Shady Grove Fertility Center announces a new and more sophisticated genetic screening method that evaluates the likelihood that a couple could pass on known, suspected, or silent genetic disorders to future children.
Genetic screening is certainly not new. Every time we go to the doctor and fill out forms that describe our medical history, family history, and ethnic backgrounds, we are being evaluated for the possibility of known or silent diseases that may have been passed down to us through our parents or grandparents.
Much of this has changed with advances in reproductive medicine. In addition to the insight gathered through the medical and family history, couples undergoing fertility treatment can now do a simple saliva or blood test as a routine part of their treatment preparation to determine if they might be an unsuspecting carrier of one of the 12 more common recessive genetic abnormalities, such as Cystic Fibrosis, Sickle Cell Anemia or Tay Sachs.Doctors assess our risk and may order tests to rule out or confirm suspected disorders. Based on the results, doctors can be watchful for early signs of disease, and offer advice on prevention or treatment of the disease should it emerge. This historically meant advising parents that they may be at increased risk of having an affected child and offering prenatal testing — such as amniocentesis or chorionic villus sampling (CVS) — to detect the disease early in pregnancy.
The good news is that over 95% of the test results will identify nothing abnormal and patients will move forward with treatment as planned. Because these are recessive diseases, both parents must be carriers to be at risk for having an affected baby. If a couple is at risk, they can move into In Vitro Fertilization (IVF) with pre-implantation genetic testing of their embryos, called PGD.
New Genetic Screening Options at Shady Grove Fertility
The American College of Obstetrics and Gynecology and American College of Medical Genetics recently updated their genetic testing recommendations for women planning a pregnancy.
Based on these recommendations and because evolving technology has made the testing process so easy, Shady Grove Fertility is now recommending that all patients consider taking a genetic test; even those who have already been through a treatment cycle. The new genetic test is referred to as ‘Counsyl’ by our physicians and staff.
“While there are no guarantees in life, this test is very, very reliable for screening out genetic diseases”, explains Eric A. Widra, MD a board certified reproductive endocrinologist at Shady Grove Fertility. “Even if a couple believes they do not have any genetic risk factors that they can pass on to their children, it’s nice to know that a simple test can provide confirmation.”
The Counsyl test is a vast improvement over previous screening capabilities. In the past, while genetic screening was available to everyone, only patients with known or suspected genetic risks or with certain ethnic backgrounds were recommended to undergo genetic testing. Each disease had to be ordered as a separate test, which was both time-consuming and expensive. Counsyl reduces both time and cost by screening for several recessive genetic disorders in a single test, and is often covered by insurance.
Initially, only one partner will need to be tested. For recessive disorders to affect a future child, BOTH parents must carry the abnormal gene. If one partner is positive, we then screen the other prospective parent to see if they are both carriers.
While Counsyl is now the first line of genetic screening, patients with specific genetic histories and those in certain ethnic groups, including African American, Asian, Ashkenazi Jewish, French Canadian and Cajun, may need an additional blood test to complete their genetic profile. This additional test is designed to detect risks that can’t be identified by Counsyl alone.
If the Counsyl or blood tests come back negative, that means that the patient who was tested is not a carrier of any of the tested diseases. In this case, the couple can proceed to treatment without further action. If the tests are positive, it means that the patient is a carrier of one or more of the diseases in the panel. In this case, the other partner in the couple needs to be tested. In the majority of cases, the second partner tested will not be a carrier and the couple can proceed on to treatment without any further action.
“I always remind my patients that a positive doesn’t mean you have the disease,” says Dr. Widra. “This is just screening, not a diagnosis. A positive means we should do further testing, discuss the potential risks of passing down the genetic disorder to future children, and offer a consultation with a genetic counselor, if necessary.”
Preventing Genetic Disease
While the odds are less than 1%, should BOTH partners’ test results come back positive for the same genetic abnormality, our physicians will discuss the option to undergo In Vitro Fertilization (IVF) with an advanced reproductive technology called Pre-implantation Genetic Diagnosis (PGD). By utilizing this method of treatment, patients can have their fertilized embryos screened for the genetic abnormality. This facilitates the transfer of unaffected embryos into the uterus. This way, patients can prevent passing on the genetic disease to their child.
Genetic Screening Made Easy
The new genetic screening test by Counsyl is simple and convenient. Patients no longer need to make a separate visit to a lab, as at-home-test kits are easy to follow and results are provided in about three weeks. Best of all, tests are covered by many insurance plans.
“The ability to screen for all possible inherited genetic disease may still be a long way off , these new advances are big step in the right direction.”’ summarizes Dr. Widra. “The benefit to patients is an additional level of comfort and confidence as they move forward on the path to parenthood.”