Ethics of mitochondrial gene replacement is also ethics of acquired genetic inheritance

www.bmj.com Posted in British Medical Journal on November 19, 2010

Felix ID Konotey-Ahulu, Dr Kwegyir Aggrey Distinguished Professor in Human Genetics University of Cape Coast Ghana
Consultant Physician Genetic Counsellor in Sickle Cell & Other Haemoglobinopathies 10 Harley St London W1G 9PF

Annelien Bredenoord and Peter Braude (8 November) have placed readers of the BMJ in their debt not only by meticulously dissecting the ethical and other dilemmas associated with this particular frontier of genetic research and impending practice, but also by calling for “a transparent public debate” [1]. I join the debate by briefly commenting on (a) Consequences of mitochondrial gene replacement (b) Legality (c) Ethics (d) Informed Consent.
CONSEQUENCES
I coin the term “acquired
More…
Annelien Bredenoord and Peter Braude (8 November) have placed readers of the BMJ in their debt not only by meticulously dissecting the ethical and other dilemmas associated with this particular frontier of genetic research and impending practice, but also by calling for “a transparent public debate” [1]. I join the debate by briefly commenting on (a) Consequences of mitochondrial gene replacement (b) Legality (c) Ethics (d) Informed Consent.
CONSEQUENCES
I coin the term “acquired genetic inheritance” which normally does not make sense, except that what we are talking about is “irreversibility of germ line modification” [1] which is passed on to offspring after offspring, not initiated genetically but instantly inherited through an acquired process. An enlightened offspring is one day entitled to ask “Why was such and such acquired for me and my future children?”, where “such and such” could be any unanticipated genetic defect resulting from the process.
LEGALITY
The legal process that will allow mitochondrial gene replacement depends entirely on where this is done in the world. If the British Parliament votes for it then it will be legal; if not, it will be illegal to practise it in the UK . Laws are not static – one parliament may say “No”, while the next may approve. Society gets the law it deserves. “The deliberate creation of human embryos for research . . .is legally prohibited in many countries” say Annelien Bredenoord and Peter Braude [1], so one wonders what happens when the country is not democratic, and dictators can say what must happen and what must not happen, and to whom? Who enacted Germany ‘s laws during the Nazi regime? [2]
ETHICS
“Ethics” I once said at a Human Genome Diversity Project Symposium “is sometimes not the first thing considered in the excitement of advances in scientific endeavour” [3] but as the article of Bredenoord and Braude makes abundantly clear, what is considered unethical by one group of scientists makes others take a different view: “the deliberate creation of embryos for research should be allowed under strict conditions” [1]. But what are these “strict conditions” that Annelien Bredenoord and Peter Braude have in mind?
I was for many years on the Ethics Committee of a leading UK Private Hospital that gave In Vitro Fertilisation consultations. The Chair-person was a Judge who presided over 10 of us that included another judge, an Obstetrician Gynaecologist, 2 Family Practitioners, a Consultant Physician/Neurologist, a Rabbi, a Consultant Physician/Nephrologist, the Matron of the Hospital, and 1 African, myself (Consultant Physician/Genetic Counsellor). Many were the requests from clients who begged for things they wanted done, but which we turned down unanimously – requests that other Ethics committees in the UK might well have approved simply because they were not illegal. Twice a year we made trips to Cambridge to visit (now) Nobel Laureate Robert Edwards whom I mentioned recently [4] had convened a panel of 30 of us under the auspices of the World Council of Churches on 25 June 1973 in Zurich to thrash out the ethics of what he was then embarking on [5]. I wonder what Bob Edwards now makes of the galloping pace of what is happening at the frontiers of Human Genetics.
INFORMED CONSENT
“A third question” asks Bredenoord and Braude “is how to guarantee adequate informed consent given the complexity of technical information, high uncertainty, and competing interests”? [1] Quite so! Leaving the UK aside and moving to the Third World scenario, we are told by the International Consortium sequencing 1000 genomes globally that “A thousand volunteers have already been recruited from Africa, Asia, America, and Europe” [6] and that the African volunteers who had given informed consent were the “Maasai in Kinyawa, Kenya”, the “Yoruba in Ibadan, Nigeria” and “Luhya in Wabuye, Kenya” [7]. I would dearly want to know how “the complexity of technical information” surrounding the genome sequencing exercise was explained to my fellow African natives. Of course we cannot check any details of what was communicated to them because the whole exercise was officially done “anonymously” [6 7]. Bredenoord and Braude have been impressively transparent in marshalling their theses but could we say that about some researchers who, denied the opportunity in their own countries to do forbidden research, would not hesitate to go to Guatemala with plenty of money in foreign exchange to move mitochondrial gene replacement from bench to the bedside? [8 9].
