Project Details Properties and units in clinical molecular biology and genetics - supplement

Project No.:
2013-009-5-700
Start Date:
01 September 2013
End Date:
31 March 2019
Division Name:
Chemistry and Human Health Division
Division No.:
700

Objective

Series: Properties and units in the clinical laboratory sciences (https://iupac.org/publications/pac/series/clinlabsci/)

In 2004 the first publication in this field of clinical laboratory science was issued: “Properties and units in the clinical laboratory sciences. Part XVIII. Properties and units in clinical molecular biology (IUPAC Technical Report)”, Pure Appl. Chem., 2004, Vol. 76, No. 9, pp. 1799-1807; https://dx.doi.org/10.1351/pac200476091799

Since then the field of medical molecular biology has developed rapidly, and many new kinds of properties not mentioned in the 2004 publication are routinely estimated today. The NPU terminology lacks structured definitions of these new kinds of properties.

The project intends to produce semantic models for structured definitions of these new kinds of properties, and demonstrate their validity by examples.

Description

IFCC and IUPAC have cooperated for decades on producing, updating and expanding recommendations on the presentation of properties and their values in clinical laboratory sciences. This project will continue the work published in 2004 in the field of clinical molecular biology, expanding the framework of semantic models to enable definition of new properties relating to e.g. translocations and fusions of genes, imprinting, DNA rearrangement, and results of microarray examinations combining information on many individual genes.

The task group of specialists in both terminology and clinical molecular biology will investigate and classify newer types of examinations and results in the field, work out semantic models in accordance with the NPU syntax and semantic rules, and demonstrate them in the form of formal NPU definitions.

Progress

May 2014 – Project announcement published in Chem. Int. May-June 2014, p. 17; DOI: 10.1515/ci.2014.36.3.14b

May 2017 update – The field of medical molecular biology has developed rapidly, and many new kinds of properties are routinely estimated today, as definition of new properties relating to e.g. translocations and fusions of genes, imprinting, DNA rearrangement, and results of microarray in Exons and Introns examinations combining information on many individual genes. New technology has enabled investigation of these and many more new properties in the field of clinical molecular genetics. For investigation of these results to continually be identified and communicated safely, new models for result definitions are developed in step with recent development in the field.

The project progress has been delayed, in part because the field of molecular biology and its technology is developing extremely fast, causing continuous changes to both concepts and terminology, and enabling investigation of quite new patient properties. The project will be discussed in June 2017 in the IFCC-IUPAC (Sub)Committee on Nomenclature for Properties and Units.

July 2018 update – IUPAC technical report published in PAC: Petersen, U., Padró-Miquel, A., Taylor, G., et al. (2018). Properties and units in the clinical laboratory sciences part XXIV. Properties and units in clinical molecular genetics (IUPAC Technical Report). Pure and Applied Chemistry, 90(7), pp. 1199-1220; https://doi.org/10.1515/pac-2017-1008

project completed

Page last updated 6 July 2018