GM Food on Trial: Testing European Democracy (Genetics and Society)
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Some people have also been asked to provide DNA samples when applying for documents such as residency permits from the police. In Xinjiang, a province that is home to around 10 million Muslim Uyghurs, an ethnic group already suffering state repression, all passport applicants are now required to provide DNA samples, irrespective of whether or not they are suspects in a criminal case.
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A collection of samples from individuals where no such consent has been given has been ruled illegal by many international bodies, and the very existence of such a database is dangerous. Professor Nicoline Hoogerbrugge, head of the Radboud university medical centre expert centre on hereditary cancers, Nijmegen, The Netherlands, will tell the conference that there is an urgent need to find families carrying a mutation for Lynch syndrome in order to decrease mortality from the disease.
Most countries rely on detection through family history and early age at diagnosis, and this leads to significant underdiagnosis. The researchers studied results of mismatch repair MMR testing in patients up to 70 years of age with colorectal cancer from 14 pathology laboratories. Previously, in The Netherlands, such testing was carried routinely in patients who were aged up to Of 87 patients whose results suggested that they are at high risk of Lynch syndrome, 35 were referred for genetic counselling.
After further testing, Lynch syndrome mutations were definitely identified in 13 of 32 patients with complete genetic testing, and 11 of these patients came from families in which the disease had previously not been detected. Eight of them were aged between 50 and 70 and did not comply with previous referral criteria for genetic testing based on age and family history.
This is clearly a massive advance in the identification of people at risk. The disease, otherwise known as hereditary nonpolyposis colorectal cancer HNPCC , also leads to an increased risk of cancers of the stomach, upper urinary tract, brain, skin and prostate, with women carriers at an additional of endometrial and ovarian cancers. For this, genetic tests need to be done in cancer patients. This study shows that we should extend these genetic tests to older colorectal cancer patients of whom a significant number suffer from familiar cancer.
The data have been updated since submission of the abstract, which accounts for the difference in numbers. Genetic or heritable factors are known to contribute to half of all cases, but until now studies had failed to identify the genetic variants associated with the condition.
Pelvic floor disorders, including urinary incontinence, but also faecal incontinence and pelvic organ prolapse, have a devastating effect on quality of life. Most commonly they occur after childbirth, or at menopause, though some women report incontinence dating from childhood. The researchers undertook a genome-wide association study GWAS in just under 9, women from three groups in Finland and the UK, confirming their findings in six further studies.
Genome-wide association studies work by scanning markers across the complete sets of DNA of large numbers of people in order to find genetic variants associated with a particular disease. Analysis of the study data yielded a risk locus for urinary incontinence close to the endothelin gene, known to be involved in the ability of the bladder to contract.
Although I was always hopeful that we would find something significant, there were major challenges involved in finding enough women to participate, and then collecting the information about incontinence. Current treatment for urinary incontinence in women includes pelvic floor and bladder training, advice on lifestyle changes for example, reducing fluid intake and losing weight , drugs to reduce bladder contraction, and surgery. However, as the number of identified risk variants for urinary incontinence grows, there will be potential to introduce genetic screening for the condition, and improve advice to pregnant women about the likely risks of incontinence in order that they may make an informed choice about delivery method.
However, across Europe there are efforts to reduce caesarean section rates, and establishing such a screening programme during pregnancy may run against current political objectives in many maternity care systems. It provides important insight into the biological mechanisms for incontinence and suggests the potential of identifying women at risk. Dr Eran Elhaik, Assistant Professor of Animal and Plant Sciences at the University of Sheffield, Sheffield, UK, will say that new technologies are enabling scientists to track the origins and migrations of populations with increasing accuracy.
Until recently, assumptions about origins were based on where people were buried. Using a recently-developed technology, the ancient Geographic Population Structure aGPS tool, the researchers were able to find the geographical origins of ancient DNA, with the only limitation being the availability of DNA data. This in turn enabled them to combine hundreds of snap shots from the past into a reconstruction of modern history from 12, BC to the modern era.
What caused a particular group of people to make a journey of over km at a time when travel was complicated and dangerous? For example, is a specific decoration indicative of an alien culture, or simply an import? There are endless challenges in this research. The scientists demonstrate that information in ancient DNA samples, even of low quality, can be used to provide a very precise geographical localisation of the origin of a person. Researchers have now shown that having a higher BMI can cause worse cardiovascular health in those aged as young as 17, according to a study to be presented to the annual conference of the European Society of Human Genetics today Sunday.
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The researchers hypothesised that cardiovascular risk due to increased BMI was likely to emerge in earlier life. The design of existing observational studies those just looking for associations in the population have meant that they are unable to make a distinction between correlation and causation. A thickening of the left ventricle in the heart hypertrophy means that it has to work harder to pump blood and is a common marker for heart disease. Higher BMI did not appear to have an effect on heart rate in these young adults, although previous studies have shown an association - most likely due to bias caused by the mixing of effects of an additional factor resulting in a distortion of the true relationship confounding.
