Items arranged by date, staring with the most recent:

2000 - current

Gene test blunder (July 2003)
Human Genome Project complete (July 2003)
GM crops latest (July 2003)
Deaf lesbian couple opt for a deaf child (January 2003)
Gene therapy setback (January 2003)
Genetic tests increase anxiety (July 2001)
Government encourages genetic tests in the NHS (July 2001)
Insurance moratorium on genetic tests (July 2001)
Human Genome contains fewer genes than expected (April 2001)
GM Primate Created (April 2001)
Genetic tests to determine insurance premiums (January 2001)
Genetic offspring for gays (January 2001)
Human Genome Unveiled (October 2000)
Insurance firms may demand genetic testing (July 2000)
Genetically Modified Babies Inevitable (April 2000)
Fewer embryos to be transferred to womb (April 2000)
Controversy over US Funding of Stem Cell research (April 2000)
First Full Human Chromosome Unencoded (April 2000)
Cancer and Genetics (April 2000)

1997 - 1999

GM crops could solve world hunger (October 1999)
Down's people treated as second class citizens (July 1999)
Single Cell Genetic Fingerprinting (April 1999)
Genetic Selection (January 1999)
Choosing your Baby's Sex (January 1999)
Human Genome Project (January 1999)
Gene Therapy Used to Treat HIV-1 (October 1998)
Concerns about Gene Therapy and Screening (July 1998)
Screening for Down's Syndrome (July 1998)
Prenatal Selection (April 1998)
Genes and Ageing (April 1998)
Genetics (April 1998)
New pre-implantation screening centres (January 1998)
Post-natal screening advances (January 1998)
Genetics update (January 1998)
New developments in genetic research (October 1997)
E.coli genome sequence unravelled (July 1997)
First artificial human chromosome (July 1997)
Scientists hope to map all human genes by 2004 (April 1997)

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genetics index

resource centre

July 2003

Gene test blunder

A prenatal screening programme for Cystic Fibrosis (CF) in the United States may have led to hundreds of women undergoing unnecessary tests during pregnancy, and even abortions. For the past two years, a national programme has been in place to enable all couples to undergo genetic testing in order to determine whether or not they are carriers of CF. However, it is feared that many of the results may have been misinterpreted and have led to women undergoing amniocentesis, which carries the risk of miscarriage.

The screening procedure involves testing parents' blood and saliva to see if they carry any genetic mutations. If they are both carriers, they have a one in four chance of conceiving a child with CF. Further tests can be carried out to determine whether or not the fetus's DNA has two defective genes.

A possible 900 mutations can cause all or some of the symptoms of CF, but the screening tools used only test for about 35 such mutations. One common mutation is known as 5T, however this only contributes to disease if its rarer counterpart, R117H, is also present. It has been revealed that over 20 prenatal tests had been performed on fetuses whose parents carried the 5T mutation alone, and this had led to some terminations. According to Michael Watson, director of the American College of Medical Genetics, 'at least 150 prenatals [have] been done which perhaps should not have been.'

In the UK CF screening is currently only offered to parents of newborn babies in Scotland. However, the government has pledged to introduce this in England. There are no plans to introduce a national antenatal screening programme. (bbc.co.uk 2003; 30 April, newscientist.com 2003; 30 April)

Human Genome Project complete

The Human Genome Project has been completed two years ahead of schedule. The announcement comes in the 50th year after the DNA double helix was discovered. A draft of the genome was finished in 2000.

The project has involved scientists from the USA, UK, Japan, Germany, France and China. In total three billion letters of DNA have been sequenced. The news has brought with it much optimism as it is hoped that it will lead to a better understanding of the role of genes in medical conditions and to the development of new treatments. Prime Minister Tony Blair described it as a 'landmark achievement that would reduce human suffering'.

It is hoped that there will be an increase in the accuracy of genetic diagnosis and it may soon be possible to tailor treatment to a patient's genetic make up. (Scotsman 2003; 14 April, BMJ 2003;326:838)

GM crops latest

The first genetically modified (GM) crops have been planted in India. Over 50,000 farmers have planted a modified version of the cotton plant known as Bt Cotton. The Bt Cotton is resistant to the bollworm, a bug that has caused havoc in India's cotton business for years. In the past farmers used large amounts of harmful pesticides to kill the worm but it is hoped that the new crop will make the use of chemicals avoidable.