LOOKING FOR THE PERFECT BABY?
I myself am a bundle of funny genes, one of which is the Mendelian dominant extra digits [10], which (before the Swiss Basel missionaries went to the Gold Coast in 1828) some tribes east of us the Krobo people had considered so reprehensible that affected babies were drowned [10]. So appalled I was when I came to England to study Medicine to find that babies that would be born with the same sickle cell disease phenotype as 3 of my siblings were also recommended routinely to be aborted here legally that I later wrote to the BMJ:
“I was born in the Krobo tribe with extra digits – a Mendelian dominant condition with a 1% incidence at birth in Ghana . Had I been born a few miles south east across the Volta River , there would have been great rejoicing because local tribesmen had it that I was destined to be rich. If my mother had given birth to me a few miles north-west beyond the hills, I would not be here to write to you – I would have been drowned soon after birth. Fortunately the Krobo’s were neutral to extra digits but until the government forbade the practice some tribal elders took it on themselves to decide which genes ought to be allowed to survive!” [10]. I went on “Now some scientific tribesmen in the UK ” were similarly deciding which genes should be allowed to remain and which not [10]. Even those with sickle cell disease have been found in Ghana to have other genes which enabled them to achieve great things in life [11]. Some parents do not lightly consider having a baby with a known pathology, of course they don’t, but if the modern attitude is to go to all lengths, including irreversibly changing the germ line of future generations through replacing mitochondrial genes then many reasonable people will consider that a step too far. As regards the great importance of public debate on this vital matter I conclude with the words of a wise man, Sir David Weatherall FRS:
“Whether by opening up public debate about the long-term possibilities of genetic engineering we can prevent its gross misuse, either politically or in other ways, is for future generations to determine. But there is no reason for not trying. One of the major concerns about human genetic manipulation is that our track record in the ethical aspects of human genetics is not entirely reassuring” [12]. In any case, Africans are scared stiff of genetic and genomic studies practised on them however carefully researchers explain exactly what they are doing and obtain “informed consent”. [3]
Conflict of interest: Nothing to declare
Felix I D Konotey-Ahulu FGA MD(Lond) FRCP DTMH ORDER OF THE VOLTA ( GHANA )
Kwegyir Aggrey Distinguished Professor of Human Genetics, University of Cape Coast and Consultant Physician Genetic Counsellor in Sickle Cell and Other Haemoglobinopathies, 10 Harley Street, London W1G 9PF felix@konotey-ahulu.com
1 Bredenoord Annelien L, Braude Peter. Ethics of mitochondrial gene replacement: from bench to bedside. BMJ 2010; 341:c6021 doi: 10.1136/bmj.c6021 http://www.bmj.com/content/341/bmj.c6021?papertoc= Nov 8
2 Muller-Hill Berno. Murderous Science: Elimination by Scientific Selection of Jews, Gipsies, and Others – Germany 1933-1945. [Translated from German by G R Fraser] Oxford , Oxford University Press, 1988.
. 3 Konotey-Ahulu FID. The Human Genome Diversity Project: Cogitations of an African Native. Politics and The Life Sciences (PLS) Volume 18 Number 2, September 1999, pages 317-322 [Symposium PMID: 12561789 PubMed indexed for MEDLINE]
4 Konotey-Ahulu FID. Genius of Nobel Laureate Robert Edwards goes beyond IV F. http://www.bmj.com/content/341/bmj.c5533/reply#bmj_el_243005 BMJ Rapid Response, 14 October 2010.
5 World Council of Churches. Genetics and the Quality of Life: Study Encounter Vol X, No 1 1974. Report of a Consultation: Church and Society, Christian Medical Commission, World Council of Churches, Zurich , June 1973, Switzerland (Chairman Dr Robert Edwards)..
6 Wise Jaqui. Consortium hopes to sequence genome of 1000 volunteers. BMJ 2008; 336: 237 (February 2).
7 Announcement: International Consortium Announces the 1000 Genomes Project. Major Sequencing Effort Will Produce Most Detailed Map of Human Genetic Variation to Support Disease Studies. (Tuesday January 22 2008). http://www.1000genomes.org/files/1000Genomes-NewsRelease.pdf
8 Tanne Janice Hopkins. President Obama apologises to Guatemala over 1940’s syphilis study. BMJ 2010: 341. c5494 October 9, page 750. http://www.bmj.com/content/341/bmj.c5494.full
9 Konotey-Ahulu FID. President Obama apologises over Guatemala syphilis study: International co-operative research in jeopardy. BMJ Rapid Response http://http://www.bmj.com/content/341/bmj.c5494.full/reply#bmj_el_243183 Oct 17 2010.
10 Konotey-Ahulu FID. Ethical issues in pre-natal diagnosis. BMJ 1984; 289: 185 http://www.bmj.com/cgi/reprint/289/6438/185-a.pdf
11 Amanor-Boadu Dorothy, Bruce-Tagoe Alexander, Konotey-Ahulu FID. The Third International Conference On The Achievements of Sickle Cell Disease (ACHEACHE) Patients, Accra – 19th July 2010. Accra, Adeko Limited. ISBN: 978-1-3927-8. [International Conference Centre – 22 pages]
12 Weatherall DJ. Ethical issues and related problems arising from the application of the new genetics to clinical practice Chapter 12 in The New Genetics and Clinical Practice D J Weatherall, Oxford , Oxford University Press, Third Edition 1991, page 362.
Competing interests: None declared

