The diagnosis and referral of rare diseases pose a significant medico-legal risk for all doctors, a defence body has warned.
The MDDUS warns that doctors need to take steps to minimise their chances of missing a rare disease.
The Chief Medical Officer’s Annual Report in 2009 stated that two in five people with a rare disease have reported difficulty in getting a correct diagnosis and accessing the right services and support for themselves and their families.
Recent figures revealed that inefficiencies in treating people with a rare disease are estimated to cost the NHS over £9million every year.
Dr John Holden, a senior medical adviser at MDDUS, said: “In order to minimise the risk of overlooking a rare diagnosis it is important to assess patients carefully by means of a full history, an examination and by providing or arranging advice, investigations or treatment and by referring to a specialist when the doctor considers that this would be in the patient’s best interests.”
Professor Sir Liam Donaldson listed the diagnosis of rare diseases among five key areas of public health. A disease is classed as ‘rare’ when it affects fewer than five in every 10,000 people. But given that there are more than 6,000 rare diseases, it means that one person in every 17 will present with a rare disease - around 3 million people in England.
MDDUS advises that to avoid potential difficulties in all patient consultations doctors should follow GMC guidance which stresses the importance of recognising and working within your competence, respecting a patient’s right to seek a second opinion and seeking the advice of colleagues when appropriate.
Holden said: “Clear contemporaneous records should also be kept of all discussions and actions relating to a patient’s care.
“Primarily this will aid the care of the patient, and enhance the transfer of information between health professionals, especially if a patient moves away and registers with another GP. Good records are also invaluable should a complaint or claim arise as the result of a delay in diagnosis.”
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