Many concerns have been raised since the planting took place. Some scientists fear that other insects will become resistant to the new cotton so farmers will need to start using pesticides again. There are also worries about the modified crop entering the food chain and the risks this might generate, as the use of cottonseed oil in cooking is widespread. India has planted the Bt cotton in an effort to become a world exporter of cotton within the next five years. The price that the people may have to pay for the use of GM crops is yet to be seen.

The commercial growing of a genetically modified potato is also expected to be approved in India within the next few months. The 'protato' has been specifically designed to provide nutrients lacking in the diets of many of the country's poorest people. It contains a third more protein than normal, as well as high levels of other essential vitamins. It has been created by the addition of a gene from the amaranth plant, which is rich in protein. The head of the Indian government's Department of Biotechnology, Dr Manju Sharma, has said that the potato would be given free to children at government schools to try and reduce the problem of malnutrition.

Meanwhile, the UK government is currently sponsoring the country's first nationwide public discussion about GM issues. The GM Nation debate involves a series of public events across the country aimed at finding out how the public feels about the use of GM foodstuffs. The results will hopefully be known this autumn and the government has promised to consider the outcome of the meetings before making any further policy decisions. However, the exercise has been heavily criticised by environmental groups. A MORI poll in April found that 56% of Britons are opposed to the use of GM products, with 14% in favour. (gmpublicdebate.org, Guardian 2003; 8 May, bbc.co.uk 2003; 11 June)

January 2003

Deaf lesbian couple opt for a deaf child

A deaf lesbian couple in the USA have deliberately opted to have a deaf child by choosing a friend with familial deafness as a sperm donor.

The couple have the legal right to procreate with whomever they want, and in this respect the case raises no new difficulties. It has, however, sparked discussion over the extent to which such freedom of choice can be exercised using fertility technologies, which were initially developed to help couples avoid hereditary disease.

Members of the deaf community often find that deafness defines their cultural identity and see signing as a sophisticated form of communication. Having adapted their lives to deafness they may want a child who will easily fit into that lifestyle. A similar situation can arise with achondroplastic couples. Some couples have expressed a desire to use preimplantation genetic diagnosis (PGD) to select a deaf child - a process that many would see as a perversion of the technology's purpose.

Alternatively, a deaf couple in Australia have been allowed to screen out IVF embryos that carry a gene for deafness, a decision that has been criticised by ethicists there because it discriminates against deaf people and could pave the way for other extensions of PGD. (BMJ 2002;325:771-3, J Med Eth 2002;28:284-8, news.com.au 2002;21 September)

Gene therapy setback

A boy undergoing gene therapy for X-linked severe combined immunodeficiency syndrome (SCIDS) at the Necker Hospital, Paris, developed leukaemia in September 2002 as a result of the treatment.

The French case resulted in suspension of the gene therapy trial at the hospital, and has caused the UK's Gene Therapy Advisory Committee (GTAC) to recommend that additional measures be developed to protect patients. Two studies at Great Ormond Street Hospital, London, are closely related to the French trial.

Consultant Immunologist at Great Ormond Street, Professor Adrian Thrasher believes that the risks of others developing leukaemia are low: 'The problem in France has arisen because the transgene was inserted close to an oncogene and has activated it.However, it is almost certain that the leukaemia would have needed additional triggers, for example genetic predisposition and viral infection.'

After balancing the potential risks and benefits of the treatment, studies at Great Ormond Street will continue. The alternative options of therapy for these children are minimal, and there is a one year mortality of 20%. However, of the 600 therapy trials underway in the world, there is still little evidence that the practice works well for humans. (BMJ 2002;325:791)

July 2001

Genetic tests increase anxiety

According to experts, tests for genetic diseases are a mixed blessing for the public. In a recent article James Evans, the Director of Cancer Genetic Services at the University of North Carolina, states that such tests are imprecise and can cause anxiety and discrimination while not always offering any clear benefit. Genetic tests are wrongly portrayed by the media as being able to predict with certainty whether or not a person will develop certain conditions. But in many illnesses, particularly where other factors play a role in disease aetiology, this is far from true and merely leads to increased 'anxiety, stigmatisation and discrimination'. (Times 2001; 27 April)

