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Human Genetics Commission (HGC) and direct to consumer Genetic Tests,
leading to Genetic Counselling.
Susan Mayor’s succinct summary of the HGC’s present recommendations
on genetic testing with subsequent genetic counseling is very helpful [15
May 2009, page 1995]. I am delighted that “the draft framework is being
circulated widely for consultation before being finalised” [1]. As one
involved in genetic counseling and voluntary family size limitation
(GCVFSL) for 4 decades [2, 3] I include myself in the consultation
process.
TWO DIFFERENT TARGET CONSUMERS
The chairperson of the Working Group, Professor Frances Flinter, is
quoted as saying “principles have been developed with the best interests
of consumers at the forefront” [1] There are, by and large, two distinct
types of “consumers” in the UK – (a) The Caucasian British for whom
genetic epidemiology has to do as much with genetic proneness to the
cancers (breast, colon, stomach, prostate, etc) and leukaemias as to
cystic fibrosis, Huntington’s chorea etc (b) The non-Caucasian British
like West Africans and East Africans of whom 1 in 3 (yes one in three) has
a beta-globin gene variant which is non-clinical and therefore not
identifiable unless by genetic tests. This same African group has a 1 in 4
to 1 in 6 incidence of glucose 6 phosphate dehydrogenase (G6PD) deficiency
[4 5], also unidentifiable clinically except by laboratory tests. It is
this African group that I deal with in two countries, Ghana and the UK,
where in the latter the burden of sickle cell disease (scd) on the NHS is
increasing exponentially [6]
FOUR GROUPS OF AFRICANS FOR TESTING & COUNSELLING
(i) The scd patient who asks “How can I prevent this happening in
my children”?
(ii) The asymptomatic sibling: “How do I prevent it happening in our
children?”
(iii) The merely curious: “What is this that I see my friends suffering
from?”
(iv) The unaware who are confronted with “Have you heard of Sickle Cell
Disease?”
These are the four groups that I have been dealing with. The detailed
way I handle them must be the subject of another communication but suffice
it to say that I have found testing in the UK for counseling these groups
is not as good even in the best laboratories in London as in Ghana. The
most reliable lab in central London that I use takes one week (yes, 7
days) to tell me whether my “customer” has G6PD Deficiency or not. One UK
Teaching Hospital sent a report on a Sickle Cell Trait: “Hb S 50%. Hb A
50%” which is nonsense of course seeing that the three known modes of Hb S
in the Sickle Cell Trait are 20-25%, 30-33%, and 35-37.5% reflected (as I
pointed out examining in Professor Herman Lehmann’s Cambridge University
Laboratory 100 consecutive sickle cell traits in London) interaction
respectively with “Lehmann & Carrell’s 2-alpha thalassaemia, 1-alpha
thalassaemia, and no-alpha thalassaemia genesl” [7, 8]. When I protested
at the “S=50%, A=50%” report from the UK Teaching Hospital, I was told
(with apologies) that the Consultant had not checked the results before
they were sent out.
And this goes to the nub of the matter. Doing genetic counseling
whether in Ghana or the UK with the “NHS” type of hospital where
technicians send out reports unsupervised is to court disaster, if not law
suits. In Ghana we had our own WHO and IAEA (International Atomic Energy
Agency) sponsored laboratory in addition to the General Hospital lab,
rather like Stanley Shaldon’s at the Royal Free Hospital in Sheila
Sherlock’s Department of Medicine when Stanley realized that he could do
his unique Haemodialysis work in the UK efficiently only when he relied on
his own laboratory for the end stage renal failure patients [9]
DIRECT TO CONSUMER GENETIC TESTS
The virtue, in my opinion, of the HGC’s recommendation of direct to
genetic consumer genetic tests is two fold. First, my African patients
will realize that the genetic future of their children and grand children
does not lie in the hands of any government, socialist or otherwise. It
lies in their own hands. If we Africans want to have children who will not
suffer from sickle cell disease [ACHEACHE, as I teach enquirers to call
it] we must ourelves get up and go and buy the ‘direct-to-customer’ kit to
see whether we are NORMNORM (no beta-globin gene variant like 4 of my
parents’ children), NORMACHE (one beta-globin gene variant, like 4 of my
