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Opinion: Genetic Testing - Issues, Arguments, Ethics and Morality

This article was written in 1998 and has not been edited or revised since then. In light of events in recent years, I think it makes an interesting read. It's easy to assume that the world has changed completely, and yet so much is still the same...

Over recent years, genetic tests have grown in number, accuracy and availability. They have been touted by many as the first step in the dawning of a new age of diagnostic and curative medicine, a step on the road to widespread and effective gene therapy for a large number of conditions. Genetic tests are part of a class of modern science which has raised hope and fear in almost equal measure among the general public. Many of their concerns may be based on a poor understanding of the issues, but some are certainly very valid and ought to be of concern to us all.

A genetic test is defined by the insurance industry as "a laboratory test of a person's genes or chromosomes for abnormalities, defects or deficiencies, including carrier status, that are linked to physical or mental disorders or impairments, or that indicate susceptibility to illness, disease or other disorder, whether physical or mental, which test is a direct test and not an indirect manifestation of genetic disorders"(National Association of Insurance Commissioners (US) 1994), that is to say that the definition excludes tests such as blood sugar tests and cholesterol tests which could indicate an underlying genetic condition.

The scientists, doctors, drug and biotech companies who develop and market these tests claim that they benefit the health of individuals by allowing treatment of genetic diseases before the symptoms become apparent, when it is often too late for any kind of effective treatment to be enacted. Genetic tests should allow individuals and families to make decisions relating to lifestyle, fertility and planning on the basis of a greater understanding of what the future holds for them. They should allow schools and education systems to make special provisions and allowances for children known to be suffering from genetically linked learning difficulties, and for people to make their own healthcare provisions in order to maximise their quality of life.

The reality is often different. Research shows no improvement in prognosis for children diagnosed with pre-symptomatic cystic fibrosis through individual testing or neo-natal screening programmes, even though these children are subjected to long courses of 'preventative' treatments aiming to delay the onset of the disease. The pre-symptomatic treatment of many other genetic diseases is also poorly tested and without evidence of particular effectiveness, as in the case of Fragile-X syndrome screening in some American states. Rather than being accommodated, genetically affected children are often 'classified' by education systems, and taking a genetic test can reduce your chances of employment or any kind of insurance. Rather than improving one's quality of life, taking a genetic test can often be the start of a string of closed doors.

The prospect of genetic testing raises a huge number of medical issues, not to mention the moral, ethical, and religious dilemmas inherent in such a proposition. One of the fundamental objections to genetic testing is that in constitutes an unacceptable degree of interference with Mother Nature. Some faiths spell out God's will in church doctrine. The Roman Catholic Church condemns genetic engineering that would determine any characteristic of an embryo, as well as artificial insemination. It is possible to argue that the right of self-determination is paramount and that no church has should have any authority to come between an individual and his or her health, but that doesn't remove the underlying sense of malaise that many of us have regarding this type of technology.

Religious and ethical concerns are most strongly relevant as regards genetic testing of embryos, foetuses, new-borns and children, because none have any ability to consent to the test or have any say in what decisions are made, based on the results of such a test. In couples where one is positive for an autosomal or sex-linked dominant disease allele, or both are carriers of, for example, the cystic fibrosis gene, it is possible for fertilisation to be carried out in-vitro. As the embryo begins to divide, a cell can be removed and tested for the disease, before an embryo free of the disease is implanted. As well as being exclusive on the grounds of cost, this procedure, despite its obvious advantages, raises the spectre of designer embryos becoming available to those that can afford them. Besides, does the discarding of embryos at this stage in the process qualify as abortion?

One of the most common genetic tests carried out today is the amnio-syntesis test for Down's Syndrome. Embryos that test positive are frequently aborted. As the range of genetic illnesses it is possible to test for at this stage increases, and as it becomes potentially possible to test for 'conditions' where the strength of the genetic link becomes a week predisposition, would society sanction the abortion of foetuses predisposed to violence? criminality? anti-social behaviour? low IQ? homosexuality? The possibilities are theoretically endless, and the right to self-determination implicit in nearly all Western societies means that the sanction of society in such matters would almost be an irrelevance. The only thing that could stand between the parents and their right to an abortion in these cases would be legislation, and how many of us would willingly consent to such a level of interference by the State in our health, and the decisions that we make regarding it and that of our families?

