When one woman whose family had a history of early onset Alzheimer's disease and her husband had trouble conceiving, they turned to fertility treatments, but the woman, herself a physician, was ambivalent about pre-implantation genetic diagnosis, the Wall Street Journal writes.
But she was swayed, it adds, when she learned about a nondisclosure option in which she wouldn't learn her risk of Alzheimer's while ensuring that her children didn't have the familial variant.
The lab, Reproductive Genetic Innovations, gathered a blood sample from the patient and cheek swabs from her parents to develop a panel of genetic markers against which they screened the couple's fertilized eggs. The patient, the Journal says, was never told if she carried the presenilin 1 gene mutation linked to Alzheimer's, nor how many of the fertilized eggs did.
Such nondisclosure PGD, the Journal adds, is rare, but increasing in demand, especially for conditions for which there is no treatment. When patients know something can be done, it notes, they generally want all information possible.
For herself, this patient has a fatalistic attitude: she'll develop the disease if she develops it. But for her 20-month-old twins, "[t]o know that they don't have that daily worry [about developing Alzheimer's], it's priceless," she says.