Improving Service Evaluation in Clinical Genetics: Identifying Effects of Genetic Diseases on Individuals and Families
- 13 February 2007
- journal article
- Published by Wiley in Journal of Genetic Counseling
- Vol. 16 (1), 71-83
- https://doi.org/10.1007/s10897-006-9046-3
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.Keywords
This publication has 49 references indexed in Scilit:
- Genetic professionals' reports of nondisclosure of genetic risk information within familiesEuropean Journal of Human Genetics, 2005
- Exploratory study of the feasibility and utility of the colored eco‐genetic relationship map (CEGRM) in women at high genetic risk of developing breast cancerAmerican Journal of Medical Genetics Part A, 2004
- Assessment of genetic testing and related counseling services: current research and future directionsSocial Science & Medicine, 2004
- Long-Term Psychological Impact of Carrying a BRCA1/2 Mutation and Prophylactic Surgery: A 5-Year Follow-Up StudyJournal of Clinical Oncology, 2003
- Comparison of genetic services with and without genetic registers: access and attitudes to genetic counselling services among relatives of genetic clinic patientsJournal of Medical Genetics, 2002
- Genetic Testing for Breast and Ovarian Cancer Predisposition: Cancer Burden and ResponsibilityJournal of Health Psychology, 2002
- Process studies in genetic counseling: Peering into the black boxAmerican Journal of Medical Genetics, 2001
- Integrated regional genetic services: current and future provision Commentary: The future development of regional genetic services will rely on partnershipsBMJ, 2001
- Cancer genetic consultation and anxiety in healthy consulteesPsychology & Health, 1999
- Satisfaction with genetic counseling: Dimensions and measurementAmerican Journal of Medical Genetics, 1990