What is a Genetic Profile?

young asian womanAs part of your egg donor screening process, you will have the opportunity to have a genetic profile completed. For many egg donors, the idea of a genetic profile can sound a bit intimidating. Rest assured that the profile is no more than a look at your genetic make-up, intended to help intended parents make the best choice possible when considering egg donors. This profile is completed at no cost to you, and could provide you with invaluable information should you choose to start your own family in the future.

The profile is compiled following a simple blood or saliva draw. It will highlight if you are a carrier for any potential genetic diseases or disorders. Here’s a look at a few of the 314 conditions the profile is able to detect in your genetic make-up.

  • Alpha-Thalassemia—A blood disorder that limits the production of hemoglobin. A protein found in red blood, hemoglobin carries oxygen to cells in the body.
  • Beta-Thalassemia— Another blood disorder impacting the production of hemoglobin in the blood. Individuals with this disorder often develop serious anemia within the first two years of life.
  • Cystic Fibrosis (CF)— This is a genetic disorder that is well known for its negative impact on the lungs. However, it can also cause damage to the pancreas, liver, kidneys, and intestines. This condition often leaves sufferers with a plethora of problems including difficulty breathing, frequent lung infections, and potential infertility in males. There is no cure.
  • Fragile X Syndrome—This genetic syndrome has been linked to many intellectual disabilities, especially in males. Experts report that nearly half of all children diagnosed with Fragile X syndrome will meet the criteria to support an Autism diagnosis.
  • Sickle Cell Anemia—A hereditary blood disorder, this disorder is characterized by abnormalities in the oxygen carrying molecules in red blood cells. Complications can include severe infections and a higher likelihood of stroke.
  • Spinal Muscular Atrophy (SMA) —This is a recessive disorder marked by a defect in the gene responsible for encode proteins. While it can pop up with a wide range of severity, those with this disorder are likely to experience muscle wasting (called atrophy), typically beginning with the lungs. This disorder is believed to be the most common genetic cause of infant death.
  • Tay-Sachs Disease—A rare genetic disorder, this condition attacks nerve cells, causing deterioration of both mental and physical abilities. Those with a positive Tay-Sachs diagnosis generally display symptoms at around six months old, with many not living past their fourth birthday.

Understand that this test is not a diagnostic tool. Being a carrier for any one of these conditions does not mean that you will develop it personally. The test is meant to help intended parents who may also be carriers of certain disorders to better choose genetic material that is less likely to result in these conditions being passed to their future offspring.

If you have additional questions about genetic profiling and what it means for you, please do not hesitate to bring your questions to your case specialist.

Kim Bergman, PhD, a licensed psychologist of 26 years, has specialized in the area of gay and lesbian parenting, parenting by choice and third party assisted reproduction for over two decades. Dr. Bergman has created a comprehensive psychological screening, support and monitoring process for intended parents, surrogates and donors. She is the co-owner of Growing Generations and is a member of the American Society for Reproductive Medicine, the American Psychological Association, the Los Angeles County Psychological Association, the Lesbian and Gay Psychotherapy Association, and the Gay and Lesbian Medical Association. She is on the national Emeritus board of the Family Equality Council. Dr. Bergman writes, teaches and speaks extensively on parenting by choice. Along with co-authors, she published “Gay Men Who Become Fathers via Surrogacy: The Transition to Parenthood” (Journal of GLBT Family Studies, April 2010). Dr. Bergman’s is the author of the book, Your Future Family: The Essential Guide to Assisted Reproduction (Conari Press 2019) as well as the children's book You Began as a Wish (Independent Press 2019). Dr. Bergman created her own family using third party assisted reproduction and she lives with her wife of 35 years. She has two adult daughters.