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.

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 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 with a known diagnosis were given the questionnaire after their appointment  in one of the genetics clinics.

Ninety-eight after-clinic questionnaires were completed in October 2016. Results are shown for respondents answering each question, so responses may not add up to ninety-eight.

Figure 1.1

Clinical Genetics Fig1.1

Eighty-eight respondents said they were told whether the condition could affect other people in the family.

Figure 1.2

Clinical Genetics Fig1.2

Eighty-two respondents said they feel they have the information to make decisions about the condition for themselves and or their family.

Figure 1.3

Clinical Genetics Fig1.3

Eighty-three respondents said they were given practical help and or advice about things that could be done for themselves and or their child.

Figure 1.4

Clinical Genetics Fig1.4

Ninety-six respondents rated their satisfaction with the Clinical Genetics Services as either ‘Very satisfied’ (eighty-eight) or ‘Satisfied’ (eight), and no respondents reported dissatisfaction. 

Conclusion

Our 2016 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 November 2017, and will be updated every two years.