Genetic counseling
Genetic counseling is a branch of medical genetics that focuses on assessing the risk of genetic disorders in individuals. Genetic counseling is a process of providing information related to genetics. In this article, we aim to explain everything about genetic counseling to our dear readers and answer all your questions.
What is Genetic Counseling?
According to the definition provided by the American Society of Human Genetics in 1975, genetic counseling is described as follows:
“Genetic counseling is a communication process that deals with the human problems associated with the occurrence, or risk of occurrence, of a genetic disorder in a family. This process involves an attempt by one or more trained persons to:
- Identify the genetic risks and options for the family
- Help the family understand the medical facts, including the diagnosis, prognosis, and management of the genetic disorder
- Help the family understand the options for dealing with the risk of recurrence
- Help the family choose the course of action that is right for them, in view of the risk, their family goals, and their values
- Help the family adapt to the disorder”
Anyone planning a consanguineous marriage, those with family members affected by hereditary diseases, individuals expecting a child, or those concerned about the recurrence of a hereditary condition in their family should consult a genetic counselor. Additionally, since genetic tests are often costly and medical staff may not have sufficient expertise in this field, it is advisable to visit specialized genetic counseling centers.
Different Stages of Genetic Counseling
Genetic counseling is available at various life stages as follows:
Pre-Marriage Genetic Counseling
This counseling, which is more common in Iran, is provided to individuals planning to marry who are also concerned about the possibility of genetic diseases affecting their future children. It is also recommended for individuals identified as carriers of thalassemia in pre-marital screenings or those who, for any reason, are deemed at risk by healthcare centers of passing on genetic conditions to the next generation.
Genetic Counseling Before Pregnancy
Genetic counseling is offered to families with a child affected by a genetic disorder, those concerned about passing a genetic condition to their child, or if one of the parents has a genetic or systemic disease. Couples who have experienced recurrent miscarriages or infertility are also advised to consult a genetic specialist before attempting another pregnancy.
When Is Genetic Counseling Necessary Before Pregnancy?
You may need genetic counseling if any of the following conditions apply, though you can consult your doctor to confirm if genetic counseling is advisable:
- If you are at least 35 years old at the time of delivery.
- If you have a child with a congenital defect.
- If you or your partner has a congenital disorder.
- If you or your partner has a family history of Down syndrome, intellectual disability, cystic fibrosis, spina bifida, Duchenne muscular dystrophy, bleeding disorders, bone problems, dwarfism, epilepsy, congenital heart defects, or blindness.
- If you or your partner has a family history of hereditary deafness (prenatal testing can help identify congenital deafness caused by the Connexin-26 gene, enabling immediate diagnosis by parents and medical staff).
- If you and your partner are blood relatives.
- If you have experienced recurrent miscarriages (three or more).
- If there is a family history of certain types of anemia, such as sickle cell anemia or thalassemia.
- If your partner is over 40 years old (medical data suggest that fathers aged 40 or older have an increased chance of having a child with a congenital disorder).
Should Every Couple Have Genetic Counseling Before Getting Pregnant?
Not necessarily. If you’re planning your first pregnancy, genetic counseling might not be on your mind. However, under certain circumstances, genetic counseling can help you and your partner make informed decisions about having children. There are more than 10,000 hereditary and genetic disorders. Certain ethnic groups are at higher risk for specific genetic disorders, and exposure to particular medications, chemicals, or pesticides can also increase risks for a couple.
If neither of you has a family history of specific diseases, genetic counseling may not be essential. Nevertheless, it’s wise to consult your doctor, who can provide initial guidance on whether genetic counseling is necessary. Unfortunately, many couples who would benefit from genetic counseling are unaware of this need until they have a child with a congenital disorder.
What Is Genetic Counseling and What Happens in a Counseling Session?
Genetic counseling is an information exchange session between you, your partner, and a genetic counselor or team of counselors. Any information you share or receive will remain confidential, and multiple sessions may be needed. Most universities and fertility centers offer genetic counseling services.
Through genetic counseling, you and your partner will learn about potential issues that could impact conception or your future child’s health. The information provided is not definitive; counselors may only discuss the likelihood or risk of a specific issue. Genetic counseling doesn’t make decisions for you; rather, it suggests tests based on your situation and provides explanations for the results and what they may indicate.
When talking with a genetic counselor, don’t hide any issues, even if they’re difficult or embarrassing to discuss. It’s important to be as honest as possible. Gathering some of the required information, such as your family’s medical history, may be challenging if you don’t know much about it. Knowing potential risks before pregnancy may spare you from making difficult decisions later in the pregnancy. The primary goal of genetic counseling, as with all prenatal care, is early detection and prevention of potential problems.
