genetic testing

People with a rare eye disease known as retinitis pigmentosa (RP) suffer a gradual loss of vision; some become completely blind. Now, an innovative new approach to treatment has given dozens of people the chance to see again. With the help of a retinal implant, special glasses and intensive training, people who were blind have a new way of viewing the world which could one day benefit people with other degenerative eye diseases. We spoke to Professor Marie-Noelle Delyfer, University Hospital of Bordeaux, who has already performed eight such operations. What is retinitis pigmentosa (RP) and what is the prognosis for patients? RP is actually around 300 distinct genetic disorders that lead to the loss of photoreceptors on the retina. Some affected individuals have a reduction in their visual field while others become blind. With such a rare disease, it is difficult to describe a typical patient. Some lose their sight early in life or in early adulthood but there are others who become blind only in their 70s or 80s. Until 20 years ago, there were no treatments at all and the disease was not well understood. The first genetic cause of the disease was identified in 1984 – before that it was thought of as an inflammatory disease. What treatments are available? Some pharmaceutical therapies help to maintain photoreceptors but this only slows the progression of the disease – it’s not a cure. In the longer-term, there is some research on gene therapy targeting the mutations responsible for RP. How can technology help? I have used a new technology, from SecondSight, with eight carefully selected patients living with end-stage RP. These patients have an electrode array implanted in their retina. They wear glasses that are fitted with a camera that ‘sees’ their surrounding environment. This signal is sent...
The argument has raged for some time and shows no sign of abating any time soon: screening for diseases, yes or no? Take the case of prostate cancer screening: Richard Ablin - the author of “The Great Prostate Hoax”, and the man who claims to be the first to have identified PSA (a protein created by the walnut-sized prostate gland that can easily be measured) - maintains that PSA testing can do, and often does, more harm than good. Ablin, of the University of Arizona, has noted that a man’s PSA levels may be high but that doesn’t mean that he has cancer. On the reverse side of the coin, a low PSA level doesn’t necessary mean that a potential patient’s worries are over in this regard.Yet the fact remains that around one-in-three men aged from 40-60 has traces of prostate cancer, and the risk rises with ageing. So all men should be regularly tested, right? Well, not necessarily… Ablin and others argue that over-testing can very easily lead to over-treatment, including unnecessary invasive surgery to remove the prostate gland. The over-treatment argument has also been used in respect of breast cancer screening, although the figures tend to show that it works very well in a preventative sense and even better in detecting early breast cancer in target age groups. Yet over-treatment is clearly an issue, with many women (plus those aforementioned men with early ‘signs’ of prostate cancer) simply wanting all traces of the disease, or potential disease, removed right away, regardless of the potential cost to them personally or, indeed, fiscally to society in general. So over-treatment is clearly something that cannot be side-stepped. The counter-arguments - and they are very strong ones - is that our ‘social contract’ has obligations to ensure the highest standards possible regarding...
Almost one-third of California women with ovarian cancer survive at least 10 years after diagnosis. The findings upend the notion that women diagnosed with cancer of the ovary always face a poor chance of survival. In fact, while the study confirmed earlier findings on characteristics associated with ovarian cancer survival—younger age, earlier stage, and lower grade tumors at diagnosis—it also identified a surprising number of long-term survivors who didn’t meet those criteria. “The perception that almost all women will die of this disease is not correct,” says Rosemary Cress, an epidemiologist and associate adjunct professor at University of California, Davis and lead author of a new paper published online in the journal Obstetrics and Gynecology . “This information will be helpful to physicians who first diagnose these patients and the obstetricians/gynecologists who take care of them after they receive treatment from specialists.” LONG-TERM SURVIVORS For the study, researchers used the California Cancer Registry to analyze data reported on all California residents diagnosed with epithelial ovarian cancer between 1994 and 2001. Epithelial ovarian cancer is the most common type of ovarian cancer, occurring in nine out of 10 cases. Of the 11,541 patients in the registry database, 3,582 (31 percent) survived more than 10 years. This was the first time that research has looked at 10-year trajectories for patients; most survival studies have looked only at 5-year survival or less. As expected, the study shows that the majority of the long-term survivors were younger, had early-stage disease when they were diagnosed, and their tumors were of a lower-risk tissue type. But what struck the researchers was that of the 3,582 long-term survivors, 954 of them had been considered to be at high risk of dying from their disease, either because of their tumor stage, grade, or older age at diagnosis. ONE...
The evolution of past and modern therapies in breast cancer has been an inspiring illustration of the progress that has been made towards cancer cures. Breast cancer makes up a quarter of new cases worldwide and is the most common cancer in women . While the number of people with breast cancer has been increasing fewer people are dying from the disease, potentially because of better screening and diagnosis at an early and more curable stage. Thanks to better treatments, more people are also surviving five years after diagnosis, but this wouldn’t be possible with the strides that have been made in understanding breast cancer at a molecular level. Breast cancer was long considered as a tumour with an underlying relationship with oestrogen. Instead, driven by a greater understanding of the molecular basis of breast cancers, we now see a more complex picture. We now know breast cancer to be an umbrella of different diseases – as many as ten different types – with a number of subtypes. And although a number of factors can contribute towards developing breast cancer, there is no single agent or cause. A closer look at cancer detection, molecular biology and progression is telling us more about the underlying factors in breast cancer development and spread. No one breast cancer Despite the uncertainties of what exactly causes breast cancer, there is abundant evidence for hormonal and reproductive factors . A number of environmental factors may also lead to mutations in DNA, such as exposure to radiations, chemicals and alcohol. However not all of the mutations are environmentally induced – some occur spontaneously. Other factors that increase risk of developing breast cancers are age, gender, family history and certain medical conditions. A wide range of genes and proteins may contribute towards the development of breast cancer...
When the European Parliament finalised their amendments for the Proposal for a Regulation on in vitro diagnostic medical devices in October 2013, they set the scene for a process that has continued through several Council Presidencies. The continued discussions are a reflection of the complexity of the file and the need for careful consideration of the technical aspects of the text, which should lead to the creation of a positive environment for innovation, safety and patient access across Europe.
A rise in the spread of new diseases, such as Ebola, and the resurgence of diseases that were once considered under control, like malaria, have captured the world’s attention and raised awareness of the risks of infectious disease. Add to this the growing problem of antimicrobial resistance caused by the use and misuse of antimicrobials over the past 70 years, and it is clear that there is an urgent need for the development of new diagnostics and medicines that address the way critical infections are diagnosed and treated.