What is Pre-Conception Carrier Screening/Genetic Testing?

Pre-conception carrier screening is a genetic test that can determine whether or not you carry a gene for certain genetic disorders. In the case of GNE Myopathy, genetic screening can tell you if you have a mutation in the GNE gene, which can cause the disease.

How is Pre-Conception Carrier Screening Done?

DNA analysis can be done using blood or saliva.

Who Should be Screened for Genetic Diseases?

The simple answer is that everyone who is related to a carrier or a person affected by genetic disease and everyone who plans to have a family should be screened. Although the chances of having a child with a genetic abnormality is usually small, persons of certain ethnic and geographically defined groups can have higher than average chances of passing on specific genetic disease. GNE Myopathy (HIBM) has been disproportionately found to effect people of European, Middle Eastern, and Asian descent.

Because GNE Myopathy is a recessive disease, at least one person from every couple should be screened. If he or she tests positive, the other person should be screened. Some couples decide to be screened at the same time in order to avoid waiting between results.

When should I get Screened for Genetic Diseases?

The best time to be tested for genetic diseases is before you plan to get pregnant.

Image depicting a chart of a carrier father and a carrier mother, with lines leading to 1 non-carrier child, 2 carrier children, and 1 affected child.

What does it mean to be a carrier?

A carrier is a person who has a mutation in one of two copies of a particular gene. Because carriers have a second, working copy of this gene, they will not develop symptoms of the disease, but they can pass the mutated gene to their children.

Giving birth to a child with GNE Myopathy is only possible when BOTH parents are carriers of the mutated gene.

Where/How can I get Pre-Conception Carrier Screening Done?

There are many places to be screened – your physician’s office, a hospital, a medical genetics program. Be sure to make your practitioner aware that you are seeking screening specifically for GNE Myopathy. Regardless, it is important that results of your tests be discussed with a genetic counselor.

For assistance finding a genetic counselor near you, visit The National Society of Genetic Counselors or contact us for a referral.

There are also easy at-home options for screening:

Jscreen is a national genetic screening program that provides comprehensive testing that is done in the convenience of your home. Participants only need to register online and pay a set fee. Once their registrations have been reviewed by a genetic counselor, the participant receives a saliva kit in the mail and sends their sample directly to the lab. Results are reviewed and disclosed by a genetic counselor by phone or video conference.

Dr. Valles lab at Firma Lab is another option for domestic and international testing. When placing your order, be sure to mention the Neuromuscular Disease Foundation (NDF) to receive a discount and include this form when you return your sample.

In this episode of The Fertile Life podcast, Dr. Shahin Ghadir, Fertility Specialist, and former NDF Board Member sits down with NDF’s Emotional Wellness Director Carol Gelbard, LCSW, to discuss genetic testing and informed family planning.
Dr. Shahin Ghadir and Carol Gelbard, LCSW, also talk about PGD preimplantation genetic diagnosis, a tool used to reduce the risk of passing on inherited conditions. This informative discussion is here to empower prospective parents by helping them make informed reproductive choices.

For more information about genetic screening, IVF, and family planning, we invite you to explore the many topics discussed in The Fertile Life by Dr. Shahin Ghadir. Through insightful conversation, Dr. Shahin Ghadir creates a guide for listeners in all stages of life, as well as breaks stigmas often associated with fertility.

Interested in learning more or getting involved in educating more people about GNE Myopathy and/or genetic testing?

The NDF Ambassadors is a group of motivated, young professionals focused on spreading awareness of GNE Myopathy. Their mission is to eliminate GNE Myopathy by raising awareness and promoting genetic screening in order to stop the passing down of the faulty gene to future generations.
Learn more about them here.

NDF is proud to be a member of the Jewish Genetic Disease Consortium. The JGDC is an alliance of non-profit organizations sharing the common goal of combating genetic diseases. While each JGDC member organization has its own individual mission, the JGDC unites these organizations to jointly strengthen public education and awareness about appropriate carrier screening.
Click here to view a fact-filled, short video about carrier screening for parents-to-be, produced by the JGDC.