PL by her tutor TL v Dunstan

Background

1. On 22 April 2016, the plaintiff commenced proceedings by way of statement of claim in this Court. The plaintiff by her tutor alleges that she suffered injuries as a result of the defendant's negligence. The injuries include, but are not limited to, autism spectrum disorder, epilepsy, incontinence, difficulties with coordination and impaired executive function.
2. In March 2008, the plaintiff was born at Liverpool Hospital following a successful IVF-induced pregnancy using a donor egg. At birth, her weight was 3410 gm, length was 53 cm and head circumference was 35 cm, which was plotted to be in the 50th percentile for her age.
3. On 3 April 2008, the plaintiff was transferred to the Westmead Children's Hospital for a surgical opinion from the defendant, who was her treating paediatrician.
4. On 11 April 2008, the plaintiff attended Westmead Children's Hospital, where she underwent an anal dilatation and nerve stimulation of her ectopic anus under general anesthetic. The plaintiff continued under the defendant's care.
5. On 13 September 2012, the defendant reviewed the plaintiff, who was then aged 4 years and 6 months.
6. Between 16 and 19 September 2012, the plaintiff was admitted to Campbelltown Hospital after suffering seizures.
7. In October 2012, the plaintiff saw Dr Chaseling, a neurosurgeon, regarding concerns over her co-ordination and joint pain. He felt it unlikely that the plaintiff's problems related to cord tethering. His major concern was her macrocephaly and history of poor coordination. He measured the plaintiff's head circumference at 54 cm and requested an MRl of her brain to ensure that she had no intracranial problems, particularly in view of her macrocephaly.
8. Between 15 and 18 October 2012, and again between 30 March 2013 and 3 April 2013, the plaintiff was admitted to Campbelltown Hospital with seizures.
9. Between 3 April 2008 and 20 November 2012, the plaintiff attended on the defendant on 31 occasions. On 13 of them, the defendant measured and recorded the plaintiff's head circumference. These details are fully set out in [5] of the amended statement of claim ("ASC").
10. The plaintiff's case is that by 12 January 2009, when she was 10 months of age, she had become macrocephalic due to her undiagnosed hydrocephalus. She alleges that on every occasion upon which she attended on the defendant from 12 January 2009 through 20 November 2012, the defendant failed to identify the macrocephaly and appropriately refer her for further investigation and specialist review.
11. On 2 April 2013, the plaintiff underwent an MRI of the brain, which showed hydrocephalus with generalised ventricular dilatation and a posterior fossa cyst consistent with a Blake Pouch cyst. There was brisk CSF flow across the cerebral aqueduct at the lateral and midline foramina of the cerebellum and surrounding the spinal cord.
12. The plaintiff's mother lives with her husband and two children, the eldest being the plaintiff, now aged 11, followed by the plaintiff's sibling, aged eight. Both children are said to have special needs.
13. As previously stated, the plaintiff was conceived via IVF with a donor egg. The plaintiff's younger brother was also conceived via IVF with a donor egg. He is said to have attention deficit hyperactivity disorder.

The pleadings

1. At [13] of the ASC, the plaintiff pleads seven particulars of negligence that broadly relate to the delay in diagnosis.
2. In his defence, the defendant admitted that: 1. he failed to refer the plaintiff for brain imaging at 10 months of age on 12 January 2009 and at each subsequent consultation through to 20 November 2012 as particularised in 13; 2. he failed to refer the plaintiff for investigations of her abnormal head circumference at 10 months of age on 12 January 2009 and at each subsequent consultation through to 20 November 2012 as particularised in 13; and 3. he failed to appropriately interpret changes in the plaintiff's head circumference at 10 months of age on 12 January 2009 and at each subsequent consultation through to 20 November 2012 as particularised in 13.
3. While the defendant admitted those failures in the defence, he did not concede that they amounted to breaches of duty of care. He made that admission later, in a letter dated 23 August 2018.
4. While admitting breach of duty in the above three respects, the defendant has made no admission as to causation. Causation appears to be the main issue in dispute. In summary, the plaintiff's case is that the delay in proper diagnosis caused her current condition. The defendant's case is that the plaintiff's condition is caused by genetic factors. However, it may turn out at trial that the plaintiff's condition is found to have been partly caused by the delay in diagnosis, and partly caused by genetic factors.

The relevant law

1. Rule 23.4 of the UCPR 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."
2. Rule 23.4 of the UCPR falls within Division 1 of Part 23. Rule 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". It is common ground that this court has the power to order the tests sought by the defendant.
3. The parties referred to Wells by his tutor McGuffog v Hunter New England Local Health Service [2018] NSWSC 1877 ("Wells"); KF By Her Tutor RF v Royal Alexandra Hospital for Children known as the Children's Hospital Westmead [2010] NSWSC 891 ("KF"); Plowman v Sisters of St John of God Inc. [2014] NSWSC 333 ("Plowman"); and Dikschei v Epworth Foundation [2010] VSC 435 ("Dikschei").
4. In KF, Johnson J stated at [46]: "[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."

