes of a single base pair. It has the advantage that multiple (hundreds) of genes can be analysed synchronously. There is increasing use of this technology as a cost effective and efficient to diagnose conditions with a wide phenotype or where multiple genes are implicated…In Matthew's case, the phenotype of progressive white matter change and seizures would make me consider a genetic condition for which further investigation is warranted from a diagnostic, prognostic and familial viewpoint."
7. In his later report dated 21 December 2017, Associate Professor Fahey states at 3-4: "The recent advances in genomic medicine, permit the analysis of large amounts of genetic information. Using the genomic techniques of exome sequencing (an exome is the coding region of the DNA), recent Australian studies reveal pathogenic changes in 14% of individuals with Cerebral Palsy and identify a sequence variation of uncertain significance in a further 40%. Subsequent research from Australia and overseas identified putative genetic changes in a substantial proportion of individuals with cerebral palsy. More detailed studies are now examining the complete genetic code in individuals with CP. Sequencing the entire genetic code is called whole genome testing. Whole genome testing is expected to be more sensitive in detecting more disease causing changes."
8. Associate Professor Fahey then sets out at 4-5 the mechanism for the taking and testing of the blood sample. He deals with issues such as informed consent.
9. The defendants submitted that the plaintiffs rely upon the opinion of Dr Withers, paediatrician and clinical geneticist. Dr Withers accepts in his report dated 20 March 2018 at 2 that the result of whole genome testing will produce a "large number of results which may or may not be of clinical significance". He states that the interpretation of the data that would be produced by testing "may be difficult".
10. Although critical of the prospect for testing to unequivocally produce a definitive result, Dr Withers couches his opinion with the following proviso at 3: "Unless the test result indicated a well-defined and well-recognised syndrome, then this would leave the assessment team in a difficult position."
11. While Dr Withers accepts that the testing could produce a test result which indicates a well defined and well recognised syndrome, none of Dr Withers' qualifications apply if this situation arises.
12. According to counsel for the defendants, Dr Withers also reaches a surprising conclusion at 7 without any justification: "Given the birth history has features consistent with birth asphyxia at a minimum it would need to be considered a major co-morbidity as a part of the presentation."
13. The defendants submitted that Dr Wither's conclusion is questionable as the defendants contest the existence of birth asphyxia. Any reliance on the ability of Dr Withers to reach such a conclusion is therefore misguided as it is based upon an uncritical acceptance of the existence of "features consistent with birth asphyxia".
14. Further, the defendants say that if the result of the testing identifies a rare variant, the interpretation of that data may be difficult. However, the fact that an assessment of results may be difficult does not prevent a court from considering it and applying the court's usual process in considering medical data. It is not a matter for Dr Withers to opine whether a court can or will reach a determination on the balance of probabilities. A court, approaching this question, will have regard to the principles articulated by Spigelman CJ in Seltsam Pty Ltd v McGuiness [2000] NSWSC 29 at [93]. The process the court will adopt in this case would therefore involve a complex analysis of the entirety of the evidence, including medical, lay, expert and non expert.
15. The subsequent reports of Associate Professor Fahey (3 April 2018 and 17 April 2018) and Dr Withers (9 May 2018) also demonstrate a difference of opinion between those two experts. The mere existence of a difference in opinion is not sufficient to prevent the defendants from conducting an appropriate investigation.
16. In regards to s 56 of the Civil Procedure Act, the defendants submit that the application is a analogous to the situation in KF. The making of an order that the plaintiffs submit to genetic testing will facilitate the just, quick and cheap resolution of the real issues in dispute in the proceedings.
17. Finally, as was highlighted by Johnson J in KF, "a party who is sued with these possible consequences is entitled to take reasonable steps in a proper case, 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."

Conclusion

1. Causation is the central issue in these proceedings. If the plaintiffs are successful on this issue, Matthew's damages will be substantial.
2. Associate Professor Fahey in his report dated 3 April 2018 observed at 3-4 how far the research over the genetic contribution to the clinical syndrome of cerebral palsy had advanced over the past few decades. The whole genome testing involves the plaintiff and his mother (his tutor) to each provide a blood sample. (Associate Professor Fahey, Report 21 December 2017, 4). They have done so in the past. I accept that they have previously undergone genetic tests, two at the request of the plaintiffs and one at the request of the defendants.
3. The defendants will pay tor genetic counselling for the plaintiffs as set out earlier in this judgment.
4. The defendants say that they will serve the report regardless of what it says. This report will be served between six to eight weeks from the time the blood is given. The service of this report will not delay the allocation of a hearing date.
5. Once the whole genome testing has taken place, the result will fall into one of three categories. The first is where it discloses no genetic abnormality or explanation for Matthew's condition and therefore does not assist the defendants' case. The second arises if it gives ambivalent results or it does not proffer an opinion that supports a genetic abnormality, resulting in the report being neutral and perhaps unhelpful. The third would occur where it supports the defendants' case that Matthew has a genetic abnormality.
6. Associate Professor Fahey opined in his report dated 3 April 2018 at 6 that Matthew has an apparently progressive MRI abnormality and presents with additional clinical features, including, at the very least, unexplained hearing and visual impairment. Testing can help with the diagnosis and a defined result would be peer accepted. Dr Withers, the plaintiffs' consultant paediatric/clinical geneticist, says in his report dated 20 March 2018 at 2 that the gene sequencing testing would produce "a large number of results which may or may not be clinical significance." In other words, it is possible that the results may be clinically significant.
7. Overall, I am satisfied that there is sufficient evidence that the proposed whole genome testing has the capacity to throw light on causation. I am also satisfied whether the plaintiff's injuries and disabilities are as a result of a genetic abnormality is an issue of substance which is likely to be illuminated by the results of the whole genome testing. I do not have to be, nor am I am satisfied, that the genetic testing will be decided in the defendants' favour.
8. Once the report is served, either party can object to it being tendered in evidence at trial. If this current whole genome testing is not permitted to be undertaken, the defendants will be denied the opportunity to further investigate a real central issue in dispute, namely causation. I might add that the defendants agree that the report is not to be used for scientific research unless the plaintiffs give their consent.
9. The parties are in a position to seek medical expert opinion as to the reliability of the test. In the event the whole genome testing sheds no light on the Matthew's condition, both parties may choose not to rely upon it.
10. The plaintiffs (or defendants) can object to the tender of the report based on their experts' opinion in accordance with Makita v Sprowles [2001] NSWCA 305.
11. Therefore, in these circumstances and in the exercise of my discretion, I make an order pursuant to UCPR 23.4 that the plaintiff and the plaintiff's tutor, being the plaintiff's mother, each provide a blood sample for the purposes of whole genome testing. It is now unnecessary for me to determine an application for a stay of proceedings.
12. Costs are reserved.

The Court orders that: (1) Pursuant to UCPR 23.4 that the plaintiff and the plaintiff's tutor, being the plaintiff's mother, each provide a blood sample for the purposes of whole genome testing. (2) Costs are reserved.

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