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Antenatal sickle cell disease haemoglobinopathy screening

Responding to

Antenatal haemoglobinopathy screening
by Judy Shakespeare
BMJ 341:doi:10.1136/bmj.c5243 (Published 18 October 2010) www.bbj.com

Rapid Response http://www.bmj.com/content/341/bmj.c5243/reply#bmj_el_243447

October 25 2010 by

Felix ID Konotey-Ahulu, Kwegyir Aggrey Distinguished Professor of Human Genetics University of Cape Coast , Ghana  and Consultant Physician Genetic Counsellor in Sickle&Other Haemoglobinopathies 10 Harley St London W1G
The commissioned editorial [Reference 1] of Judy Shakespeare (18 October) is as comprehensive as the article [2] of Elizabeth Dormandy et al whose concerns the editorial underlined. My comments with references [3] on the Elizabeth Dormandy paper are therefore equally applicable to both articles, and will not largely be repeated here. But there are a couple of clarifications which readers would like to see made.  

CLARIFICATIONS NEEDED

What does the following mean? “Antenatal screening for sickle cell disease and thalassaemia is just the tip of a genetic iceberg and primary care needs to be prepared.” [1]. How can screening be the tip of an iceberg?
Nor is the following easily comprehensible: “In the United Kingdom , about 250,000 people are healthy carriers of sickle cell gene variants and 12,500 have the disease ..”

 What are healthy carriers of sickle cell gene variants? Does the author mean beta-globin gene variants? If as Judy Anderson states, her fellow general practitioners need to “raise their awareness and skills” to educate their patients are they likely to understand what “sickle cell gene variant carrier” means?

GHANAIAN BASIC TERMINOLOGY ACCEPTABLE TO EVEN ILLITERATES

Will UK General Practitioners countenance the terminology I use to instruct Ghanaian illiterates and fellow health staff with the message of sickle cell disease inheritance? For decades I have told them that all Ghanaians are divided into 3 broad phenotypes, using my own parents and their children [Reference 4] as examples: (i) ACHEACHE (those who have inherited an ACHE gene from both parents and therefore ache in the cold rainy season with sickle cell disease, like 3 of my parents’ 11 children) (ii) NORMNORM (no cold season rheumatism, like 4 of my parents’ children, having inherited no abnormal haemobglobin, and blood test shows no beta globin variant) (iii) NORMACHE (no cold season rheumatism, like the other healthy 4 of us but blood test shows one beta globin variant trait, like our parents). Every new patient of mine for several decades now has had Haemoglobin Electrophoresis done, confirming that 1 in 3 of West Africans is NORMACHE ie a Trait. In my experience, the assumption that identified NORMACHE x NORMACHE marriages will be queuing up to have prenatal diagnosis and selective abortion done when offered it is too presumptuous for the reasons already given in my earlier comments [Reference 3]. Many prefer genetic gambling, then stopping procreation after 1 or 2 children if they happen to avoid ACHEACHE phenotype. If a sickle cell disease offspring arrives, they do not panic because they know many adult ACHEACHE Achievers. [3]

