It has been widely reported this week that the prevalence of Huntington’s disease has been ‘massively underestimated and is more than double the current estimates’ (see BMJ for more details ). This indicates that prevalence is around at least 12-14 per 100,000 population. Stigmatisation and fear of financial penalties such as through insurance, are thought to be key factors in the underestimate, as people conceal their condition. The stigma attaches to those at risk of the disease as well as those with symptoms; children of a parent with Huntington’s are also at 50% risk of developing the disease.
One of the issues this raises is the need for greater awareness among health professionals, to ensure that families with or at risk of this condition, have access to the support they need. Part of the problem here is that HD still remains a rare disease (a rare disease is a condition which affects less than 5 in 10,000 people) and so may be dismissed by many health professionals as something they are unlikely to encounter. However, as Rare Disease UK points out:
• There are over 6000 rare diseases affecting over 3.5 million people (1 in 17) in the UK. • Collectively, rare diseases are not rare. • NHS services to support people with rare diseases remain patchy and poorly integrated, meaning that individuals with rare diseases in the UK and their families struggle to access the help and support that they need.
Genomic medicine undoubtedly has great potential for improving outcomes for people with commoner conditions such as cardiovascular disease and cancer and the focus on the genetic components of such common diseases is understandable and important. But let’s not forget that other substantial sub-section of the population who have, or are at risk of, rare conditions. They also need appropriate provision of services by educated health professionals.