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 a genomic test. The plaintiff had suffered three injuries from the alleged negligent conduct, being birth asphyxia, brain damage and cerebral palsy. The plaintiff opposed the order sought.
2. In Plowman, 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 its testing. 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 in Plowman suffered from anxieties and phobias associated with needles. However, his Honour concluded at [56] that as the plaintiff had received a number of previous vaccinations by injection, and there was no record of any significant adverse reaction from them, her aversion to needles and potential distress at having to visit the doctor were insufficient reasons not to make the order.
4. Garling J then addressed whether the testing would assist with the resolution of an issue in proceedings, stating at [74]: "[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 him that the proposed testing may cast light on a live issue, stating: "[76]… (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. At [79] in Plowman, Garling J addressed whether there was any particular factor relevant to the plaintiff which would tell against ordering the testing. The two matters his Honour considered which are relevant to this current motion were the plaintiff's phobias and anxieties regarding needles, and her distress at visiting a doctor. Honour rejected both these considerations because he held a view that certain strategies could be implemented to deal with the plaintiff's fears.
7. His Honour concluded at [83]-[84]: "[83] 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. [84] 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 note that it appears that in Plowman, the choice of a saliva swab was not available.
9. Dikschei involved a plaintiff who sustained injuries after a stroke. In considering whether to order a diagnostic test called a "TOE test" in relation to her claim, Mukhtar AsJ stated at [39] and [40]: "[38] It is accepted by all (ie, including Mr Strathmore) that an embolism can cause a stroke. It is accepted that a failure to properly handle the catheter can cause an air bubble. It is the fact that Mrs Dikschei experienced the onset of her loss of strength in her limbs and extreme headache and loss of speech immediately after the handling of the line. The MRI showed infarction consistent with embolic shower. At the time the responsibility was on the hospital to do a proper diagnosis in order to give the proper treatment for Mrs Dikschei, yet the evidence does not show that a TOE was regarded as necessary. The recommended course was hyperbaric treatment. Neither the hospital nor Mr Strathmore have challenged that conclusion or suggest that the practitioners have failed to take into account other factors or point to some other shortcoming. [39] …, it may be appealing at least to a litigator's mentality, to say that it would be in the plaintiff's interests to agree to a TOE because the visualisation of POA or a septal defect would prove her case. The problem is that there is evidence here that a negative TOE test does not disprove the presence of a heart defect. It depends on the size of the shunt. And the failure of showing a shunt does not mean that there was not one present in 2005 when the incident occurred. This all demonstrates, I think, that even with a negative TOE test, for the plaintiff the facts will speak for themselves and she will still contend with the support of medical evidence that the stroke was caused by an embolism from the manipulation of the catheter. The onus of proof will remain on the plaintiff and any question about the utility or definitive value of a TOE can be a factor on which her witnesses may be tested, and for the jury to consider."
10. However, in Dikschei, all of the plaintiff's treating doctors and specialists, in addition to three experts, were in agreement about the most likely cause of her stroke and were able to form an opinion without requiring a TOE test. None of them was unwilling to give an opinion without the test. That is not the situation in these current proceedings.
11. In light of these cases, I will proceed on the basis that there must be sufficient evidence that the proposed testing has the capacity to cast light on a matter of substance which is a live issue in proceedings (see Plowman at [83]), or alternatively, on the basis that there is an issue of substance which will be illuminated by the results of the proposed test (Plowman, [74]). I note that the Court does not have to be satisfied that the issue will ultimately be determined in the defendants' favour.

Medical reports

1. The defendant has served reports from two paediatric neurologists, Dr Ryan and Dr Kornberg. Dr Ryan opines that the plaintiff's course has been consistent with an underlying genetic syndrome with dysmorphic features. It is his opinion that her concomitant neuro-behavioural deficits are more likely related to an underlying syndrome than to chronic ventricular dilatation/hydrocephalus. Dr Kornberg also considers that the plaintiff's deficits are more likely related to an underlying genetic disorder than to consequences of hydrocephalus.
2. Dr Ryan considers it is likely that the mildly elevated intracranial pressure reflective in the plaintiff's neuro-imaging findings is static and has not resulted in any significant functional deficits. It is his view that the neurological and behavioural phenotype that she now exhibits is not caused or exacerbated by her Blake Pouch cyst and concomitant ventricular dilatation. His opinion is that her ventricular dilatation can be regarded as a form of "arrested" hydrocephalus or ex vacuo change in the intracranial pressure ("ICP") that has equalised out, and in which any persisting elevation of the intracranial pressure is insufficient to cause symptoms, such as headaches or signs such as the ophthalmological ICP.
3. The defendant submitted that even the paediatric neurologist qualified by the plaintiff, Dr Harbord, accepted that it is "possible that [the plaintiff[ has an as yet previously unrecognised genetic syndrome". Further, when Dr Harbord was asked, "Based on your understanding of the reports of Dr. Kennedy and Dr Edwards, is it your understanding that most or all of the genetic conditions they are suggesting might be tested for are genetic conditions which may be responsible for [the plaintiff's] hydrocephalus?" Dr Harbord replied, "Yes".

