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Genetics and ethics: Do doctors have a duty of care to a patient’s relatives?


Chris Hogan


24/05/2018 2:10:47 PM

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.
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.



duty-of-care genomic-medicine genomics-guide heritable-diseases



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Penny   25/05/2018 8:47:58 AM

The short answer is no. We are under no obligation, and in fact would be failing our duty of privacy to inform relatives. It's much the same way that we're not allowed to disclose the infectious disease status of a patient to others they may be in contact with.

More pragmatically, if we were to take this step then where would it end exactly? Influenza is a nasty illness and can be deadly. Are we then obliged to contact trace anyone who has come into contact with an index case? Do we phone the workplace to inform them that someone with influenza is attending work despite being unwell?

Let's not of course forget that some of the most deadly heritable diseases are arteriovascular disease and type two diabetes. They kill vastly more people than more obscure causes, and they're much more preventable. If we're going to go on a heritability chasing rampage then surely they are the most low hanging fruit.

Breaking confidentiality is something that must only be done in very specific circumstances, and heritable diseases isn't one of them.


Dr Peter Strickland   25/05/2018 10:26:22 AM

The biggest problem with any genetic testing are the consequences for the patient, and often more so for the close relatives, e.g Huntington chorea. I was threatened by a mother who did not want her son told about his father's early onset Huntington syndrome, and who at 20 yo already had signs he was heading for the same devastation. The other is testing for BRAC 1&2 ---what do you recommend to parents of a 10 yo girl who has a grandmother and mother who carry one or both of these genes and develop cancer---- do we get that child tested, and do we tell her about the possibilities of getting cancer? The result now is that young women are having bilateral mastectomies and oophorectomies, and simply because they know they are a carrier of these genes. Have we gone too far, and do we realise that the 10 yo child's whole life if being set at her tender age with respect to marriage, children and bouts of anxiety/depression, and simply because we did a genetic test on her at 10 years of age?


Catherine   25/05/2018 10:07:19 PM

Chris, there already IS a legal mechanism - with a very strict set of requirements - that can allow for disclosure to a genetic relative if the 'authorising' medical practitioner holds a "reasonable belief that this is necessary to lessen or prevent a serious threat to the life, health or safety of a genetic relative". There was a brief article about the situation in the AFP in 2014
https://www.racgp.org.au/afp/2014/july/genetic-testing-medico-legal-issues/

But for the full requirements (for Australian doctors in private practice) see the NHRMC Guidelines: https://www.nhmrc.gov.au/_files_nhmrc/file/publications/guidelines_under_s95aa_use_of_genetic_information_2014.pdf.

Additionally, with regard to Peter's comment - predictive testing of immature children for adult-onset disorders (including BRCA1/2) isn't something that occurs in Australian practice given the unfavourable risk:benefit ratio. For a longer discussion on this subject, you may wish to read the Human Genetic Society of Australia's guidelines on "Presymptomatic and Predictive Testing in Children and Young Adults" at https://www.hgsa.org.au/documents/item/272

In any case where concerns about genetic testing, interpretation or particularly disclosure arise, I would strongly suggest the GP refer to and/or discuss with their local genetic service (www.genetics.edu.au).


Dr J N Parikh   26/05/2018 6:38:40 PM

This concept can be broadened to taking proper history taking including Family history
I have problem taking full history in new patient when some one says I have no time to discuss any other issues since I do not have time to discuss I just want my prescription or even worse what has my LNMP to do with what I have come for
I have at times done what they want to wind up with the possibility of inadequate medical care and rarely find another doctor for this kind of medial care
A patient may object to giving family history due to lack of consent from them


Chris Hogan   30/05/2018 10:13:35 PM

Catherine, thanks for that. It makes interesting reading & I am happy to see the law apace with technological change for once.
The issue is to determine that the people concerned are actually blood relatives as Informal adoptions & non fathering can occur. If a relevant DNA test is available- it is relatively easy to recommend that a DNA test be performed on a relative without breaking confidence.
If a relevant DNA test is not available & the diagnosis of a heritable condition is made on clinical grounds, that is when a problem occurs.
I distinctly remember a patient (an immigrant to Australia) with a strong family history of familial polyposis who was advised to have regular screening. When she returned to her country of origin on a visit , she was informed by a distant relative ( her parents had died) that the tests were needless as she had been informally adopted. The reason for this was because her parents were aware of their risk of transmitting the disease to any of their biological children & had acted accordingly.


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