Asking one's physician for a "favor" generally means asking for something outside of what the physician would normally and customarily do. When that favor also involves asking the physician to step outside his or her specialty, the warning bells should start ringing. Pealing, actually.
A 34-year-old construction manager with a history of Klippel-Feil syndrome and scoliosis visited Dr NS, a neurosurgeon, for a checkup on his original diagnosis and to check on a lump on his lower back. Upon examination and an MRI, Dr NS noted a congenital fusion of C2, C3, and C4 and a small hemangioma.
During the initial visit, however, the man told Dr NS that he and his wife, a nurse at the hospital where Dr NS was on staff, wanted to have a child, and that because his wife was positive for cystic fibrosis, he wanted to be screened himself. After that discussion, blood was drawn for a "CFTR intron poly T" analysis. The results of that test stated: "DNA testing indicates that this individual is negative for the 5T allele in the cystic fibrosis (CF) gene. This assay analyzes only the poly T tract of the CF gene. It does not analyze any mutations commonly associated with a clinical diagnosis of CF."
When the patient returned to Dr NS 5 weeks later, Dr NS advised him of the MRI findings, discussed some increased risk for adjacent level disease at C5-C6, and recommended that he follow up as needed. Though Dr NS recalls telling the man of the negative cystic fibrosis test result and advising him to follow up with his primary care physician and his wife's ob/gyn, Dr NS's records contain no reference to that discussion.
The next year, the patient's wife suffered a miscarriage. Her medical records with her ob/gyn showed no discussion of cystic fibrosis. When the wife, age 35, was seen for another pregnancy 5 months later, she indicated on her obstetric questionnaire that she was a cystic fibrosis carrier. An "OB intake" note created 2 weeks later stated that the wife was a cystic fibrosis carrier and that her husband's CF screening was negative. Prenatal chromosome screening was requested, but not screening for cystic fibrosis. The family history for genetic conditions on the order form was marked "no" and no referral to a genetic counselor was noted.
© 2020 Cooperative of American Physicians, Inc.
This case comes from Medicine on Trial, originally published by Cooperative of American Physicians, Inc., to provide risk management lessons from litigated case histories.