Utility of genetic testing

1. There is a benefit to the plaintiff undertaking genetic testing in this case. Dr Kennedy, clinical geneticist, provided an explanation of the nature of the testing, whether it be chromosomal, microarray testing ("CMA"), fragile X or whole exome sequencing.
2. Dr Kennedy explained that the genetic testing undertaken on the plaintiff to date has not been exhaustive, and further testing could be performed to try and elucidate the cause of her autism spectrum disorder. That further genetic testing would include molecular karyotype (micro chromosomal microarray test-CGH or CMA). This has not been previously performed by Dr Edwards. Dr Kennedy stated that it is also standard to perform a fragile X test to exclude this diagnosis, even though it occurs less frequently in females. Further, genetic testing could include a panel of several genes known to be associated with a particular problem of interest, such as autism or hydrocephalus.
3. Dr Kennedy stated that for the plaintiff, given that she has a diagnosis of autism spectrum disorder as well as hydrocephalus, panels of up to several hundred genes known to be associated with these particular problems could be ordered. In addition, clinical geneticist Dr MacLean can curate the list of genes and any gene of particular interest to be added to the existing panel. Another option would be to perform a clinical exome test or examination of all the coding parts of the human genome in order to try and identify a significant disease-causing variant. In some cases, this is done only on the affected child, or it can be done on the parents and child to see if any variants identified are inherited or de novo.
4. Dr Kennedy indicated that it is possible that the plaintiff has an underlying as yet undiagnosed syndrome, and that current molecular techniques could potentially provide more information about single gene disorders than older tests which have already been performed.
5. Dr MacLean, also a clinical geneticist, noted that the central question to these proceedings is whether there is an identifiable underlying basis for the plaintiff's disorder. He characterised the major features of her disorder as including tetra-ventricular hydrocephalus with Blake's Pouch cyst, anorectal malformation, ataxia/incoordination, seizures, a learning and behavioural disorder and tall stature. Dr MacLean noted that the pattern of findings in this instance do not fulfil diagnostic criteria for VACTERAL Syndrome, which requires three defining features. He stated that the plaintiff's documented neuro-development is not typical of children with VACTERAL association, and that she may have an alternative basis for her condition. The the differences between the plaintiff's presentation and those of children with more typical VACTERAL features is sufficient to warrant extensive molecular investigation using currently available benchmark technologies such as whole genome or whole exome sequences, SNP microarray and fragile X testing. It is his view that it may be possible to do each and all of these tests on a buccal sample. Samples from the plaintiff's parents are likely to be of further value.
6. Dr MacLean pointed out that there have been significant gains in understanding the genetic basis of brain formation, brain malformations, hydrocephalus and hind-brain development, including the role of genes critical for normal embryonic pattern and how they contribute to clinical disorders. In the last decade, specialists have developed new means of making genetic diagnoses by genetic sequencing which do not rely on having a discretely or immediately recognisable brain malformation or clinical signs.
7. Dr MacLean's key recommendation is to use a molecular diagnostic approach using whole exome or whole genome sequencing to determine if there is an identifiable genomic basis for the plaintiff's condition. He stated that this is typically done as a trio sequence, using parental DNA samples to filter variants and to confirm putative findings. The same sample may be used to repeat the chromosome microarray using a SNP array that has a greater diagnostic sensitivity, and fragile X testing, which requires a separate diagnostic test.
8. Dr MacLean stated that the genetic testing performed on the plaintiff so far is not exhaustive, and that the genetic assessments performed in 2013 by Dr Edwards preceded the current era of whole exome or whole genome sequencing.
9. Dr Harbord, a paediatric neurologist qualified by the plaintiff, thought it possible that the proposed further genetic testing would provide a specific genetic diagnosis explaining the plaintiff's combination of neurological and behavioural problems.
10. Dr Amor, a geneticist qualified by the plaintiff, was more circumspect, but did not rule out the utility of testing.
11. Dr Amor noted that the whole exome/genome sequencing can be performed at Victorian Clinical Genetic Services on either a blood sample or a saliva sample. He stated that a blood sample is preferable, as saliva samples need to be collected under the supervision of a health professional and have a small chance of being of sufficient quality for sequencing, necessitating requests for a second sample.
12. Dr Kennedy agreed with Dr Amor that Victorian Clinical Genetic Services is able to carry out all the molecular testing on either a blood or saliva sample. Dr Kennedy noted that if only the plaintiff is tested, only she is required to provide a sample. She noted that the laboratory specifically requests that samples are not self-collected at home, but by a health care professional to ensure quality. If a trio exome is performed, then samples would need to be collected from both the plaintiff and her biological parents.
13. It takes approximately 12-16 weeks to perform the test and analyse the genetic material from a sample. The nature of the plaintiff's conception through IVF using donor egg obviously impacts on the relevance of the parental samples (i.e. the egg donor and the plaintiff's father), where the utility is in refining the analysis and final WES/WGS report.
14. Dr Kennedy stated that the laboratory preference is generally for a blood sample, which requires at least one sample to be drawn. The test requires detailed clinical information to accompany the sample submission to facilitate the bioinformatic analysis.
15. The defendant has indicated for the purposes of the genetic testing: 1. that counselling by a genetic counsellor will be provided to the plaintiff and (should they require it) her parents; 2. that sampling will occur after counselling; 3. that sampling will be undertaken by a geneticist/genetic counsellor; 4. that the genetic material will be sent to a NATA or CLIR accredited testing laboratory, noting that Victorian Clinical Genetic Services is such a laboratory; 5. that the testing proposed will be whole genome testing, testing for fragile X, and SNP (Single Nuclear Type Polymorphism) micro array testing; and 6. that the defendant will make the upfront payment for the costs associated with counselling and testing, such costs being costs in the cause.
16. The defendant submitted that an order for testing should be made for the following reasons: 1. testing of this type falls within the ambit of UCPR 23.4; 2. the testing goes to an issue of substance in the proceedings; 3. testing has the capacity to throw light on the issues of causation and damage; 4. testing is a reasonable step to take to ensure that the issues bearing on the determination of proceedings are assessed; 5. when determining whether to make the order, the Court need not be satisfied that the issue will ultimately be determined in the defendant's favour; and 6. there is no particular factor relevant to the plaintiff telling against the grant of the order.

