Preventing Rare Genetic Diseases – Wired Opinion article

In the Wired Opinion article, “A Radical Proposal For Preventing Rare Genetic Diseases”, the author delves into the scary reality facing Lee Cooper, a 29-year old man who recently suffered a sudden cardiac arrest while sleeping. Compounding that horrible experience, Mr. Cooper found out that the cause of his cardiac arrest was actually a rare genetic disease called Long QT Syndrome (LQTS), which he inherited from his mother. After learning of his diagnosis, Mr. Cooper and his wife began to worry how this rare disease may affect their future family. Although most people will not be stricken by LQTS, those afflicted with LQTS have a 50 percent chance of passing it on to their children. The Coopers had to ask the hard question: could they risk starting a family, knowing that they have a 1 in 2 chance of their unborn children inheriting this deadly disorder?

The Coopers began researching their options, and discovered that in vitro fertilization (IVF) allowed them the opportunity to remove LQTS from their family tree all together. By using a procedure called Preimplantation Genetic Screening (PGS), doctors will be able to analyze the health of the Coopers embryos. From that screening, they will be able to determine if the embryos test positive for LQTS. This technique is called Preimplantation Genetic Diagnosis (PGD). The Coopers were surprised to find their doctors were “reticent” to discuss IVF with them, and the benefits that come with using the PGS and PGD processes.

The author describes the common misconception that most people have that IVF is only used to help people with fertility problems. Instead, the reality is that IVF can be used for many purposes: gender selection of children, fertility preservation, and genetic disease prevention. The article cites that roughly 30 million people in the United State (i.e., one out of ten people) are afflicted with some form of rare genetic diseases. Genetic testing and IVF can help save these people and their future families, by stopping the dissemination of deadly mutations and diseases from the afflicted gene pools. In a world where health costs are skyrocketing and quality health care is shrinking, prevention of those afflicted with “bad luck in a genetic lottery” is as important as ever.