BD Diagnostics and the College of American Pathologists (CAP) have announced the launch of a new strategic alliance that will provide solutions to advance laboratory quality for improved patient outcomes in China and India. BD and CAP announced the collaboration during the American Association for Clinical Chemistry (AACC) Annual Meeting in Houston, Texas.

Laboratories play a critical role in the diagnosis and treatment of disease for the more than 2.5 billion people who live in China and India. The BD/CAP Strategic Alliance will improve access to external quality assurance/proficiency testing (PT) that can have a direct and positive impact on laboratory quality, and therefore, patient outcomes. Together BD and CAP will provide education to improve awareness of global practice standards and training that will help laboratories achieve their quality improvement goals. Additionally, BD will manage PT distribution, including sales, shipping, and first-line client service.

“The clinical laboratory and pathology contribute more than 70 percent of the information used to determine diagnoses and drive treatment decisions,” said CAP President Stanley J. Robboy, MD, FCAP. “CAP has all of the tools necessary to help laboratories improve and monitor efforts that drive quality performance. This strategic alliance with BD will increase access to these essential resources, helping laboratories accelerate their quality improvement journey so that they can contribute to better quality care, differentiate themselves and their institutions, and be recognized globally among the best providers of laboratory and pathology services.”

CAP’s Laboratory Accreditation, Surveys, PT programmes, and other quality management resources combined with BD’s in-depth clinical knowledge of preanalytical systems provide a comprehensive, expert-based toolkit to help laboratories in China and India continuously improve the quality of the testing services they provide to patients. Through participation in CAP accreditation, laboratories in China and India can demonstrate their compliance to the most robust and comprehensive clinical laboratory testing standards in the world.
Having operated in China since 1994 and in India since 1996 supporting public and private sector partners in enhancing laboratory standards, BD has extensive experience in deploying clinical expertise and educational resources in these regions, as well as a deep understanding of the unique needs of laboratories throughout these countries. Today in China, there are 18 CAP-accredited laboratories and nearly 100 laboratories participating in PT. In India, of the 71 laboratories participating in CAP PT, 42 have achieved CAP accreditation. BD’s access and logistics experience will support CAP PT importation and ensure more timely delivery and quality, reduce participants’ administrative work, and allow billing in local currency. Market launch of this initiative will begin in China and India in August 2013 with PT distribution initiated in January 2014.

Diagnostica Stago S.A.S, a privately held company that provides reference tests and instrumentation in hemostasis, announced that the company has entered a joint research agreement with Bristol-Myers Squibb Company (BMY) to develop an assay for measuring the circulating blood concentration of the oral Factor Xa inhibitor ELIQUIS (apixaban). No commercial assay is presently available to specifically measure apixaban plasma concentration. Terms of the agreement were not disclosed.

“Stago is pleased to have the opportunity to develop this test”, said Tristan Herve, Director of Pharmaceutical Development, “These oral Factor Xa inhibitors address an important unmet need for patients requiring anticoagulant therapy”.

Stago has already completed prototype development and will be applying for health authority approvals of the assay worldwide. Diagnostica Stago retains 100 percent global development and commercialization rights for the assay.

Australian researchers have demonstrated a strong association between the FTO (fat and obesity) gene and hip fracture in women. While the gene is already well known to affect diabetes and body fat, this is the first study to show that its high-risk variant can increase the risk of hip fracture by as much as 82%.
The study, undertaken by Dr Bich Tran and Professor Tuan Nguyen from Sydney’s Garvan Institute of Medical Research, examined six gene variants (single nucleotide polymorphisms, or SNPs) of the FTO gene, taken from the DNA of 943 women in the Dubbo Osteoporosis Epidemiology Study (DOES). The women were all over 60, and their bone health was followed between 1989 and 2007. During that period, 102 women had hip fractures.
On average, the risk of fracture is about 11%. The study showed that if a woman has a low-risk genotype, or gene variant, the risk of fracture is 10%. If she has a high-risk genotype, it is 16%.
The authors believe that the findings have the potential to improve prediction of hip fracture. Known risk factors, also to be taken into account, include advancing age, falls, history of fracture, low bone mineral density, low body mass index (BMI) and genetic make-up.
‘We found that for a woman of the same age and same clinical risk factors, those with the high-risk genotype have an increased risk of fracture of 82% – a very high effect in genetic terms,’ said Professor Tuan Nguyen.
‘A genome-wide association study published in 2007 suggested that genetic variants in the FTO gene were associated with variation in BMI. This led us to hypothesise that they might also be associated with variation in hip fracture risk.’
‘The present study tested our hypothesis by examining the association between common variants in the FTO gene and hip fracture.’
‘Our results showed a strong association with hip fracture, with some gene variants doubling the risk of fracture. Interestingly, this was independent of both the bone density and BMI of the women we studied.’
‘We also found that the FTO gene expresses in bone cells, and may have something to do with bone turnover, or remodelling, although its exact mechanisms are unclear.’
‘It’s important to emphasise that, while promising, our finding is a first step. It will need to be replicated in other studies, and its mechanisms clearly understood before it is useful in drug development.’ Garvan Institute of Medical Research

The human papillomavirus (HPV) may be to blame for the alarming increase of young adults with oropharyngeal cancer, according to researchers from Henry Ford Hospital in Detroit.

