Research shows that the needs of adults with long-term genetic conditions go unmet despite high levels of clinical need.
‘These are a common overlooked group. Many genetic diseases can be managed in primary care,’ said Dr Paul Brennan, consultant in clinical genetics at the Northern Genetics Service.
Addressing the launch meeting of the Primary Care Genetics Society in London last week, Dr Brennan said that predicted life expectancy for adults with Down’s syndrome is now 60 years. The number of over-50s with the syndrome is expected to triple between 1990 and 2010.
He said that GPs and practice nurses have the basic skills to develop care pathways for adults with ‘this common, simple disease’.
A recent survey of adults with Down’s syndrome in Newcastle and Gateshead revealed a high prevalence of medical complications (see box).
‘No patient had had echocardiography in the absence of established heart disease.
None of these patients had received prophylactic antibiotics for endocarditis in potential risk situations.
Hypothyroid function was not being checked in a large proportion and those diagnosed with depression were not being screened for a hearing loss,’ Dr Brennan said.
‘Whose role is it to coordinate the ongoing medical surveillance? Any child with a learning disability who hits adult care hits a brick wall. Patients say they can’t get their GP interested. This is one group of people who need to be looked after carefully. It’s a big problem and it’s going to get bigger.’
He suggested that primary care has a role in the management of genetic disease. This is to be: to recognise and signpost patients, be aware of the family history and accurately diagnose genetic disorders such as familial hypercholesterolaemia and haemochromatosis.
GPs can also treat familial hypercholesterolaemia; become involved in the health surveillance of patients with common genetic disorders; and meet patients’ psychological needs.
‘Will someone take responsibility for the psychosocial support?’ Dr Brennan asked.
‘For many years clinical genetics has been seen as a tertiary care specialty. It should now be possible to start to break down genetic medicine into different care pathways.’