Rachel Keppers, M.S., CGC
Genetics (Inherited Diseases)
Making the decision to add a branch to your family tree is an important one. It may be a time for reflection when you think of parents, grandparents, aunts, uncles and other family members. But have you considered how the health history of you and your partner's families may affect future generations?
While most babies will be born healthy, it's important to understand options for learning details about your baby's health.
A genetic counselor helps you understand complex genetic information and options available if genetic testing is performed. Genetic testing is part of the genetic counseling process, but it is not required to undergo genetic counseling.
You can meet with a genetic counselor virtually using telehealth technology from the comfort of your home. This eliminates needing to travel to a hospital or clinic location, especially if you have other children at home.
Your OB-GYN can refer you for genetic counseling if you are interested in learning about your and your partner's genes. You also may be referred if you have certain risk factors.
Risk factors include:
- Being 35 or older
- Having a family history of genetic conditions
- Having a child affected by a genetic condition or birth defect
An appointment with a genetic counselor includes a review of personal medical history and family health history. A family tree, called a pedigree, is created to document your family history.
Gathering as much information as possible about your family's health history for you and your partner's maternal and paternal sides is helpful before meeting with the genetic counselor.
Relevant health history includes:
- Any major health issues and age of diagnosis
- Chronic conditions
- Conditions that require care of a specialist
- Conditions that require medication
- Conditions they were born with or developed unexpectedly at a young age
- Country of ancestry
Based on your family history, the genetic counselor will determine if testing is available and help you decide whether details gathered from testing would be beneficial to the pregnancy.
With guidance from the counselor, you may decide not to pursue genetic testing based on family history. If testing is not warranted based on family history, screening options are available for genetic conditions that occur randomly or can hide in families.
Genetic testing involves examining your DNA — the chemical database that carries instructions for your body's functions. Genetic testing can reveal genetic changes that can cause illness or disease.
A positive result in genetic testing does not always mean the condition or disease will develop. And in some situations, a negative result doesn't guarantee the condition or disease is not present. A genetic counselor is a trusted partner each step of the way, helping interpret and navigate genetic test results.
Genetic testing is available for women who are pregnant or planning a pregnancy. A genetic counselor can assist with information on how to gather cost estimates for laboratory testing regardless of whether insurance coverage is available.
It's recommended to see a genetic counselor prior to pregnancy for testing to help with conception planning. During preconception counseling, carrier screening can be performed for over 200 inherited conditions that can hide in families. Genetic testing for you and your partner prior to pregnancy will show if inherited conditions are present in genes that could be passed on to your children.
- Cystic fibrosis
- Spinal muscular atrophy
- Sickle cell disease
- Tay-Sachs disease
- Fragile X syndrome
- Hemoglobin disorders
Knowing your genetic risk can help determine risk for children to have the same condition. If you and your partner are unaffected carriers of a condition, the child has a 25% chance of having the same condition. When the potential for inherited conditions is determined before conception, there are ways to avoid passing on the affected genes. With natural conception, a genetic counselor can coordinate testing early in pregnancy or shortly after birth to gather this information. Being able to start treatment as early as possible is important with some of these conditions.
Prenatal or pregnancy
Genetic testing can be performed during pregnancy to screen for common conditions that occur randomly and are not passed on in families.
Conditions screened for in pregnancy include:
- Down syndrome
- Trisomy 13 and 18
- Klinefelter syndrome
- Turner syndrome
- Neural tube defects, such as spina bifida or anencephaly
Determining the risk can help you and your partner medically and emotionally prepare to have a child with a genetic condition. Testing includes an anatomic ultrasound or a blood test for you, which may include cell-free DNA screening. Prenatal screening tests usually are performed during the first or second trimester.
Each step of the consultation, screening and testing process is done through collaboration and conversation between you and the genetic counselor. Your OB-GYN and other care team members are included so pertinent information is shared with those involved in your care and that of your baby during the pregnancy.
The primary goal of genetic counseling is to provide information and support as you make informed decisions about your health and the health of your family.