Who normally has access to a patient’s genetic data?
What are the key challenges around patient confidentiality that Clinical Geneticists face?
When is sharing of patient information required?
How is sharing patient information best tackled?
What are the more particular challenges?
How should genetic information be given?
Who normally has access to a patient’s genetic data?
Only doctors, nurses and other healthcare professionals in NHS Genomic Medicine Centres have access to information about the patients they are caring for.
What are the key challenges around patient confidentiality that Clinical Geneticists face?
As a number of conditions are more common in the same family, one of the key differences between clinical genetics and other specialities is that clinical genetics often involves coordinating care for more than one individual. This can aid finding the cause of disease and protecting at-risk relatives but can be challenging, as everybody is entitled to their own confidentiality and the NHS is rarely set up to support more than one patient in the same clinical episode.
When is sharing of patient information required?
- Where a mutation has been identified and close relatives (parents, siblings and children) are eligible for a blood test to determine their risk of developing the same or related disease.
- Where no mutation has been identified but other relatives might either benefit from a genetic test or are eligible for screening to detect disease at an earlier stage.
How is sharing patient information best tackled?
Clinical genetics should provide the original patient with a generic letter, for at-risk relatives, to be passed onto their family as appropriate. The at-risk relative is signposted to their own general practitioner to discuss the merits of a referral for either genetic testing or screening.
What are the more particular challenges?
- Deciding when to discuss things with children
- How best to provide information when family relationships have broken down
- Finding out who is best placed to coordinate information in large families (‘the family gate-keeper’).
How should genetic information be given?
There are no hard and fast rules to this but there are a few guiding principles that may help genetic counsellors frame these for relatives:
- Be mindful, projecting a negative or fearful approach, may profoundly effect how the disease and its risk are perceived by patients and family members.
- On occasion the affected patient may not be the best person to disclose genetic information to relatives. It may be easier and less stressful if another family member explains the situation.
- Genetic testing is often most usefully discussed at a time when the result can be meaningfully acted upon, for example at screening visits or when prevention strategies or family planning can be offered.
- Try to avoid stressful periods of time for testing if clinically time is not going to effect decisions or care e.g. avoid examination periods, beginning of the first year of university or around a new diagnosis.
- Where relationships are strained signposting by letter to clinical services may be more appropriate and less stressful for all concerned.
- Let children come to you to discuss the disease and their feelings and talk about genetics.
If your question has not been answered in this section, please visit to our Ask page and submit your question there. Our team of experts will seek to find an answer and reply to you within one month.