Clinical genetics clinical outcomes

Clinical outcomes are broadly agreed, measurable changes in health or quality of life that result from our care. Constant review of our clinical outcomes establishes standards against which to continuously improve all aspects of our practice.

About the Clinical Genetics Service

The Clinical Genetics Service at Great Ormond Street Hospital (GOSH) offers clinical assessments and investigations, including genetic tests, for children and adults with complex medical problems, to aid diagnosis of genetic conditions. It provides genetic counselling for families about the likely recurrence of congenital abnormalities and medical problems.

Our service also assesses individuals who are concerned about increased risk of cancer where there is a ‘familial aggregation’. In families considered to be at increased risk, gene testing may be offered and arranged, as well as advice about methods to reduce risk or screen for tumours.

The GOSH Service is part of the North East Thames Regional Genetics Service, which also includes the Regional Molecular Genetics Laboratory and the Regional Cytogenetics Laboratory. The three units work closely together to provide an integrated service.

The objective of the team is to ensure that the information and advice provided is communicated effectively, is helpful and can be understood by patients and their families.

Clinical Genetics Patient-Reported Outcome Measure (PROM)

The key measurable for our Clinical Genetics Service is the communication process, which serves to educate, inform, and aid decision making. To measure our effectiveness at meeting the needs of our patients and/or parents, we run a questionnaire every two years.

This year, we used an adapted version of the ‘Perceived Personal Control’ (PPC) measure, which was designed to capture a wide range of effects of genetic counselling (Berkenstadt 1999, Smets 2006, McAllister 2012). Patients/parents were given the questionnaire before and after their first genetics appointment with a consultant, and the scores were compared.

Fifty two before-clinic and 23 after-clinic questionnaires were completed June-August 2014. The responses of those who only completed the before questionnaire were similar to the before responses of those who completed the questionnaire before and after their appointment. Therefore, in order to clearly show the measure of change, we display the results for those who completed the questionnaire both before and after their appointment.

Figure 1.1

Figure 1.1
Figure 1.1

Forty one per cent of respondents felt they knew the meaning of the genetic problem for their future/their family’s future prior to the clinic. After the appointment, that had risen significantly to 78 per cent. Those who felt unsure dropped from 50 per cent before the appointment to 13 per cent after the appointment.

Figure 1.2

Figure 1.2
Figure 1.2

It is not always possible to pinpoint the cause of a genetic condition. This may explain why a higher proportion of respondents were unsure about the cause of their problem after their genetics appointment (39 per cent before and 55 per cent after). The higher levels of uncertainty do not indicate a failure of the process. Rather, it may reflect misperceptions being corrected.

Figure 1.3

Figure 1.3
Figure 1.3

Coming to terms with genetic concerns can take time and involve the absorbing of information in order to make choices. Respondents who felt they had the information to make a choice between their options increased from 26 per cent before their appointment to 64 per cent after their appointment.

Figure 1.4

Figure 1.4
Figure 1.4

Input from our service would ideally help patients/parents to know what they plan to do next regarding the genetic condition. Thirteen per cent of respondents thought they knew what their next steps would be before the appointment. This had increased to 48 per cent after the clinic appointment.

Conclusion

Our 2014 PROM results suggest that our consultant clinic appointments improve patients’/parents’ understanding of what the genetic condition means for them and their families. Uncertainty about cause can increase, though this may reflect correction of misperceptions prior to the appointment. Results also suggest that the appointment increases a sense of confidence in having the information to make choices, and in clarity about next steps.

This information was published in October 2014, and will be updated every two years.