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Before It Is Inherited

In an opinion piece at Wired, Lee Cooper writes that some rare genetic diseases can be avoided through prevention, namely through pre-implantation genetic diagnosis and in vitro fertilization.

At age 29, Cooper, who works for a biotech company, had a heart attack in his sleep that, fortunately, his wife noticed and administered CPR for. Cooper, it turns out, has Long QT Syndrome, a rare genetic disease caused by a single-gene mutation that increases his risk of sudden arrhythmias and death. He writes that he now has a surgically implanted defibrillator.

Cooper says that while rare genetic diseases are individually rare, they collectively are common, and he says a number of cases could be prevented through pre-implantation genetic diagnosis and IVF. However, he says that healthcare professionals, advocacy groups, and biotechs don't often discuss disease prevention though family planning and IVF.

"From a bioethical perspective, screening for morbid monogenic diseases is widely accepted, and easily differentiated from screening for non-disease-related traits," Cooper argues. "Further, selecting away deadly genes would be more palatable than high-risk, emerging alternatives such as gene-editing embryos."

He notes that IVF is expensive and can run $25,000, but he says it could save $300,000 in annual medication costs.