Journal of Community Genetics

, Volume 1, Issue 1, pp 41–46

Assessing the risks and benefits of diagnosing genetic conditions with variable phenotypes through population screening: Klinefelter syndrome as an example

  • Amy Simone Herlihy
  • Jane Halliday
  • Rob I. McLachlan
  • Megan Cock
  • Lynn Gillam
Commentary

DOI: 10.1007/s12687-010-0006-0

Cite this article as:
Herlihy, A.S., Halliday, J., McLachlan, R.I. et al. J Community Genet (2010) 1: 41. doi:10.1007/s12687-010-0006-0

Abstract

Consideration of postnatal population-based genetic screening programs is becoming increasingly common. Assessing the medical and psychosocial impacts of this can be particularly complex for genetic conditions with variable phenotypes, especially when outcomes may be more related to quality of life rather than reducing physical morbidity and mortality. In this article, we present a framework for assessing these impacts, by comparing diagnosis and non-diagnosis at different age points. We use the example of Klinefelter syndrome, a common yet frequently under-diagnosed genetic condition for which interventions are available. This framework can be used to supplement established screening guidelines and inform decision-making.

Keywords

Klinefelter syndrome Genetic testing Genetic screening 47,XXY 

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Amy Simone Herlihy
    • 1
    • 2
    • 3
    • 4
  • Jane Halliday
    • 1
    • 5
  • Rob I. McLachlan
    • 2
    • 3
    • 4
  • Megan Cock
    • 2
    • 3
  • Lynn Gillam
    • 1
    • 5
  1. 1.Public Health Genetics, Murdoch Childrens Research InstituteRoyal Children’s HospitalParkvilleAustralia
  2. 2.Monash UniversityClaytonAustralia
  3. 3.Andrology AustraliaClaytonAustralia
  4. 4.Prince Henry’s Institute of Medical ResearchClaytonAustralia
  5. 5.Melbourne UniversityParkvilleAustralia

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