The plaintiff's submissions

1. The plaintiff's case on causation is that set out by Dr Harbord, paediatric neurologist, in a series of reports. Her case is is that she suffers from significant deficits in her behaviour, speech, language and learning as a consequence of a prolonged period of moderate elevation in intracranial pressure due to the defendant's failure to identify her macrocephaly and refer her off so that it could be diagnosed and treated. The defendant disputes that the plaintiff's various deficits were in any way caused or contributed to by the prolonged, untreated hydrocephalus. The defendant relies upon reports from two paediatric neurologists, Dr Ryan and Dr Kornberg, who, in slightly different ways, suggest that: 1. the plaintiff's prolonged hydrocephalus was unlikely to result in an increase in intracranial pressure sufficient to cause symptoms; and 2. the plaintiff's poor condition at birth and subsequent course are more likely related to some, as yet undiagnosed, underlying genetic syndrome.
2. The plaintiff submitted that there are a small number of factual matters that arise from the defendant's submissions that require some comment.
3. The first is that the ophthalmologist who reviewed the plaintiff on 23 April 2013 identified "No ocular findings of raised intracranial pressure", not "no ocular findings and raised intracranial pressure". The second is that Dr Liangas' notes record certain information regarding the egg donor's children, the accuracy of which the plaintiff disputes.
4. The plaintiff submitted that the starting point for consideration of the application is what form of testing the defendant actually seeks, which the defendant has failed to clearly articulate. What seems to be sought is whole exome sequence and whole genome sequence testing, SNP micro­array/array CGH and any other tests appropriate for the investigation of a genetic cause of the plaintiff's condition. It would seem that the defendant intends to leave open the possibility of further genetic testing once a clinical geneticist reviews the plaintiff prior to taking her blood or saliva. Dr Kennedy suggests that once the plaintiff has been seen by a clinical geneticist for clinical examination and assessment, the clinical geneticist will make an assessment as to the most appropriate molecular testing to order.
5. The plaintiff submitted that when one considers what the defendant's two expert clinical geneticists, Drs Kennedy and MacLean, actually cover in their reports, it is evident that they say nothing as to the actual prospects of the genetic testing. They propose turning up a genetic explanation for the plaintiff's various deficits and disabilities. They simply note that genetic testing to date has not been exhaustive, emphasising the advances in genetics which have occurred since the plaintiff saw her own treating clinical geneticist, Dr Edwards, in 2013.
6. In that regard, the plaintiff argued that it is important to recall that Dr Edwards organised testing for VACTERL syndrome, the genetic condition which appears to most closely fit with the plaintiff's presentation, but the plaintiff did not fit the diagnostic criteria. Dr Edwards also tested for Fanconi anaemia, which came back negative. He noted in his correspondence at the time that he elected not to perform a CGH micro-array in circumstances where "I realised that [the plaintiff] had normal intelligence and would therefore not need my usual test, a CGH micro­ array to check for chromosomal duplications or deletions, as the significant ones are usually associated with an intellectual disability'".
7. In terms of the tests that the defendant seeks to order, the plaintiff submitted that it is important to note what Dr MacLean and Dr Kennedy actually stated. Dr MacLean suggested that the differences between the plaintiff's presentation and those of children with more typical VACTERL features is sufficient to warrant extensive molecular investigation using currently available benchmark technologies, namely whole genome or whole exome sequencing, SNP micro-array and fragile X testing (Report of 27 September 2019, p 2).
8. However, later in his report, Dr MacLean acknowledged that he could not conceive of any genetic condition which involves an association between the plaintiff's two key presentations at birth, being ano-rectal malformation and a Blake's Pouch cyst with hydrocephalus (Report of 27 September 2017, p 3). Dr MacLean went on to indicate that his "key recommendation" for the "primary test" he recommended was WES or WGS, adding that an SNP chromosome micro-array may increase the diagnostic yield as compared to the CGH that was performed in 2013. He also recommended fragile X testing, but added that an abnormal fragile X result would not explain the Blake's pouch cyst or ano-rectal malformation (Report of 27 September 2019, pp 4 and 5).
9. Dr Kennedy noted that the options for further genetic testing included a chromosomal micro-array test, fragile X test (even though it would be less likely in a female) and molecular testing for a panel of up to several hundred genes known to be associated with autism or hydrocephalus or a clinical exome test (Report of 24 September 2019, p 2). Dr Kennedy explained that whole exome sequencing WES "can be used to identify the underlining molecular basis of a genetic disorder in an affected individual and is best suited for patients who have a genetic condition that routine genetic testing has not been able to identify".
10. The plaintiff submitted that on the evidence, the Court cannot be satisfied that the issue of what caused or contributed to the plaintiff's various disabilities will be illuminated by the results of the proposed genetic tests. One reason for this is that, while Dr MacLean and Dr Kennedy propose the tests, it would appear that it is more out of hope than expectation that they will return any result which would explain the plaintiff's problems. Based on the views of both Drs MacLean and Kennedy, it would seem that whole exome or whole genome sequencing (not both) would be the test with the greatest diagnostic power and prospects of arriving at a genetic diagnosis, noting the negative results of the genetic testing already organised by Dr Edwards.
11. However, the plaintiff argued that it is telling that neither doctor speaks to the prospects of obtaining a diagnostically useful result, and it must be inferred that the defendant's solicitors consciously chose not to ask them the question.
12. On the other hand, Dr Amor has indicated his view that it is unlikely that the plaintiff's various features share a single genetic cause. As such, it is unlikely any genetic testing will arrive at a specific genetic cause for her presentation. Dr Amor went further to indicate that whole exome and whole genome sequencing was unlikely to yield a result because it is designed to detect monogenic disorders (caused by a single gene mutation with large effect) and therefore not helpful in detecting the genetic factors that contribute to multi-factorial disorders. Dr Amor put the prospects of a pathogenic variant being detected by whole exome or whole genome analysis at less than 10%.
13. In light of the view of Drs MacLean and Kennedy and the unchallenged views of Dr Amor, the plaintiff submitted that the causation issue is very unlikely to be illuminated by the results of the proposed tests.
14. The plaintiff submitted that although these are reasons enough for the Court to decline the order sought for genetic testing, it is important to understand the limited potential for a diagnostically useful genetic result.
15. As Dr MacLean explained in his 27 September 2019 report, one of the advances in genetics in the last decade is the identification of a number of conditions called ciliopathies, which are understood to have an association with hydrocephalus. Dr MacLean explained that mutations in cilia and ciliopathy pathway genes can be associated with hydrocephalus as well as being associated with a range of other disorders.
16. The plaintiff submitted that even if the proposed genetic testing identified a ciliopathy which was thought to have brought about the plaintiff's Blake's pouch cyst and hydrocephalus, that would be no answer to the claim brought against the defendant. That is, even if there was a genetic basis to the Blake's pouch cyst and hydrocephalus, that would not demonstrate that it was the ciliopathy, as opposed to the consequent hydrocephalus and raised intracranial pressure, that caused the plaintiff's injury. It would not necessarily detract from the defendant's liability for failing to identify the macrocephaly and to organise further testing so that the hydrocephalus could be definitively treated.
17. It would only be if an identified genetic condition, such as ciliopathy, could be shown to cause both the hydrocephalus as well as the behavioural, speech and developmental issues, that the defendant's liability would be in any way reduced. The plaintiff argued that tellingly, neither Dr MacLean nor Dr Kennedy suggested that such a result from genetic testing is possible, let alone probable.
18. The unanswered evidence from Dr Amor is that even in the very unlikely event that a pathogenic variant were identified on whole exome or whole genome sequencing, it would not be possible to determine from the genetic testing whether other factors may or may not have contributed to the plaintiff's deficits and disabilities. In other words, even if a pathogenic variant were identified through whole exome or whole genome testing, that would not exclude the causative role of the plaintiff's prolonged untreated hydrocephalus, which itself may have been caused by the pathogenic variant.
19. The plaintiff further submitted that Dr Edwards specifically decided against performing SNP micro-array/array CGH testing back in 2013 because he did not consider it to be indicated in light of the plaintiff's normal intelligence. There is no evidence to suggest any likelihood of such testing returning a result which will illuminate the causation issue in this case.
20. As for the defendant seeking an order for "any other tests appropriate for the investigations of a genetic cause of the plaintiff's condition", the plaintiff submitted that there is no warrant for the Court making such an open-ended order. The plaintiff argued that the defendant has failed to appropriately confine its request by clearly identifying the purposes of the testing in the order.
21. As to the second issue on the application for genetic testing, the plaintiff submitted that there are particular factors specific to the plaintiff which tell against ordering the testing. In addition to its lack of utility, the plaintiff is hypersensitive to touch and finds the process of taking blood to be traumatic. As such, if an order is to be made for any form of genetic testing, it should be by way of a saliva sample.