SICKLE CELL DISEASE HAEMOGLOBINOPATHY IS DIFFERENT

 
Sickle cell anaemia, a qualitative molecular pathology ‘SS phenotype’, and beta thalassaemia major a quantitative molecular pathology are both, as Judy Shakespeare correctly points out [1] homozygous recessive, but their public health handling must be entirely different [Reference 3]. No where in the world is beta-thalassaemia minor, the heterozygote, 33.3% of the healthy population, whereas if one phenotypes West Africans anywhere in the world well above 35% of us will be NORMACHE, ie traits of abnormal haemoglobins (AC or AS), and we do not know it until we are investigated by Hb electrophoresis. Helping Ghanaians and Nigerians to make informed decisions in procreation does not lie in prenatal diagnosis and selective abortion as appears to be the case in Cyprus , but does lie in Genetic Counselling with Voluntary Family Size Limitation. [References 4 & 5]. And, take it from me, that works!

Felix I D Konotey-Ahulu MD(Lond) FRCP DTMH ORDER OF THE VOLTA ( GHANA )
Dr Kwegyir Aggrey Distinguished Professor of Human Genetics University of Cape Coast , Ghana and Consultant Physician Genetic Counsellor in Sickle and Other Haemoglobinopathies. [felix@konotey-ahulu.com]

 
Conflict of interest: My parents who were traits for abnormal haemoglobins, had 11children 3 of whom had sickle cell disease, 4 are traits and 4 have no beta globin gene variant.

1 Shakespeare Judy. Antenatal haemoglobinopathy screening. BMJ 2010; 341: c5243 (Editorial 18 October)

2 Dormandy Elizabeth, Gulliford Martin, Bryan Stirling, Roberts Tracy E, Calnan Michael, Atkin Karl, Karnon Jonathan, Logan Jane, Kavalier Fred, Harris Hilary J, Johnston TraceyA, Anionwu Elizabeth N, Tsianakas Vicki, Jones Patricia, Marteau Theresa M. Effectiveness of earlier antenatal screening for sickle cell disease and thalassaemia in primary care: cluster randomised trial. BMJ 341:doi:10.1136/bmj.c5132 (5 October 2010)

3 Konotey-Ahulu FID. Antenatal screening for sickle cell disease and beta-thalassaemia. http://www.bmj.com/content/341/bmj.c5132/reply#bmj_el_242914 BMJ Rapid response. 12 October 2010

4 Konotey-Ahulu FID. Sickle cell disease in successive Ghanaian generations for 3 Centuries. http://www.konotey-ahulu.com/images/generation.jpg 

In The Human Genome Diversity Project: Cogitations of An African Native. Politics and the Life Sciences (PLS) 1999, Vol 18: No 2, pp 317-322. [Invited Commentary on Professor David Resnik’s article: The Human Genome Diversity Project: Ethical Problems and Solutions] PMID: 12561789 [PubMed – indexed for MEDLINE]

5 Konotey-Ahulu FID. Sickle Cell Disease: The Case for Family Planning. Accra . ASTAB Books, Ltd 1973

Competing interests: My parents who were traits for abnormal haemoglobins, had 11 children 3 of whom had sickle cell disease, 4 are traits and 4 have no beta globin gene variant.

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The politics (and economics) of pain relief in the West and Third World

Feature: Pain control : The politics of pain
• Tatum Anderson
BMJ 341:doi:10.1136/bmj.c3800 (Published 11 August 2010) – www.bmj.com

The politics (and economics) of pain relief in the West and Third World
o Felix ID Konotey-Ahulu, Kwegyir Aggrey Distinguished Professor of Human Genetics University of Cape Coast Ghana
Consultant Physician Genetic Counsellor in Sickle/Other Haemoglobinopathies 10 Harley St London W1G
The politics (and economics) of pain relief in the West and Third World
Tatum Anderson (14 Aug, p 328) wished pain relievers elsewhere could imitate the “Western world” [1]. His concern needs to be put into perspective. Referring to Armenia he quotes Dr Karfeptyan as saying “Finances remain a problem” [1]. Yes, Health Ministers decide which imported drugs have priority over others.

