Do Medical Practitioners have a duty to disclose Genetic Disorders despite the Principles of Confidentiality?
March 25, 2020
By Trudi Olivia Moore
An analysis of the ethical and legal considerations underpinning a decision to inform a patient’s relatives about a diagnosis of a genetic disorder in light of the recent judgment handed down in ABC v St Georges Healthcare and Others [2020] EWHC 455 (QB).
In the era of substantial medical scientific advances, it is necessary to recognise the potential for unfavourable consequences to be borne out of celebrated technological evolution. In 2017, I completed a Healthcare Ethics and Law LLM in which I wrote my dissertation on the ‘Principle of Procreative Beneficence’ and Eugenics. These areas are multifaceted and in order to reach a reasoned conclusion regarding the moral debates underpinning them, it was necessary to engage in a lengthy consideration of a number of ethical and legal arguments. Subsequently, I focused upon the area of genetic testing and the ability for parents to make choices about their unborn child. This included an in-depth analysis of genetic testing and the subsequent diagnosis of genetic disorders.
Inherent in a diagnosis of a hereditary condition is the inevitable involvement of relatives of the patient. Previously, this was an unusual situation for the medical profession to face, however, it is becoming increasingly commonplace in modern day medicine. Genetic disorders, genetic testing techniques and the principle of confidentiality pose ethical and legal dilemmas for medical professionals, legal practitioners and academics. In situations where a patient withholds consent for disclosure of a diagnosis, medical practitioners must undertake a balancing exercise between the established duty of care between a doctor and their patient, the principles of confidentiality and the further potential duty of care which may arise towards a relative. There has been a degree of ambiguity within the way in which medical professionals should undertake this balancing exercise and a wealth of academic commentary and guidelines have attempted to provide clarity to such decisions. However, a reoccurring concern is that doctors may be found liable for breaching a patient’s right to confidentiality, following deliberation about disclosure without consent to a relative. Hence, the judgment of ABC v St Georges Healthcare and Others [2020] EWHC 455 (QB), handed down by Mrs Justice Yip on 28th February 2020, warrants consideration.
The case has a long procedural history, having first been heard by Nicol J in 2015, and being struck out on the grounds of there existing “no reasonable cause of action.” However, in 2017, the Court of Appeal ordered that the matter should proceed to trial. It was eventually heard by Mrs Justice Yip in November 2019 and January 2020 in the Royal Courts of Justice (QBD).
Circumstances giving rise to the claim
The claimant (ABC), brought the action against three NHS Trusts. ABC alleged that the defendants had breached a duty of care owed to her and/or acted contrary to her rights under Article 8 of the ECHR in failing to alert her to the risk that she had inherited the gene for Huntington’s disease in time for her to terminate her pregnancy. She sought damages for the continuation of her pregnancy, psychiatric damage and consequential losses.
The matter is based on a complex and noteworthy set of circumstances which are plainly sensitive in nature. In 2007, ABC’s father (XX) killed her mother. He was convicted of manslaughter by reason of diminished responsibility and detained at a secure hospital, managed by the second defendant. From an early stage, concerns were raised that there may be an underlying medical reason for a number of the physical and mental symptoms that XX had been experiencing.
As a consequence of XX’s placement in the hospital, his family were offered support through Family Therapy sessions, in which the claimant and her sister, began attending in March 2009. It was clear that despite the claimant’s heartache regarding the loss of her mother and XX’s placement in a secure hospital, she continued to support XX.
Over the following 24 months, further investigations were carried out in relation to the symptoms that XX was experiencing. There were clear suspicions that XX suffered from Huntington’s Disease, however, he had refused to undergo genetic testing. Consequently, XX became the subject of much deliberation. The details of the investigations are too voluminous to discuss within this article; however, the breadth of these investigations should not be underestimated. A number of medical professionals were involved in the management of XX and long discussions were had between various specialties about the potential ramifications of a diagnosis, on XX’s family.