Neo-natal screening programmes for such diseases as cystic fibrosis, which take place in some countries though not the UK, are frequently of dubious use. Pre-symptomatic treatment of cystic fibrosis yields little in the way of results, but does cast a shadow over that part of an affected child's life before they begin to suffer the debilitating symptoms of the disease itself. On the other hand, screening at birth for some digestive disorders can allow accommodation to be made for special dietary requirements before severe physical and mental damage is done to the infant. Screening for haemophilia at this stage can yield considerable advantages to the new-born, as can testing for sudden death syndromes, where drug treatment and cardiac monitoring drastically reduce the probability of death.

Screening can also take place in the school environment, particularly for learning disabilities such as fragile-X syndrome. This kind of screening is particularly difficult to justify in terms of the child's health, as no treatment is available for this condition that has any kind of empirical validation, and frequently the symptoms are too mild to justify remedial teaching. The only result is that frequently the child feels marginalised, and the expectations that he or she has of him- or herself fall in relation to those that others have of them. I experienced something similar to this when a friend of mine was diagnosed as having mild dyslexia in the last year of primary school. This dyslexia essentially translated itself as nothing more severe than scrappy spelling and the odd inversion of letters or numbers, but the diagnosis gave her an excuse not to keep trying, and her teachers seemed happy to accept this. At the end of the day, she gained very little except a label from the whole experience.

Screening programmes like this often also have some kind of ulterior motive. Frequently they are funded by the biotech company manufacturing the test kits in the hope that screening will become established and a paying market for their test will grow. Alternately, they are encouraged by the drug company who make the most widely used therapy, regardless of proven benefit to the patient. Entire, well accepted screening programmes can arise which offer meagre benefit to the recipient and rather greater advantages to someone's bank balance.

Outside screening programmes such as these, children can sometimes be tested at the behest of their parents for genetic defects that their parents wish to rule out or believe they may be carrying. Problems arise because such testing can sometimes oppose the best interests of the child to those of the family. Parents could have a number of reasons for wishing their children to be tested for a variety of diseases and predispositions, not the least of which is their wish, which they believe to be in the child's best interests, to raise the affected child in a way that will best allow it to adapt to it's situation. This is not always so. A child tested, and found to be carrying some kind of genetic defect, whether it is life-shortening or not, may find that other's expectations of what he or she will try to achieve in life may be altered. They may, for example, be discouraged from trying to pursue study to university level because it is not felt that they will gain sufficient advantage from it, regardless of whether it is a goal they would otherwise have set out to achieve. On the opposite side, parents may refuse to have their children tested for genetic defects, even though such a test may be in their child's best interests, because they are afraid that the test may be positive, including one or both of them by implication.

Children are often not deemed competent to make decisions, such as whether to be tested for a genetic defect, on their own, with their desires frequently being subjugated to those of their parents. It is assumed that parents will always have the best interests of their children at heart when making such decisions. Their motives may, however, occasionally be mixed. Parents may wish to have one child tested for a late-onset disease such as Huntingdon's Chorea in order to make decisions about future children. Children may suffer adverse consequences from having been found to be carrying a genetic defect, especially if the particular defect is found in early childhood and would not appear until later adulthood. Children may suffer a loss of self-esteem at a stage in their lives when their personalities are developing, which may cause them lasting harm in the years that follow. If they come from families where other siblings are affected by a given disease, the discovery that they are unaffected may do more harm than the assumption that it would have replaced that they were carriers. They would possibly feel guilty that others close to them were suffering and they were not. It is also possible that an affected child could be overprotected and overindulged by parents, often at a cost to other siblings, who could come to resent the affected child, causing a breakdown in family relationships. DNA testing may also have unexpected results, such as throwing up information on paternity that someone may have hoped would remain concealed.

Some benefits may ensue from either a negative or a positive test. A child, or indeed an adult, testing negative for a disease that they were believed to be a high risk of developing, will be saved the inconvenience and frequently the discomfort of frequent surveillance procedures. A positive test can lead to better treatment and a better understanding of the prognosis from the patient's point of view. It can also reduce the anxiety of not knowing whether or not a problem exists. Research has shown that among patients tested for a variety of genetic diseases, there was a marked reduction in levels of anxiety among not only those who tested negative, but also those who tested positive. The group that showed no change in their anxiety levels were those whose results were inconclusive.

