The ability of laboratories to produce swift and accurate disease diagnoses is being helped by a raft of new molecular diagnostic technologies and services.
Athena Diagnostics, a subsidiary of Quest Diagnostics, has launched new genetic tests to aid the detection of several rare neurological disorders, including hereditary neuropathy, neuromuscular disease, epilepsy and certain movement disorders.
The tests streamline the diagnostic process by using gene sequencing and bioinformatics to evaluate many clinically-relevant genes with a single blood draw. Test reports provide information to assist clinicians and genetic counsellors in confirming a diagnosis, developing a targeted treatment plan and managing patient care.
The new services include expanded testing for Charcot-Marie-Tooth disease (CMT), a hereditary motor sensory neuropathy for which early accurate diagnosis is critical to ensure patients avoid contra-indicated medications which can worsen symptoms.
They also include DNA sequencing tests for myofibrillar myopathy (MFM), a debilitating disease that can lead to cardiac and respiratory complications, but which is often confused with CMT and other conditions. Athena provides a broad diagnostic menu for MFM that may help physicians identify the disorder, hastening the use of aggressive supportive care that may maximise functional activity and prolong life expectancy.
In addition, the company is offering new tests for hereditary sensory and autonomic neuropathy (HSAN), hereditary neuralgic amyotrophy (HNA), hypokalemic periodic paralysis (HOKPP), limb girdle muscular dystrophy (LGMD), benign familiar infantile epilepsy and familial paroxysmal kinesigenic dyskinesia (FPKD).
"The genetic causes of neurological disorders are sometimes difficult to diagnose without reliable tests that are guided by specific clinical phenotypes," said Joseph J Higgins, medical director for Quest Diagnostics Neurology and Athena Diagnostics. "In addition, overlapping clinical signs and symptoms in certain rare, neurogenetic disorders present a different challenge for physicians. The new test services for evaluating epilepsy and neuromuscular disorders will aid physicians in diagnosing these diseases, some of which may be amenable to treatment, and assist in the diagnosis of other potentially affected family members. The results will also better prepare patients and their families to make informed life decisions based on their health risks."
Advanced biomarkers
Oxford Gene Technology (OGT) has been granted a licence by the Institute of Cancer Research (ICR), London, to further develop and commercialise a new panel of diagnostic and prognostic microRNA biomarkers for prostate cancer.
The agreement follows a three-year collaboration between OGT and the ICR resulting in the joint discovery of the microRNA biomarkers. These markers have wide-ranging potential applications in diagnosis, prognosis, treatment planning and patient monitoring.
Currently, the biomarker prostate-specific antigen (PSA) and a digital rectal examination are used to test for prostate cancer and to determine whether a biopsy is required. However, increasing evidence indicates that PSA may not be an effective screening tool for prostate cancer due to a high false positive rate and an inability to distinguish between more aggressive and indolent cancers.
Unlike current screening techniques, the biomarkers discovered by OGT and the ICR have a specificity of over 90% plus the potential to not only identify prostate cancer but also to assess its aggressiveness. This is important as it will allow treatment to be tailored to specific features of the cancer. At present, a diagnosis of prostate cancer can mean removal of the prostate and chemotherapy; patients with indolent cancer often receive, but do not require, such excessive treatment.
Colin Cooper, professor of cancer genetics at the University of East Anglia, UK, who led the study at the ICR, said: "OGT and the ICR have made significant progress. Prostate cancer is the most common type of cancer in men with over 240,000 new cases diagnosed each year in the USA alone; we need to focus our efforts not only on ensuring accurate diagnosis but also individualised treatment tailored by prognosis."
For its part Bio-Rad Laboratories has launched the new Bio-Plex Pro RBM human, rat, and canine kidney toxicity panels. Developed through a partnership with Myriad RBM, the multiplex immunoassays comprise a set of biomarkers that addresses the need for early detection and characterisation of kidney toxicity and injury during drug development (Fig. 1). [Page Break]
Acute kidney injury (AKI) is a potentially deadly condition frequently caused by kidney damage due to drug exposure, trauma, or blood loss during a medical procedure. In contrast, chronic kidney injury (CKI) results from long-term diseases such as diabetes, high blood pressure, or an inherited syndrome.