WHO RECOMMENDATIONS
Tatum Anderson mentions WHO recommendations on pain relief, but WHO
More…
The politics (and economics) of pain relief in the West and Third World
Tatum Anderson (14 Aug, p 328) wished pain relievers elsewhere could imitate the “Western world” [1]. His concern needs to be put into perspective. Referring to Armenia he quotes Dr Karfeptyan as saying “Finances remain a problem” [1]. Yes, Health Ministers decide which imported drugs have priority over others.

WHO RECOMMENDATIONS
Tatum Anderson mentions WHO recommendations on pain relief, but WHO guidelines are not accompanied by money. Useful on paper, they can nevertheless be ignored. Exactly 38 years ago WHO convened some of us to produce an 83-page Technical Report on how to tackle the problem of Sickle Cell Disease. [2]. It was ignored. .
But WHO makes other recommendations which do not rely on foreign aid. WHO knows Traditional Medicine which costs a fraction of what imported drugs cost is widely used [3 4], and aims to “support and integrate traditional medicine into national health systems” [4]. True, some Africans cannot afford imported opiates but “85% of Nigerians use and consult traditional medicine for health care” [5]. Indeed, the pain of my own circumcision when a little boy was managed by a Krobo traditional healer who also “knew about haemostasis” [6]. Neither the ground haemostatic herbs nor the pain killing tincture came from abroad. Did the oral morphine that the Ugandans in Tatum Anderson’s article were using come from abroad, or did they get it from their traditional healers as WHO would have approved of?

WESTERN NATIONAL INTERESTS FIRST BEFORE ANYTHING ELSE
Tatum Anderson writes as if “The Western world” speaks with one voice. Take his comment: “Also, many patients with conditions, such as sickle cell anaemia, …require relief but do not get it” [1] The UK uses Diamorphine for sickle cell crisis patients [7 8], while “heroin has no accepted use in the United States” [9, page 168]. Do these two countries not belong to “The West” and yet do they not differ in their use of this particular opiate? That national interests have more to do with choice of drugs in their Pharmacopoeia is shown by UK’s reaction to Professor Elisabeth Goodman’s finding in the USA [10] that the use in painful crises of Ketorolac was as efficient as morphine but without the latter’s respiratory depression: “Ketorolac has no product licence in the UK for this indication” [11]. Professor Graham Serjeant has stated: “In Jamaican experience morphia or its derivatives are rarely used or necessary” [12, page 204]. I agree [3].

GHANAIAN SICKLE CELL DISEASE ACHIEVERS
On 19 July 2010 The Third International Conference On The Achievements of Sickle Cell Disease Patients [14] was held in Accra, followed on 20-23 July by The First Global Congress On Sickle Cell Disease to mark the 100th anniversary of the first clinical description of Sickle Cell Disease. The Conference had sickle cell anaemia adults in their 7th decade tell us how they managed to achieve great things [14 15]. One known “SS” man with a PhD, who had never in his 63 years been transfused though Hb level was never above 8.8 g/dL and who had never been prescribed Hydroxyurea, astonished delegates when he announced “I do not know when I last took a pain killer for my sickle cell anaemia. Drink plenty of water, avoid malaria, and have a positive attitude to life” [14, page 15].

NATIONAL ENQUIRY INTO PATIENTS OUTCOME AND DEATH (NCEPOD)
The NCEPOD report [7 8] concludes that during 2 years “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” [8], and this continues to happen [16 17] in spite of UK’s National Institute of Clinical Excellence (NICE) [18 19]. Is post narcotic administration death (pnad) the kind of relief that Tatum Anderson’s “West” is seeking for our patients, many of whom have become bread winners when their hereditary condition is managed properly? [20 21]

