shutterstock_111268217Understanding the who, what, when, how, and why’s of fertility treatment can be confusing at times. Let’s admit it, sometimes it can be down right scary. Wondering if genetic testing should be a part of your family building plan is a common question we often receive. This month we’ll be exploring a series on genetic testing aiming to help you navigate some common questions and misconceptions when it comes to genetic testing.

Put simply, genes are segments of DNA. Genes are found in chromosomes and they control growth and help you stay healthy. Sometimes, when genes are abnormal or damaged, they may not work properly, which may lead to disease. Some genetic abnormalities, or “gene mutations,” may run in families.

Who should get genetic testing?

Patients who are looking to conceive should be offered preconceptual genetic 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.

What conditions and or 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.

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.

Who does the genetic testing?

Genetic testing is usually performed by a reference laboratory that specializes in genetic testing.  There are several commercial laboratories available.

Preimplantation genetic testing is performed by highly specialized laboratories that have expertise in extracting this information from the small amount of DNA that can be obtained from an embryo biopsy.  It is important to select an IVF clinic and Preimplantation Genetic Diagnosis (PGD) lab with extensive experience in this area as it is more complicated than typical genetic testing.

Is genetic testing covered by health insurance?

Most health insurances cover basic genetic testing for couples looking to conceive.  Each health insurance plan is different, so it is best to check with your insurance provider.


Part 1 Common Questions Asked & Answered

Part 2 The Advantages & Disadvantages

Part 3 Advancing Technologies

Part 4 Inherent Disease