Clinical genetics clinical outcomes

Clinical outcomes are measurable changes in health, function 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.

Clinics are run in many different places throughout North East London and Essex. Patients may be seen by one of the consultants, one of the doctors training in genetics or one of the genetic counsellors.

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 year.

In 2018/19, 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). All patients seen in a one month period (January 2019) were sent the questionnaire by email after their appointment in one of the genetics clinics.

One hundred and three after-clinic questionnaires were completed in January 2019. Results are shown for respondents answering each question.

Ninety-six % of respondents felt that the consultation was extremely useful, and 97% were either very satisfied (83%) or satisfied (14%) with the service received by the Clinical Genetics Service.

Fig. 1.1 Did you understand what the doctor or counsellor you saw told you?

Figure 1.1 Did you understand what the doctor or counsellor you saw told you?

All 103 (100%) respondents said they understood what the doctor or counsellor they saw told them.

Fig. 1.2 Do you feel that you have the information to make decisions about the condition for you / your family?

Figure 2.1 Do you feel that you have the information to make decisions about the condition for you / your family?

Eighty-four (82%) respondents said they feel they have the information to make decisions about the condition for themselves or their family.

Fig. 1.3 How far do you agree with the following statement: The clinical genetics appointment was extremely useful?

Figure 1.3 How far do you agree with the following statement: The clinical genetics appointment was extremely useful?

Ninety-eight (96 %) respondents said they ‘Strongly agree’ (77%) or ‘Agree’ (19%) that the consultation was extremely useful.

Fig. 1.4 How satisfied were you with the service received from the Clinical Genetics Service?

Figure 1.4 How satisfied were you with the service received from the Clinical Genetics Service?

Ninety-nine (97%) respondents were either ‘Very satisfied’ (83%) or ‘Satisfied’ (14%) with the service they received from the Clinical Genetics Service.

Conclusion

Our 2019 PROM results suggest that our clinic appointments improve patients’ / parents’ understanding of what the genetic condition means for them and their families. Results also suggest that the appointment increases a sense of confidence in having the information to make choices, and in provision of practical help and advice.

This information was published in July 2019, and will be updated every two years.

References

Berkenstadt, M., et al. Perceived personal control (PPC): A new concept in measuring outcome of genetic counseling, American Journal of Medical Genetics, 1999, 82, 53-59

Smets, E. M., et al. The perceived personal control (PPC) questionnaire as an outcome of genetic counseling: reliability and validity of the instrument, American Journal of Medical Genetics, 2006, 140, 843-50

McAllister, M., et al. The perceived personal control (PPC) questionnaire: reliability and validity in a sample from the United Kingdom, American Journal of Medical Genetics, 2012 158A, 367-372