Genetics is one of the fastest growing and most exciting areas of modern medicine. A few years ago, the amazing project of mapping the entire human genome was complete.
This could be compared to Google maps of the entire planet earth, from satellite pictures of your individual house, to maps and directions to millions of places, large or small, on the planet. There are likewise thousands of physical conditions and diseases that have been linked to specific genes, or to certain parts of our genetic material, which can be located and tested.
Many of these conditions are "recessive", meaning both mother and father must be affected by the condition, or be unaffected carriers of a gene mutation, in order for the condition to be passed on to the next generation. One of the major benefits of genetic research is that tests have been developed to identify and locate these conditions so they can be avoided.
Genetic tests can be compared somewhat to blood type testing. For decades, blood type testing has been required of pregnant women, so that if her blood type is identified as Rh negative, and if her husband is Rh positive, then she can be given treatment (Rhogam) to prevent future children from being adversely affected by Rh sensitivity disease.
In a similar manner, today a woman can be tested to see if she is an unaffected carrier of Cystic Fibrosis, and if she is, her partner can be tested, and if the offspring is at risk, technology can be utilized to prevent the occurrence of the disease in a child. Cystic Fibrosis is the most common significant genetic disease in America, with approximately one out of 29 people being unaffected carriers, and more than one in 3,000 children being affected. It is a life altering and life shortening condition which can be completely eliminated with modern technology.
For those who are carriers, about 80% of the time they have no family history of cystic fibrosis. There are likewise hundreds of other life altering conditions that can be tested for, identified, and avoided using modern technology. Some of these are more serious than others. Some affect us throughout life, and others only affect more as we get older. All of them are a part of our makeup which is a nice thing to be able to inform our offspring of, since they may also potentially affect our children or grandchildren, even if they do not affect us.
There are many companies which have commercially available genetic test kits available for affordable prices. One that we like to use at the Reproductive Care Center is the Universal Genetic Test by a company named Counsyl. This test is done by analyzing DNA from cells excreted in our saliva, so no blood draw is required. It tests for over 100 of the most common and important recessive and important genetic conditions, including Cystic Fibrosis, Thalassemia, Blood disorders, Tay Sachs Disease, Sickle Cell Disease, Spinal Muscular Atrophy, and many others.
It is simple, and inexpensive, costing approximately $349 for all tests to be done. A few years ago it would have cost more to screen for just one of these genetic diseases. In addition, Counsyl is working with many insurance companies to get these tests covered by insurance as well, since it costs a lot less to avoid the diseases than to treat them for a lifetime.
A tremendous benefit of using the Counsyl testing is that if a gene mutation for one of the tested conditions does show up, the company provides expert genetic counseling to explain the findings at no additional charge.
A similar test, offered by Natera, also has a program for covering the cost of preimplantation genetic testing (to help prevent transmitting the disease) if the original testing was done through Natera.
The American College of Obstetrics and Gynecology, the American College of Medical Genetics, and Reproductive Care Center, all recommend screening for testing such as Cystic Fibrosis and Spinal Muscular Atrophy. Reproductive Care Center believes that this can be provided by Universal Genetic Testing (Counsyl) and recommends this test for anyone considering having children.
Even when couples have previously had normal unaffected children, it is still important to consider carrier testing because if both partners are unknowing carriers of a condition, there continues to be a 25% risk for a future child to be affected. It helps those tested know if they have any genetic conditions which may affect them in their later years; it also helps them to avoid significant conditions that their children may be at risk for, and allows testing and technology to be utilized which can prevent transmission of those diseases.
We encourage you to ask us, or other sources of medical information, for further details on how these tests can benefit you and your family.