Genetic Counselling – A Quick Guide For Parents To Be

GENETIC COUNSELLING

If you are first time parents, then you may have to undergo a few tests to ensure that your baby is born healthy and has no medical complications. Genetic counselling may be advised to you, which may include tests that will help you in assessing your health and your partner’s health. Genetic counselling is done to ascertain any risks that may affect your baby after birth.

What Is Genetic Counselling?

In simple words, the genetic counselling definition indicates that it involves meeting medical experts who may carry out various genetic tests and also study in detail your family’s health records and medical history. The purpose of the counselling is to find out if you or your spouse’s genes contain any disorder that may get transferred to your baby. Therefore, the importance of genetic counselling cannot be undermined because it is a beneficial tool in establishing any complication that may arise in your baby because of the faulty genes.

Reasons To Perform Genetic Counselling

The genes in our body contain information about how our body should grow and function. Sometimes these genes get faulty and are transferred from the parents to their children, causing congenital disorders and developmental issues. Genetic Counselling can identify the possibility of any such defects even before conception. There are a number of reasons to perform genetic counselling, here are some of them:

  • If you are an older mother: Women who become pregnant at 35 years or later, are more likely to give birth to babies with congenital disorders than their younger counterparts.
  • If you have a genetic disorder or you have a child with the genetic disorder: Some genetic conditions or disorders run in families. Therefore, if there is some genetic disorder already present in the family, such as cystic fibrosis, Clift palate or lip, sickle cell diseases etc., you should get genetic counselling done.
  • If your partner is your first cousin or blood relative: Blood relatives are those related by birth and not by marriage, and if you and your partner are blood relatives, you need genetic counselling.
  • If you have had miscarriages: You may have to undergo a genetic counselling session if you have had miscarriages or your baby died after birth.
  • If your newborn baby’s screening shows any signs of genetic disorder: Babies are screened before leaving the hospital after birth. If your baby’s screening show signs of any genetic or rare condition, you may be advised for genetic counselling.
  • If your prenatal tests or ultrasound scan show any sign of genetic malfunctioning: You may be advised by your doctor to opt for genetic counselling session if there any observations (genetic malfunctioning) are made in your prenatal visits or ultrasound scans.

Your lifestyle, work or medical history may also put your unborn baby at risk of getting genetic disorders. Working around harmful chemicals, addiction to drugs or being on some prescribed medicines for long, etc., may lead to genetic problems in your baby.

About Genetic Professionals

Genetic professionals comprise of clinical geneticists and genetic counsellors. These professionals work together as a team. They help diagnose the problems and offer various solutions to deal with the situation.

  1. Clinical Geneticists

Clinical geneticists are the genetics professionals with a medical degree and specialised training in genetics. They are medical doctors who help the couples know about their genetic conditions and conduct various lab tests to understand the cause of their genetic disorder. They also educate the couple on how a particular genetic condition or disorder may affect their unborn child and suggest various treatment options for the same.

  1. Genetic Counsellors

Genetic counsellors are the genetic professionals who have the specialised training to help people cope up and understand their genetic conditions. These professionals provide support and counselling to the people with genetic disorders.

What Happens During The Counselling Session?

During the counselling session, the genetic counsellor will discuss with you and your partner about your condition. You may be told about the probable genetic disorders or defects that your baby may be born with. You may also have to discuss in detail about your medical and family history with the counsellor. Here’s what you may expect from a counselling session with your genetic counsellor:

YOU MAY BE ADVISED ABOUT VARIOUS TESTS

– You may be advised about various tests and treatment options as per your genetic complications. You may also be told about various options available to you.

– Your genetic complication may be explained in detail and in a simplified language, by your counsellor.

– You may make an informed decision regarding the various treatment options available to you.

– In addition to your medical and family history, you may be inquired about any exposure to toxic substances that you may have faced.

– You may be asked by your counsellor about any prescribed medication that you may be taking or have taken. It is recommended to carry the prescription with you for the counselling session if any.

The counsellor will assimilate all the information provided by you and give you your options. The counselling session may last up to 20 minutes to an hour, or longer in some cases.

What Happens After The Session?

After your session with the genetic counsellor, you may be handed over a summarised letter or report of the session. The letter may also be mailed to your physician. You may be referred to the community resources if your counsellor feels that you require it. In case the need arises, or your counsellor feels that would need it, you may be referred for more prenatal screening tests.

Test Results

Your genetic test results may be negative, positive or inconclusive. The time taken for test results may vary as per the type of test and your healthcare facility. You may discuss with your genetic counsellor, physician or medical geneticist about when to expect your test results.

Positive tests results: Would-be parents would naturally feel worried if the tests are positive as it is indicative of a genetic disorder or defect that your baby may be born with.  However, the positive test will also help you determine the right course of treatment and a management plan. Your medical geneticist will help you assess the probability of the risk of genetic defect or disorder in your baby after birth. Your doctor may guide you in case any foetal surgery that may be required, to correct some birth defects. In severe cases, you may be told to terminate the pregnancy.

Negative test results: Sometimes the mutated gene remains undetected during genetic testing. Though you may feel relieved, and it is certainly reassuring that you may not be passing any genetic defect to your baby, it is not 100 percent sure that you or your baby will not have a genetic disorder. The authenticity of the test also depends on the condition that is tested and whether gene mutation was present in any of the family members.

Inconclusive test results: Sometimes the genetic test results may be inconclusive because the tests fail to provide the required information. It may become difficult for the medical geneticist to distinguish between a harmless gene and a disease-causing gene. In such situations or conditions, re-testing or follow-up testing may be required.

How To Find A Genetic Counsellor?

If you and your partner come to know about the genetic defects, it may be reassuring to get in touch with a genetic counsellor. You may consult or talk to your physician if you feel that an informative session may be helpful for you. Generally your doctor may guide you to a genetic counsellor that your doctor may know or is working with. You may also visit the medical university or a medical college in your locality, to give you information about the available professionals in your vicinity. You may also log on to any online medical website that may guide about an advisor in your locality. The benefits of genetic counselling extend beyond understanding the condition; it can also help you accept it and plan for the future.

It is best to get genetic counselling done before you plan to get pregnant. If your test results show any genetic defect or disorder then you may adopt various other ways, such as:

  • Using donor eggs or donor sperms for pregnancy
  • Opting for pre-implantation diagnosis
  • Opting for adoption
  • Opting for the risk to give birth to your baby

But in case you establish faulty genes after getting pregnant then genetic counselling is very effective in preparing you for the challenges that may arise because of the situation. It provides you and your family the support you need to cope with the situation.

Also read: Common Trimester Wise Tests During PregnancyTriple Marker Test During Pregnancy