Genomic Sequencing Saves Father and Four Children

Recently Columbia oncologists diagnosed a toddler with acute myelogenous leukemia, and thanks to The Sohn Foundation for Precision Medicine, the entire family underwent genetic testing. Three of his siblings were found to have a gene linked to thyroid cancer. Their father was the carrier. Dr. Kuo found a suspicious thyroid nodule in his neck and with ultrasound-guided fine needle aspiration biopsy diagnosed medullary thyroid cancer, a rare and aggressive form of this disease. She operated the following week. “With our early intervention,” she says, “there is a very good chance that the father has been completely cured and will remain cancer-free.”

Four of the family’s five children carry this same mutation and will develop medullary thyroid cancer as they age. “Fortunately this particular gene usually kicks in later in life, so we may not need to intervene until the kids are teenagers.” Says Dr. Kuo. “Our multidisciplinary team recently met with the parents to discuss when to perform a prophylactic thyroidectomy, what other diseases should we should be on the lookout for, and when to talk to each of the kids about ther disease, given their different personalities and ages. This is personalized medicine at its best. Thanks to genetic testing, five out of seven family members were saved.”

Learn more about the Sohn Foundation for Precision Medicine at Columbia
Learn more about genetic testing at NYP/Columbia here