Genetic Counseling - Is it for me?
RMANJ has always been strong advocates for genetic counseling. We believe that every couple looking to conceive should investigate whether they are at an increased risk to have a child with a genetic disorder. In a short phone call or office visit, these risk factors can be identified and further investigated. This means we can prevent or reduce your chances of having a child with a genetic disorder through the use of IVF and Preimplantation Genetic Testing. See below for a nice FAQ modified from the National Society of Genetic Counselors...
- Who should get genetic testing?
Patients who are looking to conceive should be offered preconceptualgenetic testing. A consultation with a genetic counselor can identify whether the couple are at an increased risk for having a baby with a genetic disease and which tests should be offered. Individuals with strong family histories of inherited diseases or specific cancers should also seek a consultation with a genetic counselor to see if there is a genetic cause.
2. What conditions/diseases can be tested?
As the field of genetic medicine has evolved, our understanding of the genetic basis of diseases has increased exponentially. Over 100 genetic diseases can be tested from a single tube of blood. Many of these are extremely rare, however common diseases such as cystic fibrosis, tay sachs disease, fragile X syndrome and others are important to identify in couples seeking to conceive. The BRCA genes are important causes for breast and ovarian cancer that can be identified. There are other hereditary cancers which can also be identified.
3. What criteria do experts use when referring patients for genetic testing?
Unfortunately, there is still some debate as to who benefits most from genetic testing. At RMANJ, we offer every couple seeking to conceive the opportunity to speak with a genetic counselor who is best qualified to discuss which diseases a couple might be at risk to carry and what tests they should consider.
4. How can genetic testing help patients just by knowing that they’re carrying that gene?
If an Individual is found to carry a gene that predisposes them to a certain disease, such as cancer, early intervention may help prevent severe forms of the disease. For couples looking to conceive, many of these conditions are Recessive, which means that they do not show symptoms of the disease but merely carry it. Since we have two copies of each gene , a good copy can protect an individual and prevent disease. When both members of a couple are carriers of a disease there is a 25% chance they will both contribute the bad copy to their child which will result in illness.
A person’s risk for developing these diseases is specific based on their individual family history and ethnic background. Speaking with a genetic counselor may help identify what diseases you may be at a higher risk to develop and any genetic testing which may help.
If a couple is identified to be carriers of a recessive disease, In Vitro Fertilization with Preimplantation Genetic Diagnosis can virtually eliminate their chances of having a sick child. In this process, sperm and eggs are brought into the laboratory and embryos are created which can then be tested to identify which embryos are healthy and which carry the disease. PGD has made it possible to virtually eliminate these types of diseases when couples are properly screened and identified as carriers.
5. What do genetics counselors do?
Genetic counselors are specially trained healthcare professionals with backgrounds in medical genetics and counseling. These individuals can identifygenetic causes of diseases in indivuals presenting with a disease. They can also identify families that carry a genetic disease or couples at high risk to have a child with a genetic disease. Genetic counselors will speak with a patient, asking them questions about their family history and ethnic background to identify what they may be at risk to carry. Genetic testing can be offered and genetic counselors will be able to counsel on what risk an individual carries for developing or passing on a genetic disease.
6. Is genetic testing covered by health insurance?
Most health insurances cover basic genetic testing for couples seeking to conceive. Each health insurance plan is different, so it is best to check with your provider.
7. Does getting tested open a can of bad worms?
Part of ordering a test is knowing what do to with the results. In some cases knowing you havea predisposition to a disease like cancer may cause psychological stress. It also may prompt your physician to order extra testing which can be time consuming and expensive. However, the potential upside for early detection of a disease or for preventing the birth of a child with a fatal genetic condition may outweight these risks. It is a careful balance that should be considered but genetics are the future of medicine and will likely allow us to live longer, healthier lives.