Diagnostic applications of next generation sequencing: working towards quality standards

Over the past 6 years, next generation sequencing (NGS) has been established as a valuable high-throughput method for research in molecular genetics and has successfully been employed in the identification of rare and common genetic variations. All major NGS technology companies providing commercially available instruments (Roche 454, Illumina, Life Technologies) have recently marketed bench top sequencing instruments with lower throughput and shorter run times, thereby broadening the applications of NGS and opening the technology to the potential use for clinical diagnostics. Although the high expectations regarding the discovery of new diagnostic targets and an overall reduction of cost have been achieved, technological challenges in instrument handling, robustness of the chemistry and data analysis need to be overcome. To facilitate the implementation of NGS as a routine method in molecular diagnostics, consistent quality standards need to be developed. Here the authors give an overview of the current standards in protocols and workflows and discuss possible approaches to define quality criteria for NGS in molecular genetic diagnostics

Anatomically Constrained Video-CT Registration via the V-IMLOP Algorithm

Functional endoscopic sinus surgery (FESS) is a surgical procedure used to treat acute cases of sinusitis and other sinus diseases. FESS is fast becoming the preferred choice of treatment due to its minimally invasive nature. However, due to the limited field of view of the endoscope, surgeons rely on navigation systems to guide them within the nasal cavity. State of the art navigation systems report registration accuracy of over 1mm, which is large compared to the size of the nasal airways. We present an anatomically constrained video-CT registration algorithm that incorporates multiple video features. Our algorithm is robust in the presence of outliers. We also test our algorithm on simulated and in-vivo data, and test its accuracy against degrading initializations.Comment: 8 pages, 4 figures, MICCA

Translating coverage gains into health gains for all women and children : the quality care opportunity

Peer reviewedPublisher PD

Stereotactic radiosurgery for vestibular schwannomas.

Stereotactic radiosurgery (SRS) maintains an important role in managing vestibular schwannoma (VS). Long-term clinical data have clearly established the safety and efficacy of the procedure for managing Koos low grade to intermediate grade VS. Historically, the procedure was developed via a multidisciplinary approach that involves physicians (eg, neurosurgeons and radiation oncologists) as well as clinical specialists (eg, radiation physicists). In this paper, we have reviewed current technical and clinical practices of SRS for VS from a procedural specialist's perspective and from a clinician's perspective

Health Care Opinion Leaders' Views on Delivery System Innovation and Improvement

Presents survey results on healthcare experts' views on strategies and models for fostering coordination and integration, such as accountable care systems, medical homes, and bundled payments; priorities among reform provisions; and market concerns

Optical techniques for 3D surface reconstruction in computer-assisted laparoscopic surgery

One of the main challenges for computer-assisted surgery (CAS) is to determine the intra-opera- tive morphology and motion of soft-tissues. This information is prerequisite to the registration of multi-modal patient-specific data for enhancing the surgeon’s navigation capabilites by observ- ing beyond exposed tissue surfaces and for providing intelligent control of robotic-assisted in- struments. In minimally invasive surgery (MIS), optical techniques are an increasingly attractive approach for in vivo 3D reconstruction of the soft-tissue surface geometry. This paper reviews the state-of-the-art methods for optical intra-operative 3D reconstruction in laparoscopic surgery and discusses the technical challenges and future perspectives towards clinical translation. With the recent paradigm shift of surgical practice towards MIS and new developments in 3D opti- cal imaging, this is a timely discussion about technologies that could facilitate complex CAS procedures in dynamic and deformable anatomical regions

Nonrigid reconstruction of 3D breast surfaces with a low-cost RGBD camera for surgical planning and aesthetic evaluation

Accounting for 26% of all new cancer cases worldwide, breast cancer remains the most common form of cancer in women. Although early breast cancer has a favourable long-term prognosis, roughly a third of patients suffer from a suboptimal aesthetic outcome despite breast conserving cancer treatment. Clinical-quality 3D modelling of the breast surface therefore assumes an increasingly important role in advancing treatment planning, prediction and evaluation of breast cosmesis. Yet, existing 3D torso scanners are expensive and either infrastructure-heavy or subject to motion artefacts. In this paper we employ a single consumer-grade RGBD camera with an ICP-based registration approach to jointly align all points from a sequence of depth images non-rigidly. Subtle body deformation due to postural sway and respiration is successfully mitigated leading to a higher geometric accuracy through regularised locally affine transformations. We present results from 6 clinical cases where our method compares well with the gold standard and outperforms a previous approach. We show that our method produces better reconstructions qualitatively by visual assessment and quantitatively by consistently obtaining lower landmark error scores and yielding more accurate breast volume estimates