Eventually, XX agreed to genetic testing, and he was diagnosed as suffering from Huntington’s Disease on 9th November 2009. Huntington’s Disease is a genetic neurodegenerative disorder. It is an autosomal dominant trait. Therefore, the child of someone who has been diagnosed with the condition, has a 50% chance of being affected by the disease, later in life. Unfortunately, the disease is incurable and reduces life expectancy.
By coincidence, the claimant became pregnant in July 2009 and by the time of the diagnosis, she was 24 weeks pregnant. Those involved in the care of XX recognised the gravity of his diagnosis and were aware that should the claimant be informed about it, it may impact her decision regarding the continuation of her pregnancy. It was agreed that the last date for a termination was 6th December 2009, less than a month later. XX maintained that he wished his diagnosis to be kept confidential and did not want the claimant’s pregnancy to be jeopardised. Subsequently, the claimant gave birth in April 2010.
In August 2019, it was accepted, following differing accounts, that XX’s confidentiality was breached when a Consultant Forensic Psychiatrist, in charge of XX’s care, informed the claimant of XX’s diagnosis. By this time, the claimant’s sister had also fallen pregnant. The diagnosis was not revealed to her as XX continued to withhold consent to disclosure. Surprisingly, the claimant had also expressed that she did not wish for sister to be informed. The claimant’s sister learnt of the diagnosis after giving birth. The child did not carry the genetic mutation.
The claimant was tested in 2013 and was found to have the Huntington’s gene. As expected, this caused great distress to the claimant as she was worried for her child’s future. The claimant was expected to develop symptoms within five to ten years.
The issues that Mrs Justice Yip identified for determination were as follows;
(i) Did any of the defendants owe the claimant a duty of care? This consideration was convoluted because on the face of it, the claimant did not constitute a patient in the terms of a normal doctor-patient relationship.
(ii) If a defendant did owe the claimant a duty of care, the nature and scope of the duty was to be assessed and the possibility that such a duty was breached by failing to give the claimant information which allowed her to terminate her pregnancy. This issue inevitably required an evaluation of the principle of confidentiality.
(iii) If there was a breach of duty, did it cause the continuation of the claimant’s pregnancy? Of course, this includes a consideration of whether the claimant would have had the opportunity to have the testing in time for a termination to take place and whether or not the claimant would have opted to terminate.
A duty of care?
Counsel for the claimant advanced a number of arguments in support of the existence of a duty of care which appeared to organically evolve by the time the case reached trial. At trial, essentially, the duty of care relied on the following three grounds, albeit they appeared to overlap to a degree;
(i) The claimant was a patient of the defendants, (or at least the second defendant). Therefore, the case falls within the scope of the established duty of care arising out of a doctor-patient relationship;.
(ii) The forensic psychiatry unit (of the second defendant) who were involved in the care afforded to XX, assumed responsibility for the welfare of the claimant. This argument arose out of reliance on the fact that the claimant attended the family therapy sessions and that the claimant had a long-standing relationship with the second defendant. This argument contained considerations which were also relied upon in (i);.
(iii) By application of established principles to the facts of this case by incremental extension (Caparo v Dickman [1990] 2 AC 605).[1], [2] This would recognise that the matter is novel. In Caparo, the view of Brennan J in Sutherland Shire Council v Heyman (1985) was applied where he said that the law should develop novel categories of negligence incrementally and by analogy with established categories..
The defendants had remained united on their defence from the beginning of the claim and did not seek to apportion blame, should liability be established. The defendants denied that the claimant was their patient and said that she was a third party. They maintained that the duty of care owed to XX, did not cover the claimant. They also denied any assumption of responsibility. Counsel for the defendants said that it was not fair, just and reasonable to impose a duty in this case. Essentially, the case for the defendants was that the claim was novel in nature.
Yip J split her consideration of the claimant’s submissions regarding a duty of care, into three parts, in order to reflect the three arguments, put forward (as above). It is useful to note from the outset that she was unable to find that there was any close proximal relationship between the first defendant and the claimant, and she thought it unnecessary to consider the third defendants’ relationship with the claimant further as no specific allegations of negligence were made against them, at trial. Therefore, most of her judgment focused upon the second defendant.
