PhenX measures for phenotyping rare genetic conditions

Genet Med. 2017 Jul;19(7):834-837. doi: 10.1038/gim.2016.199. Epub 2017 Jan 12.


Introduction: The PhenX Toolkit, an online resource of well-established measures of phenotypes and exposures, now has 16 new measures recommended for assessing rare genetic conditions.

Materials and methods: These measures and their protocols were selected by a working group of domain experts with input from the scientific community.

Results: The measures, which cover life stages from birth through adulthood, include clinical scales, characterization of rare genetic conditions, bioassays, and questionnaires. Most are broadly applicable to rare genetic conditions (e.g., family history, growth charts, bone age, and body proportions). Some protocols (e.g., sweat chloride test) target specific conditions.

Discussion: The rare genetic condition measures complement the existing measures in the PhenX Toolkit that cover anthropometrics, demographics, mental health, and reproductive history. They are directed at research pertaining to common and complex diseases. PhenX measures are publicly available and are recommended to help standardize assessments across a range of biomedical study designs. To facilitate incorporation of measures into human subjects' research, the Toolkit offers data collection worksheets and compatible data dictionaries.

Conclusion: Widespread use of standard PhenX measures in clinical, translational, and epidemiological research will enable more uniform cross-study comparisons and increase statistical power with the potential for enhancing scientific discovery.Genet Med advance online publication 12 January 2017.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Humans
  • Internet
  • Online Systems
  • Phenotype
  • Rare Diseases / diagnosis*
  • Rare Diseases / genetics*
  • Reference Standards
  • Software / standards*
  • Surveys and Questionnaires