In cases of familial marriages, genetic counseling before pregnancy is generally recommended. During the counseling session, you and your partner will be asked about your family medical histories. If there’s suspicion of a specific disease in the family, tests related to that particular issue will be conducted. Some genetic diseases are more likely to manifest in cases of familial marriage, even if both partners appear healthy; they may still carry the gene and pass it to their child. Therefore, thorough counseling and assessing the potential for a genetic disorder are essential before conducting any tests. If no inheritable disease is identified and the woman is under 35, genetic testing is generally not required.
Can it be determined whether a physical abnormality in a child is hereditary?
It depends on the specific type of disorder. We need to distinguish between hereditary and acquired abnormalities. Acquired disabilities are not familial or hereditary. For example, a child might contract polio, but this condition will not be passed on to their own children, so it cannot be considered hereditary. Similarly, a child might lose hearing or develop an ear infection, but these cases are neither contagious nor transferable.
Some physical abnormalities are hereditary. Other conditions, such as recurrent bleeding or persistent eye infections that appear over multiple generations within a family, are considered hereditary abnormalities caused by defective genes. Even a general weakness or frailty can be passed down genetically, making a child more susceptible to various illnesses. Therefore, a predisposition or vulnerability to certain diseases can be inherited, though whether a child develops such conditions depends on environmental factors.
However, there is no way to reduce the risk of a fetus developing major thalassemia since the combination of parental chromosomes occurs randomly, and we currently have no method to identify or separate chromosomes carrying defective genes. However, testing the fetus and identifying serious illnesses early on may allow for the option of terminating the pregnancy. In genetic labs, after conception and pregnancy, a genetic test known as PGD can determine if the fetus has major thalassemia.
Can I use IVF to reduce the likelihood of hearing impairment due to a genetic disorder?
Genetic counseling likely informed you that genetic disorders (if identified through testing) do not always affect the child and can be calculated in terms of probabilities. There are also ways to assess the health of the fetus in the early stages of pregnancy if the risk of genetic issues is high. However, IVF would not be your solution since this method is generally used when couples are unable to conceive naturally. The fertilized embryo is placed inside the uterus. That said, if you intend to select a completely healthy embryo from the start, IVF could help with that. Ultimately, it is best to wait for your test results, and genetic counseling can provide guidance based on those findings.
If the parents are in perfect health with no diseases, could they still pass on certain family-related abnormalities to their child?
Unfortunately, it is possible. A person may be completely healthy yet carry an abnormal gene. In fact, the presence of defective genes in healthy individuals, along with the possibility of passing them on, is a fundamental topic in genetics. This is why genetic counseling before attempting pregnancy is so important. Even if you and your spouse are in perfect health, a genetic counselor can assess whether there is a risk of inheritable diseases from recessive genes and may recommend specific tests or offer guidance on early diagnosis of potential conditions in the fetus.
Is there a risk for pregnancy after the age of 35, and should I undergo genetic testing?
Pregnancy after age 35 is considered high-risk, meaning that the chances of certain issues for the mother (such as gestational diabetes, high blood pressure, etc.) are higher. However, with the rise in age among women choosing to become pregnant, many women over 35 have healthy pregnancies with careful monthly care and regular check-ups with a doctor or midwife. Some risks also exist for the fetus, including a higher likelihood of Down syndrome, which can be assessed through tests. Genetic testing (if you mean pre-pregnancy) is recommended after consulting a specialist and based on their judgment.
Is taking antibiotics while trying to conceive dangerous?
Many common antibiotics, such as penicillin and ampicillin, are safe to use during pregnancy. For almost any infectious disease, a suitable antibiotic can be found that is safe for pregnancy. Nevertheless, it’s best to inform your doctor about your attempts to conceive so they can prescribe medications that carry minimal risks during pregnancy.
Can I become pregnant while taking psychiatric medications, or should I wait?
It’s likely that your current mental health condition requires you to take these medications to achieve a balanced and positive state. Ideally, avoid pregnancy until your overall and mental health has improved, as pregnancy is a major mental stressor and could exacerbate your condition. Continuous and high usage of these medications could also impact the fetus.
Is it dangerous to take cold medications while trying to conceive?
Usually, no. Cold medications generally contain pain relievers, which are not contraindicated in pregnancy. However, it’s still best to inform your doctor about your intention to conceive so they can prescribe medications that have the least potential risks for pregnancy.