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Genetic and genomic testing

Genetic tests in normal clinical care

In a medical setting, diagnostic genetic tests may be carried out by doctors for a number of reasons. More information about such tests and the reasons for doing them can be found here:

When doctors wish to carry out a test to try to find out why a patient is ill, they will discuss this with their patient, explain the possible outcomes from the test and how long it may take to get results. The patient’s DNA sample will only be tested to answer specific medical questions, and no other tests will be carried out.

Viking Health study, University of Edinburgh

Whole Genome Sequencing by SGP

The Scottish Genomes Partnership carries out Whole Genome Sequencing for clinical research only.

Participants taking part in any of the SGP research studies will have given consent for their DNA and health information to be used by the research team. The consent and DNA sample may have been given some time ago and stored in a biobank for future research, but the consent given originally will always be used to decide how the DNA and health information can be used. Feedback may or may not be given to the participant about any individual findings learned about them from the research, depending on what was agreed when consent was given.

Viking Health study, University of Edinburgh

Sometimes, doctors can also be involved in running a research study, and in such cases they will identify patients from their routine caseload who may be suitable, and ask if they wish to take part. This is the case with the Clinical Genetics teams in Scotland who are working on the SGP research collaboration with the 100,000 Genomes Project. If a patient is eligible and interested in being involved in this study, they are given full details of the research project. They will be supported by a genetic counsellor or research nurse to understand how their information will be used in the study and what feedback they can choose to receive. If the patient and their family decide to share their DNA and health information with the study, they will sign the relevant consent document.

Direct-to-consumer genetic testing

Some commercial companies offer direct-to-consumer genetic testing, including ancestry testing. Further information about this is available here:

We would strongly recommend that anyone who is considering any type of genetic testing considers carefully the opportunity to have pre- and post-test counselling. The information provided by such tests can raise unexpected questions and concerns, about both your ancestry and your wider health, and professional support can be required to address these questions. Dr Sarah Chan, who is a member of the SGP Ethics Advisory Group, spoke to the BBC Radio 4 Inside Science programme about this in April 2017:

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