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Journal of Genetic Counseling

, Volume 16, Issue 1, pp 71–83 | Cite as

Improving Service Evaluation in Clinical Genetics: Identifying Effects of Genetic Diseases on Individuals and Families

  • Marion McAllister
  • Katherine Payne
  • Stuart Nicholls
  • Rhona MacLeod
  • Dian Donnai
  • Linda M. Davies
Original Research

Outcome measurement in clinical genetics is challenging. Outcome attributes used currently have been developed by service providers or adapted from measures used in other areas of healthcare. Many of the ‘patients’ in clinical genetics are healthy but at risk of developing or transmitting a condition. Usually no pharmacological or surgical treatment is offered, although information-giving is an objective of most consultations. We argue that services should be evaluated on the basis of how well they alleviate the effects of disease, from a patient perspective. This paper describes a qualitative study using seven focus groups with health professionals, patients and patient representatives. Social and emotional effects of genetics diseases were identified. Some differences emerged between the effects identified by health professionals and those identified by patients. These findings will be used to inform the evaluation of existing outcome measures and develop robust measures of outcome for clinical genetics services.

KEY WORDS

clinical genetics services outcome measurement evaluation effects of genetic diseases 

Notes

ACKNOWLEDGEMENTS

We would like to thank the Huntington’s Disease Association, the Neurofibromatosis Association; the Gorlin syndrome group; the Hereditary Breast Cancer helpline; the Motor Neurone disease support group, the Von-Hippel Lindau Disease support group, Breakthrough Breast Cancer Genetics Reference Group and the Myotonic Dystrophy group for providing representation in the focus groups. We would also like to thank the patients and health professionals who gave freely of their time to contribute to this research. Nowgen, the Northwest Genetic Knowledge Park is funded by a grant from the Department of Health and the Department of Trade and Industry. Funding is also acknowledged from Central Manchester and Manchester Children’s University Hospitals NHS Trust and the Universities of Manchester, Liverpool and Lancaster. The views expressed in this paper are those of the authors and not of the funding bodies.

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Copyright information

© National Society of Genetic Counselors, Inc. 2007

Authors and Affiliations

  • Marion McAllister
    • 1
    • 2
  • Katherine Payne
    • 1
    • 3
  • Stuart Nicholls
    • 1
    • 3
  • Rhona MacLeod
    • 2
    • 3
  • Dian Donnai
    • 1
    • 2
    • 3
  • Linda M. Davies
    • 3
  1. 1.Nowgen, The North West Genetics Knowledge ParkManchesterUnited Kingdom
  2. 2.Central Manchester and Manchester Children’s University Hospitals, NHS TrustManchesterUnited Kingdom
  3. 3.The University of ManchesterManchesterUnited Kingdom

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