parents’ children), or ACHEACHE like 3 of my siblings – See http://www.konotey-ahulu.com/images/generation.jpg [10]) Secondly, it is
envisaged that HGC’s recommendations will make sure, I hope, that the
industry that makes “provision for genetic tests to the public” [1] will
neither keep Consultants waiting 7 days for G6PD results nor provide
produce unreliable haemoglobin electrophoretic results. But why is the
G6PD test important in genetic counseling for haemoglobinopathy? ANSWER:
Anaemia in a Sickle Cell Trait (‘AS’ with Haemoglobin S=30%) that has
often been wrongly diagnosed ‘Sickle Cell Anaemia’ because of the low
haemoglobin can be due to the fact that the “customer” had been given
Chloramphenicol for typhoid and dropped within 3 days his normal Sickle
Cell Trait Haemoglobin from 15.0 g/dL to 10.0 g/dL because of G6PD
Deficiency [5]. If, before HGC finalised this consultation process, one
could sit down with ‘Industry’ to itemize what constituted “beta-globin
variant ‘ACHE’” that one would be looking for to guide one in genetic
counseling HGC would have done a great deal of service to the African
community in the UK. I listed no less than 42 known Sickle Cell Diseases
with varying phenotype morbidities [7, pages 59-61], that is, no less than
42 beta-globin variants that have been inherited with haemobglobin S from
parents to constitute ACHEACHE disease in their offspring, and if we in
Ghana (in the bush as it were) were able to discover Sickle Cell
Haemoglobin Korle Bu [11], Sickle Cell Haemoglobin Osu-Christansborg [12],
Sickle Cell Haemoglobin KWoolwich [13] etc (all of them ACHEACHE disease
phenotypes), why should we not expect “Industry” in the UK to provide
“direct-to-customer” kits that would, at least, come out with some such
verdict as “Two beta-globin variants seen, please investigate further
before concluding genetic counseling” ?
GENETIC COUNSELLING
I usually couple my genetic counseling with advice for voluntary
family size limitation. For example, sickle cell trait twins of
marriageable age are counseled differently. In the natural African setting
the male twin has a far greater potential to pass on his ‘S’ genes to
future generation because of the male procreative superiority index (MPSI)
which I demonstrated through a country-wide survey was greatly significant
in Ghana. Males have more that twice as many children in the north of
Ghana than females, while in the south (Accra for instance) the father has
“1.5 children to every 1 of the female” [14 15]. Imagine a Sickle Cell
Trait Paramount Chief with 30 children. Fifteen will be Sickle Cell Trait
and, as 1 in 3 of the wives (totally asymptomatic) will have a beta-globin
variant, the chief’s contribution to the scd burden in the tribe is huge
[16]. I make this clear whether my genetic counseling session is in Ghana
or in London.
Three other features of counseling in the UK need mentioning.
(a)
There is a lot of prejudice against white people telling us to limit our
families. “Because of the
ethical and ethnic issues in genetic counseling and family planning” I
once remarked “black people are apprehensive of genetic programmes
spearheaded by foreigners” [17]
(b) If one got “Industry” to sit down with one to get an almost fail
proof test kit, one would want to recheck things with the kind of reliable
laboratory I use in central London which, though they take 1 week to
quantify G6PD enzyme, they make it a point of discussing ‘strange’
electrophoretic patterns with me before issuing a report.
Laboratory/Clinician cooperation with interaction is excellent. Other
laboratories would insist on arguing with me when I told them a Sickle
Cell Trait result of Hb S=20% was not a mistake, and that if they did Hb H
inclusion bodies they would find them POSITIVE, and that it was even good
news for the healthy Sickle Trait. That lab would also ring me to say they
had found Fetal Haemoglobin of 37% in a sample. “Do Kleiheuer-Betke test
and you will find homogeneous staining” And that was how they would
diagnose that particular ‘ACHE’ to be ‘Hereditaty Persistence of Fetal
Haemoglobin’. Or they would ring me to discuss finding normal adult
haemoglobin A of 38% with sickle cell haemoglobin ‘S’ when the patient had
never been transfused. “Discuss this with the Consultant, and you will
find that he will say this is known as Sickle Cell beta-plus Thalssaemia
with raised Haemoglobin A2. It is NOT Sickle Cell Trait”. And so on.
