There's a better way to treat children with rare diseases

When my son Leo Wei Church was four months old, he was diagnosed with a genetic disease so rare that only one other patient had been identified with it worldwide. However, "rare disease" is misleading. Altogether, 1 in 11 Americans (as many as 30 million people) are living with a rare disease, half of them children.

This experience opened my eyes to shortcomings in the U.S. health care system — beginning with the long diagnostic journey that robs patients and families of precious time as a disease takes its toll.

Infants and children with enigmatic symptoms undergo a lengthy diagnostic process that often involves invasive and painful procedures. Most never receive a diagnosis in a timely manner, if at all.

On average, the search for a rare disease diagnosis can take five to seven years and involve up to eight specialists and two to three misdiagnoses. A study by the EveryLife Foundation shows delayed diagnoses cost $86,000 to $517,000 per patient for doctor visits, prescriptions, medical equipment, paid caregivers, and accommodations not covered by insurance, not to mention lost wages.

This slow, expensive and inefficient process is unacceptable when solutions exist. Rapid whole genome sequencing (rWGS) is a genetic test that analyzes a patient's entire genome to identify genetic disorders and mutations, returning results in days. rWGS provides faster and more accurate diagnoses while saving the health care system money. Patients receive the most informative and actionable diagnoses and avoid irrelevant and invasive procedures.

Yet barely 100 U.S. hospitals perform this test.

In 2018, the state of California and Rady Children’s Institute for Genomic Medicine launched a study that sequenced the genetic code of 178 critically ill babies. By reducing the diagnostic odyssey to days rather than years, the study reduced charges to California's Medicaid program by $2.5 million, shortened hospital stays by 513 days, avoided 11 major surgeries, and eliminated 16 unnecessary invasive diagnostic tests that would have been performed under general anesthesia.

Health care systems could reinvest those savings into treatments that address the root cause of the illnesses, further improving patient outcomes and quality of life.

The TNPO2 Foundation has partnered with Stony Brook Children’s Hospital and Rady Children’s Institute for a new study called "Project Baby Lion" to give critically ill children on Long Island access to rWGS. Directed by Dr. Thomas Diacovo, chief of neonatology at Stony Brook, the study will fund rWGS for 20 patients in Stony Brook's neonatal intensive care unit; at least 40% are expected to receive diagnoses.

"Project Baby Lion" is the first step in growing the practice of genomic medicine on Long Island and within New York State. Embracing rWGS as the standard of care can dramatically improve the outcomes of infants with rare diseases.

Fortunately, we are not alone in this mission. Fourteen states, including Connecticut, have passed bills for Medicaid coverage of rWGS; a bill in the New York State Legislature would allow Medicaid to cover rWGS in the NICU. This would be a great first step in systemic change and an opportunity for New York to be a trailblazer in genomic medicine.

By making rWGS more accessible, critically ill babies can receive the swift, focused care they deserve, with valuable dollars and resources being redirected to treatments and therapeutics that improve their quality of life.

Change is at our fingertips, and the lives and health of our children depend on it.

This guest essay reflects the views of Yiwei She, a resident of Setauket and founder of the TNPO2 Foundation, which works to accelerate access to cures for children with rare diseases.