TV Review: Horizon - Miracle Cure? A Decade of the Human Genome

During the early, uncertain years of the Human Genome Project, Professor Bryan Clarke of the University of Nottingham kept challenging all Human Genome Organisation (HUGO) aficionados to explain how the new biological knowledge obtained would lead to medical advances. Bryan also kept asking - 'whose genome is being sequenced anyway'?

From those times, almost daily, those of us managing families with genetic disorders were put on the spot; everyone wanted to know how soon the Project would benefit affected people. Probably, most doctors and scientists were optimistic when dealing with affected families but more cautious in the media, especially the medical journals. I consider now that differences in emphasis (or optimism/pessimism), when we speak with patients and families on the one hand and with doctors or medical scientists on the other, are unjustified.

BBC Two's Horizon programme (Miracle Cure: A Decade of the Human Genome) aired on Monday 25 October 2010 set out to discover what benefits have occurred in the decade after the first human genome sequence was discovered. To illustrate this, three people - two had single gene conditions (cystic fibrosis and inherited, BRCA1, breast cancer), the third suffered from a putatively multifactorial, genetically heterogeneous, disorder (alcohol addiction) - became journalists, visiting several genome research centres in the UK asking questions relevant to their own disorder. They then made shrewd comments and systematic summaries.

All three participants were highly articulate and accomplished. In particular, their questions drew extremely clear explanations of complex ideas from their scientific interviewees and (in my view) honest answers to the 'how long will it be?' questions. The emotional impact on the affected trio of some answers (about how and when) led viewers like me to shed tears of empathy. However, those emotional bits were included, not as shroud-waving but to illustrate life as it is for some unlucky folks and their families as they become caught up in the uncertain, often conflicting, roller coasters of illness and research.

Sophie, a young woman with cystic fibrosis (CF), successfully combines her work, as a committed teacher, with several hours daily of managing CF. No concessions to ill-health for Sophie; she has to stay fit! She is introduced to Rees, a nine-year-old, who as a baby had gene therapy for an immune deficiency disorder. Sophie asks why this is not yet available for CF. My thoughts wandered to the lottery of nature/research which leads to one gene being mastered before another and to the intellectual errors of jumping from the particular to the general.

Emma, a feisty woman from the North East, had bilateral mastectomies for cancer, followed by a further procedure for another cancer in residual breast tissue. We should learn from our patients; I wondered whether the consultant who told Emma that her further disease was 'literally a one in a million chance and that she was very unlucky' watched the programme. If so, I hope that consultant changes the choice of phrase!

Emma's fear now was about future implications for her little boy, Jamie. Emotions erupted (both in Emma and in her interviewee, Professor Michael Stratton) as she grasped that Professor Stratton had said progress was likely within a decade. It was no bad thing for a world class scientist to show his feelings.

Tom, a mega-marathon runner, including the gruelling Marathon des Sables (90 miles across the Sahara desert in five days) believed that his alcohol dependence was caused by his genes. This idea was fostered by certain websites (e.g. '23andMe - genetics just got personal'). Tom visits a research laboratory where systematic single nucleotide changes are made in mice genomes. He meets an alco-mouse, with an 85 percent tendency to drink ten percent alcohol, rather than pure water. Tom's emotion flashes in as he begins 'to understand more in 15 minutes of seeing and hearing about that mouse than in 15 years of searching for answers to my alcoholism'. Some of it is genetically determined.

Tom had his genome scanned (costing at least £300, I estimate) to search for the causative genetic mistake of alcoholism. Tom then visits Professor Peter Donnelly in Oxford to have the findings interpreted. Professor Donnelly's expressive body language as Tom summarises the irrelevance of his genome scan is as impressive as is Tom's clarity ('I'm no further down the line!').

In parts of the documentary there are new, active cartoons to illustrate ideas and methods (e.g. the strategy of gene therapies or gene chip methods). These are of exceptional value as is Kelly Hunter's background spoken narrative, linking the story of three very different disorders with the sequencing of the human genome. Overall, this programme found a perfect approach to thinking from the specific to the general, and to the challenge of illustrating general principles by means of anecdotes. This programme succeeded. Having watched it several times I believe that considerable headway has been made towards furthering public understanding of a complex rapidly evolving medical field.

All the participants and the BBC are to be congratulated. We can now see that for the genomics era, as with the early period of the Second World War - 'this is not the end. It is not even the beginning of the end. But it is, perhaps, the end of the beginning' (Winston Churchill, November 1942).