Laboratory-Clinician interaction is a MUST in Genetic Counseling, as the
HGC in its wisdom recommended when they said things must be done “only
within the framework of a consultation with a medical practitioner”. [1]
(c) The third important point that has recently added an edge to my
Genetic Counselling sessions is the NCEPOD Report in the UK [18 19] which
said “Nine out of the 19 patients with sickle cell disease who had pain on
admission and who then died had been given excessive doses of opiods” [18
19], leading me to say this [20]: “My work in genetic counseling is made
somewhat easier. ‘Look here’ I tell my fellow Ghanaians, ‘one in three of
you is NORMACHE. Do you want to end up with ACHEACHE children who will be
given heroin for pain?’ [21 22)] Some of them have listened to me and
reduced the chances of this hereditary disease in their children.” I went
on “This genetic counseling work can best be done by us Africans, because
advice from non-Africans asking for family size limitation is likely to be
woefully misunderstood.’” [17 23]. And not very long sago I said this:
“Unless we Africans are involved in genetic counseling and family size
limitation for our kith and kin here in the UK and abroad, as I am doing
with some appreciable success, the genetic burden on the National Health
Service will go up and up. White people will clearly not do this for us”
[24] The present initiatives of the GHC can only be in the right
direction.
GENETIC TESTING AND INSURANCE
Finally, without a clear understanding of the difference between
Trait and Disease, people will be unwilling to submit themselves to
testing for fear of being victimized for financial gain. As I once asked:
“Who defines the range of spectrum of abnormalities to be insured or not
insured against when insurance companies are referring to healthy traits
as pre-existing conditions?” [25]. I described in the BMJ how I was given
4 (yes four) bodyguards during my brief stay in Philadelphia when I was
chosen to give the keynote Address at the Martin Luther King Junior
Foundation Award ceremony to honour Linus Pauling, Hermann Lehmann, A C
Allison, J V Neel, James Bowman, Graham Serjeant, myself, and others for
our contribution to knowledge in the Haemoglobinopathies [26]. But did I
have to be given 4 bodyguards? ANSWER: Yes, the organizers said because I
was going to mention that American Sickle Cell Traits who had run at the
Olympic Games at Mexico (8000 feet above sea level) and beaten the whole
world and got Gold Medals, should not have been told when they came down
to sea level in New York that their sickle cell trait was a “pre-existing
sickle cell disease” so they should pay 150% Insurance premium! The
organizers of the Award ceremony realized that the Insurance Companies
were bound to be offended by the Keynote Address, so I needed protection
[26]. I am very sure that this Human Genetics Commission is perfectly
equipped to deal with the Insurance problem relating to genetic testing.
Felix I D Konotey-Ahulu MBBS MD(Lond) DSc(UCC) FRCP(Lond) FRCP(Glasg)
DTMH(L’pool) FGA FGCP FAAS FTWAS Kwegyir Aggrey Distinguished Professor
of Human Genetics, University of Cape Coast, Ghana and Consultant
Physician Genetic Counsellor In Sickle and Other Haemoglobinopathies, 10
Harley Street, London W1G 9PF
Competing interests: I come from a sickle cell disease family, and I
am actively involved in genetic counseling to reduce the burden of sickle
cell disease in future generations.
1 Mayor Susan. Human Genetics Commission develops framework for
direct to consumer genetic tests. BMJ 2009; 338: b1995
2 Konotey-Ahulu FID, Ringelhann B. Sickle cell anaemia, sickle
cell thalassaemia, sickle cell haemoglobin C disease, and asymptomatic
haemoglobin C thalassaemia in one Ghanaian family. BMJ 1969; 1: 607-612.
3 Konotey-Ahulu FID. Sickle Cell Disease: The Case for Family
Planning. ASTAB Books, Accra, 1973.
4 Owusu SK. Absence of glucose 6 phosphate dehydrogenase (G6PD) in
red cells of an African. BMJ 1972; 4: 25-26.
6 Konotey-Ahulu FID. Survey of sickle cell disease in England and
Wales. BMJ 1982; 284: 112
7 Konotey-Ahulu FID. Alpha-Thalassaemia nomenclature and abnormal
haemoglobins. Lancet 1984; 1; 1024-25. May 5.
8 Lehmann H, Carrell RW. Differences between alpha and beta
thalassaemia: possible duplication of the alpha chain gene. BMJ 1968; iv:
748-50.
9 Shaldon S. Experience to date with home haemodialysis. In
Scribner BH (ed) Prosceedings of the working conference on Chronic
Dialysis. Seattle, WA, University of Washington, 1964, pages 66-69.
