‘Computer fluke’ that led to birth of baby girl carrying BRCA1 gene eliminated

Such a defective gene significantly increases her risk of getting breast and/or ovarian cancer in another 30 years or more.

By JUDY SIEGEL-ITZKOVICH
Newborn baby [Illustrative] (photo credit: INIMAGE)
Newborn baby [Illustrative]
(photo credit: INIMAGE)
A change in a computer program three years ago can prevent a “technical, one-in-a-million fluke” at Jerusalem’s Shaare Zedek Medical Center that resulted in the 2011 birth of a baby girl who carries the BRCA1 gene. Such a defective gene significantly increases her risk of getting breast and/or ovarian cancer in another 30 years or more -- but by then, the genetic problem could be solved and the risk eliminated.
It was the first such error of any kind involved in pre-implantation genetic diagnosis (PGD) of embryos at SZMC’s Zohar Preimplantation Genetic Diagnosis Unit since it opened 10 years ago. Since PGD was first offered there, nearly 400 healthy babies have been born to families who are carriers of serious genetic defects.
The modern Orthodox parents of the three-year-old child have filed a lawsuit against the hospital, according to their lawyer, who spoke to Yedioth Aharonot on Wednesday. But the basis for the suit is questionable, as there is apparently no precedent of a case against a hospital performing PGD that resulted in the implantation into the womb of a healthy embryo that carries a possible disease in the future.
As one of the parents is the carrier of a severe connective tissue disease that would have affected the child from adolescence, as well as of BRCA, the embryos were tested for both conditions. The presence of the actual disease would have been much more critical, said Prof. Gheona Altarescu, who directs the PGD unit.
She told The Jerusalem Post that “it was an unfortunate error, and I hope we don’t have another one. The woman had two in-vitro fertilization cycles within a few months, each with the same number of embryos produced, and when the results of one of them was printed, it was mistaken for the results of the other one on different embryos. As a result of the error, the software company that provided the program used in the unit made a change in which every month, a new file is created for the patient so test results cannot be mistaken.
Altarescu said that if the mother had undergone amniocentesis (invasive sampling of fetal tissue), the BRCA1 gene would have been detected. “But they refused, saying they feared the rare possibility that the amniocentesis might have caused a miscarriage; they stated this in writing. In any case, no one has aborted a PGD fetus for carrying BRCA1. The baby who was born is their only child but is healthy, without the serious disease.”
Prof. Ephrat Levy-Lahad, director of SZMC’s medical genetics institute that includes the PGD unit, added that “carrying BRCA1 was only secondary to the severe disease the baby could have been born with. It was a bizarre paper error that won’t happen again due to changes in the computer program. We are very unhappy it happened, but all PGD units in the country have had errors. Nobody knows whether in decades, the child will get cancer, but then, it could be that having the BRCA1 gene is something preventable or treatable like pneumonia has become.”