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Genetics and ethics: Do doctors have a duty of care to a patient’s relatives?
Dr Chris Hogan writes for newsGP about the ethics of informing a patient’s family members of a heritable disease.
Continuing advances in genomic medicine could lead to GPs having to consider the question of informing a patient’s blood relatives of a heritable disease diagnosis.
In clinical medicine, it has always been good practise to take a family history.
In a private consultation, where doctor–patient confidentiality applies, patients often reveal details about their relatives without the specific permission of that relative.
This has been common practise because of the significance of this information to the patient, since a shared genetic legacy may suggest a medical issue. Doctors also assume that permission is implicitly given by the relative, given the importance of the information for a patient’s health.
But what happens if we make the first diagnosis in a family, one that will affect not only the patient sitting in our consultation rooms, but their blood relatives and any living or future children?
There are heritable components to many diseases – heart disease, diabetes, many cancers, coagulopathies, coeliac disease, thalassaemia, Huntington’s disease, Marfan syndrome and familial polyposis, to name a few.
In short, these diagnoses immediately place a GP in a difficult situation. Are we obliged to inform the patient’s relatives?
In the past, it was very common to not consider the implications of heritability to anyone other than the patient in front of us. Now, of course, advances in genetics and genomics mean that there is a much greater public awareness of heritable diseases.
So what can we do?
Doctors have three options:
- Do nothing – the patient in front of you is your only concern, and you have no responsibility to anyone else.
- Ask – ask the patient to inform their relatives.
- Provide information – give the patient written information on the condition, including advice to inform their relatives.
I believe every doctor worthy of the title would encourage their patient to tell their at-risk relatives rather than do nothing.
If the patient informs their relatives, your job is done. But what happens if the patient refuses?
Under current regulations we can do nothing more; however, I believe we need to seek a legal mechanism to make it possible for doctors to communicate knowledge of genetic risk directly to relatives.
When people other than an individual patient are at risk, and where ethical debates fail to reach a conclusion, the law should step in.
But why? Do we owe a duty of care to a stranger, to anyone other than the patient?
The reflex answer would be no. But let’s dig a little deeper.
Consider the implications of resuscitating a stranger. The RACGP and all other organisations on the Australian Resuscitation Council have decided their members should be obliged to learn cardiopulmonary resuscitation (CPR). This brings with it the implicit expectation that if a member trained in CPR witnesses someone collapsing with a cardiac arrest, that person should be resuscitated if it is safe to do so. These responder cannot ask for informed consent, they act.
Or consider the scenario of seeing a stranger on the street and recognising that they likely have a significant medical condition of which they might be unaware. It might be a complex endocrine condition such as Cushing’s syndrome, acromegaly or Grave’s disease, or even a neurological condition. Comedian Billy Connolly was told he had Parkinson’s disease by an
Australian doctor who happened to see him in a hotel lobby.
In these scenarios, we are in an unequal position – we have more medical knowledge than the passing stranger, and we have used that to recognise a condition that will cause more problems the longer it is left untreated.
Like the person who had a cardiac arrest, a person in this scenario may not ask for help, but they most certainly need it and will benefit from it. It is reminiscent of the principle of noblesse oblige, the social responsibility of those with more advanced knowledge or other resources to help other members of society.
I would argue that doctors owe a duty of care to act when people other than their patient are at risk from information the patient has disclosed. The patient has the right to accept or reject our advice unless it impacts on other people.
There are already well-established examples when we are obliged to override the patient’s wishes, such as issues around serious mental health conditions, criminal law, and fitness to control a vehicle, vessel or plane.
We must act if the patient is a risk to themselves or to others due to their mental health. We must act if we are aware a serious crime against persons is likely to occur. We are subject to mandatory reporting legislation if a child is at risk. And if we are aware that a person wishes to drive a vehicle while significantly impaired (within established parameters), we are ethically required to report them to the appropriate licencing authorities – and protected by law in this action.
In law, where a duty of care has been established, there is the concept of ‘wilful blindness’ – noting something that could potentially cause harm, but deliberately ignoring it. This concept can be used to argue a breach in a duty of care in the legal context of negligence.
As argued in a recent
Australian Family Physician article, ‘You should get that mole checked out: Ethical and legal considerations of the unsolicited clinical opinion’, while doctors may not have legal obligations to give their opinion on, say, a suspicious mole, ethics is another matter.
‘While doctors may not have a legal obligation to proffer an unsolicited opinion in the case of suspected melanoma outside the clinical setting, they may have an ethical responsibility to do so,’ they write. ‘The degree to which the GP is ethically obligated to provide an unsolicited dermatological opinion is affected by numerous and, oftentimes, competing factors.
‘As with all decision making, there are potential risks and benefits that require careful consideration.’
If you accept the argument that doctors should make every effort to communicate information about heritable diseases to relatives who are likely to be affected, what next?
One option might be to mandate reporting of notifiable heritable diseases to a health register. This would not be a major jump; we already have notifiable infectious diseases, and every state and territory has its own
cancer registry.
A notifiable heritable disease register would, like the cancer registries, have highly regulated access to ensure as much privacy as possible.
And while a few people might be uncomfortable, I would argue that the benefits to the many would outweigh the concerns of the few.
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