The IGNITE network: a model for genomic medicine implementation and research.

BACKGROUND: Patients, clinicians, researchers and payers are seeking to understand the value of using genomic information (as reflected by genotyping, sequencing, family history or other data) to inform clinical decision-making. However, challenges exist to widespread clinical implementation of genomic medicine, a prerequisite for developing evidence of its real-world utility. METHODS: To address these challenges, the National Institutes of Health-funded IGNITE (Implementing GeNomics In pracTicE; www.ignite-genomics.org ) Network, comprised of six projects and a coordinating center, was established in 2013 to support the development, investigation and dissemination of genomic medicine practice models that seamlessly integrate genomic data into the electronic health record and that deploy tools for point of care decision making. IGNITE site projects are aligned in their purpose of testing these models, but individual projects vary in scope and design, including exploring genetic markers for disease risk prediction and prevention, developing tools for using family history data, incorporating pharmacogenomic data into clinical care, refining disease diagnosis using sequence-based mutation discovery, and creating novel educational approaches. RESULTS: This paper describes the IGNITE Network and member projects, including network structure, collaborative initiatives, clinical decision support strategies, methods for return of genomic test results, and educational initiatives for patients and providers. Clinical and outcomes data from individual sites and network-wide projects are anticipated to begin being published over the next few years. CONCLUSIONS: The IGNITE Network is an innovative series of projects and pilot demonstrations aiming to enhance translation of validated actionable genomic information into clinical settings and develop and use measures of outcome in response to genome-based clinical interventions using a pragmatic framework to provide early data and proofs of concept on the utility of these interventions. Through these efforts and collaboration with other stakeholders, IGNITE is poised to have a significant impact on the acceleration of genomic information into medical practice.

[Book review] "Memory and Suggestibility in the Forensic Interview"

Book review of: Eisen, M.L., Quas, J.A. & Goodman, G.S. (Eds.) (2002). Memory and suggestibility in the forensic interview. Mahwah, NJ: Lawrence Erlbaum Associates. ISBN: 0-8058-3080-4/$55.00 Special Prepaid Price

Elemental analysis of soil samples for forensic purposes by inductively coupled plasma spectrometry - precision considerations

Major and trace elemental composition provides a powerful basis for forensic comparison of soils, sediments and rocks. However, it is important that the potential 'errors' associated with the procedures are fully understood and quantified, and that standard protocols are applied for sample preparation and analysis. This paper describes such a standard procedure and reports results both for instrumental measurement precision (repeatability) and overall 'method' precision (reproducibility). Results obtained both for certified reference materials and example soils show that the instrumental measurement precision (defined by the coefficient of variation, CV) for most elements is better than 2-3%. When different solutions were prepared from the same sample powder, and from different sub-sample powders prepared from the same parent sample, the CV increased to c. 5-6% for many elements. The largest variation was found in results for certified reference materials generated from 23 instrument runs over an 18 month period (mean CV=c. 11%). Some elements were more variable than others. W was found to be the most variable and the elements V, Cr, Co, Cu, Ni and Pb also showed higher than average variability. SiO2, CaO, Al2O3 and Fe2O3, Rb, Sr, La, Ce, Nd and Sm generally showed lower than average variability, and therefore provided the most reliable basis for inter-sample comparison. It is recommended that, whenever possible, samples relating to the same investigation should be analysed in the same sample run, or at least sequential runs.

Searching for the IRA 'disappeared': Ground-penetrating radar investigation of a churchyard burial site, Northern Ireland

A search for the body of a victim of terrorist abduction and murder was made in a graveyard on the periphery of a major conurbation in Northern Ireland. The area is politically sensitive and the case of high profile. This required non-invasive, completely non-destructive and rapid assessment of the scene. A MALA RAMAC ground-penetrating radar system was used to achieve these objectives. Unprocessed and processed 400MHz data shows the presence of a collapse feature above and around a known 1970s burial with no similar collapse above the suspect location. In the saturated, clay-rich sediments of the site, 200MHz data offered no advantage over 400MHz data. Unprocessed 100MHz data shows a series of multiples in the known burial with no similar features in the suspect location. Processed 100MHz lines defined the shape of the collapse around the known burial to 2m depth, together with the geometry of the platform (1m depth) the gravedigger used in the 1970s to construct the site. In addition, processed 100MHz data showed both the dielectric contrast in and internal reflection geometry of the soil imported above the known grave. Thus the sequence, geometry, difference in infill and infill direction of the grave was reconstructed 30 years after burial. The suspect site showed no evidence of shallow or deep inhumation. Subsequently, the missing person������¢���¯���¿���½���¯���¿���½s body was found some distance from this site, vindicating the results and interpretation from ground-penetrating radar. The acquisition, processing, collapse feature and sequence stratigraphic interpretation of the known burial and empty (suspect) burial site may be useful proxies for other, similar investigations. GPR was used to evaluate this site within 3 hours of the survey commencing, using unprocessed data. An additional day of processing established that the suspect body did not reside here, which was counter to police and community intelligence.

Components of the peptidome and transcriptome persist in lin wa pi: the dried skin of the Heilongjiang brown frog Rana amurensis as used in Traditional Chinese Medicine

Although the ancient practice of traditional Chinese medicine (TCM) utilizes predominantly herbal ingredients, many of which are now the subject of intense scientific scrutiny, significant quantities of animal tissue-derived materials are also employed. Here we have used contemporary molecular techniques to study the material known as lin wa pi, the dried skin of the Heilongjiang brown frog, Rana amurensis, that is used commonly as an ingredient of many medicines, as a general tonic and as a topical antimicrobial/wound dressing. Using a simple technology that has been developed and validated over several years, we have demonstrated that components of both the skin granular gland peptidome and transcriptome persist in this material. Interrogation of the cDNA library constructed from the dried skin by entrapment and amplification of polyadenylated mRNA, using a "shotgun" primer approach and 3'-RACE, resulted in the cloning of cDNAs encoding the precursors of five putative antimicrobial peptides. Two (ranatuerin-2AMa and ranatuerin-2AMb) were obvious homologs of a previously described frog skin peptide family, whereas the remaining three were of sufficient structural novelty to be named amurins 1-3. Mature peptides were each identified in reverse phase HPLC fractions of boiling water extracts of skin and their structures confirmed by MS/MS fragmentation sequencing. Components of traditional Chinese medicines of animal tissue origin may thus contain biologically active peptides that survive the preparation procedures and that may contribute to therapeutic efficacy.