Some genetic disorders are apparent since birth (Down Syndrome), while others may develop at childhood, adolescence or adult life. Among adult-onset genetic diseases are neurodegenerative conditions (Alzheimer’s, Huntington’s), cardiomyopathies and cancer susceptibilities.
There are adult-onset diseases which may be triggered by environmental or other factors, and for that reason it is possible that the predisposed person may never develop them during their entire life. Some types of cancer (breast cancer, ovarian cancer) and heart disease belong to this category of late onset diseases. The second type of adult onset disorders, (e.g. Huntington’s) will appear regardless of other causes besides the inherited single gene responsible.
Preimplantation Genetic Diagnosis (PGD) may show the predisposition for these genetic diseases. This means that the couple’s desired child runs the risk of developing these disorders later in life. Couples opting for in-vitro fertilization (IVF) for their infertility treatment may choose to combine a PGD test to screen their embryos for a late onset disease reported in their family history.
For example, knowing that for the time being there is no cure for Alzheimer’s disease, the couple may not want to risk transmitting such a painfully alienating condition to their offspring. The appropriate genetic testing would thus be an advisable option.
If you have a relative who has a late-onset disease, and are planning to have a baby, you could…
Dr Paraschos participated in the world's first PGD.