The study reveals an overall 60 percent increase from 1973 and 2009 in cancers of the base of tongue, tonsils, soft palate and pharynx in people younger than age 45.

Among Caucasians, there was a 113 percent increase, while among African-Americans the rate of these cancers declined by 52 percent during that period of time.

But compared to Caucasians and other races, the five-year survival rate remains worse for African Americans.

‘The growing incidence in oropharyngeal cancer has been largely attributed to the sexual revolution of the 1960s and 1970s, which led to an increased transmission of high-risk HPV,’ says study lead author Farzan Siddiqui, M.D., Ph.D., director of the Head & Neck Radiation Therapy Program in the Department of Radiation Oncology at Henry Ford Hospital.

‘We were interested in looking at people born during that time period and incidence of oropharyngeal cancer. Not only were we surprised to find a substantial increase in young adults with cancer of the tonsils and base of tongue, but also a wide deviation among Caucasians and African Americans with this cancer.’

The study – which examined the trends in cancers of the base of tongue, tonsils, soft palate and pharynx among people 45 years-old and younger – will be presented Sept. 23 at the 55th Annual Meeting of the American Society for Radiation Oncology (ASTRO) in Atlanta.

The American Cancer Society estimates about 36,000 people in the U.S. will get oral cavity and oropharyngeal cancers in 2013; an estimated 6,850 people will die of these cancers. Oropharyngeal cancers are more than twice as common in men as in women, and about equally common in African Americans and Caucasians.

Recent medical research has shown that HPV exposure and infection increases the risk of oropharyngeal squamous cell cancer independently of tobacco and alcohol use, two other important risk factors for the disease, according to the National Cancer Institute.

The incidence of oropharyngeal cancer has been growing in recent years due to increasing rates of HPV infection. This has been largely attributed to changes in sexual practices. Studies have shown, however, patients with HPV related head and neck cancer do have a better prognosis and survival. Henry Ford Hospital in Detroit

Using powerful genetic sequencing technology, a team of investigators, led by researchers at the Icahn School of Medicine at Mount Sinai, scanned the genome of hundreds of individuals, and discovered those diagnosed with autism spectrum disorder (ASD) were more likely to have gene deletions than were people without the disorder. That means those individuals — seven percent of the study group — had one copy of one or more genes when they should have had two.
‘This is the first finding that small deletions impacting one or two genes appear to be common in autism, and that these deletions contribute to risk of development of the disorder,’ says the study’s lead investigator, Joseph D. Buxbaum, PhD, Professor of Psychiatry, Genetics and Genomic Sciences and Neuroscience at the Icahn School of Medicine at Mount Sinai.’This conclusion needs to be expanded in other independent samples of ASD so that we can truly understand how the risk manifests,’ he says.
Autism, which affects about one percent of the population, is a developmental disorder thought to be caused by a complex interplay between genetic and environmental factors. Although the disorder is highly heritable, the majority of autism cases cannot be attributed to known inherited causes, Dr. Buxbaum says.
While research has indicated that there might be as many as 1,000 genes or genomic regions that contribute to ASD, most studies have looked for either single point mutations—a change in a single letter of DNA on a gene—or for large areas of the genome, encompassing many genes, that is altered.
In this study, the researchers looked for small copy number variation—deletion or duplication of genes—between ASD individuals and a ‘control’ population without the disorder.
To conduct the study, they used exome sequencing to look at all 22,000 human genes in the sample set, and analysed that data using the eXome Hidden Markov Model (XHMM) program. Together, the tools are the first that can find single gene-sized deletions or additions in the genome.
‘This gives us the power, for the first time, to run one test from a blood sample and compare it to a reference genome to search for mutations and small copy number variation in patients,’ Dr. Buxbaum says.
They applied this method to analyse a database consisting of 431 ASD cases and 379 matched controls, totalling 811 individuals. They found 803 gene deletions in the ASD group and 583 deletions in the control group, and the ASD population had a greater likelihood of having multiple small deletions.
‘It is now known that imperfect gene copy number is one of the major sources of variability between people. One of the reasons we are different from each other is because of gene additions or deletions which are often inherited,’ he says. ‘But of the extra deletions we see in ASD not all are due to genetic inheritance. Some occur during the development of the egg or sperm, and deletions that develop in this way tend to be associated with the disorder.’
The researchers then examined the deletions they found in the autistic group and found that a significant proportion of them related to autophagy, a key process that keeps cells healthy by replacing membranes and organelles.
‘There is a good reason to believe that autophagy is really important for brain development because the brain produces many more synapses than it needs, and the excess needs to be pruned back,’ Dr. Buxbaum says. ‘Too many, or too few, synapses have the same effect of not making communication work very well. It could mean that some synaptic connections come in too late and may not solidify properly.’
The researchers believe the findings will have clinical significance. ‘Key copy number variations—those that consistently appear in an autistic population—can impact genetic testing,’ Dr. Buxbaum says. Mount Sinai Health System