Neurogenetic research: of mice and men … and misunderstanding

Paediatric neurologists are increasingly managing patients with genetically confirmed diagnoses. Most of us are not geneticists, though we do our best to keep up to date. Increasingly, we encounter parents wanting to discuss neurogenetic research findings potentially relevant to their child and of which we were not aware. Use of the internet to obtain health-related information is now the norm. However, it is easy to fall foul of incomplete or inaccurate information sources, leading to false expectations and subsequent distress. As an example, parents may come across results such as the pioneering work from Professor Adrian Bird’s group, in which phenotypic reversibility was demonstrated in a mouse model of Rett syndrome. This exciting preclinical finding has led to much subsequent research and justifiable hope for the future, but at present there is no clinical intervention leading to phenotypic reversal in humans. It can be difficult to manage the expectations of parents who have found videos online, showing dramatic improvements after gene therapy, and who genuinely wonder why this is not being offered for their child. They have to undergo the emotional trauma of the diagnostic process whilst watching their infant develop symptoms. They are desperate to find an effective treatment. In their search they try to make sense, as lay readers, of the underlying pathophysiology and often a bewildering array of preclinical and clinical research studies, press releases, and media reports with varying degrees of hype. There is sometimes a sense that scientific breakthroughs are coming through so thick and fast that anything is possible. But I have also encountered parents who worried that gene therapy for their child was being withheld on economic grounds. Reflecting on my own experiences, I have faced some difficult home truths as to why we might find these situations uncomfortable. First, there is the issue of pride. Even though expert parents increasingly present us with new information, there can be disappointment all round on discovering our lack of omniscience. Secondly, there is a mismatch between what parents want and what we can offer. Whilst good symptomatic management and supportive multidisciplinary team input are essential, they fall short of the mark compared with a cure. Thirdly, we are not immune to the pain that families are experiencing, nor to the plight of these children. John Steinbeck wrote, ‘My whole work drive has been aimed at making people understand each other’. At present it is very hard for parents to understand most research potentially relevant to their children. The solution lies in better communication at multiple levels. There is an onus on researchers, experts, and patient organizations to provide excellent lay explanations, including realistic estimates of current and future clinical relevance. This is time-consuming and not easy, but is vital in the internet age. Once written (or illustrated or filmed), these explanations need to be accessible. Where appropriate there should be lay summaries linked to the original article as well as to websites of patient organizations (see DMCN’s recent Virtual Issue on ‘plain language summaries’). Alongside this, we have a responsibility to help patients and parents through the online maze to reliable sources of information. Internet searching and critical appraisal of information have become essential skills for doctors, along with increased understanding of neurogenetics. These all need to be emphasized in training. The potential for advances in treatment of certain neurogenetic disorders is real and exciting. However, allowing for the usual fate of ‘the best-laid schemes o’ mice an’ men’ (as Robert Burns put it), the balancing act between hope and realism is probably going to be tricky for quite some time. For now, we need to work on communication.