VHL UK/Ireland is asking for your help with a new research study by Cardiff University. The study is called “The impact of a predictive genetic diagnosis in childhood on psychosocial experiences of adults with von Hippel-Lindau Syndrome (VHL)”.
The research aims to understand how finding out about a VHL genetic diagnosis during childhood or teenage years may have affected people’s thoughts, feelings, and social experiences later in life.
The study is looking for adults (aged 18 or older) who were diagnosed with VHL through genetic testing as children—before they showed any symptoms.
The study will take place remotely, and all information you share will be kept private and handled according to Data Protection laws.
Study on the impact of a predictive genetic diagnosis in childhood on psychosocial experiences of adults with von Hippel-Lindau Syndrome (VHL).
Aim of Study:
To explore the psychological and social impact that receiving a genetic diagnosis during childhood or adolescence may have had on the later life experiences of individuals with VHL.
Potential study benefits:
To gain greater understanding of the lived experiences of these individuals as this topic has not previously been investigated in the English language. Research in this field aims to inform patient-centred clinical service improvements.
Am I eligible to take part?
You can take part in this study if you are an adult over the age of 18 who received a genetic diagnosis of VHL in childhood before any symptoms of the condition were present or diagnosed. You must be able to speak and understand English to consent to take part in this research.
What do I have to do to take part?
If you are interested in taking part in this study, please contact the researcher directly, contact details below. You will be provided the opportunity to discuss the study with the researcher and ask any questions. If you subsequently decide to take part, you will be required to sign a consent form which will be securely stored at Cardiff University.
The study involves an interview during which you will be asked questions about how VHL may have impacted your life experiences since your genetic diagnosis.
This will be conducted online using the MS Teams platform (or on request by telephone) and will last around 45-60 minutes. You will be able to decide when the most convenient time is, for the interview to take place.
All interviews will be audio-recorded either via MS Team or using a dictaphone for telephone interviews (with phone on loudspeaker) and stored securely on the Cardiff University server. Following the interview, you will have the opportunity to share any additional thoughts and experiences via a post interview questionnaire or ask any additional questions in relation to this project.
Confidentiality:
All of your personal information and data will be securely stored on a password-protected computer. All information will be anonymised, and pseudonyms (false names) will be used.
What will happen to my data?
The results of this study will be published as a student dissertation for Cardiff University. The results may also be published in relevant peer-reviewed scientific journals. They will also be shared with the VHL-UK-Ireland support group and participants of the study should they be interested in receiving them. None of your personal information will be shared in any publications.
Contact details for registration: If you are interested in taking part in this research, please contact the researcher by email:
Researcher: Eva Farrell: farrellel@Cardiff.ac.uk
Open positions: Chair of Trustees & Secretary
