Breakthrough in human gene editing raises ethical questions

03 Aug 2017

In a ground-breaking experiment, an international team of scientists on Wednesday officially reported the successful elimination of a genetic disease from human embryos.

Scientists for the first time successfully edited genes in human embryos to repair a common and serious disease-causing mutation, producing apparently healthy embryos, according to a study published on Wednesday.

The research marks a major milestone and, while a long way from clinical use, it raises the prospect that gene editing may one day protect babies from a variety of hereditary conditions.

It's potentially a huge step for medicine - but also a controversial one. While these embryos, which a team led by researchers at the Oregon Health and Science University edited using a novel gene-editing procedure known as CRISPR-Cas9, were destroyed rather than implanted into a womb, some say this type of genetic manipulation opens the door to other possibilities in human engineering.

The achievement is an example of human genetic engineering, and is expected to renew ethical concerns that some might try to design babies with certain traits, like greater intelligence or athleticism.

Scientists have long feared the unforeseen medical consequences of making inherited changes to human DNA. The cultural implications may be just as disturbing: some experts have warned that unregulated genetic engineering may lead to a new form of eugenics, in which people with means pay to have children with enhanced traits even as those with disabilities are devalued.

The study, published in the journal Nature, comes just months after a national scientific committee recommended new guidelines for modifying embryos, easing blanket proscriptions but urging the technique be used only for dire medical problems.

 ''We've always said in the past gene editing shouldn't be done, mostly because it couldn't be done safely,'' said Richard Hynes, a cancer researcher at the Massachusetts Institute of Technology who co-led the committee. ''That's still true, but now it looks like it's going to be done safely soon,'' he said, adding that the research is ''a big breakthrough''.

''What our report said was, once the technical hurdles are cleared, then there will be societal issues that have to be considered and discussions that are going to have to happen. Now's the time.''

The Oregon scientists, with colleagues in California, China and South Korea, reported that they repaired dozens of embryos, fixing a mutation that causes a common heart condition that can lead to sudden death later in life.

If embryos with the repaired mutation were allowed to develop into babies, they would not only be disease-free but also would not transmit the disease to descendants.

The researchers averted two important safety problems: they produced embryos in which all cells - not just some - were mutation-free, and they avoided creating unwanted extra mutations.

''It feels a bit like a 'one small step for (hu)mans, one giant leap for (hu)mankind' moment,'' Jennifer Doudna, a biochemist who helped discover CRISPR-Cas9, said in an email to The Washington Post, paraphrasing astronaut Neil Armstrong's famous comment upon landing on the moon.

''I expect these results will be encouraging to those who hope to use human embryo editing for either research or eventual clinical purposes,'' said Dr Doudna, who was not involved in the study.

Much more research is needed before the method could be tested in clinical trials, currently not permitted under US law. But if the technique is found to work safely with this and other mutations, it might help some couples who could not otherwise have healthy children.

Potentially, it could apply to any of more than 10,000 conditions caused by specific inherited mutations. Researchers and experts said those might include breast and ovarian cancer linked to BRCA mutations, as well as diseases like Huntington's, Tay-Sachs, beta thalassemia, and even sickle cell anaemia, cystic fibrosis or some cases of early-onset Alzheimer's.