10 Konotey-Ahulu FID. Sickle Cell Disease in successive Ghanaiuan
generations for 3 Centuries. In The Sickle Cell Disease Patient. Natural
History from a Clinico-epidemiological study of the first 1550 patients of
the Korle Bu Sickle Cell Clinic. London, Macmillan 1991 & 1992;
Watford, Tetteh-A’Domeno Company, 1996.
11 Konotey-Ahulu FID, Gallo E, Lehmann H, Ringelhann B. Haemoglobin
Korle Bu (alpha-2 beta 73 Aspartic Acid to Asparagine), showing one of
the two amino acid substitutions of Haemoglobin C Harlem. Journal Med
Genet 1968; 5: 107-111.
12 Konotey-Ahulu FID, Kinderlerer JL, Lehmann H, Ringelhann B.
Haemoglobin Osu-Christiansborg. A new chain variant of Haemoglobin A (52
D3 Aspartic acid to Asparagine) in combination with Haemoglobin S. Journal
Med Genet 1971; 8: 302-305
13 Ringelhann B, Konotey-Ahulu FID, Talapatra NC, Nkrumah FK, Price
B, Lehmann H. Haemoglobin K Woolwich (alpha-2 beta-2 132Lys to Glycin) and
its combination with Hb S and C in two Ghanaian tribes. Acta Hematologica
1971; 45: 250-258
14 Konotey-Ahulu FID. Male Procreative Superiority Index (MPSI):
The missing coefficient in African Anthropogenetics. BMJ 1980; 281: 1700-
1702
15 Konotey-Ahulu FID. The Male Procreative Superiority Index
(MPSI): It’s relevance to genetical counseling in Africa. In FIFTY YEARS
OF HUMAN GENETICS – A Festschrift and liber amicorum to celebrate the life
and work of George Robert Fraser. Edited by Oliver Mayo & Carlolyn
Leach. Wakefield Press, Kent Town, South Australia, 2007, pages 48-51.
16 Konotey-Ahulu FID. Maintenance of high sickling rate in Africa:
Role of Polygamy. Journal of Tropical Medicine and Hygiene 1970; 73: 19-
21.
17 Konotey-Ahulu FID. Public health in less developed countries.
Lancet 2000; 356: 1769-1770. November 18.
18 Mayor Susan. Enquiry shows poor care for patients with sickle
cell disease. BMJ 2008; 336: 1152
19 NCEPOD (National Confidential Enquiry into Patient Outcome and
Death) Sickle: A Sickle Crisis? 2008 [Sebastian Lucas (Clinical Co-
ordinator); David Mason (Clinical Co-ordinator), M Mason (Chief
Executive), D Weyman (Researcher), Tom Treasurer (Chairman)] info@ncepod.org
23 Ringelhann B, Konotey-Ahulu FID. Haemoglobinopathies and
thalassemias in Mediterranean areas and in West Africa: historical and
other perspectives 1910 to 1997 [A Century Review] Atti dell’Academia
delle Science di Ferrara 1998; 74: 267-307.
24 Konotey-Ahulu FID. Need for ethnic experts to tackle genetic
public health. Lancet 2007; 370: 1826
25 Konotey-Ahulu FID. Insurance and genetic testing. Lancet 1993;
1: 833. March 3.
26 Konotey-Ahulu FID. Four bodyguards and the perils of unmasking
scientific truths. Personal View.BMJ 2007; 335: 210-211. July 28
Doi:10.1136/bmj.39268.553021.47
Competing interests:
I come from a sickle cell disease family, and I am actively involved in genetic counseling to reduce the burden of sickle cell disease in future generations.
Competing interests:
No competing interests
27 May 2009
Felix ID Konotey-Ahulu
Kwegyir Aggrey Distinguished Professor of Human Genetics, University of Cape Coast, Ghana
Consultant Physician Genetic Counsellor Sickle & Haemoglobinopathies 10 Harley St London W1G 9PF
Human Genetics Commission (HGC) and direct to consumer Genetic Tests, leading to Genetic Counselling
Human Genetics Commission (HGC) and direct to consumer Genetic Tests,
leading to Genetic Counselling.
Susan Mayor’s succinct summary of the HGC’s present recommendations
on genetic testing with subsequent genetic counseling is very helpful [15
May 2009, page 1995]. I am delighted that “the draft framework is being
circulated widely for consultation before being finalised” [1]. As one
involved in genetic counseling and voluntary family size limitation
(GCVFSL) for 4 decades [2, 3] I include myself in the consultation
process.
