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The recent correspondence in this journal (1) about genetic testing
for familial Alzheimer’s disease in a Spanish hospital, raises the need to
extend the debate, that is currently on-going in the daily Spanish press,
to the scientific community.
In spite of its high genetic penetrance, environmental factors can
also determine the phenotypic presentation of familial Alzheimer's disease
(2). Since the disease is currently incurable and no interventions have
been proven to either prevent or delay the onset of the disease,
considerations of the quality of life of the future patient are of maximum
importance.
A person who has been informed of his or her prognosis is faced with
psychological problems which may be helped by regular counselling or
psychological support, although neither the effectiveness of these
interventions nor their long term effects have yet been demonstrated (3).
The person has to live their life with psychological effects (which in
some cases have led to suicide) even though by the time the disease occurs
some 15, 20 or even 30 years later, an effective treatment may have been
developed or they may from unrelated reasons such cancer or an accident in
the intervening years.
Relationships and life plans may be influenced substantially by the
diagnosis. Should the affected person inform a future partner that they
have this genetic mutation and may need full time care in the future? If
they have children should the embryo undergo genetic selection (4)?
The social system is not currently prepared to provide support to
these new patients in finding employment suitable to a working lifestyle
that will be different from someone without the mutation, and social
security benefits do not take into account the future costs generated by
the diagnosis (e.g. days off work). Equally insurance companies are
unlikely to accept a person with a certain future disability and if they
do it would be at high cost.
The patient could be invited to participate in studies of developing
experimental preventive treatments which would involve them being
subjected to a variety of diagnostic tests and in taking medication in the
context of clinical trials. Although the patient would be very motivated
to try to improve their future prognosis, there may nevertheless be a high
cost in terms of quality of life eg from side effects.
In summary, genetic testing could lead to a whole series of
circumstances that may have a negative effect on the quality of life of
subjects tested positive. Early diagnosis of the disease might unleash a
process of premature medicalisation. There have already been several calls
from the scientific community (5) to ensure that genetic technologies bear
in mind social, ethical and other aspects of quality of life and that they
should also be based on evidence.
Maybe we should ask whether we are trying to treat non-existent
patients?
1. Rigg P. Spanish hospital offers genetic test for familial
Alzheimer’s. BMJ 2002;324:1478
2. Lippa CF, Swearer JM, Kane KJ, Nochlin D, Bird TD, Ghetti B, et al.
Familial Alzheimer'’ disease: site of mutation influences clinical
phenotype. Ann Neurol 2000; 48:376-9.
3. Broadstock M, Michie S, Marteau T. Psychological consequences of
predictive genetic testing: a systematic review. Eur J Hum Genet 2000;
8(10): 731-8.
4. Verlinsky Y, Rechitsky S, Verlinsky O, Masciangelo Ch, Lederer K,
Kuliev A. Preimplantation Diagnosis for Early-Onset Alzheimer Disease
Caused by V717L Mutation. JAMA 2002; 287(8): 1018-1021.
5. Melzer D, Zimmern R. Genetics and medicalisation. BMJ 2002; 324: 863-4.
Genetic test for familial Alzheimer's
The recent correspondence in this journal (1) about genetic testing
for familial Alzheimer’s disease in a Spanish hospital, raises the need to
extend the debate, that is currently on-going in the daily Spanish press,
to the scientific community.
In spite of its high genetic penetrance, environmental factors can
also determine the phenotypic presentation of familial Alzheimer's disease
(2). Since the disease is currently incurable and no interventions have
been proven to either prevent or delay the onset of the disease,
considerations of the quality of life of the future patient are of maximum
importance.
A person who has been informed of his or her prognosis is faced with
psychological problems which may be helped by regular counselling or
psychological support, although neither the effectiveness of these
interventions nor their long term effects have yet been demonstrated (3).
The person has to live their life with psychological effects (which in
some cases have led to suicide) even though by the time the disease occurs
some 15, 20 or even 30 years later, an effective treatment may have been
developed or they may from unrelated reasons such cancer or an accident in
the intervening years.
Relationships and life plans may be influenced substantially by the
diagnosis. Should the affected person inform a future partner that they
have this genetic mutation and may need full time care in the future? If
they have children should the embryo undergo genetic selection (4)?
The social system is not currently prepared to provide support to
these new patients in finding employment suitable to a working lifestyle
that will be different from someone without the mutation, and social
security benefits do not take into account the future costs generated by
the diagnosis (e.g. days off work). Equally insurance companies are
unlikely to accept a person with a certain future disability and if they
do it would be at high cost.
The patient could be invited to participate in studies of developing
experimental preventive treatments which would involve them being
subjected to a variety of diagnostic tests and in taking medication in the
context of clinical trials. Although the patient would be very motivated
to try to improve their future prognosis, there may nevertheless be a high
cost in terms of quality of life eg from side effects.
In summary, genetic testing could lead to a whole series of
circumstances that may have a negative effect on the quality of life of
subjects tested positive. Early diagnosis of the disease might unleash a
process of premature medicalisation. There have already been several calls
from the scientific community (5) to ensure that genetic technologies bear
in mind social, ethical and other aspects of quality of life and that they
should also be based on evidence.
Maybe we should ask whether we are trying to treat non-existent
patients?
1. Rigg P. Spanish hospital offers genetic test for familial
Alzheimer’s. BMJ 2002;324:1478
2. Lippa CF, Swearer JM, Kane KJ, Nochlin D, Bird TD, Ghetti B, et al.
Familial Alzheimer'’ disease: site of mutation influences clinical
phenotype. Ann Neurol 2000; 48:376-9.
3. Broadstock M, Michie S, Marteau T. Psychological consequences of
predictive genetic testing: a systematic review. Eur J Hum Genet 2000;
8(10): 731-8.
4. Verlinsky Y, Rechitsky S, Verlinsky O, Masciangelo Ch, Lederer K,
Kuliev A. Preimplantation Diagnosis for Early-Onset Alzheimer Disease
Caused by V717L Mutation. JAMA 2002; 287(8): 1018-1021.
5. Melzer D, Zimmern R. Genetics and medicalisation. BMJ 2002; 324: 863-4.
Competing interests: No competing interests