Resolution

1. No hearing date has been allocated. However, given the nature of this claim, if the plaintiff is ultimately successful at trial, she will be awarded a large amount in damages.
2. As previously stated, 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, or that there must be an issue of substance which will be illuminated by the results of the proposed tests. Again, I note that the Court does not have to be satisfied that the issue will ultimately be determined in the defendant's favour.
3. The defendant's paediatric neurologist, Dr Ryan, is of the view that the plaintiff's condition has been consistent with an underlying genetic syndrome with dysmorphic features, and her concomitant neuro-behavioral deficits are more likely related to an underlying syndrome than the consequences of chronic ventricular dilatation/hydrocephalus. Dr Ryan stated that on the MRI scan of April 2013, there was no evidence of transependymal CSF flow, which is seen on MR imaging (CB 266). Dr Kornberg also considers that the plaintiff's deficits are more likely related to an underlying genetic disorder than the consequence of her hydrocephalus.
4. The plaintiff's paediatric neurologist, Dr Harbord, accepted that it is "possible that [she] has an as yet previously unrecognised genetic syndrome". He also agreed that most or all of the genetic conditions for which Drs Kennedy and Edwards suggest testing in their report are genetic conditions which may be responsible for the plaintiff's hydrocephalus.
5. In 2003, the plaintiff underwent testing for VACTERL syndrome, the genetic condition which appears to most closely fit with her presentation. She did not fit the diagnostic criteria. She was also tested for Fanconi anaemia, which she was found not to have. Dr Edwards noted that he elected not to perform a CGH micro-array in circumstances where "the significant [cases] are usually associated with an intellectual disability", as the plaintiff was and is of normal intelligence.
6. Dr MacLean, the clinical geneticist, will be tasked with the genetic testing if ordered. He observed that recent technologies have improved genetic diagnoses by genetic sequencing. Determining a genetic basis for certain conditions does not necessarily require a discrete or immediate recognisable brain malformation or clinical signs.
7. For his part, Dr Amor expressed the view that whole exome and whole genome sequencing was unlikely to yield a result in the plaintiff's case. He stated that such sequencing is designed to detect monogenic disorders caused by a single gene mutation with large effect, and is not helpful in detecting the genetic factors that contribute to multi-factorial disorders.
8. I accept that Dr Amor is the only expert who puts the prospects of a pathogenic variant being detected by whole exome or whole genome analysis at less than 10%. Drs Ryan, Kornberg and Harbord consider it likely that the plaintiff's condition has a genetic basis. It is therefore my view that there is sufficient evidence that the proposed testing has the capacity to throw light on whether the plaintiff's condition is due to a genetic disorder, and that all the tests should be undertaken. To put it another way, I am satisfied that there is an issue of substance which will be illuminated by the results of the proposed tests.
9. Having reached that determination, I do not agree that the defendant should be permitted a wide-ranging discretion to conduct any other tests relevant to the investigations of the genetic cause of the plaintiff's condition. Hence, I dismiss para 2 of the amended notice of motion. I make an order in accordance with para 2-(e), inclusive, of the amended notice of motion.