It was found that the claimant was a patient of the second defendants family therapy team. However, it was noted that the diagnosis did not become known through the family therapy and was instead, acquired in the context of the treatment and management of XX. The family therapy team had noted that they wished to inform the claimant of the suspicions and subsequent diagnosis, however, refrained from doing so as they believed that the decision lay with the consultant forensic psychologist responsible for XX’s clinical care. This was based on the fact that he had acquired information about the diagnosis whilst holding the position of XX’s treating clinician. Yip J found that the claimant was not in a doctor-patient relationship with the treating clinician.
The question that arose from the duty of care between the second defendant’s family therapy team and the claimant was whether or not there had been a breach of the duty. Yip J concluded that there had not been a breach and that the duty owed to the claimant in the context of the therapy was to conduct the sessions with reasonable care and skill. It does not extend to cover subjects outside of the family therapy sessions.
The court moved on to consider whether the second defendant assumed responsibility for exercising reasonable skill and care in undertaking family therapy as to avoid harming her. It was noted that the claimant’s case is wide and essentially states that the defendants assumed responsibility for deciding whether the claimant should be told of XX’s diagnosis. This was rejected by Yip J and she decided that she does not consider that the claimant can rely upon an assumption of responsibility to bring her within the established category of cases where a duty of care exists. Yip J places importance on the fact that the details of this case make it novel in nature and a duty of care has not been previously recognised.
A novel case
Based on the above findings, Yip J considered the third argument submitted by the claimant. The question was whether the court should recognise a duty in the novel situation at hand. It is consistently highlighted in her judgment that she must consider the factual matrix of the case before her. This reasoning is in line with Caparo v Dickman & Others when Lord Bridge of Harwich preferred that the law was used to develop “novel categories of negligence incrementally and by analogy with established categories, rather than by a massive extension of a prima facie duty of care.”[3]
The focus of discussion was on the second defendant. Yip J concluded that there was a close proximal relationship between the claimant and the second defendant. The question was whether it would be fair, just and reasonable to impose a legal duty on them. Nine policy reasons were advanced by the defendant maintaining that it was not fair, just and reasonable. Yip J found, after assessment of the nine reasons, that it was fair, just and reasonable to impose a legal duty on the second defendant.
The scope of this duty was found to extend, not only to conducting necessary balancing exercises of the claimant’s interest in being informed against XX’s interests of confidentiality, but also to act in accordance with the outcome of this. Further, Yip J considered Bolam/Bolitho principles and further GMC guidance. It is concluded that if a defendant has conducted a balancing exercise properly, in accordance with the guidance, they have discharged their duty, regardless of the decision made. If a defendant has not conducted the balancing exercise properly, the court will consider what the defendant would have done, had it been properly performed. It is noted that the courts will recognise the pressures “of day to day clinical practice and will afford considerable altitude to clinicians taking difficult decision in that context.” Therefore, should medical professionals correctly discharge their duty, it will not give rise to a cause of action, simply because others disagree with it.
In considering whether the second defendants had breached their duty towards the claimant, Yip J narrowed the issues down to one single issue; applying the relevant guidance, should confidentiality have been breached in time to allow the claimant to make a decision about her pregnancy?
This consideration included an evaluation of the principle of confidentiality. The concept of confidentiality in the medical arena has been long recognised. Mrs Justice Yip made use of the Guidance of Genetic Testing and Sharing Genetic Information of 2006, which highlighted the importance in recognising that the GMC, Nuffield Council on Bioethics and the Human Genetics Commission have all expressed the view that the rule of confidentiality is not absolute. The report notes that there are “special circumstances where it may be justified to break confidence where the aversion of harm by the disclosure substantially outweighs the patients claim to confidentiality.” A genetic risk to relatives is given as an example of such a circumstance.
