The ethics of identifying “genetic superheroes”

The ethics of identifying “genetic superheroes”

A recent study suggests that a tiny proportion of the population may possess “super DNA” that can negate the effects of conditions like cystic fibrosis – but making sure would breach data protection rules.

A study published in Nature Biotechnology ooked at DNA data from almost 600,000 people and discovered 13 (0.002%) who would be expected to develop certain genetic disease seemed unaffected. The study was unusual in that it tried to understand the nature of genetic mutation by looking at those who remain well despite the odds, rather than those who fall ill.

The 13 individuals should have developed conditions so severe that it is extremely unlikely that they have just not been diagnosed. Studying the individuals themselves may yield valuable insights that could theoretically lead to new treatments.

But here is the problem…

The consent rules that the DNA donors signed do not permit them to be identified. Because of this, the lucky 13 may spend their entire lives oblivious to their incredible good fortune.

Alternatively, the whole thing could be down to errors in testing, bad record keeping or other explanations like mosaicism (where some cells in the body are genetically different from others).

Without further investigation, the study poses some interesting ideas but little more.

So what now?

The researchers intend to set up a new study where patient identity can be determined if necessary.

Dr Daniel MacArthur, from the Massachusetts General Hospital, said: "Finding genetic superheroes will require other kinds of heroism - a willingness of participants to donate their genomic and clinical data and a commitment by researchers and regulators to overcome the daunting obstacles to data sharing on a global scale."

Data sharing is one thing but what proportion of people would be willing to share their genome if the data wasn’t anonymous – and without this traceability we cannot really hope to find the outliers who could possess such rare and exciting genetic possibilities.

Now there’s an ethical dilemma for you…

Read more [here]