Evaluating exome sequencing as a diagnostic service for NHS patients

• Research type

  Research Study

• Full title

  Studying the Implemention of GeNomics in wALes (SIGNAL): Evaluating exome sequencing as a diagnostic service for NHS patients

• IRAS ID

  191715

• Contact name

  Rachel Butler

• Contact email

  rachel.butler@wales.nhs.uk

• Sponsor organisation

  NHS R&D, Cardiff and Vale University Health Board

• Duration of Study in the UK

  2 years, 0 months, 1 days

• Research summary

  A rare disease is defined as an illness that affects fewer than 5 out of every 10,000 people. In Wales, around 150,000 have a rare disease of some kind.

  Investigating rare diseases can be a long and difficult process. Some patients need multiple invasive medical tests. The medical genetics team is often involved in trying to make a diagnosis.

  This study is designed to look at a new genetic investigation called “Exome Sequencing”. Exome Sequencing is thought to be a faster and more efficient way of performing genetic testing.
  We aim to find out if Exome Sequencing is a useful tool for making genetic diagnoses. To do this, we will compare the numbers of genetic diagnoses made with exome sequencing other investigations.
  We also want to know if the Exome Sequencing is affordable for the Welsh NHS. To find out, we will compare the cost of Exome Sequencing with the other investigations.
  Genetic testing can be stressful for families. We want to find out how patients feel about having this new test. We will collect questionnaires from patients, before and after they receive their results. A few families will be selected for a face-to-face interview about the project.

  The research will take place over a two year period and will be carried out at hospitals across Wales. Patients will be asked if they want to take part by their Medical Genetics consultants. A blood sample will be taken and DNA will be collected from this sample for testing.
  Exome sequencing produces a large volume of information about patients, which needs analysing using computer software. Once the data for each patient has been analysed, a report will be written, containing information about any genetic problems that have been identified. The Medical Genetics Consultant will then discuss this report with the family.
  

• REC name

  Wales REC 1

• REC reference

  16/WA/0037

• Date of REC Opinion

  29 Feb 2016

• REC opinion

  Further Information Favourable Opinion