Screening Newborns for Cancer Saves Lives

Daniel Oakes was 2½ years old when his mother noticed an unusual glow in his eye. When he moved his head, his right pupil appeared white, like a bleached-out version of the red-eye effect seen in photos. This shining spot turned out to be a sign of retinoblastoma, a rare and deadly eye cancer. By the time Daniel was diagnosed, most of his right eye was filled with tumors. His left eye also had signs of the disease.

Daniel underwent months of treatment, including chemotherapy, radiation, and surgery. In the end, both of his eyes had to be removed and replaced with prosthetics. His family later learned that he had a rare genetic mutation that gave him a 90% chance of developing eye cancer. His sister, Eveyana, born three years later, shared the same mutation.

But Eveyana’s story was different. When she was 6 weeks old, doctors tested her for the mutation and found it early. They closely monitored her eyes and treated small tumors as they appeared. Cancer never spread, and Eveyana avoided the harsh treatments her brother went through. She kept her vision and did not need chemotherapy or radiation.

The two siblings show how important early detection can be. Their experiences are part of a growing effort to expand newborn screening for genetic disorders, including those linked to cancer. For some cancers, identifying at-risk children early could allow doctors to treat tumors before they spread, making treatment less severe and reducing long-term side effects.

However, there are challenges. Not all genes linked to cancer carry a high risk of disease. Doctors must decide which conditions should be included in newborn screening programs and balance the benefits with potential risks.