Blood or saliva test?

1. The defendant referred to two entries in the clinical notes (Ex 1). One, dated 14 April 2012, records, "Immunisation - 4 year old". The other, dated 7 September 2012, records, "Muscle weakness, mother would like a blood test for her daughter…" The defendant submitted that these entries constitute evidence that the plaintiff is able to undergo blood tests.
2. An undated medical certificate issued by Dr Ahmed El Ayoubi, general practitioner at Hamilton Park Medical Practice, certified that the plaintiff is one of his regular patients. He says that it is very difficult to get a blood test from the plaintiff, as she is extremely uncooperative and poses a danger to both herself and the pathology collector unless she is sedated. Counsel for the plaintiff submitted that in these circumstances, a buccal test is more appropriate.
3. It may be possible to do each and all of the tests on a buccal sample at the laboratory at Victorian Clinical Genetic Services, obviating the need for a blood test (Report of Dr Kennedy, 24 September 2019, CB 306-308). The buccal sample can be used to test the whole exome or whole genome sequence or to determine if there is an identifiable genomic/genetic basis to the plaintiff's results. Dr Kennedy says that this buccal sample may be used to repeat the chromosome microarray using a SNP array, but has a greater diagnostic sensitivity and fragile X DNA testing, which requires a specific diagnostic test separate to exome or genome sequencing.
4. The tests can be done from a buccal sample, albeit where there may be two tests that have greater diagnostic sensitivity. This would mean that the plaintiff does not have to be sedated in order to undergo a blood test. In these circumstances, the buccal sample is the preferable course, as it will cause the plaintiff less distress. I order that a buccal sample be taken. I make an order that the plaintiff attend to Dr Ken MacLean for the purposes of counselling and provision of the sample.
5. I do not grant a stay of proceedings at this stage. If the plaintiff does not attend to Dr Ken MacLean, I grant the defendant liberty to apply for a stay of proceedings. I order that the sample found be subject to the testing as arranged by the defendant, and that the defendant provide a copy of the report with respect to the testing upon the plaintiff's solicitor within 72 hours of receipt of that report. I also order that the defendant pay the costs of the medical examination and the testing.

(2) Particulars

1. UCPR 15.10 reads: "15.10 Order for particulars (1) The court may order a party to file- (a) particulars of any claim, defence or other matter stated in the party's pleading or in any affidavit relevant to the proceedings, or (b) a statement of the nature of the case on which the party relies, or (c) if the party claims damages, particulars relating to general or other damages. (2) Without limiting subrule (1), if a pleading alleges that a person had knowledge or notice of some fact, matter or thing, the court may order that party to file- (a) if the pleading alleges knowledge, particulars of the facts on which that party relies, and (b) if the pleading alleges notice, particulars of the notice."
2. It is well settled that the Court may order particulars where they are necessary to inform an opponent of the case to be met: see Sims v Wran [1984] 1 NSWLR 317.
3. The particulars sought are as follows. 1. What is the name and address of the medical practitioners who provided TL with treatment (including ante-natal treatment) in the period between 1 July 2006 and 1 July 2009? 2. What is the name and address of the obstetrician who delivered the plaintiff on 24 March 2008? 3. What is the date of birth of the plaintiff's sibling? 4. Did the same egg donor who donated the egg[s] which was/were used in the conception of the plaintiff donate the egg[s] which was/used in the conception of the plaintiff's sibling? 5. What is the name and address of the hospital where the plaintiff's sibling was born? 6. Did the plaintiff's sibling require any medical treatment immediately following his birth? If so, specify what treatment. 7. Has the plaintiff's sibling been diagnosed any of the following: 1. autism spectrum disorder, 2. attention deficient hyperactivity disorder, 3. epilepsy, 4. emotional dysregulation, 5. eye sight complications, 6. dysphasia, 7. dyspraxia, 8. anxiety, 9. depression, 10. sensory hypersensitivity, or 11. bowel issues? 1. If yes, to any part of question 7, specify the dates these diagnoses were made. 2. What are the dates of birth of all the biological children of the egg donor who donated the egg[s] which was/were used in the conception of the plaintiff [the egg donor]? 3. What is the name and address of the hospital where the biological children of the egg donor were born? 4. Did any of the biological children of the egg donor require any medical treatment immediately following his/her birth? If so, specify what treatment. 5. Have any of the egg donor's biological children been diagnosed of any of the symptoms as set out in question 7? 6. If yes to any part of question 12, specify the dates these diagnoses were made.