Genetic testing for adult-onset diseases provokes some of the most difficult issues. One member of a family testing positive for Parkinson's or for a predisposition to develop breast cancer has implications for the rest of the family, who may not wish to know their genetic status. A relatively young individual testing positive for the Parkinson's gene has inadvertently revealed that one of his or her parents will also develop the disease, that each of his or her children has a 50% chance of being affected, as do each of his or her siblings. Parents having children tested may request for that reason that the results be disclosed to no one but themselves, including the patient, who will be informed at age 18 of the existence of results. Such a process is dubious in the extreme, especially from the point of view of the child.

Under US law, a healthcare worker has the right to disclose the results of an AIDS test to spouses and partners of the affected person, and yet a new law passed in many US States and on its way through the legislature of many others gives genetic tests a higher degree of protection, banning their revelation to anyone other than the patient and other named individuals, in other words protecting the patient from intrusion and breach of privacy, but also preventing people with a direct involvement, genetically speaking, from gaining access to results which rightfully concern them. It is also very difficult to justify affording a higher degree of protection to genetic tests from insurers and employers than to other tests, particularly such significant ones, to the individual, as the HIV test.

Some of the greatest controversies arise where genetic testing and insurance overlap. Insurers see genetic tests as a great potential improvement in their risk-assessment methods, while people who have tested positive for a genetic condition complain that they have been denied comprehensive health insurance, life assurance, and even car insurance as a result of their status.

Although I do not believe there could ever be any justification for insurance companies demanding that potential customers undertake genetic tests before they can be considered - a proposition not being ruled out at this stage by insurers - I do believe that there are situations under which insurance companies should be allowed access to results. The reasoning is as follows.

Life insurance and disability insurance work on a system of groups of people considered to be approximately equal risks. People in the same 'pool' pay the same level of premiums, with lower premiums for those considered, on the basis of their medical and family histories, to be the best risks paying the lowest premiums. Once person tests positive for Huntingdon's Chorea, they are likely to want to make arrangements for their future, probably including taking out insurance they would not otherwise have done. Depending on their histories, they may well be placed in a good risk category by the insurance company, skewing the odds for that pool and causing premiums to rise for other customers when they begin to claim. The problem is not that they have the genetic defect, because levels of such diseases will remain more or less constant in the population through time, but that their behaviour may change as a result. If a contributing factor to their taking out insurance is this very high risk or certainty of developing a disease, then the insurer should be entitled to know this in order to place the customer in an appropriate category.

That the patient may well find it more expensive or more difficult to obtain insurance is unfortunate, but probably unavoidable. If they were to take out insurance because of their knowledge and without that of the insurer, the people who would suffer would be the other customers when premiums begin to rise for everyone. Young, healthy people who believe themselves for a variety of reasons to be at low risk might not insure themselves, and the situation would become cumulatively worse.

The creation of a genetic underclass, unable to obtain insurance, is of great concern to governments, mainly because all of us, the electors, have a sneaking concern that w e may end up being one of those people. Legislation is being passed in many parts of the world restricting access to genetic test results, frequently giving them a much higher level of protection than other parts of a person's medical history. There is no logical reason why this should be so. Legislation also makes it more difficult for insurers to gain access to results, but if governments are concerned about people with known genetic conditions gaining low-cost insurance, then surely they should gain public support to subsidise it out of their budget rather than expecting the public to pay for it through hikes in their premiums. Universal access to low cost insurance is an admirable aim, but the very nature of insurance makes it impossible.

A more interesting argument relates specifically to health insurance. If the health insurer is paying for the test, then it is likely to know the result. Should the insurer, or for that matter the doctor, be able to record the test result in the records of other family members, especially those with a certainty or a 50% chance of carrying the same gene? It would certainly be relevant from the point of view of the medical treatment of the given family member. I don't know the answer, but it's an interesting question.

The issue of genetic testing is highly contentious and will remain so. Today, genetic tests are being use in some cases inappropriately and in some cases are not being administered when they should be. I now of one case where a child was diagnosed with asthma which became so severe that she was hospitalised long term aged 13, when she was diagnosed as having cystic fibrosis. Earlier diagnosis probavly could have saved her large amounts of pain and missed education.

Genetic tests certainly have an important role to play in modern medicine, but our tendency to overestimate their usefulness and underestimate their risks is a very dangerous one. The moral and ethical issues of genetic testing and the associated ones of genetic engineering and gene therapy will continue to plague us well into the next millennium.


KyraDesign Photo Collection Kate's Pages More Opinion