Journal de recherche médico-légale

Predicting Physical Features and Diseases by DNA Analysis: Current Advances and Future Challenges

Abstract

Caio Cesar Silva de Cerqueira, Virginia Ramallo, Tábita Hünemeier, Soledad de Azevedo, Mirsha Quinto-Sanchéz, Carolina Paschetta, Celia Cintas, Marina González, Lavínia Schüler-Faccini, Maria Cátira Bortolini and Rolando González-José

The 'omics' era and its concomitant technological advances have brought great insight into genetics. One of the most promising fields within human genetics is the prediction of physical traits from analysis of genetic material. Besides the predictive potential of DNA, the traceability of pathogenic agents in the human body through molecular analysis is also a field to be further exploited. In this review, we aim to discuss specific aspects of phenotypic prediction by analysing DNA, with special emphasis on normal variation, and the application of a technology known as ‘Forensic DNA Phenotyping’ (FDP). We also suggest the term ‘Phenotype Informative Markers’ (PIMs) to designate any molecular markers responsible for normal or pathological human phenotypic variation. In addition, we raise some recommendations related to forensic genetics, the molecular diagnosis of human diseases, and the traceability of pathogens in the human body, giving special emphasis to the need for validation of these tests with strict protocols. Some relevant concerns about privacy, ethics, and legality of such predictions have also been discussed. Finally, we look at perspectives on the use of epigenetic tools, and quote some examples of what has been done in this specific field.