Government encourages genetic tests in the NHS

The UK government has put forward a £30m package to encourage integration of genetic tests into every day general practice. The money will be used to double the number of consultant geneticists, support staff and genetic counsellors. It is predicted that the demand for such tests will rise by 80% a year. The government, which plans to cut waiting lists from a year to three months, is hoping that this will change NHS strategy from one of treatment to one of prevention, with treatments tailored to the individual's genetic profile. The government is also setting up a voluntary genetics database, which will initially be used to study cardiovascular disease, psychiatric illness and cancer. 500,000 volunteers will be asked for blood samples as soon as funding has been arranged. At the present time, this genetic information will remain anonymous. (BMJ 2001; 322:1018, 28 April)

Insurance moratorium on genetic tests

Insurance companies have bowed to pressure from the UK Government and have agreed to a two year moratorium on the use of positive genetic screening tests to assess their potential customers. A Commons science and technology committee report had urged the Government and the industry to 'calm public fears about the risk of a genetic underclass' and called for the moratorium.

While currently insurance companies rarely use genetic test data when assessing applications there are fears of discrimination on genetic grounds. The Association of British Insurers' code of practice, which governs the use of such tests, states that applicants cannot be asked to take a genetic test as a condition of gaining insurance. But companies can ask about previous tests and impose higher premiums based on them.

Last year 50 of 150,000 applications for Norwich Union insurance involved genetic data. The proportion was similar for other firms. The committee suggested that this small number could allow insurers to ignore all genetic test results with relative impunity, allowing time to establish their scientific and actuarial relevance. (Telegraph 2001; 4 April, Telegraph 2001; 24 April)

April 2001

Human Genome contains fewer genes than expected

The first analysis of the human genome was published in February, revealing far fewer genes than expected. Scientists also found that these genetic instructions were strikingly similar across all ethnic groups, with every person sharing 99.99% of their genetic code with all others.

The team working at the Sanger Centre near Cambridge, the main institution with public support, have pointed out in the journal Nature that all current drugs on the market are based on just 483 biological 'targets' in the human body and that the research has hopefully uncovered many more. But the surprise is that this vast diversity is described by as few as 26,000 genes - far fewer than previously estimated. They also discovered that we share many genes with more humble organisms - about half with the fruitfly and the nematode worm, and about a fifth with yeast.

According to Dr Craig Venter, of Celera Genomics, the other, privately funded team, only 1.1% of the genome consists of genes - the rest appears to be mostly repetitive 'junk' - so the biological differences that influence everything from our looks to our intellectual ability boil down to differences between 1,000 and 10,000 genetic letters. (Telegraph 2001; 12 February)

GM Primate created

Scientists have created the world's first genetically modified primate, a baby rhesus monkey called ANDi, in a bid to hasten the development of new treatments for a range of diseases from diabetes and breast cancer to Parkinson's and HIV. Animal rights campaigners condemned the practice as unethical. Church groups fear the work also raises the issue of whether similar techniques could be used to create GM humans. ANDi received an extra marker gene, from a jellyfish, while he was still an unfertilised egg.

The technique used to make ANDi could pave the way to the creation of laboratory monkeys that carry human genes, offering the opportunity for medical researchers to make more realistic models of human disease, such as by introducing the gene for Alzheimer's disease. However clinicians say that although primates have a greater genetic similarity to humans than mice do, GM monkey models of human disease have limitations, as for example some of the work on cognitive diseases, such as schizophrenia, can only be carried out in people. (Telegraph 2001; 12 January)

January 2001

Genetic tests to determine insurance premiums

Britain is to be the first country to allow insurers to use the results of genetic tests to identify people with hereditary illnesses. The government has gone against advice given by the Human Genetics Advisory Commission, and has given the go-ahead for insurers to use the results from genetic tests. Approval will be given first for testing for the neurological condition Huntington's Chorea. Hereditary breast cancer and Alzheimer's disease are expected to follow. Ministers have decided that insurers should be able to use the results subject to the Genetics and Insurance Committee agreeing a test's technical reliability. Concerns that such tests would create a genetic underclass led Holland, France and Norway to ban the use of tests by insurers. (Telegraph 2000; 13 October).