Based on the evidence that all of the experts gave, Yip J was of the opinion that the case fell into the category of “matters of judgment that may be finely balanced.” She noted that the decision was a difficult and complex one and resulted in a lack of consensus in the medical opinion before her. It was clear that a great amount of discussion had been undertaken by the defendant clinical teams. The claimant was found to not have demonstrated that the views of the defendant’s experts were illogical, and Yip J concluded that the decision not to disclose was supported by a responsible body of medical opinion and cannot be considered to amount to a breach. This conclusion has ramifications for the medical profession in that it may act to provide a degree of comfort. Professor Lucassen, a Professor in Clinical Genetics and an expert witness in this matter, has commented, following the judgment, that it allows doctors to exercise and act on professional judgment without the fear of liability for breach of confidence.[4] This, to a certain extent, is true, however, doctors should be alive to the fact that the judgment also implements a clear requirement for a balancing exercise to be “properly carried out.” On one hand, the conclusions of Yip J have provided a degree of harmony in that where the emphasis was once placed entirely on the confidentiality of the patient, there is now also significant weight attached to the balancing exercise. On the other hand, it is possible to suggest that the balancing exercises carried out by doctors will be under a great amount of scrutiny to ensure that they have acknowledged their established duty to their patient, any other duties that they may hold to a relative(s) and the potential ramifications of disclosure without consent. It is likely that this will necessitate a high degree of deliberation and record keeping, between a range of specialities, as identified in this matter.
Despite Yip J finding that there had been no breach, she considered causation separately. Essentially, much of this discussion was based upon timing. Realistically, there was very little time available for the claimant to have undergone genetic testing, received the results of the tests and made a decision regarding the progression of her pregnancy within one month. It was concluded that the claimant had not proven that she would have undergone a termination if notified of the risk of the pregnancy. Therefore, even if the claimant had established a breach of duty, she would not have succeeded on the issue of causation.
Concluding remarks
In reality, the judgment in this case was anticipated by medical professionals on the grounds that it may provide them with universal guidance as to the way in which a decision to breach confidentiality, in the interests of a relative, should be assessed. Further, academics had commented, during the procedural history of this case, that they hoped for the claimant to establish breach and causation. Therefore, the judgment is likely to have caused some disappointment.
To an extent, the judgment has provided guidance to the medical arena, however, it is clear that it should not be regarded as universally applicable. Yip J noted within her judgment that it was not part of her task to attempt to look beyond this case and set out parameters for the medical profession. Therefore, in response to the question posed in the title of this article, there exists no definitive answer. However, it is likely that the guidance available from the judgment of Yip J will be utilised by doctors when deciding whether or not to disclose genetic information, against a patient’s wishes, to family members. Further, it may also act as food for thought for all specialities involved in the care of a patient, with regard to the potential for a duty of care to arise, to another individual, other than the patient.
A balancing exercise should be carried out by medical professionals, in line with GMC guidance. Should a decision be reached, following a complete exercise, it is irrelevant that others may disagree. The conclusion reached within this judgment was made based on the unique factual matrix of the case, and taking all of these details into account, it was rather unusual. Consideration will be given to each aspect of a claim in negligence and in the context of breaching confidentiality to inform a third-party family member of a genetic disease, it is recognised that each factor that is required to exist in order to establish liability will be scrutinised. Due to the sheer complexity of the ethical and legal discussion which underpins the balancing exercise, it is likely that medical professionals will be afforded a degree of leeway, providing that the exercise is proven to have been comprehensive. The judgment has equalised the importance of (1) acting to preserve confidentiality, and in turn, a patient’s autonomy, and (2) conducting a balancing exercise which assesses the potential harm caused by withholding information, to a relative. Therefore, academics may refrain from conveying discomfort in that breach and causation were not established. Instead, they should find solace in the fact that the judgment has demonstrated the high degree of care that should be exercised when making a decision regarding confidentiality.
[1] ABC v St Georges NHS Trust & Others [2020] EWHC 455 QB para 30
[2] Caparo Industries PLC. Respondents and Dickman and other Appellants [1990] 2 AC 605 < https://www.bailii.org/uk/cases/UKHL/1990/2.html
[3] Caparo Industries PLC. Respondents and Dickman and other Appellants [1990] 2 AC 605 < https://www.bailii.org/uk/cases/UKHL/1990/2.html
[4] Professor Anneke Lucassen, ABC v St Georges: exercising judgment without fear [2020] BioNews 1037 < https://www.bionews.org.uk/page_148351>
