If you’re a parent-to-be or are considering starting a family, you may be wondering about parental genetic counseling. What is it? What’s involved? Is it mandatory?
What is Genetic Counseling?
Genetic counseling is a process in which a healthcare professional helps you understand the risks and benefits of genetic testing and provides advice on what to do if you receive a positive test result. Genetic counselors can also provide support and guidance to families who have a history of genetic conditions.
If you’re considering having children, it’s important to understand the role that genetic counseling can play in your decision-making process.
Why Should you see A Genetic Counselor?
A genetic counselor can help you understand your risk of having a child with a particular condition. Genetic counselors are qualified to discuss the benefits and drawbacks of screening, testing, or prevention options for you or your family members. This service is called clinical genetics. A genetic counselor may also provide psychological support during this important time in your life.
Here are some reasons why seeing a genetic counselor is important:
- Learn if you carry a genetic illness gene.
- Get guidance on treatment plans available
- Get tested yourself, your child, or an unborn baby.
- Knowing the likelihood of passing a genetic illness to your child.
What Happens During Genetic Counseling?
Your genetic counselor will ask you about your family’s medical history, including behaviors like diet or smoking that can affect your health. You’ll also be asked about the health of your immediate family members (for example, parents and siblings). Your genetic counselor will take this information into account when assessing your risk of having a child with certain conditions or diseases.
Genetic counselors can help you figure out if testing is right for you and, if so, which tests to ask your doctor about. Many people choose to have a combination of genetic tests, such as carrier screening and prenatal (fetal) diagnostic testing. Carrier screening is a type of genetic test that tells you if you’re at risk of passing a condition on to your children. With carrier screening, you’re tested for conditions that each parent is either at risk of carrying or has a chance of passing down to the child.
If you’re concerned about the potential for passing on a genetic mutation, meeting with a genetics professional can help you understand your options.
How to Know if Genetic Counseling is Important for you
You may want to have genetic counseling if you or someone in your family has, or is suspected of having, a birth defect, genetic disorder, or genetic syndrome. Your doctor may refer you to a genetic counselor for further testing and to discuss options.
If you’re considering starting a family, it’s important to understand how the health of previous family members can affect your own health and the future health of your children. Knowing if you’re at risk for certain inherited conditions can help you make informed decisions about how best to protect yourself, your relatives, and future family members.
Some diseases are caused by changes in specific genes, which means that multiple generations could be affected by a single genetic mutation. Some of these genetic conditions include:
- Down syndrome
- hemochromatosis
- neural tube defects
- cystic fibrosis
- Huntington’s disease
- Fragile X syndrome
- hemophilia
- muscular dystrophy
How to Handle Positive Test Results
If both parents carry the same gene change (mutation), there’s a 25% chance that their child will have the condition. If both parents are carriers, they can choose to undergo additional testing with their reproductive specialist to make an informed decision about having children.
If only one parent is known to be a carrier of a specific condition, there are different ways to manage the risk of having a child with that condition. Some people may choose prenatal screening or diagnostic testing in order to find out if a baby has the condition. If a prenatal test reveals an abnormality, couples can choose whether or not they’ll continue the pregnancy. This decision may be especially difficult when the diagnosis is severe and will require extensive medical care. In some cases, couples may decide that they’re comfortable with the risk of having a child affected by a certain condition.
If one parent carries a gene change that causes an autosomal recessive disorder, their partner will have a 25% chance of being a carrier for that same condition. Couples who are considering having children should seek genetic counseling so they can better understand their options and how this risk applies to them.
Couples with known gene changes for conditions such as cystic fibrosis or sickle cell disease may choose to have children through in vitro fertilization (IVF) with a preimplantation genetic diagnosis. With the pre-implantation genetic diagnosis, an IVF specialist biopsies a few cells from a developing embryo before it’s transferred to the uterus. The cells are tested for gene changes and embryos without any changes can be selected for implantation into the mother.
How Genetic Counseling can Help you Make Informed Decisions About Having Children
If you have a family history of certain conditions or diseases, your doctor may recommend that you have genetic testing. Genetic counseling can help you understand what the results of these tests mean for your current and future children. You may also want to meet with a genetic counselor if you’re at risk for passing on specific gene changes to your children.
The results of your testing can show if you or one of your parents carries an autosomal recessive condition, which means that the person only has the disease in each cell when they carry two copies (one from each parent) of these mutations. People with an autosomal recessive disorder will not be affected by carrying just one copy of the mutation in their cells.
Bottom Line
If you’re considering starting a family, it’s important to understand how the health of previous family members can affect your own health and the future health of your children. Knowing if you’re at risk for certain inherited conditions can help you make informed decisions about having children and provide valuable information to your doctor.
Resources
https://www.cdc.gov/genomics/gtesting/genetic_counseling.htm
https://www.ncbi.nlm.nih.gov/books/NBK115552/
https://onlinelibrary.wiley.com/journal/15733599
https://www.britannica.com/science/genetic-counseling
