Case study 30.1
Why may Christopher be reluctant to discuss testing with his family?
Christopher may be reluctant to disclose personal information about himself due to the difficult relationship that exists. He may find it uncomfortable to make contact with relatives who he has not spoken to for some years, particularly if it is likely to arouse high emotion. He may be unsure about the receptivity of the family members to information and may feel a low sense of responsibility if he is not close to his family.
What could the ethical dilemmas be with regard to contacting the wider family?
Christopher may choose not to pursue the contact even if it could help him to reach a genetic diagnosis or assist his family members to also discover diagnoses that may have future health implications. If he chooses to inform them, he may give partial or incorrect information or rely on other family members to impart information.
In choosing whether or not to disclose, you can consider the ethical dilemma of beneficence – a ‘good’ thing to do could be inform relatives of their risk versus the concept of non-maleficence – psychological harm could be caused by worrying about a possible genetic illness. Christopher will require help to weigh up the risks and time to discuss the options.
He may want to alert the family to the possibility of a genetic illness, whilst remaining anonymous; his right to privacy must be adhered to.
What are the implications for Christopher and his family of possibly finding unrelated risk factors as a consequence of whole genome sequencing?
Whole genome sequencing creates the possibility of identifying unrelated genetic defects which indicate a higher statistical risk of developing illness, such as certain types of cancer. The person may never go on to develop the cancer, yet still experience high levels of anxiety due to the perceived risk of susceptibility to illness in the future. Genetic counsellors will discuss this risk and the potential psychological effects before they decide whether to be tested, allowing them to make a fully informed decision. There may be undue concern about whether the knowledge of risk factors through genetic testing could have financial implications. This may be in relation to insurance; however the only genetic diagnosis that a person is required to disclose for life insurance purposes in the UK is Huntington’s disease, or employment discrimination based on genetic features, which is currently prohibited by the EU’s Lisbon Treaty.
Consider the importance of communication between healthcare specialities in Christopher’s care.
It is vital that Christopher has access to genetic counsellors who can help him navigate the difficult journey of how, when and if to approach family members. There may be the option of using intermediaries to impart information or offer testing. In this case there is a need for excellent communication between the GP, who has knowledge of the whole family, the oncologist, who appropriately refers to immunology and the immunology team who manage ongoing specialist care and refer on to the genetic team for counselling and further testing. It is important to keep all specialities informed of the decisions made about the management of testing, so that mistakes or miscommunication are avoided.