Genetic offspring for gays

The team that cloned 'Dolly the sheep' is researching a way of enabling male homosexual couples to have children that are their genetic descendants. The main problem that they are encountering is a way of manipulating 'imprinting', a process whereby the parental origin of a gene is marked. However it may be possible to replace DNA from a donated egg with that of a sperm and then maternally imprint it. It would then be able to develop if fertilised with sperm from the partner. (Telegraph 2000; 26 September)

October 2000

Human Genome Unveiled

The first working draft of the human genome has been completed ahead of schedule, the result of an international collaboration between eight publicly funded university centres that started in 1990. The draft has sparked widespread concern about the potential misuse of the information and the British Prime Minister, Tony Blair, has said that the information must be used to transform medicine, not abused to make man his own creator or enable him to invade an individual's privacy. The Human Genetics Committee has been set up to act as an advisory committee to the British Government and to protect society from the misuse of the information revealed in the genome. It will address issues such as patenting, genetic testing and insurance, and genetic testing and employment (BMJ 2000; 321:7, 1 July).

July 2000

Insurance firms may demand genetic testing

From September the UK government may allow insurance firms to ask people with a family history of illness such as Huntington's Chorea to undergo tests to see if they carry the gene responsible. Carriers would then face higher premiums for medical, life and travel insurance. Ministers had previously opposed testing on the grounds that it would leave a 'genetic underclass' unable to afford insurance. However, they are now reported to believe that if they do not regulate testing, insurers could insist on subjecting people to unchecked and potentially unreliable tests. Some employers in America are already using genetic tests in order to avoid the increased costs associated with workers who are genetically predisposed to particular ailments (Times 2000; 8 January, Times 2000; 8 March, Times 2000; 20 March).

April 2000

Genetically Modified Babies Inevitable

Although germ-line therapy has been rejected by doctors and scientists on ethical grounds Lord Winston has said that genetically modified babies are inevitable and claims that more serious debate is needed on the subject. Many people believe that gene therapy will be increasingly used to alter behaviour and appearance in an effort to produce a perfect baby. However, any attempt to manipulate characteristics such as intelligence would be very difficult as they depend on many genes. Furthermore, the effects of such therapy would be very unpredictable for future generations. (Telegraph 2000; 27 January)

Fewer embryos to be transferred to womb

Leading doctors have called for a decrease in the number of embryos to be transferred to women undergoing fertility treatment. The usual number is currently three, and the doctors want it to be lowered to two, saying that there is an unacceptably high rate of multiple births as a result of fertility treatments. (Telegraph 2000; 21 January)

Controversy over US Funding of Stem Cell research

The US National Institute of Health is preparing to allow federal funding of research into human pluripotent stem cells, for the first time ever. It is hoping to set up a research group to ensure its guidelines are strictly followed. Stem cells will be derived from human embryos or early fetal tissue. This has caused controversy because the government has previously stated that it does not want to be involved in termination of the life of embryos, and such funding contradicts this. However, stem cells are not embryos, and do not on their own, have the potential to become a person.n (BMJ 1999;319:1517)

First Full Human Chromosome Unencoded

The Sanger Centre in Cambridge has finally completed the decoding of chromosome 22, the smallest human chromosome. Once the details are published, scientists can use the information to develop new treatments for several previously incurable conditions such as schizophrenia or deafness. By May 2000, the codes of the remaining chromosomes should have been revealed and the complete sequence will be accessible on the Internet. (Telegraph 1999; 28 November, BMJ 2000;320:206, 2 January)

Cancer and Genetics

Scientists have discovered a defective gene on the X chromosome that increases the risk of testicular cancer by up to 50 times in men who carry it. About 20% of cases are inherited, and up to a third of these are thought to be due to this gene, TGCT1. Identifying this gene will now allow doctors to start treating patients earlier, increase the cure rates and possibly use the technology to help research into breast, lung and bowel cancer. The researchers are reluctantly patenting the gene, saying that this is the only way to safeguard patients against predators who will patent and exploit it (Independent 2000; 1 February).