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The results support efforts to tackle the obesity epidemic from an early age in order to prevent the development of cardiovascular changes known to be precursors of cardiovascular ill-health and disease. The researchers are now trying to untangle the relationship between higher BMI and disease mechanisms including metabolomics the study of the chemical processes involved in the functioning of cells and the abundance and diversity of microbes living in the gut - the gut microbiome.
We hope to further explore these associations within an older population - the UK birth cohort. Modern genomics allows us to detect causality more quickly and cheaply, and the availability of large quantities of genetic data means that we can overcome the limitations of observational epidemiological studies. In this study, statistical genetics approaches were applied to longitudinal cohorts from the UK to improve this.
The scientists could demonstrate that obesity also causes poorer cardiovascular health in young adults. In contrast, higher BMI did not seem affect heart rate in this group. Ms Sari Lieberman, a genetic counsellor at the Shaare Zedek Medical Centre, Jerusalem, Israel, will tell the annual conference of the European Society of Human Genetics tomorrow Sunday that offering open-access BRCA testing to Ashkenazi women unaffected by cancer, regardless of their family history, enables the identification of carriers who would otherwise have been missed.
The researchers streamlined the pre-test process so that traditional genetic counselling, which can be time-consuming and difficult, was excluded. Instead they provided written information about the BRCA genes, the genetic test, and about the implications of being a carrier. Two-year follow up of the women tested included looking at psychosocial outcomes and health behaviours. Those who had referred themselves tended to be more knowledgeable about breast cancer issues than those who were recruited.
Their stress was understandably higher, but it declined over time, and their knowledge was greater than in non-carriers. All of them had breast surveillance, and three underwent risk-reducing bilateral mastectomy. The researchers say that their study provides convincing evidence that open access genetic testing overcomes major barriers; not just lack of family history, but also referral and bureaucratic barriers, and that it is acceptable to those likely to be affected and their families.
We also worried that being found not to be a carrier might provide false reassurance and cause women to think they had no cancer risk and therefore avoid standard surveillance. In fact, mammography screening rates did not decline post-test in non-carriers, and even increased in some. Falling prices for genetic sequencing and new techniques to avoid evaluating irrelevant gene variants will most likely make mutation screening available to wider populations in the near future. The study also showed that most people cope very well with this genetic information; carriers of these mutations undertake breast cancer surveillance, whereas non-carriers are aware they can still develop breast cancer.
However, along with its usefulness comes concern about how others, such as employers and insurers, can have access to and use its results. This in turn leads to the risk that individuals may avoid medically recommended genetic testing, or participation in genetic research, if they fear that they may be discriminated against based on their results.
In Australia, private life insurers are permitted to use genetic test results when setting insurance rates and deciding whether or not to accept an application. Although they are only allowed to use test results based on actuarial or statistical data, they are free to use their own judgements as to which tests meet these requirements. In Canada, while life insurers are currently allowed to use genetic test results, the Parliament recently passed legislation that would prohibit them from doing so when drawing up insurance contracts.
But in Canada insurance regulation comes under the jurisdiction of the provinces, so there is some doubt as to whether this ban is constitutional.
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The legislation is currently under judicial review. Of the three countries studied, the United Kingdom had the most comprehensive protection against insurer use of genetic information. However, discussions with insurers in Australia and Canada showed that they felt that to lose access to genetic test results would have a drastic effect on their industry, and could threaten financial collapse. Unsurprisingly, individuals in those countries were much more likely to fear discrimination as a result of genetic testing than those interviewed in the UK.
Ms Prince has now widened the scope of her study to include Sweden, where insurers are barred from taking genetic test results into consideration. Personally, I think that a two-tier system, as implemented in the UK, creates an appropriate balance. However, a major question remains. Are genetic test results relevant to insurance underwriting? These include the environment, the likelihood of developing symptoms if someone has a genetic mutation called the penetrance , the variation in signs and symptoms that can occur among people with the same condition, and how easy it is to minimise risks in individuals.
It is therefore important to evaluate who may or may not have access to these data and for what purpose, and make sure we develop common rules that can be internationally applied and upheld. This work provides an important analysis of the way different countries deal with this. It points to considerable differences that need to be addressed with all stakeholders involved. The law as originally proposed was disproportionate and likely to be ineffectual in tackling the problem of terrorism, and would have had negative consequences not just for Kuwaiti society, but also for medical science and research.
The law will also apply to tourists and visiting scientists, and will impose a one year.
This makes Kuwait the first country in the world to legislate for the mandatory collection of human DNA samples.