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Screening for genetic disorders: need to avoid anxiety


People screened for genetic disorders must have appropriate follow-up and monitoring to avoid stress and anxiety, according to new research sponsored by the ESRC.

Those with a condition may also find it difficult to have their disease diagnosed and treated satisfactorily, and there can be surprisingly little or no access to genetic counselling. These are among the key issues identified in a unique three-year project led by Professor Paul Atkinson of Cardiff University, examining the consequences of genetic screening. It calls for urgent attention to these issues from health policymakers and planners.

Focusing on the disorder Genetic Haemochromatosis, the research team followed up otherwise healthy blood donors whose blood was tested as part of a study by Cardiff haematologists, and who were identified as susceptible to the disorder. Haemochromatosis causes the body to absorb an excessive amount of iron from food, and this can lead to damage to the liver and other body tissues.

The research found that identifying individuals as being at risk does not automatically mean that other potentially vulnerable members of the family will be alerted. People picked out as being at risk, but who did not yet have any symptoms, were not unduly anxious about their health, provided they felt they were being monitored and looked after. As a result, they often did not feel the need to pass on information about the condition to blood relatives who might also be at risk.

The study reveals that the risk status of individuals can be fraught with uncertainty. Identifying the gene does not predict with any degree of certainty whether full-blown symptoms will ever develop or, if they do, their severity or timing of onset. Professor Atkinson said: “Since the genetic science is still in its infancy, population screening exposes people to tentative projections of risk without giving them anything definite to go on.”

Screening for individuals who are at risk results in simple forms of medical management of the condition, including periodic bleeding to reduce the overload of iron. But there may be a more complex and expensive consequence for health services if such people need continuing support and advice. Professor Atkinson said: “Population screening can create a considerable burden of counselling and follow-up for primary and secondary health care services.” He warned that as population screening becomes available for an increasing variety of medical conditions, this burden will have to be assessed and costed very carefully. “The costs will be considerable, and may not be the best use of resources, which may be better directed to good diagnosis of the clinical condition”, he said.
Researchers also interviewed people with full-blown clinical Haemochromatosis, and members of the Haemochromatosis Society, which provides support and information for those affected by the disorder.

They found that, in contrast to the screened individuals, people with the symptoms of the condition had often experienced considerable difficulty in receiving an accurate diagnosis and suitable treatment from their general practitioner.

Professor Atkinson added: “There is a clear need for better diagnosis for those who develop the clinical symptoms who, if untreated, can suffer serious damage to their health. Because Genetic Haemochromatosis is relatively uncommon, GPs are not necessarily well equipped to recognise the symptoms of the disease for what they are.”

Becky Gammon | alfa
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