Another team of scientists from the Johns Hopkins Hospital in the US have created a genetically engineered vaccine to treat prostate cancer in men. The vaccine is made from the patient's own prostate cancer cells which are grown in a dish, and then inserted with a gene that produces an immune-system-activating protein.

The recombinant cells were X-rayed to kill off any malignant potential and given to a patient. Within four weeks there was an increased circulation of B cells producing antibodies against the cancer cells and also an increased number of T cells attacking the prostate tumour itself. It seems that the patient's immune system was re-educated to recognise the prostate cancer cells as a potential infection and attack them and also attack the main tumour. Work is now underway to produce a non-personalised vaccine to be used alongside surgery, chemotherapy and radiotherapy in the treatment of cancer (Independent 1999; 21 October).

October 1999

GM crops could solve world hunger

The Nuffield Council on Bioethics, which examines ethical issues raised by developments in medicine and biology, has firmly rejected calls for a postponement of the commercial planting of genetically modified (GM) crops. It argues that the technology has the potential to bring about important benefits such as improved nutrition, enhanced pest resistance, increased yields, and new products such as vaccines. People in well-developed countries are concerned about the possible risks of eating genetically modified foods. However, the group says that more weight should be given to the life-or-death concerns of the hungry. There is concern that the big industrial companies may restrict competition, thereby making it difficult for developing countries to gain access to the new technologies. (BMJ 1999;318:1506, 5 June)

July 1999

Down's people treated as second class citizens

A campaign to end medical discrimination against people with Down's Syndrome was launched in March. 1 in 1000 children is born with the disease. Archaic conceptions about the disease and insensitive and ignorant remarks made by health professionals are widespread. Mothers are being told that their babies should have been aborted and one consultant suggested to other doctors in the presence of a new mother that 'perhaps ante-natal testing should be insisted upon so that Down's babies aren't born'. (Sunday Telegraph 1999; 7 March)

April 1999

Single Cell Genetic Fingerprinting

A new single-cell genetic fingerprinting test has been developed at Leeds University which is a thousand times more sensitive than current DNA tests used to catch criminals. Embryos created during infertility treatment will be subjected to this test to screen for a wide variety of disorders: those with defects will be discarded. This has caused uproar in pro-life groups, who view it as a search-and-destroy procedure and have condemned it as degrading the value of human life. St George's Hospital is applying for a licence to use the test to select only healthy embryos for implantation, and hence increase the chance of a successful pregnancy. (The Telegraph 1998; 29 November)

January 1999

Genetic Selection

In the USA, a genetics professor has asked an ethics committee for permission to experiment on human fetuses destined for abortion. Left to nature, the babies would either be stillborn or born with severe diseases such as Tay-Sachs or SCIDS, and the mothers have already decided to terminate their pregnancies. Professor Anderson of the University of Southern California hopes to attempt gene therapy on the fetuses and then examine them after abortion to see how successful the treatment was. This has caused world-wide ethical uproar and clerics say scientists are losing their respect for life. There is a deluge of ethical issues over the proposal, including the possibility that if the therapy worked, the mother would learn that she had aborted a healthy baby. There are questions about what kind of baby would be born if the mother decided after the therapy not to have the abortion.

In Britain, legislation permits experimentation only on laboratory-produced human embryos up to the age of 14 days, under very strict controls.

The nuchal translucency test for Down's syndrome claims a detection rate of 80%, and has a false positive rate of 8%. However, 40% of fetuses with trisomy 21 die between twelve weeks of gestation and term, so the detection rate is nearer 60%, and about 30 invasive tests are required to identify a single affected fetus.

The recent and frequent discovery of genes associated with various diseases has led to fears that people with mental disorders may be subjected to inappropriate genetic testing. Most mental illness is multifactorial and genes play variable roles; bulimia has a genetic component of only 5%, while the genetic contribution to schizophrenia is 50-70%.

Although it is now possible to test for Alzheimer's disease, this is being discouraged as few people would benefit from this predictive test.

