PerkinElmer, FDNA team up on AI-enhanced genetic testing

2019 05 21 17 18 9591 Scientist Woman Dna 400

Artificial intelligence (AI) specialist FDNA and PerkinElmer Genomics are launching Face2Gene Labs, a product that will offer genetic testing enhanced by FDNA's next-generation phenotyping (NGP) technologies across a multinational network of laboratories.

The plan is to marry NGP, which enables the collection and rapid analysis of phenotypic and genotypic data -- including facial analysis -- for use in genomic profiling, with PerkinElmer's testing and laboratory services. PerkinElmer Genomics has two CLIA labs in the U.S., with services including newborn screening and biochemical profiling, as well as integrated labs in India, Malaysia, and China. The lab network focuses heavily on newborn screening and the detection of rare genetic diseases.

PerkinElmer said in a statement that the NGP technologies will be embedded into its lab ordering and variant analysis workflows, with the goal of improving molecular analysis capabilities and also cost-efficiency. FDNA brings to the table phenotypic and genotypic data for more than 10,000 diseases based on the analysis of information from 150,000 people worldwide.

The use of FDNA's deep learning-based facial analysis platform to identify disease syndromes was outlined in an article by the company's chief technology officer, Yaron Gurovich, and colleagues published earlier this year (Nature Medicine, January 2019, Vol. 25, pp. 60-64).

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