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01-02-2007 | Original Research

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

Authors: Marion McAllister, Katherine Payne, Stuart Nicholls, Rhona MacLeod, Dian Donnai, Linda M. Davies

Published in: Journal of Genetic Counseling | Issue 1/2007

Abstract

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.

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Title: Improving Service Evaluation in Clinical Genetics: Identifying Effects of Genetic Diseases on Individuals and Families
Authors: Marion McAllister
Katherine Payne
Stuart Nicholls
Rhona MacLeod
Dian Donnai
Linda M. Davies
Publication date: 01-02-2007
Publisher: Kluwer Academic Publishers-Plenum Publishers
Published in: Journal of Genetic Counseling / Issue 1/2007
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-006-9046-3

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

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