Accordingly, the Nuffield Council on Bioethics has recommended that unless there is a clear medical benefit, genetic testing, especially in children, embryos and fetuses, should be strongly discouraged. (The Telegraph 1998; 8 October, BMJ 1998;317:368, 8 August, BMJ 1998;317:422, 8 August, BMJ 1998;317:903, 3 October)

Choosing your Baby's Sex

A commercial genetics and infertility centre in the US is allowing clients the chance to choose the sex of their child. The technique used is the Microsort technique of sperm selection, developed by researchers at the Genetics and In Vitro Fertilization Institute in Virginia. The sperm is labelled with a DNA fluorescent dye (bisbenzimide) and then sorted by laser spectrophotometry. Success rates of 85% and 65% have been reported for the X and Y chromosomes, respectively. Only a few of the choices made had a medical justification. There are worries that the 'designer family' is just around the corner and that fetuses of the 'wrong' sex will be aborted. (BMJ 1998;317:768, 19 September)

Human Genome Project

This attempt to identify the DNA sequence of the entire human genome is due to be finished in 2003, two years ahead of schedule. A draft version containing about 90% of the total genetic information will be ready by 2001, and most of the DNA sequencing work is being carried out at the Sanger Centre in Cambridgeshire. Part of the project's aim is to study the ethical implications of genome research, as genetic information will be linked with personal identity, race and religion in a huge database. (BMJ 1998;317:834, 26 September)

October 1998

Gene Therapy Used to Treat HIV-1

Two genes from healthy CD4 lymphocytes have been used to produce a molecule that inhibits viral replication and a defective viral protein that interferes with RNA nuclear export. These two molecules cannot stop HIV-1 infecting cells, but may prolong the lives of these cells by reducing viral replication and cell lysis. A trial is now underway in America. (Lancet 1998;351:1709;6 June)

July 1998

Concerns about Gene Therapy and Screening

No useful gene therapy treatment has yet emerged for diseases such as cystic fibrosis, according to a recent editorial in Thorax. Despite this, many patients are pinning their hopes unrealistically on media reports that breakthroughs are near at hand.[15]
Exaggerated claims have also been made for genetic testing. In fact, the ability of genetic tests to predict disease accurately is limited by variable expressivity, incomplete penetrance and genetic heterogeneity even when single genes have a prominent role; and in many common disorders multiple genes are implicated.

Effective genetic testing requires accurate tests, pre-test and post-test education and counselling and protection of confidentiality; but commercial interests may mean that the technology is in wide use before proper protocols have been implemented. The psychological impact of screening on individuals and their families needs careful study. (BMJ 1998;316:852-6, 14 March, BMJ 1998;316:693-6, 28 February)

Screening for Down's Syndrome

Pressure is being applied for earlier antenatal screening for Down's syndrome after a large US study identified 80% of affected babies in the first trimester.

Parameters measured in 4412 pregnancies included a -fetoprotein, free b-human chorionic gonadotrophin, oestriol, pregnancy associated protein A and nuchal translucency. High risk cases then proceeded to chorionic villus sampling or amniocentesis and abortion. The Leeds antenatal screening service reports similar 'success' with smaller numbers of patients.

Supporters claim that the earlier test will enable earlier termination, with fewer physical and psychological complications for the mother. About 2.5 million pregnant women are screened for Down's syndrome each year in the United States, but nearly all the testing is carried out in the second trimester.

Down's syndrome is the most common genetic disorder and its elimination through selective abortion will no doubt provide a pattern for other forms of 'chromosomal cleansing'. Such screening is often done without consent. (BMJ 1998;316:1111, 11 April, BMJ 1998;316:1027, 28 March)

April 1998

Prenatal Selection

A massive review of antenatal screening for Down's syndrome has called for the establishment of 35 screening centres in Britain. The authors suggest that the procedure should be offered to all pregnant women in the second trimester, using triple or quadruple serum tests to select women for amniocentesis.

A programme offering testing for Fragile X syndrome in New South Wales has identified about 75% of affected families: all males with the full mutation were aborted.
Like children with Down's syndrome, males with Fragile X need extra help at school and protected employment later; usually they are not able to live independently. Affected females have much milder learning difficulties.

