DNA phenotyping

DNA phenotyping (fee-no-type-ing) is the process of predicting an organism’s phenotype using only genetic information collected from genotyping or DNA sequencing. This term, also known as molecular photofitting, is primarily used to refer to the prediction of a person’s physical appearance and/or biogeographic ancestry for forensic purposes.

DNA phenotyping uses many of the same scientific methods as those being used for genetically-informed personalized medicine, in which drug responsiveness (pharmacogenomics) and medical outcomes are predicted from a patient’s genetic information. Significant genetic variants associated with a particular trait are discovered using a genome-wide association study (GWAS) approach, in which hundreds of thousands or millions of single-nucleotide polymorphisms (SNPs) are tested for their association with each trait of interest. Predictive modeling is then used to build a mathematical model for making trait predictions about new subjects.

Biogeographic ancestry determination methods have been highly developed within the genetics community, as it is a key GWAS quality control step. These approaches typically use genome-wide human genetic clustering and/or principal component analysis to compare new subjects to curated individuals with known ancestry, such as the International HapMap Project or the 1000 Genomes Project. Another approach is to assay ancestry informative markers (AIMs), SNPs that vary in frequency between the major human populations.

Beginning in 2009, academic groups developed and reported on predictive models for eye color and, more recently, hair color in the European population. More recently, companies such as Parabon NanoLabs and Identitas have begun offering forensic DNA phenotyping services for U.S. and international law enforcement.

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