How many individuals were identified by the All Wales Medical Genomic Service to have a CACNA1C gene change as a result of genetic testing during the years 2021, 2022 and 2023?
Ideally, your response would indicate the total for each year separately with the classification of the finding (according to ACGS Guidelines ie. Pathogenic, Likely pathogenic, Variant of Uncertain Significance, Likely benign, and Benign) alongside the number of individuals identified.
In your answer, it would be helpful to know which diagnostic test method ie. narrow and specific panel up to whole genome sequencing, was used to examine the potentially causative loci.
Thank you for your recent request.
Public Health Wales do not hold this information.
Public Health Wales is the public health service for Wales and as such is an independent NHS Trust. Therefore, do not have access to this information. As an organisation we have no jurisdiction over the activities of Health Boards and other NHS Wales organisations. This means we frequently do not have access to the data that they produce. I have provided contact details for the Cardiff and Vale University Heath Board as the All Wales Medical Genomics Service (AWMGS) is part of this Health Board and may hold the information you are requesting. You would need to contact them for any information they hold.
Cardiff and Vale University Health Board
http://www.cardiffandvaleuhb.wales.nhs.uk/freedom-of-information-new
I am very sorry we are unable to help on this occasion.
If you are unhappy with the service you have received in relation to your request and wish to make a complaint or request a review of the decision, you should write to the Corporate Complaints Manager, Public Health Wales NHS Trust, 3, Number 2, Capital Quarter, Tyndall Street, Cardiff, CF10 4BZ.
If you are not content with the outcome of your complaint or review, you may apply directly to the Information Commissioner for a decision. Generally, the ICO cannot make a decision unless you have exhausted the complaints procedure provided by the Trust. The Information Commissioner can be contacted at:
Information Commissioner for Wales
2nd Floor
Churchill House
Churchill Way
Cardiff
CF10 2HH
Telephone: 029 2067 8400
Email: wales@ico.org.uk