The above studies provide further evidence that prenatal 'search and destroy' policies for those with special needs are passing without comment in the medical press. (BMJ 1998;316:240, 17 January, Journal of Medical Screening 1997;4:181-246, BMJ 1997;315:1223-26, 8 November)

Genes and Ageing

Ageing and the disorders of later life are separate entities but both are under genetic control. Whilst ageing involves defects in mitochondrial DNA leading to oxidative cell damage, age related disorders (such as cancer, dementia and vascular disease) are due to the effects of inherited risk factors.

Scientists in the US have significantly extended the life span of cultured human cells by adding an enzyme called telomerase, fuelling speculation that the human life span could be extended beyond 120 years. Telomeres are highly conserved sequences of DNA present at the ends of chromosomes; they are shortened in the premature ageing condition progeria. Normal cell ageing is thought to be due to sloughing of telomeric DNA.

This work may have application in reversing blindness from macular degeneration, wound healing and skin grafting. Interestingly, men lived much longer before the great flood, at which time God decreed a life span of...120 years. Was the mechanism genetic? (Student BMJ 1997;5:418-421, November, BMJ 1998;316:247, 24 January)

Genetics

'In the last eight years...about 30 major gene therapy companies have been launched, three major gene therapy journals have been established, more than 200 human gene therapy protocols have been approved and over 2,000 patients have received gene therapy. As yet, however, only a handful of patients with rare conditions have benefited....' So began a major review of the status of gene therapy in the BMJ. While the future holds promise, there is a very long way to go, and the inevitable result is that more and more effort will be directed towards prenatal search and destroy strategies.

The US Task Force on Genetic Testing is concerned that, as the human genome project progresses, the number of genetic tests being developed could overwhelm institutional review boards. In the meantime, the Human Genetics Advisory Forum (HGAC) has recommended a two year moratorium on insurers asking clients for genetic test results. A new code for the industry states that existing results should be given. Part of the problem is that genetic epidemiology is still in its infancy. The HGAC has concluded: 'It is unlikely that actuarially important genetic predictions of common causes of adult death will be available and validated for some time'.

Meanwhile the presses are kept rolling with the latest genetic advances. Two of the most recent are the sequencing of the genome of Mycobacterium tuberculosis and the cloning of transgenic sheep capable of producing human factor IX. (BMJ 1997;315:1289-92, 15 November, BMJ 1997;315:1388, 22 November, BMJ 1998;316:8, 3 January, BMJ 1998;316:570, 21 February, BMJ 1998;316:8, 3 January)

January 1998

New pre-implantation screening centres

Fifty-five couples have now had pre-implantation genetic diagnosis at the Hammersmith Hospital and almost 100 babies have been born after the procedure world wide. This current rate of application is about to change with the granting of 'treatment' licenses to two other London Hospitals, University College London and Guy's & St Thomas's.

The procedure, which involves identification of potentially affected embryos after in vitro fertilisation, is most commonly used for cystic fibrosis. 'Success' has also been achieved with Tay Sachs disease, Rh D blood typing and X-linked disorders such as Duchenne muscular dystrophy and Lesch Nyhan syndrome. The new centres will offer identification of embryos with thalassemia and sickle cell disease.

Although the diagnosis of dominant disorders is more difficult; Marfan's syndrome and familial polyposis coli have been identified. In principle, providing the basis of a molecular disorder is known, mutation detection is possible. Only normal embryos are implanted.

An interesting associated finding has been that 30% of normally developing cleavage stage embryos are chromosomally mosaic, perhaps explaining the high rates of embryo attrition occurring naturally and with IVF. (BMJ 1997;315:828-9, 4 October)

Post-natal screening advances

A new technique which could save thousands of lives and reduce disability could be introduced in Britain within five years. Tandem mass spectrometry could enable 17 congenital metabolic diseases to be identified and treated at birth. Presently we can only test for phenylketonuria and hypothyroidism.

Meanwhile a new book by the Birth Control Trust (which encourages prenatal screening and abortion for fetal abnormality) has been extolled with a half page review in the British Medical Journal. While handicapped neonates are viewed as patients to be treated, those still in the womb are managed with 'search and destroy'. As the author notes, 'Birth is the defining feature of becoming a person in English law'.

