Cover Story: Human Genome mapping milestone?by Anna KrohnNews Weekly
, July 15, 2000
Anna Krohn looks at the moral dilemmas thrown up by the latest genetic breakthrough.
Late in June, a carefully orchestrated, internationally linked media mega-event was hosted by the President of the United States to launch the news that 85% of the first stage in the vast project of creating an atlas of the genetic code of human beings was complete.
This first stage was completed ahead of all the predicted timelines thanks to enormous advances in the computer automation used in the handling of microscopic particles of human DNA and to over 16 laboratories around the world working 24 hours a day.
At this stage some 3.1 billion units of DNA have been sequenced: a process which involves splitting the strands of human genetic material into pieces, identifying its biochemical make-up and locating the units at their correct addresses along each of the 23 chromosomes of our human make-up.
Mr Clinton was eager to convey both the enormous significance of the achievement and the sense that it was the result of a scientific fraternity that existed between the publicly-funded consortia, the Human Genome Project and the network of private companies.
“Without doubt,” declared Clinton, “this is the most important, most wondrous map ever produced by humankind.”
In a scientific enterprise already strong on self-promotion, the general back-slapping of the event made it difficult to find a winner in the hyperbole stakes. The achievement was described as being greater than the landing on the moon, or the splitting of the atom. The Human Genome was variously described as the “Book of Life”, the “Blueprint of Existence” and as the “biological Holy Grail”.
Craig Venter, the brash director of the most competitive rival to the public mappers, Celera Genomics Corporation said: “I can see technology making the wheel obsolete ... But this code will be useful and used as long as humans exist”.
Dr Francis Collins, the Christian director of the US National Human Genome Research Institute, used epic language tinged with some modesty, “It is humbling for me and awe-inspiring to realise that we have caught the first glimpse of our own instruction book, previously known only to God”.
As the fizz of the media event has worn off it is possible to assess the human genome news more soberly. Firstly, the piecing together of the intricate and elusive jigsaw of human genetic data, which has taken over ten years and $2 billion, does hold the promise of a new era in medicine, biology and ultimately, in society.
The ability to read and identify human genetic information offers an extraordinary power to those who possess it.
To obtain a completely traceable genetic blueprint of any person, all that is required is a sample as small a single cell or hair. That sample can yield a wealth of identifying and sensitive information about the person from whom it is collected. At present a genetic sample can be used to test whether the person is affected by one of 60 known genetic causes of disease or disability, it can reveal who that person is related to by blood and it can be used as an highly precise form of fingerprinting. With advances in the mapping of the genome, even more information about human beings will be able to be read and understood.
The recent milestone, however, still looks to most people, more like a neatly arrayed alphabet soup than a recipe book of clear instructions. Scientists have still to work out where the sentences of the instructions, in the form of genes, lie amidst the millions of letters which have been mapped.
Scientists are not yet sure how many human genes there are making up human structure, function or development; some say there are 50,000 others 140,000. At present only 60 genes have been positively linked to illnesses and disorders, but it is suspected that there is a genetic component to a whole universe of health issues: aging, cancer and tumour formation, fertility, immunity and even matters relating to mental health and temperament. At present little is known about how each gene interacts inside a particular individual and in combination with a multitude of environmental and personal factors.
Though still in a raw state, the human genome map suggests a dazzling wish list of benevolent goals to many companies and research teams. Grand plans have been revealed for using the genome map in the designing of tailor-made drugs which can be matched to a individuals genetic make-up, in the discovery of drugs for previously uncured illnesses and in the utilisation of genes themselves to patch-up or replace existing faulty genes in the science of gene therapy.
It is clear that the professional kudos and financial gold mine represented by these applications of Genome map is also huge. One commentator noted that “the next step is a mad rush by companies all over the world to locate every single gene inside the mall, because these genes are the most valuable resource of the 21st Century”.
June’s media launch was a very conscious and much-needed PR project aimed at smoothing over the acrimonious relationship that had developed between the public and private segments of the mapping endeavour.
Craig Venter’s team has been accused of profiteering and grandstanding; the public teams have been charged by the competitive private teams of time-wasting and backwardness; and general charges of immorality and unprofessionalism have been hurled in both directions. Arguments about who owns the precious pieces of genetic information, and how it is possible to profit from and patent DNA pieces or applications have also been raging.
This new joint statement represents an accord of sorts which means that all raw data of the sequencing process, deriving from both the public and private arms of the project are to be publicly released.Genetic selectivity
However, this apparent spirit of open fraternity and democratic availability may not be the lasting effect of the genetic revolution. There no doubt that the most powerful and immediate impact of the sequenced Code is in providing more accurate and varied information which will tag the genetic make-up of individuals with particular illnesses and disabilities. Identification of genetic disorders will far outstrip our ability provide gene-driven cures or alleviation.
Genetic testing can provide people not only with information about hidden or unexplained illnesses they presently “carry” but can also predict their chances of contracting future disorders and diseases. It also indicates the statistical chances of these illnesses being passed on to future generations. It can be used to test whether an unborn child is likely to be affected by a genetically related illness. They are also source of an increasing genetic anxiety within the community.
In the near future information provided by the Genome map may be used by employers to discover or examine the health profiles of employees, contracted staff or potential employees, and to use competitively rational employment strategies accordingly. There is also the prospect of adverse discrimination in education, insurance and health care.
The most widely used tool of genetic selection today, is induced abortion. Families throughout the developed world already practice the most lethal form of genetic discrimination, against their own offspring. An increasing number of abortions, particularly those that are brought about late in pregnancy, are a result of prenatal genetic or diagnostic tests.
The American philosopher, Professor Philip Kitcher, greeted the Genome news with the warning that in 10 to 20 years parents will be able to test a foetus for hundreds of different genes, including those associated with appearance, sporting ability and a whole range of diseases.
A compelling, do-it-yourself form of eugenics then arises. Kitcher predicts: “People will privately decide they must do best for their child and so they must have genetic tests and aim for children who conform to the socially prevailing ideals.”
These problems are not to simply reject the many and great benefits which may arise from the genome mapping project. Much of the information gained will serve genuinely therapeutic goals and increase our understanding of ourselves.
The “bad news” says, C. Ben Mitchell of the Centre for Bioethics and Human Dignity, “is that the science is being done in the context of what amounts to a moral dark age. Despite the advanced state of 21st century science, our moral sensitivities are at a very low ebb”.
The use of technology, good or bad will depend upon our general cultural and ethical ability to discern right from wrong, humane from inhumane
Once the great fear was that a totalitarian regime would use the human genetic information to control and sift the populace according to some monolithic utopian agenda. Hitlers brutal extermination camps were in fact a gargantuan and bloody form of genetic selection.
In reality the jingles of “freedom of choice” and “quality of life” and “self-expression” hold individuals in our society far more in their grip than does any demogogic plan. It is unlikely that a society wedded to such privatised and generally libertarian sentiments will offer any effective challenge to the notion that scientific progress and genetic improvement are wholly benevolent and unquestionably progressive. What is needed is an ethical framework which both defends the good that science can contribute to society while keeping it answerable to norms and which defend and reveal what is most fully human.
Writer and science observer Brian Appleyard bluntly observed:
“This is why the optimism of so many science writers rings so hollow and why libertarian free marketeers sound so shallow on the subject of science.
“One after another they assume that, somehow we or the market — will do the right thing. But they do not realise that their definition of the right thing is derived from a complex cultural legacy of which science is only a small part. They assume this legacy is intact to guide us, while in the same breath they celebrate its extermination by the ideology of scientism.”