Case study 3: What could the long-term impact be?
Baby George was causing his parents concern as he seemed to have developmental delay, unusual facial features and weak muscles. George was referred to a paediatrician and a clinical geneticist to try and find a diagnosis. Initial tests were inconclusive so George’s doctors suggested that he and his parents have their DNA sequenced and compared to look for a rare disease.
If they decide to do this, the blood samples from George and his parents would have the DNA analysed using a technique called ‘whole genome sequencing’. This technique reads the DNA code for all the genetic information in the body and would compare the DNA in George’s cells with both his parents’ to see where it was different and what the cause of his developmental problems might be. Comparing genome sequences can suggest what causes genetic changes that lead to rare diseases. Sequencing DNA may also show changes in their DNA that could be important for the family and their relatives because they will share much of the same patterns in their DNA. These changes and George and his parents’ health records, along with similar data from other patients would be kept in a biobank and used for research into genetic diseases in the future.
Before they agree to participate George’s parents wanted to know what information they will receive and about any possible implications for George, for themselves and their relatives and for any future children they may have.
Taking part will involve
- George’s parents agreeing to give blood samples from themselves and George to the biobank
- George and both his parents’ health information and medical records being shared with the biobank (participants’ GPs are notified if they agree to take part)
- DNA extraction from the samples for whole genome sequencing
Information George’s parents will receive
- Sequencing results are sent to George’s clinical team who discuss them with his parents. He would be included when he was able to understand the discussion.
- Results may include information that affects George’s treatment and support needs but it is also possible that there will not be any useful information that could help George.
- Additional results in the future as new knowledge about genomics is found and added to the list of conditions that are reported.
- Any additional finding that is found and can be prevented or treated. They will be given advice about what screening or treatment is possible. The diseases that can be looked for are not common and the chance of having one is not high.
- No other genetic information will be looked for. This means that the risk of diseases that cannot be treated and which do not relate to George’s problems will not be looked for.
George’s parents can choose
- Whether or not they want to know about additional DNA changes that might be relevant for George’s health while he is still a child such as whether or not he has a genetic disease like cystic fibrosis. Findings that would affect him as an adult, such as a higher risk of certain cancers, will not be looked for as he has to be able to consent to this himself once he is an adult.
- To find out about additional findings such as increased risk of certain cancers in their own DNA samples. Only diseases that can be treated or screened for at an early stage will be looked for and only if they ask for it.
- To ask for information about whether or not they are carriers for genetic diseases that could affect future children they have. These conditions will only be looked for if both George’s parents are taking part and if they both ask for them to be looked for.
Information about a similar situation is available here