Genetic Screening for Inherited Conditions

The Human Genome Project first sequenced the Human Genome in 2003, which lead to several breakthroughs in genetic screening which are seemingly miraculous. This technology allows us to actually prevent diseases for which we have no cure. This process is called “carrier screening” and it allows us to screen one partner for any number of genetic mutations which if passed on to their offspring would lead to a known disease.  If one partner were affected, you have the option to screen the other partner, and know the probability of having a child with that condition.  For severely debilitating diseases, you would have the ability to identify which of your embryos had the disease through a process called Preimplantation Genetic Diagnosis (PGD), and prevent passing this inherited disorder to your children.

We have partnered with Counsyl (R) to offer Foresight Carrier Screen ™ to any of our patients who are interested in preventing passing inherited disorders to their children.  Traditionally, carrier screening based on their ethnic background or family history, but this approach missed a great number of affected children.  Eighty per cent (80%) of children born with genetic disease have no family history of the condition.

Counsyl® has devised a panel of 177 serious, clinically actionable, and prevalent conditions which make up their Foresight ™ Carrier Screen.  Cystic Fibrosis is an example of a genetic disease which so profound, screens to determine if one or both parents are carriers have been available for many years.  Now that we have developed the technical means to examine the entire genetic code, the number of identifiable diseases is growing exponentially.  The Foresight Carrier Screen ™ looks for conditions where early treatment can make a difference (such as PKU, or Wilson’s Disease); conditions that cause intellectual disability (such as fragile X syndrome); conditions that shorten lifespan (such as Bloom syndrome); or conditions where there are limited or no treatment options available (such as spinal muscular atrophy).  A full list of conditions screened is available at counsyl.com/foresight/diseases.

If you find out you carry a mutation in a gene, your partner can be screened to determine if both of you carry the mutation on the same gene.  If you are both carriers, there are “actionable” steps that you can take.  These include:

  1. In vitro Fertilization (IVF) with Preimplantation Genetic Diagnosis (PGD) to avoid getting pregnant with an affected child,
  2. Antenatal Testing such as Chorionic Villus Sampling (CVS) or Amniocentesis to see if an inherited disease was passed on to your child,
  3. Preparing for delivery.  Depending upon the diagnosis, you may choose to seek additional support to help plan and prepare for delivery.  In some cases, early treatment can make a big difference.
  4. Explore other family building options.  You can determine whether you want to consider in vitro fertilization (IVF) and Preimplantation Genetic Diagnosis (PGD) where embryos are screened for genetic disease before implantation.  Other options might be adoption, or sperm or egg donation.

Counsyl® assigns each client an identification code upon entry into their system and will then individually work with your insurance to see that you get maximum coverage.  (The cost out of pocket, with NO coverage, is less than $400).  The results come directly to you within about two weeks, and you can speak to a genetic counselor on-demand. They have a bank of fifty (50) certified Genetic Counselors, to help you understand your results and answer your questions and concerns.