Genetic counseling is the process of determining the risk you have of passing an inheritable disease to your baby. Genetic counseling involves a specially trained health care professional who identifies families at risk, investigates and identifies the problem present in the family, interprets information about the disorder, analyzes inheritance patterns and risks of recurrence, and reviews all available options with the family.
The questions asked will target information surrounding diseases like diabetes,
hypertension and cancer. You’ll be asked about genetic diseases like cystic fibrosis, hemophilia and
muscular dystrophy. Questions will be asked about mental health history in your family (autism,
mental retardation or any other kind of genetic defect). Genetic counseling should be considered by couples who have one or more of the following risk factors:
- Abnormal results from routine prenatal testing.
- Amniocentesis results that identify a chromosomal defect.
- A child of either partner with a birth defect or genetic disorder.
- An inherited disease present in a close (blood-related) family member.
- A woman over 35 years of age planning on becoming pregnant or already is pregnant.
What to Expect…
When working with a genetic counselor, you will create a comprehensive background on specific diseases and why they occurred in both you and your partner’s blood relatives. To help facilitate the evaluation, you may be asked a number of questions surrounding family physical and mental history. The questions asked will target information surrounding diseases like diabetes, hypertension and cancer. You’ll be asked about genetic diseases like cystic fibrosis, hemophilia and muscular dystrophy. Questions will be asked about mental health history in your family (mental retardation or any other kind of birth defect). You’ll also be asked if twins run in your or your partner’s family or if any of your female relatives had problems with a pregnancy. Life choices can also affect a pregnancy; questions surrounding tobacco, alcohol and drug use will be asked. And lastly, you’ll be asked about your and your partner’s ethnicity. Be thorough with your answers and if you’re unsure, don’t hesitate to ask a family member.
Expanded Carrier Screening
Your doctor may have recently discussed the option of performing InheriGen. InheriGen is a comprehensive carrier screen that tests for over 183 inherited diseases. InheriGen is a pan-ethnic test, which means that the diseases tested can occur in many different populations. Certain ethnic groups have a greater chance for certain genetic defects:
- African Americans = Sickle Cell Anemia
- Central or Eastern Jews = Tay-Sachs Disease
- Italian, Greek, Middle Eastern = Thalassemia
To learn more about expanded carrier screening, we invite you to watch the InheriGen Pre-Test Counseling Video provided by GenPath Diagnostics.