Communicating genetic information to and within MPS II families
Research type
Research Study
Full title
Communication of genetic information and inheritance pattern to and within families of children with mucopolysaccharidosis type II (MPS II)
IRAS ID
262801
Contact name
Katherine Aitchison
Contact email
Sponsor organisation
Manchester University NHS Foundation Trust
Duration of Study in the UK
0 years, 5 months, 13 days
Research summary
Summary of Research
Metabolic diseases include a huge number of conditions in which the body is unable to correctly process substances such as protein or fat. They can be inherited in a number of different ways, including X-linked recessive where an unaffected mother can pass the condition to her sons (females are usually unaffected). It is therefore important that, when an X-linked recessive condition is diagnosed, the method of inheritance is explained and shared within the family. This will enable any healthy women to consider genetic testing so that they are aware of any risk to their children and the options available to them for having unaffected children. Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a metabolic condition inherited in an X-linked recessive pattern.
In Manchester, patients with metabolic conditions are managed by a specialist team with limited input from Clinical Genetics. As patients require complicated management including dietary advice and monitoring of symptoms, there may not be time for detailed discussions about genetics. Equally the patient’s healthy relatives are not the focus of the consultation and conversations around their risk and ways to share information with them may be limited.
This project aims to interview families affected by MPS II to understand their thoughts about the risk of other affected children being born in the family, including in future generations, and to ask whether they feel they might benefit from attending the Genetics department. Particular attention will be paid to the sisters of affected boys and whether their parents feel able to talk to them about the potential risk to their children and how this can be avoided.
Families with MPS II will be identified by the metabolic consultant and will be interviewed at home or in the clinic and the data will be analysed using thematic analysis.
Summary of Results
The communication of genetic information to and within families affected by rare genetic diseases continues to be an area of interest within the genetics community. This study adds to the existing research by exploring the experiences of female relatives, including mothers of children affected by MPS II offering insights into the following:
- Should families be referred for genetic counselling? If so, when?
- How are women in families with a progressive X-linked condition being told about their risk, and how do they find this experience?
- How is this information being shared within the wider family (if at all)? How are families findings this process?
- Should we as healthcare professionals be doing more?Themes emerging from this research relating to the response to genetic information, male relatives' experiences and recommendations for healthcare professionals can help shape clinical practice and reinforces the need for thoughtful and adaptive practitioners in response to advancements in genomic testing.
REC name
North West - Greater Manchester East Research Ethics Committee
REC reference
19/NW/0725
Date of REC Opinion
2 Dec 2019
REC opinion
Favourable Opinion