How smart usage of sequencing can reduce the medical bill in rare disease cases
They knew because of the death of an earlier child that this family had an elevated risk for SCID (in this case a mutation in the IL7R gene). By using sequencing at birth they could determine that the baby had the same disease and within 24h the correct treatment was picked and within 16 days applied.
Not only did this save the baby's life it also saved lots of money:
'Kendra's total medical bill was US$12,000 — compared with $500,000 for her brother. And she is doing well today.'
From the article:
'“This is what genomic medicine is supposed to do,” Strauss says. “If you know which people are at risk, you can determine a diagnosis before a child is 24 hours old. You can come up with a treatment based on the genetics.”'
#personalgenomics #sequencing #raredisease
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Rare diseases: Genomics, plain and simple : Nature News & Comment
A Pennsylvania clinic working with Amish and Mennonite communities could be a model for personalized medicine.
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