The defendant's submissions

1. The defendant's solicitor enquired as to whether the plaintiff had undergone any genetic testing. The result was that the only tests that were undertaken were those recommended and referred to by Dr Edwards in 2003.
2. The defendant's solicitors wrote to the plaintiff's solicitors requesting particulars of the donor, the IVF clinic and the treating doctors of the biological father and egg donor. The plaintiff did not consent to provide the information.

The plaintiff's submissions

1. The plaintiff submitted that properly understood, what the defendant seeks in this matter is not an order for particulars of the plaintiff's claim (in the sense of any matter pleaded in the statement of claim or any claim for damages made by the plaintiff). Rather, what the defendant seeks is that the plaintiff provide information relating to her, her mother, her siblings and the egg donor, in order to discover something of use in defending her claim. The plaintiff submitted that this effort is not a permissible use of particulars, and the Court ought not to order them.
2. The plaintiff referred to Bellamy v Bennett [1999] NSWSC 912, where Malpass AsJ stated at [18]-[20]: "[18] It was submitted that the defendant was in substance seeking an order for particulars of the plaintiff's claim. In my view that contention is untenable. In the course of argument, it was also said that Pt33 particulars form part of the pleadings in a personal injury case. In my view, that contention is also untenable. For completeness, it should be stressed that what is sought in this case is not further particulars of something alleged in the Pt33 particulars. [19] It is abundantly clear that the defendant is not in fact seeking an order for particulars of any matter pleaded in the Statement of Claim or for particulars of any claim for damages made by the plaintiff. It is in substance an application for an order that the plaintiff provide information (the names and addresses of doctors who treated her during the five years prior to the date of the accident) which it is hoped may throw up something of use in the defending of her claim. It is largely in the nature of a fishing expedition. The function of particulars is well established by authority. The defendant's request falls well outside the scope of that function. It may be added that the request was not even limited to matters in issue (such as treatment relevant to the injuries particularised in the Statement of Claim). [20] I do not consider that the defendant has made out a case for relief under either Pt16 r7 or Pt26 r1 [Supreme Court Rules]. In my view, the review has not provided any proper basis for disturbing the decision of the Acting Prothonotary."

Resolution

1. The issue is whether these particulars are necessary to inform the opponent of the case to be met. Particulars 3-13 go far beyond what is pleaded as being the plaintiff's case in the statement of claim. The plaintiff has not yet undergone the genetic testing. Particulars 3-8 concern the plaintiff's brother. It may be that the genetic testing does not assist the defendant's case. Particulars 9-13 relate to the egg donor and her family. In my view, these particulars are not necessary to inform the opponent of the case it has to meet. Furthermore, as part of the IVF treatment the plaintiff's mother received in respect of the birth of her children, she signed a confidentiality agreement pursuant to which she was not permitted to identify the egg donor. The plaintiff's mother did not retain a copy of the confidentiality agreement. She is very concerned about any step being taken in these proceedings which would permit the egg donor or her children to being identified (Affidavit of Giuseppe Bonura, 19 July 2019 at [5]). For these reasons, I disallow particulars 3-13.
2. In relation to particulars 1 and 2, I allow particular 2 to be answered and I allow particular 1 to be answered, but it is to be limited to the time period of the mother's pregnancy with the plaintiff, as these records are relevant to the plaintiff's developmental history. As such, I reduce the time frame to the 10 months between 24 May 2007 to 24 March 2008.
3. I order that the plaintiff is to answer particular 2, and particular 1 is to be answered for the period of 24 May 2007 to 24 March 2008.

(3) Access to documents produced on subpoena

1. The defendant has sought access to all documents produced on subpoena by the Proper Officer, Sydney IVF, and a subpoena to Dr Geoffrey Donald Reid.
2. The plaintiff has withdrawn her claim for privilege except in respect of 6 documents that she says are not relevant. They are as follows: 1. a comment sheet (3 pages) relating primarily to payments; 2. an embryology record (2 pages); 3. a request and consent for medical and surgical treatment dated 16 July 2009 (6 pages); 4. a request and consent for medical and surgical treatment dated 6 June 2007 (4 pages); 5. total care progress notes dated 16 June 2007 (1 page); and 6. total care progress notes dated 30 July 2009 (1 page).
3. The plaintiff has offered to produce copies of these documents with the name of the egg donor redacted. The defendant opposes this course of action.

The defendant's submissions

1. The defendant's submissions have essentially been set out earlier under the heading "Particulars".

The plaintiff's submissions

1. The plaintiff opposes the defendant having access to the limited number of documents produced under subpoena which identify the egg donor.
2. The plaintiff does not maintain a claim of privilege over the documents. Rather, she opposes the defendant having access on grounds of relevance, emphasising that the documents identify a third party to the proceedings with no knowledge of or involvement in them.
3. The egg donor is a stranger to these proceedings, and the plaintiff's mother is very concerned to protect her privacy consistent with a confidentiality agreement she signed as part of her IVF treatment. The plaintiff's mother is particularly concerned that the treatment records of the egg donor and her children may then be subpoenaed.
4. The plaintiff disputes that the defendant has identified a legitimate forensic purpose in accessing the records which identify the egg donor. The plaintiff submitted that the defendant is seeking information about the egg donor in order to trawl through her records for evidence of her children suffering from some disability or deficit. This amounts to fishing and should not be permitted.