Protein biomarkers found in urine can signal early signs of kidney toxicity and injury and may provide additional information about the location and severity of damage. The Bio-Plex Pro RBM assays enable the detection of multiple biomarkers in a single sample, which may reveal damage within hours of kidney injury. This early detection will allow for more efficient drug testing in both preclinical and clinical research settings.
The toxicity panels contain six of the seven markers approved by the FDA and EMEA for use in preclinical kidney toxicity assessment. Included in these panels are several other markers relevant to kidney toxicity and damage research. The assays are offered as kits that include everything needed to run the assay.
"The Bio-Plex Pro RBM kidney toxicity assays will allow preclinical researchers to monitor biomarker profiles that may predict drug toxicity in the clinic," said Chris Linnevers, Bio-Rad's Bio-Plex global product manager. "They also enable clinical researchers to monitor both disease progression and kidney injury during drug trials, which ultimately leads to better-optimised treatment and improved patient care."
Horizon Diagnostics (HDx), a division of Horizon Discovery, has launched its first Quantitative Multiplex DNA reference standard. This standard is the first of its kind and is intended for researchers assessing multiple biomarkers in a single assay, using platforms such as next generation sequencing (NGS).
As multiplex assays and large tumour profiling projects become more common, standardisation will be essential to enable confidence in experimental results.
To date, a significant challenge has been access to reliable, renewable external reference standards. HDx's novel Quantitative Multiplex DNA reference standard directly addresses this need by enabling researchers to quantify a range of detection thresholds for 11 cancer relevant mutations. This is accomplished across complex samples in a single assay in the form of renewable material originating from precisely engineered cell lines.
The reference standard is available today as genomic DNA and will be available in a matched formalin fixed paraffin embedded (FFPE) format later this year.
The mutations were engineered into endogenous loci using Horizon's proprietary genome editing platform GENESIS.
HDx will be actively expanding its list of Multiplex reference standards over the coming months. The company is also open to working with clients seeking to develop custom standards with specific customer-defined genotypes and allelic frequencies.
Meanwhile Quidel Corporation, a leading provider of rapid diagnostic testing solutions and cell-based virology assays, has received 510(k) clearance from the US Food and Drug Administration (FDA) for its Quidel Molecular RSV + hMPV assay for the detection of respiratory syncytial virus (RSV) and human metapneumovirus (hMPV). The assay distinguishes between RSV and hMPV, two different viruses that cause respiratory infections with very similar symptoms.
The FDA's clearance grants Quidel authorisation to market its Quidel Molecular RSV + hMPV assay in the USA. The product launched in Europe in March 2012.
"RSV and hMPV infections are relatively common diseases among children, and the symptoms can be indistinguishable from each other. Often, these infections can mimic flu-like illness, and can cause ambiguity in assigning a course of treatment," said Dr Timothy Stenzel, chief scientific officer of Quidel. "For these reasons, a duplex test such as the RSV + hMPV assay can prove to be very valuable."
The RSV + hMPV assay is Quidel's third molecular PCR assay to receive 510(k) clearance. Quidel previously received FDA clearance for assays for influenza A+B and hMPV. Quidel also received FDA clearance for its C. difficile assay in the AmpliVue format in December last year.
HPV Testapp launched in UK and Ireland
The new Roche cobas HPV Test app for iPad, which provides essential information about cervical cancer, human papilloma virus (HPV) testing and HPV genotypes, is now available free of charge from the App Store.
Produced by Roche's UK and Ireland diagnostics affiliate as an aid to health professionals, the cobas HPV Test app for iPad provides a wealth of information about the role of HPV testing in the cervical screening programme. Topics covered include the link between HPV and cervical cancer, the value of genotyping, and the role of HPV testing in today's cervical screening approaches.
Additionally, there is background to the UK NHS cervical screening programme (CSP) for the triage of women with borderline or low-grade cervical abnormalities across England, and an explanation of how the cobas HPV Test works.
Consultant gynaecologist Dr Sikhar Sircar uses the cobas HPV Test app to train GPs, nursing staff and medical students. "The cobas HPV Test app is very easy to use as a teaching tool and it has saved valuable time in the preparation of educational presentations," he says. "The app provides a wealth of relevant statistics, which are much easier to present in a graphic format."
In addition to making the new app freely available, as part of its commitment to equip healthcare professionals with the supporting information they need, Roche is also running educational HPV master classes around the country.
