Down the Rabbit Hole of Genetic Testing

19 April 2016 by

Can our genotype tell us about our behaviour as well as our biology?

Photo credit: Guardian

“ After this there is no turning back. You take the blue pill: the story ends, you wake up in your bed and believe whatever you want to believe. You take the red pill: you stay in Wonderland and I show you how deep the rabbit hole goes.”

– Morpheus, The Matrix

The explosion of genetic testing in the last half century has produced unquantifiable benefits, allowing scientists to understand the constitution of genetic disorders and dramatically improve disease diagnosis, avoidance and treatment. Consider the near-eradication of Tay-Sachs, a fatal neurodegenerative disease, since the introduction of screening in the 1970s; the standardisation of newborn testing; and the introduction of BRCA1 and BRCA2 testing for inherited cancer genes.

These advances have created challenging ethical and legal questions, however: How much information does each of us want to know about our genetic makeup?; Do we have a responsibility to seek such information out? What should we do with the information once we get it? What about the significant risks of stigmatisation and discrimination?; And, where do doctors’ duties begin and end insofar as they are, or ought to be aware of testing outcomes?

In the High Court last week (judgment available here) McKenna J dealt with the latter question, striking out a claim by a patient’s relatives over a missed diagnosis of a genetic disorder and holding that a third party cannot recover damages for a personal injury suffered because of an omission in the treatment of another.


Adrenomyeloneuropathy (AMN) is a rare, complex genetic disease which affects the white matter of the brain. Adrenoleukodystrophy (ALD) is its childhood version. Both are diagnosed using ‘Very Long Chain Fatty Acids’ (VLCFA) testing. On 19 March 2003, Mr Caven was seen by a Dr. Rajabally, Consultant Neurologist at the Defendant’s hospital, who requested VLCFA testing. The test was not undertaken at the time.

In March 2006, Mr Caven’s second cousin Callum Smith, aged 6 years old, was admitted to hospital unsteady on his feet and suffering a high temperature, vomiting, and loss of vision. VLCFA testing revealed he suffered from ALD. Callum’s condition was advanced and unamenable to treatment. His condition deteriorated rapidly and he died in 2012. As a result of Callum’s diagnosis, his brother Connor, who was demonstrating no clinical signs of the disease, was also tested and subsequently diagnosed as suffering from ALD. The disease was not so advanced in him and he was able to receive treatment, which proved successful in preventing further deterioration, though he continues to suffer from significant intellectual and neuropsychological problems.

Following the diagnosis of the two brothers in 2006, Mr Cavan again saw Dr. Rajabally, who told him that his second cousins had been identified with ALD. At this point Dr. Rajabally noticed that the VLCFA testing had not taken place as requested in 2003. This time, Mr Caven was tested and ultimately diagnosed with the adult form of ALD. The genetics report advised; “other members of his family are at high risk of this disorder. We strongly recommend referral to the genetic counselling services where the implications of this report and testing of other family members if required can be discussed.”

The Claim

A claim was brought on behalf of Callum and Connor, alleging that the Defendant was in breach of its duty by failing to test Mr Caven back in 2003. It was argued that had this taken place, the test would have been positive which would have resulted in testing of the wider family, as supported by the 2006 genetics report. As a result, the brothers would have been diagnosed three years earlier, which would have materially improved their outcome.

The Defendant applied to strike out the case as disclosing no reasonable cause of action on the basis that it would not be fair just and reasonable to hold that a duty existed where the Defendant was treating Mr Caven and not his wider family. The Defendants argued that where the scope of an alleged duty is to inform a third party of a diagnosis reached in respect of a patient, there is insufficient proximity between the parties for a duty to be imposed.

The Decision

The Court began by considering the three stage test in Caparo. Industries PLC v Dickman and others [1990] 2 AC 605. The Defendant conceded that that the Claimants would be able to establish at trial that injury would have been reasonably forseeable. It was argued, however, that there was insufficient proximity between the parties, and that it would not be fair, just and reasonable to impose such a duty.

In determining proximity, the Court reviewed recent authorities including: Powell v Boladz [1998] Lloyds Rep. Med 116, X v Bedfordshire County Council [1995] 2 AC 633, D v East Berkshire NHS Trust [2005] 2 AC 373 and most recently, ABC v St Georges Healthcare and others [2015] EWHC 1394 (QB). The latter case concerned a woman who’s father had been diagnosed with Huntington’s Disease, a genetic condition carrying a fifty per cent chance that the child of a sufferer will also have it. The defendant wished to disclose the diagnosis to the claimant, who was pregnant at the time, but her father refused to give permission and so it did not do so. The claimant later found out the diagnosis by chance, and brought a claim for psychiatric harm to herself and for a potential claim for wrongful birth. Her claim was struck out as disclosing no reasonable cause of action by Nicol J, on the basis that;”… this is not a case where the Claimant can show that a novel duty of care would be but an incremental development from some well established duty. It would, on the contrary, be a radical departure to impose liability in circumstances such as these.”

The Claimants in the present case sought to distinguish the facts of ABC. There was no evidence to suggest that Mr Caven would have refused to allow the fact of his AMN diagnosis to be communicated to his wider family, whereas it was the existence of a duty of confidentiality and the claimant’s father’s refusal to disclose to her his diagnosis that made it unreasonable to impose a duty in ABC. Further, the Claimants expressly pleaded (contrary to the position in ABC) a voluntary assumption of responsibility. McKenna J was unconvinced, reasoning that the judgment of Nicol J had not been dependent on those issues, rather the claim had been struck out because it was found that there was no duty between a doctor/hospital and someone who is not a patient. In his view, exactly the same considerations applied here.

On the final limb of the Caparo test, the Claimants argued that policy considerations weighed in favour of there being a duty of care where the Defendant had a clinical genetics service that investigates pedigrees in order to identify relatives at risk. The class of those who might be injured by a failure to diagnose such a genetic condition is defined and ascertainable and the scope of the duty alleged would be to take reasonable steps to provide the patient with an accurate diagnosis that would enable relatives to seek genetic testing. The Court rejected the Claimant’s case, regarding any such development as a “giant step” where the settled policy of the law is opposed to granting remedies to third parties for the effects of injuries to other people.


Practitioners of medicine are no strangers to competing interests. Patient confidentiality is of key concern, but it is not absolute. This was acknowledged recently in a 2011 Joint Report of the Royal College of Physicians, Royal College of Pathologists and British Society for Human Genetics. It stated that in special circumstances, it may be justified to break confidence where in doing so a serious harm can be avoided, although the report did not go on to illustrate any appropriate examples. Whether this will extend to a legal duty in certain circumstances remains to be seen. As noted by McKenna J, ABC is the subject of a successful application for permission to appeal, listed for substantive hearing in March 2017. Those interested in this question will have to wait and see.

Emma-Louise Fenelon is a pupil barrister at 1 Crown Office Row.

John Whitting QC acted for the Defendant in this case.  He was not involved in writing this post.


1 comment;

  1. Peter Couch says:

    It seems virtually impossible to hold the medical profession to account. My late father died after his heart failure was left untreated for 24hrs in a so-called, “Assessment Unit ” at Derriford Hospital in Plymouth. I was recently admitted to Derriford Hospital and there is still no continuity of care from A&E onwards. Patients are moved from ward to ward, often late at night, before being discharged whilst still seriously ill.

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