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.
There are thousands of physical conditions and diseases that have been linked to specific genes, or to certain parts of our genetic material which can be 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 if her blood type is identified as Rh negative, and if her partner is Rh positive, then she can be given treatment (Rhogam) to prevent future children from being negatively 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% 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 diseases 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 is used at RCC is the Universal Genetic Test by a company named Counsyl.
This test is performed 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 $350 for all of these tests to be done. A few years ago it would have cost significantly more just one of those tests done.
In addition, Counsyl is working with many insurance companies to get these tests covered by insurance since it costs a lot less to avoid the diseases than to treat them for a lifetime. A tremendous benefit of using Counsyl testing is 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. Counsyl also has a program covering the cost of preimplantation genetic testing (to help prevent transmitting the disease) if the original testing was done through Counsyl.
The American College of Obstetrics and Gynecology, the American College of Medical Genetics , and RCC, all recommend screening for testing such as Cystic Fibrosis and Spinal Muscular Atrophy.
Even if patients have had normal, unaffected children, it is still important to consider carrier testing due to a 25% risk for each future child if both partners are unknowing carriers of a genetic disease. Testing helps prospective parents 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. Additionally, testing helps prospective parents know if they have any genetic conditions which may affect them in their later years.
