Bina Venkataraman (The Washington Post)
July 26, 2023
The day a young boy ends up in the hospital with liver failure is not the best time for his parents to find out they might have prevented the problem by giving him a zinc supplement from an early age. The day a small girl has a seizure that results in irreversible brain damage is the wrong time to learn she has a genetic mutation that, if diagnosed at birth and managed with a high-fat diet, would not have meant lifelong intellectual disability. And no one wants to find out that a baby who died in her crib could have been saved with a DNA test and an inexpensive medication.
Yet, most people in the United States today who have Wilson’s disease, a rare genetic condition that overloads the body with copper, poisoning the liver; glucose transporter deficiency, which triggers seizures; or Long QT syndrome, which causes sudden infant cardiac arrest, get a diagnosis only after something goes seriously wrong. Hundreds of treatable genetic diseases go unnoticed for years — not because they cannot be diagnosed, but because newborn screening for them is not routine in the United States. If biomedical breakthroughs are to benefit the millions of children afflicted with rare diseases, genetic testing of babies needs to expand.
This is an urgent problem for families now, but its solution could also pave the way for a future in which doctors can treat many more rare, intractable diseases. By screening newborn genomes for currently known genetic diseases, patients and scientists could gain insights that lead to the treatment and prevention of thousands of illnesses that currently lack cures.
Today, most families with children who suffer from rare diseases embark on what researchers and patient advocates call “the diagnostic odyssey.” The average time from the appearance of mysterious symptoms to getting an accurate diagnosis for a rare disease is, by some estimates, about six years — a time during which children get no potentially lifesaving care and families know too little to participate in policy advocacy or clinical trials that might bring forth new treatments. Whether a child gets tested for a genetic disorder often depends on whether a doctor recognizes the signs of a rare disease and if families can afford extensive tests when insurance doesn’t foot the bill.
WP Company. (2023, July 26). Opinion | Too many treatable diseases go unnoticed. this could change that. The Washington Post. https://www.washingtonpost.com/opinions/2023/07/26/newborn-genetic-screening-preventable-illness-treatments/