PhenX measures for phenotyping rare genetic conditions

Michael Phillips, Tracey Grant, Philip Giampietro, Joann N Bodurtha, Rodolfo Valdez, Deborah R. Maiese, Tabitha Hendershot, Sharon F. Terry, Carol M. Hamilton

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)834-837
Number of pages4
JournalGenetics in Medicine
Volume19
Issue number7
DOIs
StatePublished - Jul 1 2017

Fingerprint

Growth Charts
Viverridae
Reproductive History
Translational Medical Research
Sweat
Research
Biological Assay
Publications
Chlorides
Mental Health
Demography
Parturition
Phenotype
Bone and Bones
Surveys and Questionnaires

Keywords

  • phenotypes
  • PhenX; PhenX Toolkit
  • rare genetic conditions
  • standardized measures

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Phillips, M., Grant, T., Giampietro, P., Bodurtha, J. N., Valdez, R., Maiese, D. R., ... Hamilton, C. M. (2017). PhenX measures for phenotyping rare genetic conditions. Genetics in Medicine, 19(7), 834-837. https://doi.org/10.1038/gim.2016.199

PhenX measures for phenotyping rare genetic conditions. / Phillips, Michael; Grant, Tracey; Giampietro, Philip; Bodurtha, Joann N; Valdez, Rodolfo; Maiese, Deborah R.; Hendershot, Tabitha; Terry, Sharon F.; Hamilton, Carol M.

In: Genetics in Medicine, Vol. 19, No. 7, 01.07.2017, p. 834-837.

Research output: Contribution to journalArticle

Phillips, M, Grant, T, Giampietro, P, Bodurtha, JN, Valdez, R, Maiese, DR, Hendershot, T, Terry, SF & Hamilton, CM 2017, 'PhenX measures for phenotyping rare genetic conditions', Genetics in Medicine, vol. 19, no. 7, pp. 834-837. https://doi.org/10.1038/gim.2016.199
Phillips M, Grant T, Giampietro P, Bodurtha JN, Valdez R, Maiese DR et al. PhenX measures for phenotyping rare genetic conditions. Genetics in Medicine. 2017 Jul 1;19(7):834-837. https://doi.org/10.1038/gim.2016.199
Phillips, Michael ; Grant, Tracey ; Giampietro, Philip ; Bodurtha, Joann N ; Valdez, Rodolfo ; Maiese, Deborah R. ; Hendershot, Tabitha ; Terry, Sharon F. ; Hamilton, Carol M. / PhenX measures for phenotyping rare genetic conditions. In: Genetics in Medicine. 2017 ; Vol. 19, No. 7. pp. 834-837.
@article{09d92a4d126b41289c5d3eb1eb41dab7,
title = "PhenX measures for phenotyping rare genetic conditions",
abstract = "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.",
keywords = "phenotypes, PhenX; PhenX Toolkit, rare genetic conditions, standardized measures",
author = "Michael Phillips and Tracey Grant and Philip Giampietro and Bodurtha, {Joann N} and Rodolfo Valdez and Maiese, {Deborah R.} and Tabitha Hendershot and Terry, {Sharon F.} and Hamilton, {Carol M.}",
year = "2017",
month = "7",
day = "1",
doi = "10.1038/gim.2016.199",
language = "English (US)",
volume = "19",
pages = "834--837",
journal = "Genetics in Medicine",
issn = "1098-3600",
publisher = "Lippincott Williams and Wilkins",
number = "7",

}

TY - JOUR

T1 - PhenX measures for phenotyping rare genetic conditions

AU - Phillips, Michael

AU - Grant, Tracey

AU - Giampietro, Philip

AU - Bodurtha, Joann N

AU - Valdez, Rodolfo

AU - Maiese, Deborah R.

AU - Hendershot, Tabitha

AU - Terry, Sharon F.

AU - Hamilton, Carol M.

PY - 2017/7/1

Y1 - 2017/7/1

N2 - 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.

AB - 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.

KW - phenotypes

KW - PhenX; PhenX Toolkit

KW - rare genetic conditions

KW - standardized measures

UR - http://www.scopus.com/inward/record.url?scp=85024092970&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85024092970&partnerID=8YFLogxK

U2 - 10.1038/gim.2016.199

DO - 10.1038/gim.2016.199

M3 - Article

C2 - 28079902

AN - SCOPUS:85024092970

VL - 19

SP - 834

EP - 837

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

IS - 7

ER -