Finding a new balance between a genetics-first or phenotype-first approach to the study of disease

Neuron. 2021 Jul 21;109(14):2216-2219. doi: 10.1016/j.neuron.2021.07.001.


Successes in neuroscience using a genetics-first approach to characterizing disorders such as autism have eclipsed the scientific and clinical value of a comprehensive phenotype-first-clinical or molecular-approach. Recent high-throughput phenotyping techniques using machine learning, electronic medical records, and even administrative databases show the value of a synthesis between the two approaches.

Keywords: autism; electronic health record; endophenotypes; genetics-first; phenome-wide study; phenotyping; real-world data.

MeSH terms

  • Autistic Disorder / diagnosis*
  • Autistic Disorder / genetics
  • Electronic Health Records
  • Genotype*
  • Humans
  • Phenotype*