Genomics in Scotland: Building our Future Strategy Summary

3. How do we use genomics in medicine?

There are many different types of tests available to look for changes in individual genes, chromosomes, or proteins within the body.

These can be used for:

• Diagnosis,
• As part of screening, for monitoring of an existing condition,
• To make decisions about treatment.

Healthcare professionals will consider different factors when choosing the right test for each person including what condition, or conditions, is suspected and the genetic changes usually associated with those conditions. Tests can focus on small segments of a person’s DNA (single gene or small numbers of genes) or on large numbers of genes or whole sections of a person’s genome (all their genes together).

Some of the genetic changes that healthcare professionals look for are inherited (they are passed from parents to children).

There are also genetic variants that are not inherited but develop during a person’s lifetime or in response to different environmental factors.

Most cancers, for example, are linked to non-inherited genetic changes but healthcare professionals may still in these cases look at inherited genetic changes because it can help guide treatment decisions (some people will respond better to some treatments than others because of their genetic make-up).

Genomic medicine has a very wide range of potential uses. This strategy is focused on its application to cancer and rare and inherited conditions, as the areas that need attention most urgently in Scotland.