In the consultation it becomes apparent that the mother (also one of your patients) has some type of movement disorder. Her gait is very unusual and she makes numerous abnormal, involuntary movements sitting in the chair. There is a family history of Huntington's disease in the mother's family; her mother died several years ago and genetic testing had been offered then but declined by this patient. You would like to discuss the likely diagnosis of Huntington's, but are not sure which course of action to take. When you asked her if there were any problems with her health she denied any.
What would be the best course of action?
A GP's view - Dr Barney Tinsley is a GP partner in Harrogate
It is, thankfully, a rare consultation when a GP is more concerned about the individual accompanying the patient, than the actual patient themselves.
In this situation, care must be taken not to lose sight of taking a thorough history, examining and treating the daughter appropriately as her signs and symptoms dictate.
Her mum is likely to be worried about her and additional time spent in reassurance and safety-netting is rarely wasted.
However, the GP's attention will be drawn towards the involuntary 'tics', gait and worrying family history of the mother during this consultation.
It could be said that it is inappropriate to discuss her own symptoms during her daughter's appointment, although I would imagine there are very few GPs who would let her leave without having some sort of contingency plan in place.
In this scenario, the mother denies any problems with her health. The mother may be frightened, both at the implications for her own health and the effect this would have on her family.
If she is reluctant to discuss her own health issues during that consultation, my next step would be to write to her.
I would explain that I was concerned having noticed the involuntary movements and unusual gait and I would invite her in for an appointment.
I would suggest she books a double appointment so there is plenty of time, and explain that I am happy for her to bring someone with her if she likes.
Having sent this letter, I would follow it up with a phone call if I did not hear from her. Ideally, the patient would book in to see me.
We could then discuss a neurology referral, screening for depression and the possible genetic implications.
If the patient decides not to attend, despite having received both letter and phone call, her autonomy and confidentiality should be respected.
Personally, I would probably write again, with information about Huntington's disease, voluntary support networks and helplines, reiterating an 'open door' policy for this patient to discuss concerns with any of the GPs at any time.
A medico-legal opinion - Dr Marika Davies is a medico-legal adviser for the Medical Protection Society
This is a sensitive situation and one that is difficult to ignore given your knowledge of this patient's family history.
Having seen her mother die with Huntington's disease, it is likely that your patient is aware of the significance of the symptoms she has developed.
She has previously declined genetic testing and, as a competent adult, this refusal should be respected.
However, she may not be aware that medications may now exist which could relieve some of her symptoms and improve her quality of life.
It would be reasonable to gently raise with her that you have noticed the movements and to suggest there may be help available, but you should be sensitive to the fact that she may not wish to acknowledge or discuss her condition and you should respect this.
It is important that she knows she can come back to discuss matters with you when she is ready, and you should document your discussions carefully.
The welfare of the child must also be considered. The possibility that her daughter may also have inherited the condition may be a way of engaging with the mother.
The risk of depression is also important, as this may affect her ability to care for her child. Ultimately, the child's best interests are paramount, and if the mother's condition was to put the child at risk, then information may need to be disclosed to others.
Although not immediately relevant, disclosure of information about the diagnosis to her daughter may also need to be considered in due course.
Recent GMC guidance states that where a patient refuses to consent to the disclosure of genetic information that would benefit others, disclosure might still be justified in the public interest to protect others from harm.
A patient's view - Ailsa Donnelly is a member of the RCGP Patient Partnership Group
The onus for further discussion must be on the mother.
Referring the patient to a neurologist may confirm the diagnosis but this may only further distress the patient if this diagnosis is made before she is ready.
If she is affected, it will soon become apparent to her family and friends who will be better placed than any GP to encourage her to seek help.
I understand the GP's desire to 'do something' but it is not the GP's responsibility to force a diagnosis on the patient.
The likelihood is that if the patient's husband, for example, is aware of the possible diagnosis he may contact the GP and they can discuss the best way forward.
The only possible reason for talking to the husband before discussing it with the patient is if there is concern over the safety of the child.
A diagnosis of depression associated with Huntington's disease can be premature - does depression associated with Huntington's come before or after confirmation of the disease?
The GP could flag the patient's file so that she will be given priority for an appointment with her preferred GP.
The GP could also ensure there is a stock of appropriate literature on Huntington's disease for patients and families, including contact details of support groups.