WHAT THE THIRD WORLD CAN AND MUST LEARN FROM THE WEST
There is plenty though The Third World can learn from the West, not least of which is ‘Discipline’ in personal and national affairs. We must learn that every privilege demands some responsibility. Why should it be implied [1] that Bill and Melinda Gates could supply us with free morphine? Why should we Africans expect help to come from outside when we refused to learn lessons like Singapore had done?
Next, we Africans need discipline against corruption. I described how a Lebanese, an Italian, plus a Ghanaian conspired and supplied the Ministry of Health in Accra with Ampicillin capsules stuffed with chalk and cassava powder as “500 mg Ampicillin” [22]. The then Commissioner of Health to whom I reported this, and who began to probe the racket was promptly removed from his post [22]. True, the Italian crook came from the “West” but, generally speaking, “The West” is ready to show us the proper means and ways to deal with situations like that [22]. Our envy of “The West” knows no bounds when we read of their ability to prosecute a French President, discipline a German Chancellor, investigate an Israeli Prime Minister, dismiss a Japanese Minister, and remove a sitting American President for “simply lying”. Twice in less than 3 years the BMJ has published articles on pain relief for Africans [1 23]. Can we also have articles showing how “The West” could help us prevent a Minister of Health from being removed for probing crooks in the pharmaceutical industry, and how we should not expect Bill and Melinda Gates to give us free antimalarial drugs when we have not covered open drains in our cities like Singapore and Trinidad have done? [24].
Felix I D Konotey-Ahulu MD(Lond) FRCP DTMH Dr 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

1 Anderson Tatum. The politics of pain. Brit Med J 2010; 341: c3800 http:// www.bmj.com/cgi/content/full/341/aug11_2/c3800
2 Boyo AE, Cabannes R, Conley CL, Lehmann H, Luzzatto L, Milner PF, Ringelhann B, Weatherall DJ, Barrai I, Konotey-Ahulu FID, Motulsky AG. Scientific Group on Treatment of Haemoglobinopathies and Allied Disorders. (Technical Report) 1972; 509 – 83 pages.
3 WHO. Traditional Medicine Strategy 2002-2005. Geneva: WHO 2002
4 WHO. Traditional Medicine. Fact Sheet No; 134. http://www.who.int/mediacentre/factsheets/fs134;en
5 Adelaja Abiose. Nigeria boosts research into traditional medicine. Sci Dev Net Dec 6 2006 http://www.scidev.net/en/news/nigeria- boosts-research-into-traditional-medicine.html
6 Konotey-Ahulu FID. Male circumcision and alleged protection against AIDS. http://www.bmj.com/cgi/eletters/335/7631/1206# BMJ 11 Dec 2007 Rapid Response
7 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 (Research), Tom Treasurer (Chairman) info@ncepod.org
8 Mayor Susan. Enquiry shows poor care for patients with sickle cell disease. BMJ 2008; 336: 1152.
9 Ballas S K. Sickle Cell Pain. IASP Press. Seattle, USA.
10 Goodman Elisabeth. Use of ketorolac in sickle cell disease and vaso-occlusive crisis. Lancet 1991; 338: 641-42.
11 Liesner RJ, Vandenberghe EA, Davies SC. Analgesics in sickle cell disease. Lancet 1993; 341: 188.
12 Serjeant GR. Sickle Cell Disease. Oxford. Oxford University Press, 1985, page 204.
13 Konotey-Ahulu FID. Morphine for painful crises in sickle cell disease. BMJ 1991; 302: 1604.
14 Amanor-Boadu Dorothy, Bruce-Tagoe Alexander, Konotey-Ahulu Felix. The Third International Conference On The Achievements Of Sickle Cell Disease (ACHEACHE) Patients. Accra – 19th July 2010. Adeko Ltd, Accra, Ghana. ISBN: 978-9988-1-3927-8.
15 The Second International Conference On The Achievements Of Sickle Cell Disease Patients, Accra 19th July 1995.
16 Dyer Clare. Inquest begins into deaths after concerns about diamorphine levels. BMJ 2009; 338: b903 [7 March]
17 Konotey-Ahulu FID. Inquest into diamorphine deaths; Does NCEPOD sickle cell patients report warrant a similar inquest? BMJ Rapid response 7 March 2010. http://www.bmj.com/cgi/eletters/338/mar03_3/b903#210208
18 Konotey-Ahulu FID. Poor care for sickle cell disease patients: This wake up call is overdue. http://www.bmj.com/cgi/elettres/336/7654/1152-a#196224 BMJ Rapid response 29 May 2008.
19 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/jul11_2/a771#199135
20 Serjeant GR. The case for dedicated sickle cell centres. BMJ 2007; 334: 477 (3 March)
21 Konotey-Ahulu FID. Dedicated sickle cell centres. BMJ Rapid response March 20 http://www.bmj.com/cgi/eletters/334/7591/477#162678
22 Konotey-Ahulu FID. Who should best pharmacovigilate in developing countries? 14 September 2007 BMJ Rapid Response to Editorial http://www.bmj.com/cgi/eletters/335/7618/462#167455
23 Logie Dorothy, Leng Mhoira. Africans die in pain because of fears of opiate addiction. BMJ 2007; 335: 685 http://www.bmj.com/cgi/content/full/335/7622/685 October 6 2007.
24 Konotey-Ahulu FID. Fighting Malaria: Isn’t the best approach through Environmental Hygiene and Public Health? BMJ Rapid Response April 26 2009 http://www.bmj.com/cgi/eletters/338/apr20_2/b1627#212782
Competing interests: None declared

