El genoma humano y el desarrollo de la genética forense / The human genome and the development of forensic genetics

El objetivo de este artículo es introducir al médico generalista en los adelantos científicos y técnicos de la genética forense. A partir de los trabajos de Mendel en 1865 sobre hibridación en las plantas se sucedieron avances en el conocimiento del ADN y se incorporaron nuevas técnicas de laboratorio, que permitieron detectar en el ADN un sector no codificante. El conocimiento de este sector junto con los adelantos de informática (software) han permitido progresos innovadores en el desarrollo de las técnicas de identificación forense, logrando que la Genética Forense se convierta en un auxiliar de la justicia para la resolución de casos de filiación, el reconocimiento de restos humanos y el descubrimiento de responsables de crímenes a través de la identificación de ADN encontrado en la escena. (AU)

The objective of this article is to introduce the general practitioner to the scientific and technical advances of forensic genetics. From the work of Mendel in 1865 on hybridization in plants, advances were made in the knowledge of DNA and new laboratory techniques were incorporated, which made it possible to detect a non-coding sector in DNA. Knowledge of this sector together with the advances in computer science (software) have allowed innovative progress in the development of forensic identification techniques, making Forensic Genetics an auxiliary of justice, for the resolution of filiation cases, the recognition of human remains and the discover of the person responsible for the crimes through the identification of their DNA found at the scene of a crime. (AU)

Individualized fracture risk assessment: State-of-the-art and room for improvement

Fragility fracture is a serious clinical event, because it is associated with increased risk of mortality and reduced quality of life. The risk of fracture is determined by multiple risk factors, and their effects may be interactional. Over the past 10 years, a number of predictive models (e.g., FRAX, Garvan Fracture Risk Calculator, and Qfracture) have been developed for individualized assessment of fracture risk. These models use different risk profiles to estimate the probability of fracture over 5- and 10-year period. The ability of these models to discriminate between those individuals who will and will not have a fracture (i.e., area under the receiver operating characteristic curve [AUC]) is generally acceptable-to-good (AUC, 0.6 to 0.8), and is highly variable between populations. The calibration of existing models is poor, particularly in Asian populations. There is a strong need for the development and validation of new prediction models based on Asian data for Asian populations. We propose approaches to improve the accuracy of existing predictive models by incorporating new markers such as genetic factors, bone turnover markers, trabecular bone score, and time-variant factors. New and more refined models for individualized fracture risk assessment will help identify those most likely to sustain a fracture, those most likely to benefit from treatment, and encouraging them to modify their risk profile to decrease risk.