TWO DIFFERENT TARGET CONSUMERS
The chairperson of the Working Group, Professor Frances Flinter, is
quoted as saying “principles have been developed with the best interests
of consumers at the forefront” [1] There are, by and large, two distinct
types of “consumers” in the UK – (a) The Caucasian British for whom
genetic epidemiology has to do as much with genetic proneness to the
cancers (breast, colon, stomach, prostate, etc) and leukaemias as to
cystic fibrosis, Huntington’s chorea etc (b) The non-Caucasian British
like West Africans and East Africans of whom 1 in 3 (yes one in three) has
a beta-globin gene variant which is non-clinical and therefore not
identifiable unless by genetic tests. This same African group has a 1 in 4
to 1 in 6 incidence of glucose 6 phosphate dehydrogenase (G6PD) deficiency
[4 5], also unidentifiable clinically except by laboratory tests. It is
this African group that I deal with in two countries, Ghana and the UK,
where in the latter the burden of sickle cell disease (scd) on the NHS is
increasing exponentially [6]
FOUR GROUPS OF AFRICANS FOR TESTING & COUNSELLING
(i) The scd patient who asks “How can I prevent this happening in
my children”?
(ii) The asymptomatic sibling: “How do I prevent it happening in our
children?”
(iii) The merely curious: “What is this that I see my friends suffering
from?”
(iv) The unaware who are confronted with “Have you heard of Sickle Cell
Disease?”
These are the four groups that I have been dealing with. The detailed
way I handle them must be the subject of another communication but suffice
it to say that I have found testing in the UK for counseling these groups
is not as good even in the best laboratories in London as in Ghana. The
most reliable lab in central London that I use takes one week (yes, 7
days) to tell me whether my “customer” has G6PD Deficiency or not. One UK
Teaching Hospital sent a report on a Sickle Cell Trait: “Hb S 50%. Hb A
50%” which is nonsense of course seeing that the three known modes of Hb S
in the Sickle Cell Trait are 20-25%, 30-33%, and 35-37.5% reflected (as I
pointed out examining in Professor Herman Lehmann’s Cambridge University
Laboratory 100 consecutive sickle cell traits in London) interaction
respectively with “Lehmann & Carrell’s 2-alpha thalassaemia, 1-alpha
thalassaemia, and no-alpha thalassaemia genesl” [7, 8]. When I protested
at the “S=50%, A=50%” report from the UK Teaching Hospital, I was told
(with apologies) that the Consultant had not checked the results before
they were sent out.
And this goes to the nub of the matter. Doing genetic counseling
whether in Ghana or the UK with the “NHS” type of hospital where
technicians send out reports unsupervised is to court disaster, if not law
suits. In Ghana we had our own WHO and IAEA (International Atomic Energy
Agency) sponsored laboratory in addition to the General Hospital lab,
rather like Stanley Shaldon’s at the Royal Free Hospital in Sheila
Sherlock’s Department of Medicine when Stanley realized that he could do
his unique Haemodialysis work in the UK efficiently only when he relied on
his own laboratory for the end stage renal failure patients [9]
DIRECT TO CONSUMER GENETIC TESTS
The virtue, in my opinion, of the HGC’s recommendation of direct to
genetic consumer genetic tests is two fold. First, my African patients
will realize that the genetic future of their children and grand children
does not lie in the hands of any government, socialist or otherwise. It
lies in their own hands. If we Africans want to have children who will not
suffer from sickle cell disease [ACHEACHE, as I teach enquirers to call
it] we must ourelves get up and go and buy the ‘direct-to-customer’ kit to
see whether we are NORMNORM (no beta-globin gene variant like 4 of my
parents’ children), NORMACHE (one beta-globin gene variant, like 4 of my
parents’ children), or ACHEACHE like 3 of my siblings – See
http://www.konotey-ahulu.com/images/generation.jpg [10]) Secondly, it is
envisaged that HGC’s recommendations will make sure, I hope, that the
industry that makes “provision for genetic tests to the public” [1] will
