Expectations and Outcomes of Genetics Services

Abstract

Measuring outcomes from clinical genetics services is difficult because the interventions offered focus on provision of information, counselling and genetic testing, and are unlikely to improve patient health status. Furthermore, patients are not always clear what to expect from a clinical genetics service. Patient reported outcome measures (PROMs) have recently gained prominence in healthcare evaluation worldwide. Although PROMs have often been used in research, the PROMs approach to service evaluation is new to clinical genetics, which have historically been evaluated using process measures, for example, number of genetic tests done, waiting times and number of patients attending. A range of PROMs is available for evaluating clinical genetics services, but few suitable PROMs have been robustly validated. Furthermore, PROMs use in this context is likely to be influenced by patients' changing expectations as they navigate their journey through clinical genetics services.

Key Concepts:

  • Measuring outcomes from clinical genetics services is difficult and there is no consensus about the best way to do this.

  • Patient expectations may influence satisfaction with healthcare in general and responses to interventions provided in clinical genetics in particular.

  • Health services are increasingly expected to demonstrate that they are delivering patient benefits.

  • To this end, patient reported outcome measures (PROMs) are of growing importance in healthcare evaluation.

  • Although PROMs have their limitations, they can be a useful supplement to traditional quality measures used in healthcare.

  • It is timely for the clinical genetics community to work together in order to develop a standardised core set of quality outcome measures to evaluate services and interventions in research and clinical practice.

Keywords: patient reported outcome measures; service evaluation; clinical genetics services; genetic counselling; patient expectations; response shift; psychometrics

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McAllister M (2010) Outcome measures in clinical genetics services. In: Kristofferson U, Cassiman JJ and Schmidtke J (eds) Quality Issues in Clinical Genetics Services. Dordrecht, Heidelberg, London, New York: Springer.

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McAllister, Marion(Nov 2013) Expectations and Outcomes of Genetics Services. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0025145]