The Human Genome Project

The ethics and impact on behaviour of knowledge about one's own genome

Mairi Levitt, research fellow. 

Centre for Professional Ethics, University of Central Lancashire, Preston PR1 2HE

m.a.levitt{at}uclan.ac.uk

"People need to know about their genes and be aware of diseases that may occur"; "the more information available the more informed choices are." These positive comments on the value of genetic testing came from two visitors to a drop-in "gene shop" which gave information about genetics at Manchester airport, funded as part of the Euroscreen 2 project with staff from the Royal Manchester Children's Hospital Trust.¹ They were typical of the visitors who were enthusiastic about testing for themselves and their partners. The Genetic Interest Group, many of whose members come from families affected by genetic disorders, is similarly enthusiastic arguing that "genetic services offer people the potential to acquire information about their genetic make up [which] although it might be bad news, at least allows them to plan out their lives and make informed reproductive decisions."² For those who are aware that they are at risk, a genetic test for a specific disorder may well be empoweringit will provide either reassurance or confirmation of that risk. But what would knowledge of their own genetic make up mean for the general population?

The attraction of genetic testing for the health service is the ability to predict; as the Advisory Council on Genetic Testing put it, to "foretell the future with scientific confidence."³ The possibilities of preventing the onset of a genetic disease and of developing drugs tailored to the individual's genome are promising; at the moment, though, the ability to detect a disorder is outstripping the development of effective treatment. The problems of making a diagnosis, in a currently healthy person, of high risk for a disease that cannot be prevented and may even be untreatable are recognised in the present system. Information, counselling, and support are offered before the individual can decide to be tested, and uptake has been lower than anticipated. For example, only 10-15% of people at risk of Huntington's disease have sought testing, which has been available since 1987. Before testing was offered, most family members at risk had said they would want to be tested. ^{4 5} It is unlikely that the present support system would, or could, be maintained once testing for more disorders becomes routine. Individuals may find out about their own genome without recourse to the health service by commercial testing bought over the counter, by mail order, or via the internet. Although guidelines have been issued by the Advisory Council on Genetic Testing, there are no enforceable controls over who is using the test or for what purpose.³ For instance, parents may test their children for cystic fibrosis or pregnant women test themselves. The Genetic Interest Group has said that the UK Clinical Genetics Society's report on testing children was "overly preoccupied with psychological considerations, and the harm that knowledge of genetic disorders can cause within families."⁶ However, parents with a family history of a disorder are in a different position from people who might seek testing for themselves or a child "just to make sure everything is all right" without detailed knowledge of what a positive test result would mean.

(Credit: TIM YEN) View larger version (58K): [in this window] [in a new window]   Hela cell

(Credit: GORDON CHAN PHD/TIM YEN) View larger version (40K): [in this window] [in a new window]   Cell where chromosome segregation is disrupted

At risk status
One area of knowledge that people will gain from genetic testing is of risk factors for common multifactorial diseases. The public is already aware of risk factors for, say, coronary heart disease, which might include their family history, but genetic information pinpoints individual rather than group risk and tends to be seen as particularly accurate and determining.⁷ In practice, the more tests the individual undergoes the more likely it is that some results will be false negatives or false positives. For example, if five tests are given, each of which produces results that are 90% accurate, the probability that they will all give accurate results is just below 60%.⁸

Demand and access
These examples are of programmes testing for one specific condition, but what about the impact of knowledge of risk factors for a range of different kinds of disorder? The health service will have to cope with the demands of a public that has received different kinds of genetic information.¹³ Patients may have been tested positively for carrier status for a recessive condition or have risk figures for susceptibility to certain forms of cancer and negative results for some single gene disorders. Whether individuals have bought tests for themselves or been tested through the health service they will require information, advice, and follow up treatment, and in the British system patients are likely to go first to their general practitioners.¹³ The ability of individuals to follow health and lifestyle advice will be affected by their financial status and their work and family responsibilities. People who have used commercial over the counter or mail order tests could generate a disproportionate workload for the NHS. Individuals, including children, will present who would not have been tested for the specific condition in the NHS or who would have decided not to be tested if they had received pretest counselling. Even those with favourable results may seek a second opinion from a trusted source. The publicity given to commercial tests, through advertising and media reports, could generate additional demands for the same facilities to be available to all, rather than used only in specific clinical contexts.

(Credit: GORDON CHAN PHD/TIM YEN) View larger version (28K): [in this window] [in a new window]   Normal metaphase cell

Targeting resources
Should resources be devoted to individuals knowing about their own genome, as opposed to targeted testing for specific diseases among people known to be at risk? Critics argue that focusing on individual genetic susceptibilities may detract from programmes to tackle social and environmental factors. These factors affect health, but society lacks the political will to tackle them effectively. Abby Lippman writes: "conditions of society such as poverty, racial bias, gender discrimination and lack of political power are among the well-documented non-genetic risks to health that create 'susceptibilities'. Why not call these factors 'markers' and label them for intervention? Why not seek to change employment, income support, housing and taxation policies ... instead ofor at least in addition tolobbying for 'lifestyle' modifications?"²⁰

	Footnotes

Competing interests: None declared.

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