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The Sisters' Treatments

Genomics can already help improve healthcare, writes Kevin Strauss, the medical director of the Clinic for Special Children, at Scientific American.

He recounts a story of three sisters: Esther, the middle child, was born with inflamed skin, patchy hair loss, and a swollen liver. This, he says, indicated that she had Omenn syndrome, which is a rare and lethal type of severe combined immune deficiency. Her older sister, Mary, died young from pneumonia.

Workers at Strauss' clinic homed in on a genetic flaw Esther had that seemed to cause her illness, and found that Mary, too, had had a RAG1 mutation. The clinicians were then able to identify a bone marrow transplant donor among Esther's other siblings to treat her condition.

"The entire process — from clinical presentation to genetic diagnosis to donor identification — took less than two weeks, saved the family about $80,000 and cleared the path to a cure," Strauss writes.

The process was even faster for the youngest sister, Annie. Annie was diagnosed with Omenn syndrome when she was four hours old for a cost of $50, he notes. She also received a bone marrow transplant.

"For this family, help did not come in the form of new knowledge but from choices made about how to use what we know," he adds. "Applying molecular tools to the task was not so much an innovative as a sensible thing to do."