Introductory
Note
by
Professor Martin Bobrow
ge·net·ics (jə-nĕt'ĭks) n.
1. (used with a sing. verb) The branch of biology that deals with heredity, especially the mechanisms of hereditary transmission and the variation of inherited characteristics among similar or related organisms.2. (used with a pl. verb) The genetic constitution of an individual, group, or class.
from answers.com
Genetics is only one of many branches of biology, a set of methods and approaches for understanding how living organisms pass on characteristics between generations. Why are we holding a meeting to discuss its past, its future and the implications for society? We do not often hear of comparable sessions pondering the policy implications of cell biology, or electron microscopy, or mass spectrometry. What is it about “genetics” that has brought it into the limelight? I consider it important that we start by trying to understand why this particular branch of science has come to acquire such a prominent public persona, and to examine the extent to which this reputation itself influences policy making, separately from the importance of the underlying issues.To me, as a geneticist, it seems self-evident that public discussion under the rubric “genetics” now encompasses topics well beyond the dictionary definition of the academic discipline. Most strikingly, it includes areas of reproductive biology such as IVF, artificial fertility in older women, and even stem cell research: fascinating topics in their own right, but not what a biologist would normally include in an undergraduate genetics curriculum. The purist in me forces me to point this out, but I no longer believe it is an argument worth having in public.
More fundamentally, the stupendous growth of molecular genetic technology which has given us the ability to analyse and manipulate genetic sequence at the molecular level has transformed all of biological research. Physiologists use genetics to create the molecules which they study in living systems; psychologists attempt to map genes influencing differences in perception and behaviours; people working in agriculture and evolution and forensics have found fantastic new tools in the developments of molecular genetics. In one sense it can be argued that genetics is now THE underpinning biological science, at least for those areas of biology concerned with physico-chemical structure and function, since gene sequence determines protein sequence which is a major determinant of cell, system and whole-organism function. Genetics has in this way become a paradigm for all of modern biology, and so the media and the public are perhaps partly justified in holding “genetics” responsible for all developments – past and future; good and bad – in all areas of modern biology and in all species. Public discussion of genetics is nowadays shorthand for discussion of developments in modern biological research, in all its ramifications from fertility to evolution of race to agricultural application.
In the quarter century since the Human Genome Sequencing Project first captured the public imagination, there has been a massive expansion of genomic knowledge. Essentially complete genome sequences are available for man, most common experimental species such as mouse and fruit fly, many domesticated animal and plant species, and a substantial number of pathogenic organisms. Principles of genomic structure and evolution are emerging. We still however have very incomplete knowledge of the complex switching mechanisms that control when, where and how much gene expression takes place – essential information in understanding genetic function. Indeed, we are in general at only an early stage of beginning to unravel the functions and interactions of the products of all the genes in the genome. This is the work that will take us from having a catalogue of genes, to having an understanding of biological function. There is no reason to think that this critically important information will come from a few mega-projects organised along quasi-industrialised lines. It looks far more likely to be mostly a job for “old-fashioned” science, needing the cumulative efforts of large numbers of relatively small independent teams of scientists developing extremely specialised expertise in narrow areas of research. It will take a very long time.
Most of the major ethical and social issues raised by applications of human genetics, such as those concerning consent, privacy, and the peculiar issues arising from a putatively growing ability to forecast future illness, were identified very early in the development of modern human genetics, although they remain relevant today. Some of the furore surrounding commercialisation of fundamental research findings, epitomised by the arguments over patenting human gene sequences although extending much more broadly than that, were less obvious beforehand. The major policy arguments around GM crops seem to have been almost entirely unanticipated. Current debate around stem cell science seems, to me, to be essentially unchanged in principle from the arguments over abortion law in the 1960’s, although that is probably just a sign of my own advancing age and lack of understanding.
What are the big issues which will predictably continue to surface, in various contexts, in the near and medium term future? The obvious ones include:
• Issues arising from the potential of genetics to predict future health – specific examples could include the “$1000 genome”; the value and purpose of pharmacogenetics; various aspects of the commercialisation of genetic testing and exploitation of vulnerable populations (including the vulnerable rich as well as the poor)
• Reproductive biology expands apace, and merges in some areas with the growth of stem cell science. Issues concerning the definition of precisely when “life” begins for a fertilised egg, and of enhancement or selection of humans for both medical and non-medical traits, will remain with us.
• We have barely scraped the surface of genetic manipulation in agricultural practice (a topic on which I look forward to learning much more). We take huge risks whenever we modify the biological content of our environment, because we consistently underestimate the power of natural selection to rapidly drive species to prominence or extinction, and we seem never really to understand the complexity of species interactions in a wild environment; but does this mean we are permanently paralysed, or can we learn to do better?
• I am personally convinced that we will fairly soon see arguments arising from the use of DNA as an identifier of human beings, not because I have any doubt about the fantastic power and benefit of forensic applications of genetics, but because I am concerned at human fallibility and error rates in the sensible use of truly massive databases.
These individual predictions will inevitably turn out to be wrong, but they give a flavour of issues which are currently obvious. Others with more imagination can add less obvious items to the list. During this workshop we may hopefully learn by looking backwards how to anticipate and react to the future, although we should not expect to foresee precisely where the science will go. It is perhaps too much to hope that we will be able to predict the unexpected; we would do quite well to think through how to react appropriately when the unexpected arrives.