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© Dale Crosby Close for Mosaic 


© Dale Crosby Close for Mosaic 

A lot of research goes into creating our stories. Here are some of the resources we used to put together our story on the ethical issues around sharing genetic information.

Genetic diagnosis is getting ever more sophisticated. But as doctors uncover diseases that are hereditary, who needs to know? In this feature for Mosaic, Shaun Raviv explores the rights – and duties – of doctors, patients and families.

If you want to dive deeper into this topic, here’s some further reading. We’ve broken things down into key subtopics, but otherwise these links aren’t listed in any particular order – so feel free to dip in and out.

Doctor–patient confidentiality

The UK General Medical Council’s guidelines on confidentiality outline what’s expected of British doctors in terms of their ethical and legal duties regarding patient information and disclosure.

This analysis by the British Medical Journal explores the case of Patient ABC (featured in our story as Jane) and discusses whether sharing a patient’s genetic information with their relatives without their consent is ever acceptable.

This article in Nature argues that, while an individual’s clinical diagnosis should remain confidential, the discovery of a familial factor that led to the diagnosis should be available in a depersonalised form for doctors to use when treating relatives. 

What happens when the patient’s permission can’t be sought? This Trends in Molecular Medicine article presents the pros and cons of disclosing genetic information to the relatives of a patient who’s died. 

Doctors’ accountability

This opinion piece from the Royal Australian College of General Practitioners gives one doctor’s perspective on the duty of care to patients’ relatives and explores the wider ethical debate around doctors’ accountability.

The ethical issues that arise when balancing individual and family member interests in genetic testing are the subject of this Nature article.

When you have a serious hereditary disease, who has a right to know?

Genetic diagnosis is getting ever more sophisticated. But as doctors uncover diseases that are hereditary, who needs to know?

The right not to know

What happens to relatives that don’t want to know about a genetic diagnosis? This Bioethics study involving people with a genetic susceptibility to cancer sought to understand their experiences of genetic testing and how these influenced their family relationships. It revealed certain negative attitudes towards relatives that decline genetic testing.

This article in the Independent features Emma, who is facing the dilemma of whether or not to take a genetic test to find out if she is at risk of developing motor neurone disease, a neurodegenerative disorder that killed her mother and her grandfather. 

The reality of genetic testing

If a patient consents to a genetic test for one condition but the results show that they are susceptible to another disease, such as Huntington’s, should the doctor inform the patient? This Forbes article explores this thorny issue.

This Footnote article asks, if you have a genetic test, who owns your genetic information? Is it yours alone, or do family members who share parts of your DNA have some claim to it too? 

Read more Mosaic stories on genetics

Bringing genetics into medicine leads to more accuracy, better diagnosis and personalised treatment – but not for everyone. In ‘The uncertain future of genetic testing’, Carrie Arnold meets families for whom gene testing has led only to unanswered questions.

In ‘Genetics: risk or destiny?’, Information is Beautiful Studio take a visual approach to exploring the complex relationships between our health, genes, lifestyle and environment.

When Kim Goodsell discovered that she had two extremely rare genetic diseases, she taught herself genetics to help find out why. In ‘DIY diagnosis: how an extreme athlete uncovered her genetic flaw’, Ed Yong tells her story.

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