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Third International Conference on the Achievements of Sickle Cell Disease Patients

The Third International Conference on the Achievements of Sickle Cell Disease Patients will take place at the Accra International Conference Centre on Monday 19th July, the day before the First World Congress On Sickle Cell Disease begins at the same venue. Attendance is free. Contact Co-Chairs Ms Dorothy Amanor-Boadu (elitens@yahoo.co.uk), Professor Alex Bruce-Tagoe (alexbt_2000@yahoo.com) and Professor Felix Konotey-Ahulu (felix@konotey-ahulu.com), and also the Local Chair for the World Congress Dr Ivy Ekem (ekem_ivy@hotmail.com)

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Current “hit and miss” care provision for sickle cell disease patients in the UK

Current “hit and miss” care provision for sickle cell disease patients in the UK

Following her article [1] on NCEPOD [2] Susan Mayor has, again, produced a succinct summary [3] of the recent publication of ‘Standards’ on the care of patients with sickle cell disease (scd) in the UK [4], written by a multidisciplinary working group chaired by Consultant Haematologist Dr Ade Olujohungbe. The public launch of the publication was on 9 July in the House of Commons where the Archbishop of York, Dr John Sentamu, said: “These Standards are another step in providing consistent care” [3].

HIT AND MISS CARE PROVISION

Hitherto, consistent care has not been UK’s strong point. The description by the ‘Standards’ Group’s chairman, Dr Olujohungbe who, in my opinion, has proved to be the most experienced Clinical Haematologist in the UK on the scd patient since Hammersmith Hospital’s Professor Lucio Luzzatto with whom Olujohungbe was closely associated, underlines what Graham Serjeant [5] and I have bemoaned for years. Olujohungbe said “The care provision for sickle cell disease is currently hit and miss, depending on the attitudes and experience of health professionals” [3]. This sad diagnosis by the leading UK haematologist on the scd patient was precisely why “NCEPOD found that many patients died of complications caused by excessive doses of opiods” [1, 2].

RESPONSE OF TEN DOWNING STREET

During the week when UK media (radio, television, & newspapers) were full of news that the Prime Minister was inviting personal phone calls and contacts on people’s concerns I took the opportunity to write to The Right Honorable Mr. Gordon Brown drawing his attention not only to the publication of the NCEPOD Report [2], but also to the international responses that were beginning to pour in [6]. The reply I got, dated 25 June 2008, from Ten Downing Street was encouraging: “Dear Dr Konotey-Ahulu – The Prime Minister has asked me to thank you for your recent letter and enclosures. Mr. Brown has asked that your letter be forwarded to the Department of Health so that they may reply to you on his behalf. (Signed) MR R SMITH”.

RESPONSE OF THE DEPARTMENT OF HEALTH

I looked forward eagerly to answers to the 3 questions I posed in my correspondence, namely (i) With respect to scd patients dying with overdose of opiods (heroin & morphine) in their blood “What kind of supervision led to this?” [6a] (ii) Why should West Indians and West Africans who did without morphine in their countries be put on morphine pumps when they were admitted to UK hospitals? [6a] (iii) To those UK haematologists who say “unbearable pain is unbearable pain, which must be treated with the most potent analgesic drugs known” I posed this third question, how many of them would prescribe diamorphine (heroin) monthly for their teenage daughters whose dysmenorrhoea was simply unbearable? [6a]. The Department of Health wrote back to me Ref; TO00000325139 dated 16 July 2008. Signed by “Shelley Wilson, Customer Service Centre”. All the questions were totally ignored. Would the National Institute of Clinical Excellence (NICE) now provide specific answers to these my 3 questions?