neither keep Consultants waiting 7 days for G6PD results nor provide
produce unreliable haemoglobin electrophoretic results. But why is the
G6PD test important in genetic counseling for haemoglobinopathy? ANSWER:
Anaemia in a Sickle Cell Trait (‘AS’ with Haemoglobin S=30%) that has
often been wrongly diagnosed ‘Sickle Cell Anaemia’ because of the low
haemoglobin can be due to the fact that the “customer” had been given
Chloramphenicol for typhoid and dropped within 3 days his normal Sickle
Cell Trait Haemoglobin from 15.0 g/dL to 10.0 g/dL because of G6PD
Deficiency [5]. If, before HGC finalised this consultation process, one
could sit down with ‘Industry’ to itemize what constituted “beta-globin
variant ‘ACHE’” that one would be looking for to guide one in genetic
counseling HGC would have done a great deal of service to the African
community in the UK. I listed no less than 42 known Sickle Cell Diseases
with varying phenotype morbidities [7, pages 59-61], that is, no less than
42 beta-globin variants that have been inherited with haemobglobin S from
parents to constitute ACHEACHE disease in their offspring, and if we in
Ghana (in the bush as it were) were able to discover Sickle Cell
Haemoglobin Korle Bu [11], Sickle Cell Haemoglobin Osu-Christansborg [12],
Sickle Cell Haemoglobin KWoolwich [13] etc (all of them ACHEACHE disease
phenotypes), why should we not expect “Industry” in the UK to provide
“direct-to-customer” kits that would, at least, come out with some such
verdict as “Two beta-globin variants seen, please investigate further
before concluding genetic counseling” ?
GENETIC COUNSELLING
I usually couple my genetic counseling with advice for voluntary
family size limitation. For example, sickle cell trait twins of
marriageable age are counseled differently. In the natural African setting
the male twin has a far greater potential to pass on his ‘S’ genes to
future generation because of the male procreative superiority index (MPSI)
which I demonstrated through a country-wide survey was greatly significant
in Ghana. Males have more that twice as many children in the north of
Ghana than females, while in the south (Accra for instance) the father has
“1.5 children to every 1 of the female” [14 15]. Imagine a Sickle Cell
Trait Paramount Chief with 30 children. Fifteen will be Sickle Cell Trait
and, as 1 in 3 of the wives (totally asymptomatic) will have a beta-globin
variant, the chief’s contribution to the scd burden in the tribe is huge
[16]. I make this clear whether my genetic counseling session is in Ghana
or in London.
Three other features of counseling in the UK need mentioning.
(a)
There is a lot of prejudice against white people telling us to limit our
families. “Because of the
ethical and ethnic issues in genetic counseling and family planning” I
once remarked “black people are apprehensive of genetic programmes
spearheaded by foreigners” [17]
(b) If one got “Industry” to sit down with one to get an almost fail
proof test kit, one would want to recheck things with the kind of reliable
laboratory I use in central London which, though they take 1 week to
quantify G6PD enzyme, they make it a point of discussing ‘strange’
electrophoretic patterns with me before issuing a report.
Laboratory/Clinician cooperation with interaction is excellent. Other
laboratories would insist on arguing with me when I told them a Sickle
Cell Trait result of Hb S=20% was not a mistake, and that if they did Hb H
inclusion bodies they would find them POSITIVE, and that it was even good
news for the healthy Sickle Trait. That lab would also ring me to say they
had found Fetal Haemoglobin of 37% in a sample. “Do Kleiheuer-Betke test
and you will find homogeneous staining” And that was how they would
diagnose that particular ‘ACHE’ to be ‘Hereditaty Persistence of Fetal
Haemoglobin’. Or they would ring me to discuss finding normal adult
haemoglobin A of 38% with sickle cell haemoglobin ‘S’ when the patient had
never been transfused. “Discuss this with the Consultant, and you will
find that he will say this is known as Sickle Cell beta-plus Thalssaemia
with raised Haemoglobin A2. It is NOT Sickle Cell Trait”. And so on.