Cost-effectiveness analyses raise further cause for concern about eugenic policies. In a recent Dutch article, the authors compared the cost of DNA diagnosis and abortion for muscular dystrophy with the lifetime costs (£0.5-£2m) of caring for the handicapped person. (BMJ 1997;315:901, 11 October, BMJ 1997;315:1169, 1 November, BMJ 1997;315:556, 30 August)

Genetics update

The 40-nation Council of Europe (CoE) has adopted a protocol which supports the banning of human cloning. Although not specifically mentioning the word 'cloning', the protocol prohibits creation of a human being genetically identical to another human being, whether living or dead. A CoE spokesman welcomed the 'clear, scientifically sound' wording as it bans the result, rather than the technique leading to the result.

A recent proposal has been made to undertake a world wide study of the genetic differences between different human populations. The project would entail collecting genome samples from all the major population groups on earth and creating a database to study genomic variations between populations. The purpose would be to learn about the origin and evolution of the human species and to provide data for biomedical research. A committee spokesman from the US National Research Council said that the project would provide enough information to answer questions about human evolution and history. It is seen as a platform from which more focused studies could be done. One question we must ask is whether the data is valuable enough to outweigh the dangers; it may well form the justification for modern-day eugenics programs built on 'clear, scientific data'.

A recent letter to the BMJ called upon the scientific community to combat media hype into genetic research by informing the public about 'the serious risks inherent in transgenic experimentation'. This was in response to accusations that current media disquiet about transgenic research is merely the product of a 'scientifically illiterate' society. (BMJ 1997;315:1252, 15 November, Lancet 1997;350:1012, 4 October, Lancet 1997;350:1306, 1 November, BMJ 1997;315:255, 26 July, BMJ 1997;314:913-4, 29 March)

October 1997

New developments in genetic research

After Dolly the cloned sheep, comes Polly, a lamb who has been cloned but also carries a human gene. Researchers say that the gene manufactures an undisclosed protein which could be extracted from milk to treat human disease.

A researcher claims to have cultured pluripotent human stem cells taken from aborted fetuses. Similar cell-lines in mice have resulted in unprecedented precision in genetic manipulations, producing 'chimeric mice' in which a proportion of the cells carry the altered genes.

A Canadian religious cult has set up a private company to sponsor research into human cloning. The Raelian movement believes that life on earth was created by aliens who also achieved the resurrection of Jesus by cloning. Although their chances are not highly-rated, the episode underlines the dangers of present legislation in the US and elsewhere; federal-backed research is banned but not that in the private sector.

The entire genetic sequence of Escherichia coli has now been reported by US researchers and work is well underway in locating genes contributing to enuresis and febrile convulsions. (New Scientist 1997; 2093:5, New Scientist 1997; 2091:4, New Scientist 1997; 2084:12, Science 1997; 277:1453-81, J Med Genetics 1997; 34:360-5, Dev Med and Child Neurology 1997; 39:79-84)

July 1997

E.coli genome sequence unravelled

The genome sequence of Escherichia coli has just been completed and is the third bacterial genome to be published after Haemophilus influenzae and Mycoplasma genitalium. As many as 100 further microbial genomes are likely to be sequenced in the next few years. Work on the Human Genome Project proceeds more slowly. However, an on-line database on the internet already contains information on over 8,000 inherited disorders. (BMJ 1997; 314:578)

First artificial human chromosome

Researchers in Ohio have created the first artificial human chromosome, following it through 240 successful divisions in a human cell line. The procedure became possible after DNA sequences integral to the centromere were unravelled. While numerous obstacles need still to be overcome, the artificial chromosome is being hailed as a replacement for virally mediated gene transfer and a possible treatment for inborn errors of metabolism. (BMJ 1997; 314:1070)

April 1997

Scientists hope to map all human genes by 2004

The Human Genome Project is world-wide initiative to locate and characterise the DNA sequence of nearly all our 90,000 genes. Scientists believe that they may complete this task by about the year 2004. The knowledge that the project promises to create, has potential use in the screening, prevention and treatment of genetic disorders.

Many of the ethical implications have not been thought through by the scientific and medical communities and in practice it is far easier to search out and destroy genetically impaired individuals than it is to correct existing genetic abnormalities. While somatic gene therapy has proved effective in SCIDS (see above) germ cell gene therapy (which alters the entire genetic constitution of an individual rather than just one line of cells) has not been successfully performed and is currently illegal.