A recent legal case in the UK highlights the difficulties of dealing with inherited illness
It is well established that a doctor has a duty of care to their patients. Previous judgments give this concept legal authority. It is also accepted that this obligation is limited to the individual patient and not extended to others. This can be a challenging background for doctors to practice in as patient care can involve friends and family. This is particularly relevant with inherited illness. Doctors may find themselves in possession of information which they know would be of value to other family members. But other than encouraging patients to share information there is little they can do if the patient disagrees.
A recent case in the UK casts some doubt over this assertion suggesting that, in some circumstances, doctors may owe an extended duty of care to family members. In ABC vs St George’s, the claimant contended that doctors should have warned her that her father had an inherited illness. Her father (XX) had killed his wife and was convicted of manslaughter on the grounds of diminished responsibility. Following a period of detention, forensic psychiatrists felt he may have Huntington’s disease. This is a hereditary condition where children of patients have a 50 per cent chance of inheriting both the gene and the clinical syndrome. Although symptoms are not manifest until adulthood, Huntington’s leads to severe physical and cognitive impairment and a shortened lifespan. When informed of his likely diagnosis XX told doctors they were not to tell his children – he had two daughters. He feared they would either not start a family or have a termination if found they were pregnant.
Around this time one daughter (ABC – the claimant) announced that she was pregnant. XX was informed, but refused the medical team permission to tell her of his likely diagnosis. The case was discussed at the hospital ethics committee. While there was support for extended disclosure, the committee ultimately felt that XX’s wishes should prevail and the family should not be told. This may have been influenced by the fact that XX’s genetic test results were still pending. The results confirmed the diagnosis; however, they became available just beyond the point where ABC could have had a termination. As ABC’s pregnancy progressed the doctors felt the argument for disclosing the test results to her became less compelling. Several months after her child was born, ABC was visited by the forensic psychiatry team and XX’s diagnosis was disclosed to her inadvertently.
ABC made a negligence claim arguing that the doctors owed her a duty of care. She contended that had she been told of XX’s diagnosis earlier, she would have undergone genetic testing and terminated her pregnancy if her test had been positive – which, unfortunately, it ultimately was.
The claim was rejected initially; however, the UK Court of Appeal felt differently. Mrs Justice Yip stated that there was not established precedent and applied the three-part Caparo test. This test is used to determine if a duty of care is owed in novel, unusual cases. The test looks at the relationship between the two parties and considers if there is proximity, foreseeability and whether it is “fair, just, and reasonable” for one party to owe a duty of care to the other. Both legal teams accepted that proximity and foreseeability were present. Unlike the original judgment, however, Mrs Justice Yip stated that it was fair, just, and reasonable for the doctors to owe a duty of care to ABC in this case.
Despite this finding, the judge decided that ABC failed to demonstrate negligence on causation. Had disclosure been made at the time that XX’s diagnosis was confirmed, ABC would have been unable to have a termination as her pregnancy was beyond 24 weeks gestation. The negligent failure to disclose did not, therefore, translate into a change of outcome.
This case highlights the difficulties of dealing with inherited illness. Doctors specialising in medical genetics deal with these difficulties regularly and develop skills to negotiate these challenges. This judgment may encourage them to make further adjustments. Doctors who do not deal with inherited illness regularly may find it more difficult. Professional guidance does give doctors some leeway when it comes to extended disclosure; however, the common law is often more restrictive limiting disclosure to public health and criminal matters. It is this legal position which tends to frame doctors’ behaviour.
It is unclear how, if at all, the ABC judgment will affect everyday clinical practice. Does the prospect of an extended duty of care introduce new obligations and make doctors more vulnerable to negligence claims in the future? Is there anything that might have helped? If Huntington’s disease was a common illness and part of a national screening programme, ABC may well have been diagnosed prior to her pregnancy and the legal case would never have arisen.
As a vascular surgeon treating patients with abdominal aortic aneurysms (AAA) I warn them of the increased likelihood of aneurysmal disease occurring in both their siblings and offspring. I am not sure if it is fair to burden them with such an obligation. One might imagine that patients would readily inform their families, but like XX they may not. Currently, my duty of care lies only with the patient. It may be more challenging for those working in primary care. They may have different members from the same family in their practice. This conflict would certainly be more “proximal”. The ABC verdict may be specific to the circumstances; however, it has closed the gap to extended disclosure and given those who look after AAA patients (amongst others) something to think about. First degree relatives who are unaware of their risk of AAA are likely to get diagnosed eventually if the country they live in has a national screening programme. This mitigates much of the risk of any “failure to disclose” negligence claim. Many countries have AAA screening, but Ireland is not one of them. The ABC case, I believe, only strengthens an already compelling argument that Ireland should have such a programme.
The likelihood of a male sibling of an AAA patient also having AAA is 15-to-30 per cent. Although the familial incidence is lower in women, age-matched population studies suggest that in both sexes the relative risk of developing AAA is two-to-three times the population average. We have no record in Ireland of whether patients tell their siblings of their
diagnosis or whether they present for testing thereafter.
Unlike other screened illnesses, AAA does not require any invasive testing or ionising radiation. The presence or absence of AAA is detected with almost 100 per cent certainty by ultrasound. A normal aorta is less than 30mm in diameter. Surgical intervention is considered when the diameter is 50-to-60mm depending on patient’s co-morbidities. Although surgery carries a small risk of mortality, a ruptured abdominal aortic aneurysm carries a mortality rate of 80-to-90 per cent.
US, UK, Sweden, and Germany are among the many countries with AAA screening programmes. England has had formal AAA screening for males over 65 years since 2009. The programme extended to the rest of the UK in 2014. It’s not hard to see why. National data suggests it costs about £7,000 per quality-adjusted life-year (QALY) gained – less than half the cost of breast cancer. In Europe, screening is considered worthwhile if it can produce a QALY of less than €30,000.
Despite an overall decline in AAA, screening programmes are still good value. They also provide a safety net for those who have siblings with AAA, but who, for whatever reason, are unaware of their family history. Any concerns a doctor in the UK may have about potential obligations for extended disclosure will be mitigated by the screening programme.
One can imagine that in the small print of any future negotiations for Irish unity, those living in the north would insist that their AAA screening programme persists in a 32-county Ireland. Should Irish citizens south of the border have to wait for national unity to be afforded the protection that AAA screening programmes confer to their neighbours? I would suggest they should not.
It is hard to fathom why a national programme for AAA screening does not exist in Ireland. The national screening advisory committee (NSAC) advises the Minister for Health and the Department on all new proposals for population-based screening programmes. Their criteria for appraising conditions being considered for screening looks like it was written specifically for AAA. Even though AAA is a killer, it is not a malignant condition and predominantly affects older men. The NSAC appears to have little or no representation from those working primarily in cardiovascular diseases.
None of this helps. Perhaps the blame lies with us in vascular surgery for not pushing harder.
Irish doctors have to be aware of legal decisions made in other jurisdictions. First world nations tend to evolve in the same direction. It may be a stretch to suggest that extended disclosure will soon include an obligation to find and counsel the siblings of AAA patients; however, the law rarely turns around and heads back in the direction from which it came. The case for screening for AAA in Ireland stands on its own merits, but the prospect of an impending legal obligation could and should push it over the line.
Mr Greg Fulton is a Consultant Vascular Surgeon at Cork University Hospital and Bon Secours, Cork.
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