There are many reasons to see a genetic counselor. Genetic testing is required for fertility treatments. It can identify hereditary conditions. It can aid in family planning. It can identify viruses that many have had and should be taken into consideration prior to, during or after birth, such as Cytomegalovirus (CMV). And, knowing about your genes is just plain interesting.
So, what is the process? In genetic counseling, your personal and family health history will be reviewed. This helps determine what genetic tests should be ordered and whether other family members would benefit from genetic testing as well.
The genetic tests themselves vary. A single gene, the entire protein-coding exome which makes up 1% of your genes, or your entire genome can be tested.
Genetic testing can be done before pregnancy, during pregnancy, or after childbirth. Prior to pregnancy both parents may undergo genetic testing to see if they share alleles for the same genetic anomaly. During pregnancy, a pregnant person may give blood to noninvasively screen for chromosomal conditions in the unborn child, like Down Syndrome. This can be helpful if one wants to avoid amniocentesis. But, if the noninvasive prenatal test comes back positive, an amniocentesis would be recommended for a sure diagnosis. Amniocentesis is done in the second trimester. It comes with a risk of miscarriage and is not necessary if parents intend to move forward with the pregnancy either way.
After baby is born, a “heel-stick” will be performed as part of the newborn screening. The heel-stick takes a small amount of blood from the baby’s heel for genetic testing. Newborn screening is done to catch and treat conditions early. The federal government recommends states test for 35 conditions. Families usually aren’t told of the results unless a test comes back positive for a condition.
Find a genetics clinic with the American College of Medical Genetics and Genome here: Find a Genetic Service – Find a Genetic Clinic (acmg.net)
Find a genetic counselor with the National Society of Genetic Counselors here: Home (nsgc.org)
References
- Genetic Counseling | CDC
- About Cytomegalovirus and Congenital CMV Infection | CDC
- What are whole exome sequencing and whole genome sequencing?: MedlinePlus Genetics
- What is noninvasive prenatal testing (NIPT) and what disorders can it screen for?: MedlinePlus Genetics
- Amniocentesis – Mayo Clinic
- What are the uses of genetic testing?: MedlinePlus Genetics
- Home | Newborn Screening (hrsa.gov)
- Newborn Screening Process | Newborn Screening (hrsa.gov)
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