RIVER WEATHERBY is an energetic 2-year-old, all thanks to a groundbreaking trial of genome sequencing for sick newborns. Sequencing his genome revealed that he had a rare disease, and he has thrived since getting treatment (see 鈥淩apid genome sequencing helps save hundreds of critically ill babies鈥�).
More good news comes with the development of a cure for sickle cell, a devastating condition affecting 7 million people worldwide, using CRISPR gene editing (see 鈥淪ickle cell disease is now curable, but the treatment is unaffordable鈥�).
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Cases like these show the power of a new healthcare revolution that is under way 鈥� one that was predicted as far back as the first draft of the Human Genome Project in 2001. Finally, genomic technology can identify the exact cause of many conditions and, in a growing number of cases, also treat and cure them.
Yet there is a big 鈥渂ut鈥�. The sickle cell cure will be extremely expensive. And for many other genetic conditions, there are no treatments at all.
This is why the focus should be on prevention, not cures. Some genetic disorders are the result of spontaneous mutations in egg or sperm cells and can鈥檛 be averted. But most are preventable by carrier screening of would-be parents. One option for couples at risk of passing on genetic conditions is in vitro fertilisation (IVF) with pre-implantation genetic testing to choose embryos free of the disease-causing mutations.
Screening becomes more complicated when it comes to conditions caused by many gene variants in combination (see 鈥�New DNA tests predict your disease risk 鈥� are we ready for them?鈥�). It isn鈥檛 possible to obtain enough IVF embryos to choose among to prevent these polygenic disorders at present, but that could change if researchers find ways to generate unlimited numbers of human egg and sperm cells from stem cells 鈥� as they have in mice.
This would open up other possibilities, including allowing same-sex couples to have children that share their genes (see 鈥�Mice have been born from eggs derived from male cells鈥�), and, controversially, the selection of desirable traits to make designer babies.
The long-promised genomic healthcare revolution is arriving at last 鈥� now it is also time to decide what we do with it.
