Riddle of the Elephant Man

Riddle of the Elephant Man | Genetic Counselling | Genetic Testing | Find Out More

Dr Martin Brookes

January 2004

Genetic testing

Preparing a patient for the emotional roller coaster that is genetic testing is, perhaps, the most demanding aspect of a counsellor's job. Of course, the ultimate decision on whether to go ahead with a test lies with the individual, and Arnold acknowledges that testing certainly isn't for everyone: 'Some people hear genetics and run,' she says. Knowing what genes lie inside you can literally be a life-changing experience and many people, not surprisingly, prefer to remain in the dark.

The decision-making process depends not only on the individual but also on the particular disorder in question. Each disease has its own idiosyncrasies that affect the kinds of questions the counsellor and patient must address. Take Huntington's disease, for example, a neuro-degenerative disorder that affects about one in 10,000 people. Those born with the Huntington's gene appear perfectly normal until middle age, when the gene becomes active. Only then do the distressing symptoms of the disease become apparent: muscle spasms, mental and physical deterioration and personality changes leading, ultimately, to death.

Anyone who suspects that they might be carrying the Huntington's gene faces an awful dilemma. Remain ignorant and trust to luck, or take a genetic test and expose their fate. Arnold believes that a test can be beneficial, even when the results are bad. For some people the test can help them organise their lives and plan ahead for the future.

Not all genetic tests provide such concrete answers as the one for Huntington's disease. In many cases, a test will simply indicate whether or not an individual has greater susceptibility to the disease in question. Diet and lifestyle, as well as genes, can be key factors in the disease equation.

The range of disorders that can be tested for in the UK is growing. Yet the number is still small compared to the United States, where the private sector offers a far more comprehensive range of testing. Currently, there are more than 1000 tests for genetic-related conditions in the US, and the list continues to grow. Arnold, who trained in the US, believes that people there are much more pro-active in their attitude to testing. 'Americans are very gung-ho and take whatever they can,' she says, 'whereas the British are much more accepting of whatever's offered to them.'

Customer choice cannot conceal the fact that genetic testing remains, at best, a response rather than a solution to the problem of genetic disease. Yet so long as cures for most genetic disorders remain elusive, testing does, at least, offer a sense of resolution to those that want it. Sadly, that is something that was utterly denied to Joseph Merrick. His doctors could not even provide him with a diagnosis let alone a cure for his wretched predicament. In his early 20s, he underwent an operation to remove a 100-gramme piece of flesh from his face. But the surgeons were fighting a losing battle. In the 19th century they had neither the knowledge nor the skill to keep pace with his disease. Even today, continual corrective surgery is about as much as he might have hoped for.

The story of Joseph Merrick is, in many ways, a tragic one. Rejected by first his mother and then society, Merrick was denied those most basic but precious things we all have a right to expect from life: love, companionship and respect. One can only guess at the terrible persecution and suffering he must have endured. And yet through it all he remained a figure of profound courage and dignity. Out of a life of unparalleled misery emerged a gentle, compassionate and loveable man, bereft of bitterness and hatred. He may well have become an infamous icon of genetic disease. But above all, he is a towering example of the human spirit. Without any hope of a cure or help from counselling, he faced up to the ultimate genetic test. His short life should be a lesson to us all.

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