OUR GENETIC FUTURE

Africans, African-Caribbeans, and African Americans must wake up and realize that their genetic future depends on themselves, and not on any Department of Health. We must reduce the genetic disease burden, starting now, otherwise their children will continue to be subjected to “hit and miss” health care provision, ending up on heroin and morphine pumps. “Unless we Africans are involved in genetic counseling” and voluntary family size limitation (GCVFSL), I said not long ago “the genetic burden on the National Health Service will go up and up” [7]. What is more to the point, unless we take this very seriously our children and grand children will suffer greatly from scd [ACHEACHE syndrome], for “one in three West Africans in the UK has a beta-globin variant gene (ie NORMACHE) whose unsuspecting owner needs to be identified and helped with genetic counseling and family size limitation” [7]. Those who do not quite believe the enormity of the NCEPOD Report [2] should, please, start by taking a good look at how the rest of the world regards the “hit and miss” approach to the present care of sickle cell disease patients in the United Kingdom [6a-6j].

Felix I D Konotey-Ahulu MD(Lond) FRCP(Lond) DTMH(L’pool) – Kwegyir
Aggrey Distinguished Professor of Human Genetics, University of Cape Coast, Ghana and Consultant Physician Genetic Counsellor in Haemoglobinopathies, London W1G 9PF.

felix@konotey-ahulu.com

1 Mayor Susan. Enquiry shows poor care for patients with sickle cell disease. BMJ 2008; 336: 1152

2 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

3 Mayor Susan. Group publishes standards for adult sickle cell disease to reduce number of unexplained deaths. BMJ 2008;337:a771

4 Sickle Cell Society (London) The Standards for the Clinical Care of Adults with Sickle Cell Disease in the UK. http://www.sicklecellsociety.org

5 Serjeant GR. The case for dedicated sickle cell centres. BMJ 2007; 334: 477 (3 March)

6a http://www.bmj.com/cgi/eletters/336/7654/1152-a#196224 [Felix I D Konotey-Ahulu 29 May 2008] Poor care for sickle cell disease patients: This wake up call is overdue

6b http://www.bmj.com/cgi/eletters/336/7654/1152-a#196359 [Kwabena Frimpong-Boateng 30 May 2008] Re: Poor care for sickle cell disease patients: This wake up call is overdue

6c http://www.bmj.com/cgi/eletters/336/7654/1152-a#196514 [Marianne Janosi 3 June 2008] “Poor care for patients with sickle cell disease” BMJ 24 May 2008 Volume 336.

6d http://www.bmj.com/cgi/eletters/336/7654/1152-a#196520 [Cecilia Shoetan 3 June 2008] I lost my Sickle Cell disease adult daughter minutes after being given Diamorphine intravenously when she could not breathe.

6e http://www.bmj.com/cgi/eletters/336/7654/1152-a#196631 [Frank Edwin 5 June 2008] Re: Poor care for sickle cell disease patients: This wake up call is overdue

6f http://www.bmj.com/cgi/eletters/336/7654/1152-a#196848 [Ivy Ekem 9 June 2008] Care for sickle cell patients

6g http://www.bmj.com/cgi/eletters/336/7654/1152-a#197301 [Mawunu Chapman Nyaho 17 June 2008] Poor care for the sickle cell disease patient: “Pain won't kill him, but Morphine could”.

6h http://www.bmj.com/cgi/eletters/336/7654/1152-a#197350 [Emmanuel Jeurry Blankson 18 June 2008] Sickle Cell Disease is managed, NOT treated.

6i http://www.bmj.com/cgi/eletters/336/7654/1152-a#197377 [Yolande M Agble 18 June 2008] Re: Poor care for sickle cell disease patients: This wake up call is overdue.

6j http://www.bmj.com/cgi/eletters/336/7654/1152-a#198669 [Akosua M Dankwa 11 July 2008] Sickle Cell patients deserve to live.

7 Konotey-Ahulu FID. Need for ethnic experts to tackle genetic public health. Lancet 2007; 370: 1826 (December 1)

Competing interests: I come from a sickle cell disease (scd) family, my parents were traits (NORMACHE), and I am actively involved in genetic counselling to reduce the burden of sickle cell disease (ACHEACHE) in future generations.

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