The phrase “DNA testing” conjures images of test kits and cheek swabs arriving in the mail, but genetic testing may not be the best starting point for family planning. Family history, genetic counseling, and genetic testing are equally important for protecting your future family.
Genetic testing is an excellent tool. Genetic testing examines a person’s DNA through a sample of blood or saliva. DNA is like a blueprint for how a body grows, develops and functions. However, the DNA testing available today cannot tell you everything about a person’s genetic background. At this time, the science behind DNA is still developing. There isn’t one single genetic test that can give all the information about a future baby’s health.
For example, some direct-to-consumer testing sites offer DNA testing for a subset of inherited conditions. However, there are many inherited diseases not included in online testing, even some that are highly recommended by medical societies. Instead of jumping to online genetic testing, your family tree is a better place to start.
Family and health history
Collecting family history involves asking questions about a person’s health and their family. Most people have family members with different health issues, some of which can be inherited. Most of these conditions would not be detected by standard DNA testing done by obstetric or fertility clinics. For example, if parents-to-be have a family member with a childhood condition, such as a birth defect or severe learning problem, they could have a higher chance of passing something similar to a child. Collecting detailed family history can better inform couples regarding the chances for an inherited condition in the child. Unfortunately, over 10% of women or couples have a genetic risk that is not identified by routine prenatal care.1 You can get help with understanding your family tree through genetic counseling.
Genetic counseling is a conversation between two people. It is not genetic testing itself. The difference is the human element. A genetics expert, like a genetic counselor, will integrate the family and health information, genetic testing results, and equally important, the parents-to-be’s values and goals, into one complete picture. Genetic care for one couple will not be the same as it is for another couple. Also, about ⅓ of health concerns raised about pregnancy can be removed by a genetics expert’s review, providing much needed reassurance.1
Mainstream Genomics fills the gap for women and their partners who are pregnant or considering pregnancy. Our online Pregnancy Planning Family Screen asks simple questions about health and family to generate a Personalized Screening Plan. Licensed genetic counselors, who are experts in genetic risk and testing, will review your family tree to decide whether any genetic testing or prenatal screening is right for you. They will share a Personalized Screening Plan with you, and you can make an appointment to discuss the results with them and ask questions. Combining your family tree, genetic testing and genetic counseling is a great start to protecting the health of your future family.
Elizabeth Kearney, MS, CGC
Licensed Genetic Counselor
You can find more information about our services at
- Meschede, SD and Horst, J. The practical importance of pedigree analysis in women considering invasive prenatal diagnosis for advanced maternal age or serum screening. Prenatal Diagnosis 2000.