Case study 2: What could you find out?
Patricia is 45 and has been diagnosed with breast cancer which is shocking news for Patricia and her family. As well as understanding the information about her diagnosis and treatment, Patricia has been asked to think about donating her tumour tissue, a blood sample and her health records to a biobank so that research can be carried out into the type of cancer she has been diagnosed with.
Patricia needs to decide whether or not to donate to this cancer biobank before she has any treatment so that the differences in her cancer cells can be analysed before they are altered or killed. This means she does not have much time to decide. She wants to know what donating her tissues and health records will involve.
Patricia thinks that there is an inherited cause for her breast cancer because her mother died of the disease. She has talked with her sisters about this and the three of them are concerned to know what the implications of Patricia’s diagnosis are for her sisters and for their children.
If she decides to volunteer, the tissue samples Patricia would donate would have the DNA analysed using a technique called ‘whole genome sequencing’. This technique reads the DNA’s code for all the genetic information in the body and would compare the DNA in Patricia’s healthy cells with the DNA in her cancer cells to see how it had changed and caused her breast cells to become cancerous. These changes and Patricia’s health records, along with similar data from other patients, can suggest what causes cancerous changes, why some people get ill but not others and help develop treatments. Sequencing DNA may also show changes in Patricia’s DNA that could be important for her and her relatives in other ways because they will share much of the same patterns in their DNA.
Taking part will involve
- Agreeing to donate samples (of tumour and blood) now and in the future.
- Giving personal details, health information and medical records to the project now and in the future. Participants’ GPs are notified if they agree to take part.
- Extract DNA from the samples for whole genome sequencing.
- Test blood samples now and in future with new tests as they are developed
- Store samples and health record data in a biobank
Patricia will be told
- About relevant findings from the sequencing of her tumour and healthy DNA
- How this may affect her treatment; it is possible that there will not be any useful information that might change her treatment.
- Information about DNA changes in the healthy cells that caused the cancer to develop. Other relatives may have the same changes and could be tested for this. If this happens Patricia will get help from her clinical team with how to discuss this with family members.
- If changes in the healthy DNA make future development of cancer more likely then Patricia and relatives may be offered extra screening or treatment to reduce the chance of developing cancer in future.
Patricia can choose whether or not she wants to know about DNA changes that might be relevant for her future health or her relatives’, but which are additional findings to information about her breast cancer. Only diseases that can be treated or screened for at an early stage will be looked for and only if she asks for it. Other genetic information such as the risk of diseases that cannot be treated will not be looked for. If an additional finding is looked for and found, such as being at risk of another kind of cancer, Patricia will be given advice about what screening or treatment she could have. The diseases that can be looked for are not common and the chance of having one is not high.
More information about a similar case to Patricia’s can be found here