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TV Review: Genetics and Medicine

24 January 2011
Appeared in BioNews 592

Genetics and Medicine

Teachers TV, June 2010

Produced by the Nowgen Centre and supported by the Wellcome Trust

'Genetics and Medicine', Teachers TV, June 2010 (produced by the Nowgen Centre and supported by the Wellcome Trust)

In June 2010, Teachers.TV issued a series of five videos on 'Genetics and Medicine' (1), covering important elements of genetics aimed at school students between the age of 14 and 16 (2)

In the six decades since the first satisfactory description of the human DNA structure (and correction of the human chromosome count to 23 pairs) progress in genetic understanding has burgeoned inexorably (3). Often, the drivers for the forward leaps of knowledge were improvements in the laboratory technologies.

Yet, in parallel with the new laboratory findings (indeed often preceding them!) there was steady but less dramatic progress in medical genetics (4). My view, then and now, was that scientists and the media lauded progress in laboratory research, whilst ignoring the equal or greater importance of clinical studies, of the wider family and of the community. Laboratory and clinical research in genetics are interdependent and complementary; they cannot be taught in isolation.

School genetic teaching, therefore, started with DNA and molecules; only later were the patient and family given (usually) sparse mention. For example, the earlier Teachers.TV programme on 'Genetic Engineering' was launched in June 2007 and (with an otherwise excellent instructional approach) for the most part covered DNA technology, cloning (Dolly the sheep) leaving around three minutes for the medical implications of the Human Genome Project and (er) less than two minutes on ethical issues.

This genetics and medicine series starts with real people with important disorders. In the first video a woman with a devastating family history of cardiac deaths introduced her own story, leading to the need for an implantable defibrillator for her and her teenage son. The condition, long QT syndrome, is due to potassium channel defects which affect heart muscle depolarisation. The laboratory steps to find out which of at least four genes was involved were covered next (there are now more than 10 genes implicated!). Then we turned to the clinical story of a family with severe eczema - vividly illustrated. The steps in research (5) to find the causes and risk factors were then summarised.

The second programme focussed on breast cancer, using the same format - clear clinical description and family details, preventive options including bilateral mastectomy (in a male as well) followed by the scientific explanations and challenges. As in the first programme, I was impressed with the teaching qualities of articulate, affected teenagers. The choices they faced and their clear summaries of the nature of their problems had as much educational value as the professional explanations. The family affected here by a rare cause of early onset breast cancer (not BRCA1 or 2) were also delightful in other ways, not least their positive drive and optimism when faced with impossible dilemmas and much sadness.

The three programmes on genomics and health consisted of round table discussions with a (science-orientated) professor of genetics, a bioethicist, and two senior clinical professors - both involved with active patient care as well as clinical genetic research. The chairman was a senior lecturer in science education. If anyone stepped away from real facts, the clinical experts brought them down to earth. Vice versa, clinical anecdotes were only used to illustrate the elements of personal choice.

School students might find this format, of debate between experts, less exciting than the personal stories of the first two programmes, but teachers could use the material provided to establish core class discussions, for example about personal privacy versus wrongful use of genetic testing.

Let me say that this series is excellent, well-balanced and up to date; it should inspire young people to study genetics more fully, either as a general interest or as a future career. I wish I were 50 years younger!

Teachers.TV, their production team from Glasshead production company, the Nowgen centre for genetics in healthcare (a partnership of the Central Manchester University Hospitals NHS Foundation Trust and The University of Manchester) and the Wellcome Trust who provided sponsorship should all be congratulated.

1) Teachers.TV
|  18 March 2018
2) Three of these programmes lasted about 14 minutes each (Genes and Disease, Breast Cancer in the Family and a general discussion of Genetics, Society and Health); the two others are much shorter at around four minutes (Genomics, Personality and Health and Genomics, Decision-making and Risk).
3) Such advances include the cytogenetic changes in specific chromosomal disorders, cell culture techniques which modelled diseases of biochemical pathways, elucidation of those pathways, recombinant DNA technology, the first gene sequencing, molecular genetic diagnosis, etc.
4) For example, more precise family tree interpretations, systematic descriptions of specific syndromes with careful measurement of key signs and sub-classification of generic disease groups (like breast cancer or epilepsy), as well as better clinical management leading to longer survival and long-term follow-up studies which then clarified the natural history.
5) Case control studies, filaggrin gene identification, genome wide association studies (GWAS), etc.
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