“Preimplantation Genetic Diagnosis (PGD) is an outstanding way to help families eradicate genetic diseases and/or the genetic component of a disease such as hereditary Breast Cancer, ovarian cancer, and prostate cancer” says Elena Trukhacheva MD, MSCI and partner in Reproductive Medicine Institute (www.teamrmi.com) in Chicago. “Rather than facing the issue of what to do when you know you carry a gene, medicine and technology have come up with solutions so that generations to come may not even have to make those difficult decision.” In families that carry BRCA 1 or BRCA 2 genes, not only the girls are more likely to develop breast and ovarian cancer, but the boys are also more likely to suffer from prostate cancer. The boys can also “give” these genes to their daughters, passing along the disease through generations.
When BRCA1 or 2 runs in the family, careful monitoring can promote early detection and treatment of cancer, and improve survival. Preventative surgery, the route Angelina Jolie took, can significantly reduce the chances of cancer in the future by 90% or more. However, pre-implantation genetic diagnosis can actually be the least invasive, and least traumatic strategy, both emotionally and physically. PGD can also do something even more important…eliminate the mutated genes and transform the ‘high risk’ families into ‘normal ‘ones.
First, individual genetic testing must be done through a simple blood test to determine whether BRCA 1 or 2 is present. Once the specific genes are identified, screening of embryos for these mutations became possible through IVF with PGD. When IVF is combined with PGD, the embryos can be created and tested for specific mutations, including BRCA 1 and 2, and only mutation-free embryos used for transfer in the future.
By utilizing this approach, generations to come can thank their parents for passing on healthy genes and avoiding difficult decisions, and disease, in the future.
We’ve come a long way. Pass it on!