Resolution

1. Rule 33.4 of the UCPR provides: "33.4 Setting aside or other relief (cf SCR Part 37, rule 4) (1) The court may, on the application of a party or any person having a sufficient interest, set aside a subpoena in whole or in part, or grant other relief in respect of it. (2) An application under subrule (1) must be made on notice to the issuing party. (3) The court may order that the applicant give notice of the application to any other party or to any other person having a sufficient interest."
2. In R v Saleam [1999] NSWCCA 86 ("Saleam"), Simpson J (Spigelman CJ and Studdert J agreeing) stated the test for determining whether a party is to be granted access to documents produced on a subpoena are no different from those governing applications for access to documents produced in answer to a subpoena. In Saleam at [11], His Honour stated that before access is granted or an order to produce is made, the applicant must identify a legitimate forensic purpose for which access is sought, and establish that it is "on the cards" that the documents will materially assist his case.
3. The defendant has submitted that the plaintiff's mother has contact with the egg donor and that the donor's older son has significant learning difficulties. The donor apparently has two sons. One has bowel problems, and his twin has autism. According to the defendant, the plaintiff's mother is aware that the egg donor's children have developmental issues, and one may have attention deficient hyperactivity disorder.
4. While the plaintiff's mother admits that she has had contact with the egg donor, her position is that she has never been informed by the egg donor that the donor's older son has significant learning difficulties. She has never been informed by the egg donor that she has twins, one with bowel problems and the other with autism, nor has she been informed by the egg donor that the egg donor's youngest child possibly has attention deficient hyperactivity disorder (Affidavit of Giuseppe Bonura, 19 July 2019 at [4]).
5. I am unable to resolve this disputed evidence at this hearing, although if I were required to on this interlocutory application, I would prefer the plaintiff's mother's evidence on this topic. This is because the defendant's evidence is scant, consisting of a handwritten reference to the egg donor's children's medical condition with diagrams (CB pp 60, 80, 81) and a clinical report by Dr Keith Knight Child, an adolescent psychiatrist dated 24 March 2008, in which he noted that the plaintiff and her sibling were born after egg donor IVF and that the plaintiff's mother had discovered that the egg donor's children had developmental issues and one might have attention deficient hyperactivity disorder. The source of this information is unknown.
6. As previously stated, the plaintiff says that she signed a confidentiality agreement pursuant to which she was not permitted to identify the egg donor, although a copy of that agreement cannot be found.
7. There is also a public interest issue involved. At the hearing of these proceedings, I asked the parties to address this issue, but no submissions were made on this topic.
8. Section 3 of the Assisted Reproductive Technology Act 2007 (NSW) sets out the objects of the Act. They include protecting the interests of people born as a result of assisted reproductive technology treatment.
9. Division 3 of the Assisted Reproductive Technology Act is entitled "Access to Information". It contains ss 41R to 41X. Section 41R sets out the objects of the Division, and relevantly reads: "41R Objects of Division The objects of this Division are: (a) to enable a person born as a result of ART treatment provided by an ART provider using a donated gamete (or if the person is a child, the parent of the person) to make an application for certain non-identifying information about the donor in circumstances where that information may not be held in the central register, and (b) to ensure that as far as possible, the information, if still available, will be provided to the applicant. (my emphasis)
10. Section 41S reads: "41S Meaning of 'accessible information' about a donor In this Division, accessible information about a donor means the following information about the donor but only to the extent that it is non-identifying information: (a) the ethnicity and physical characteristics of the donor, (b) the relevant medical history of the donor, (c) the sex and year of birth of each offspring of the donor." (my emphasis)
11. Suffice to say that the Assisted Reproductive Technology Act protects the identity of the egg donor. The egg donor has a sufficient interest in whether her identity is disclosed. She would need to be heard on this application if she so wishes. It is also my view that it is a matter of public interest whether or not a donor's identity should be disclosed in circumstances such as these. Without the plaintiff having undergone genetic testing, there is no legitimate forensic purpose for which the access is sought, nor is it "on the cards" that the documents will materially assist the defendant's case. If the genetic testing supports the defendant's case, the egg donor, as "a person interested", would need to be given notice of the application pursuant to UCPR 34.4(3). The plaintiff is prepared to provide copies of the 6 redacted documents so as not to identify the egg donor and provide them to the defendant. I accede to this course of action.

Costs

1. Costs are discretionary. The appropriate order in these circumstances is that the costs of the further amended notice of motion filed 25 July 2019 are reserved.

The Court orders that: 1. Paragraph 2 of the amended notice of motion is dismissed. 2. Pursuant to UCPR 23.4, the plaintiff is to provide a buccal sample for the purposes of: 1. whole exome sequence testing; 2. whole genome sequence testing; 3. SNP microarray testing; 4. array CGH testing; and 5. fragile X testing as set out in para 2-(e) inclusive of the amended notice of motion. 1. The plaintiff is to attend on Dr Ken MacLean for the purposes of counselling and provision of the sample. 2. If the plaintiff does not attend on Dr Ken MacLean, the defendant is granted liberty to apply for a stay of proceedings. 3. The sample found is to be subject to the testing as arranged by the defendant. 4. The defendant is to make available a copy of any report with respect to the testing upon the plaintiff's solicitor within 72 hours of receipt of that report. 5. The defendant is to pay the costs of the medical examination and testing. 6. The plaintiff is to answer particular 2, and particular 1 is to be answered but only in respect of the period of 24 May 2007 to 24 March 2008. 7. The plaintiff is to provide copies of documents 1 to 6, redacted so as not to disclose the egg donor's identity, to the defendant's solicitor within 14 days. 8. The costs of the further amended notice of motion filed 25 July 2019 are reserved.

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: 03 April 2020