Laboratory-Clinician interaction is a MUST in Genetic Counseling, as the
HGC in its wisdom recommended when they said things must be done “only
within the framework of a consultation with a medical practitioner”. [1]
(c) The third important point that has recently added an edge to my
Genetic Counselling sessions is the NCEPOD Report in the UK [18 19] which
said “Nine out of the 19 patients with sickle cell disease who had pain on
admission and who then died had been given excessive doses of opiods” [18
19], leading me to say this [20]: “My work in genetic counseling is made
somewhat easier. ‘Look here’ I tell my fellow Ghanaians, ‘one in three of
you is NORMACHE. Do you want to end up with ACHEACHE children who will be
given heroin for pain?’ [21 22)] Some of them have listened to me and
reduced the chances of this hereditary disease in their children.” I went
on “This genetic counseling work can best be done by us Africans, because
advice from non-Africans asking for family size limitation is likely to be
woefully misunderstood.’” [17 23]. And not very long sago I said this:
“Unless we Africans are involved in genetic counseling and family size
limitation for our kith and kin here in the UK and abroad, as I am doing
with some appreciable success, the genetic burden on the National Health
Service will go up and up. White people will clearly not do this for us”
[24] The present initiatives of the GHC can only be in the right
direction.
GENETIC TESTING AND INSURANCE
Finally, without a clear understanding of the difference between
Trait and Disease, people will be unwilling to submit themselves to
testing for fear of being victimized for financial gain. As I once asked:
“Who defines the range of spectrum of abnormalities to be insured or not
insured against when insurance companies are referring to healthy traits
as pre-existing conditions?” [25]. I described in the BMJ how I was given
4 (yes four) bodyguards during my brief stay in Philadelphia when I was
chosen to give the keynote Address at the Martin Luther King Junior
Foundation Award ceremony to honour Linus Pauling, Hermann Lehmann, A C
Allison, J V Neel, James Bowman, Graham Serjeant, myself, and others for
our contribution to knowledge in the Haemoglobinopathies [26]. But did I
have to be given 4 bodyguards? ANSWER: Yes, the organizers said because I
was going to mention that American Sickle Cell Traits who had run at the
Olympic Games at Mexico (8000 feet above sea level) and beaten the whole
world and got Gold Medals, should not have been told when they came down
to sea level in New York that their sickle cell trait was a “pre-existing
sickle cell disease” so they should pay 150% Insurance premium! The
organizers of the Award ceremony realized that the Insurance Companies
were bound to be offended by the Keynote Address, so I needed protection
[26]. I am very sure that this Human Genetics Commission is perfectly
equipped to deal with the Insurance problem relating to genetic testing.
Felix I D Konotey-Ahulu MBBS MD(Lond) DSc(UCC) FRCP(Lond) FRCP(Glasg)
DTMH(L’pool) FGA FGCP FAAS FTWAS Kwegyir Aggrey Distinguished Professor
of Human Genetics, University of Cape Coast, Ghana and Consultant
Physician Genetic Counsellor In Sickle and Other Haemoglobinopathies, 10
Harley Street, London W1G 9PF
felix@konotey-ahulu.com
Competing interests: I come from a sickle cell disease family, and I
am actively involved in genetic counseling to reduce the burden of sickle
cell disease in future generations.
1 Mayor Susan. Human Genetics Commission develops framework for
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19 NCEPOD (National Confidential Enquiry into Patient Outcome and
Death) Sickle: A Sickle Crisis? 2008 [Sebastian Lucas (Clinical Co-
ordinator); David Mason (Clinical Co-ordinator), M Mason (Chief
Executive), D Weyman (Researcher), Tom Treasurer (Chairman)]
info@ncepod.org
20 Konotey-Ahulu FID. Poor care for sickle cell disease patients:
This wake up call is overdue BMJ Rapid Response 29 May 2008.
http://www.bmj.com/cgi/eletters/336/7654/1152-a#196224
21 Konotey-Ahulu FID. Konotey-Ahulu FID. Opiates for pain in dying
patients and in those with sickle cell disease. BMJ Rapid Response 11 Oct
2007.
http://www.bmj.com/cgi/eletters/335/7622/685#177986
22 Konotey-Ahulu FID. Current “hit and miss” care provision for
sickle cell disease patients in the UK. BMJ Rapid Response 22 July 2008
http://www.bmj.com/cgi/eletters/337/jul_2/a771
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24 Konotey-Ahulu FID. Need for ethnic experts to tackle genetic
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25 Konotey-Ahulu FID. Insurance and genetic testing. Lancet 1993;
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26 Konotey-Ahulu FID. Four bodyguards and the perils of unmasking
scientific truths. Personal View.BMJ 2007; 335: 210-211. July 28
Doi:10.1136/bmj.39268.553021.47
Competing interests:
I come from a sickle cell disease family, and I am actively involved in genetic counseling to reduce the burden of sickle cell disease in future generations.
Competing interests: No competing interests