Who needs one, what they do, how to find one. Trying to conceive? Time to take a thorough look at your health.
Before you try to get pregnant, it’s a good idea to have a medical checkup to make sure you’re in the best possible health. For some people, it’s a good idea to have a genetic checkup as well, with a prenatal genetic counselor. But how do you know if you’re one of those people, and what steps should you take if you are? We asked Donna F. Wallerstein, a certified genetic counselor at the University of Medicine and Dentistry of New Jersey’s Center for Genomic Medicine in Newark, who has been involved in prenatal genetic counseling for 21 years.
Who Should See a Prenatal Genetic Counselor?
“Most people are referred to a prenatal genetic counselor by their obstetrician during a pregnancy or by their infertility specialist when they are having difficulty either maintaining a pregnancy or becoming pregnant,” says Wallerstein. “Rarely do people seek out a prenatal genetic counselor on their own.” She says a couple might be referred to a counselor for any of the following reasons:
- Advanced maternal age. Women over the age of 35 have a higher likelihood of having a child with a chromosome abnormality than younger women. “They are usually offered a variety of options for testing during a pregnancy, either to refine their individual risk or to make a definitive diagnosis in a fetus,” Wallerstein says.
- Abnormal results from standard prenatal laboratory tests. For example, women are often tested to see if they are carriers for cystic fibrosis. A woman who is found to be a carrier will usually be referred to a genetic counselor.
- Concerns about their family history. People who have a family member with some type of physical or mental handicap might consult with a counselor to learn whether there’s a risk that they might have a similarly affected child.
- Difficulty with pregnancy, such as repeated miscarriages. Both women and men who have primary or secondary infertility may be sent to a prenatal genetic counselor, especially if other infertility studies have not found a cause for the problem.
- Chronic health concerns, such as diabetes or epilepsy. Some of these conditions can increase the risk of birth defects, either because of the underlying condition itself or the medications needed to control the condition, Wallerstein says.
- Concerns about exposures to potentially harmful substances. A woman who took medication or was exposed to x-rays before she realized she was pregnant might want to check with a counselor. A few alcoholic drinks probably would have little effect, but excessive drinking well into the first trimester might be cause for concern.
A day in Wallerstein’s office reflects the many concerns that bring people in. “I saw five patients today,” Wallerstein says, and enumerates the varied but not uncommon reasons for their visits: “a family history of schizophrenia, amniocentesis that indicated Down syndrome, advanced maternal age, and multiple miscarriages.”
What Services Does a Counselor Provide?
“Genetic counseling is a lot of teaching,” says Wallerstein, who had found she loved teaching when she was a graduate student in molecular genetics. “Sometimes it’s one on one, or working with one family. Some people do group counseling, or group teaching, and some do large group teaching.” In general, a genetic counselor’s services break down in three parts. He or she:
- Analyzes the couple’s family history in detail.
- Researches the risks of exposure to medication or to teratogenic substances (those that might cause a defect if the woman were exposed to them during pregnancy).
- Offers clear, nonmedicalized information about the risks, benefits, and limitations of a variety of sophisticated testing options for numerous conditions. “Genetic counselors can both offer testing and provide interpretation of test results,” says Wallerstein. “Many prenatal genetic counselors also specialize in grief and bereavement counseling and can offer support and crisis counseling.”
What happens during an appointment with a counselor?
“A typical prenatal counseling session usually lasts about one hour and often begins with the counselor obtaining a detailed family history,” says Wallerstein. “The counselor may then review information already obtained from the patient’s physician, such as lab results or ultrasound reports. The counselor will review why the patient was referred and discuss available testing options. An experienced genetic counselor is usually able to make couples feel at ease quickly and will work with them through the session to determine which options, if any, are the best for them.”
How should couples prepare to meet with a counselor?
“Couples may want to come with a written list of questions or concerns and may want to talk to their parents or other relatives ahead of time so that they can give an accurate family history,” says Wallerstein. “If a woman regularly takes any medication or has taken anything during the pregnancy, it is helpful to let the counselor know the exact name of the medication, the dose and when it was taken and for how long. The counselor can then provide very specific information during the session.”
Will insurance cover the consultation?
Maybe. Wallerstein advises checking with your insurance company ahead of time to make sure that genetic counseling is covered and at what level. “Some couples are surprised that their insurance won’t pay for genetic counseling and are unprepared for the cost,” she says. “Also, couples should obtain any necessary referrals or authorizations in advance and should let the counselor know if their insurance only pays for testing done through a specific laboratory.”
Choosing a Genetic Counselor
How can couples find a prenatal genetic counselor?
Counselors take a qualifying exam offered by the American Board of Genetic Counseling, which certifies genetic counselors and accredits genetic counseling training programs for the United States and Canada. The National Society of Genetic Counseling is a professional organization whose website lists certified counselors, their areas of expertise, and their geographic region.
Are there other types of genetic specialists that couples considering conception should consult?
“Many genetic counselors provide counseling to a wide variety of patients, not just prenatal or preconception patients,” says Wallerstein. If a couple were concerned about a particular disease or type of hereditary condition, such as cancer or Huntington’s disease, then they might choose a genetic counselor who specialized in that disorder.
What’s the difference between a geneticist and a genetic counselor?
“A genetic counselor usually has a master’s degree in genetic counseling or may be a nurse/genetic counselor,” says Wallerstein. “Typically a geneticist is a physician trained in either pediatrics, obstetrics and gynecology, or internal medicine, who has also completed a fellowship (two to three years of additional training after residency) in genetics.” Only a physician can provide a diagnosis for a patient with a genetic disorder, such as a newborn baby with Down syndrome. The role of the genetic counselor is to provide information, interpretation, and ongoing support to the patient.
Most prenatal and preconception patients are seen by a genetic counselor and not by a medical geneticist. Genetic counselors usually work with or are supervised by a medical geneticist, who may review the counselor’s work or be available to answer questions or provide more information in complex situations, says Wallerstein. In pediatric settings, however, geneticists and genetic counselors usually work as a team with both seeing the same patients, either together or separately.