Screening for Gauchers disease in non-symptomatic individuals is a controversial subject. Susan Lewis puts forward the Association's view.
You may have already read in the American National Gaucher Foundation's Spring Newsletter, an article on its front page 'Have Your Family to Brunch - Help Stamp Out Gaucher Disease'.
In it Diana Ely Epstein describes how she gathered her extended family to a Sunday meal and asked them for a sample of blood at the same time so that each could be screened for both Gaucher Disease and Tay Sachs.
She said 'The only way to avoid the possibility of continuing to pass on the defective gene or to begin early treatment of patients is to identify potential carriers and victims in the population most at risk: those who are blood related to someone with the disease. Life choices like marriage and child bearing should be made with genetic facts in hand. Additionally, scientists in search of a permanent cure need to do extensive analysis.'
Counselling
The Gauchers Association has given the subject of screening and genetic
counselling considerable thought and disagrees with the approach advised by Mrs
Epstein.
In its adopted paper on the subject, the Association says 'No screening within families should be undertaken without full and proper consideration of the effects of any potential result. Counselling must be available prior to any screening.'
The paper continues 'Screening must be voluntary, either as part of a diagnosis or initiated by the individual concerned. Pressure for screening of non-symptomatic individuals should not come from external sources eg other relatives, researchers, doctors.
'Research to help Gauchers patients and their families should come from information obtained from sufferers who already have symptoms.'
Problems
The screening of non-symptomatic relatives can be a dubious exercise and
fraught with problems. One doctor recently said 'People don't want to be
screened - they want to be told they don't have the disease'.
But what happens if they are told they do have the disease although they don't have any symptoms? They may be stigmatised and may worry unduly about their future.
The Association knows of one case where an extended family were screened. Unforeseen trauma, and it was felt unneccesary upset, was caused to some members of that family which had not been anticipated when they agreed to take part in the exercise.
Insurance
Non-symptomatic relatives with positive results might also have trouble getting
life insurance, a mortgage or private health insurance.
At the moment, there is no treatment for non-symptomatic sufferers. Ceredase, the only treatment currently available to prevent or reverse symptoms, is not even available for all symptomatic patients in the UK because of its high cost. In addition treatment might be considered unnecessary because symptoms may never arise.
If relatives are told they are carriers, this might also cause worry. As Mrs Epstein points out, 'life choices like marriage and childbearing might have to be made'.
Questions arise, for instance: Should I check whether my partner is a carrier? If he or she is, should we have children? If we do, should we have the foetus tested with a possible view to abortion? In most cases of Gauchers Type 1, abortion may not be considered an option.
Concern
If you are concerned about yourself or your family, counselling should be
sought to decide whether screening is necessary. The paper says 'Concerned
individuals should be given the opportunity to meet Gauchers sufferers and
their families as part of the counselling process.'
A copy of the paper 'Genetic Screening and Counselling' is available from the Association.
Source: Gauchers News November 1993
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