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7 reasons why your doctor may recommend genetic counselling


If you’ve been through screening for genetic carrier status or genetic testing during pregnancy, you’ll know what a mindf*ck the whole thing can be. The relationship between genetics and pregnancy outcomes involves a whole bunch of ‘ifs’ and ‘buts’ that may just throw you into an existential crisis. Thankfully, your friendly local genetic counsellor can help you work through this.

Your doctor might refer you to see a genetic counsellor for a range of reasons. Most commonly, they’ll help you understand and process your genetic pregnancy testing results. 

So what does genetic counselling involve, and how can it help you plan for pregnancy, birth, and beyond? (Sans existential crisis, preferably.)

First off – What is genetic counselling?

A genetic counsellor is a health professional with specialist training in both genetics and (surprise, surprise) counselling. They usually come from a background in nursing, social work, science or education.

Their job involves:

  • Working closely with clinical geneticists (medical doctors who diagnose and help treat genetic conditions).

  • Helping families wrap their heads around genetic test results.

  • Supporting families after a genetic condition is diagnosed.

  • Helping hysterical parents calm down (we presume).

As you’ve probably gathered they’re like a therapist, but they specialise in talking about genetic disorders. Tough ground to cover. But there’s a good reason why genetic testing before pregnancy (and during) pairs well with chatting to a genetic counsellor.

Navigating the twists and turns of genetic testing in pregnancy

Do you HAVE to get genetic testing during pregnancy?

HELL to the NO. If it’s not for you, it’s not for you. But some people prefer to know in advance what they’re dealing with. Genetic testing in pregnancy is about helping you make informed decisions about your pregnancy, birth, and post-birth family life. (Same goes for genetic carrier screening, which may inform your reproductive choices.)

Not to alarm you or anything, but there are hundreds of rare genetic diseases that any baby could have. While most babies are born without them, according to The Raising Children Network, about 1 in 25 pregnancies carry a baby with a chromosomal anomaly that will lead to a disability. (Some more life-altering than others.)

So, what genetic testing is done during pregnancy? Tests like NIPT, combined first trimester screening, second trimester serum screening, amniocentesis and CVS provide information about whether your baby has, or might have, a genetic condition. 

(Psst! Read more about pregnancy checkups, screenings and scans here.)

If some conditions are detected early, doctors may be able to offer treatment. Others can’t be treated, but knowing about them in advance can help you prepare for life with a child that needs extra support. Or in some cases, a child with a low chance of survival after birth. 

Yes! I know! There’s so much to process here! Genetic counselling exists to help families with it.

“I have never heard of genetic counselling in my life” (– You, maybe)

That’d be because it’s still pretty new. (The first genetic counsellor was certified in Australia in only 1991!) But the field is growing. The Australian Government and The Human Genetic Society of Australasia (HGSA) has identified a need for more genetic counsellors as genetic testing in pregnancy becomes more widely accessible and used in pregnancies.

But it’s not only people with abnormal pregnancy screening results that are referred to genetic counselling services. 

Reasons your doctor might recommend genetic counselling

1. You or a relative have an inherited disease

If some of your family members have a genetic condition, there will probably be a genetic mutation in your family tree which puts your children at risk of having it too. This can be hard to process, particularly if you’ve watched other family members manage a difficult disease and treatment. 

A genetic counsellor can help you (and your partner) discuss things like:

  • How likely it is your children will get a condition (based on genetic pregnancy testing results).
  • How it can be managed.
  • How it could progress.
  • What support services your family might need.

2. You’re over 35 and want to get pregnant

Age affects fertility. We know this.

Genetic counselling can help you understand risk factors and weigh up whether to conceive naturally (i.e. by having sex), via IVF, or by using donor eggs or sperm.

3. You’ve had a child with a genetic disorder

If you’ve had one child with a genetic disorder, you’ll probably wonder whether any future kids will have it too. Enter genetic testing: Pregnancy Number Two (or Three, or Four). Your genetic counsellor is the perfect person to throw your questions at as you approach the process.

By the way—they’ll also be your BFF after your first child’s diagnosis. They can help you plan how to raise a child with a health issue, including where to get support and how to stay happy and healthy yourself. (Because mum burnout can be times a billion when your kid needs special care).

4. You’ve had abnormal prenatal test results

If your pregnancy screening turned up something abnormal, a genetic counsellor can help you decide whether or not to do (more invasive and risky) genetic testing in pregnancy for definite results. 

Note: I did not say, “They will make the decision FOR you”. They’ll just ensure you are fully informed and empowered to choose for yourself, based on what’s best for your family.

With conclusive results from diagnostic genetic pregnancy testing, you can discuss the details of a confirmed genetic disorder. For example:

  • Whether your baby is likely to survive pregnancy.
  • Whether your newborn will need treatment, or if you can take them home from the hospital straight away.
  • What physical or intellectual difficulties your child might experience.
  • Whether they’ll be able to walk and talk.
  • The range of health problems they may experience in their life.
  • Whether your child will be able to go to school.
  • Whether they’ll be able to live independently one day.
  • What support services you might need.

You CANNOT ask too many questions. Go for it.

5. You’ve had a miscarriage or lost a child

Miscarriage, stillbirth, or infant death is unimaginable. Learning that it’s a result of a genetic condition completely out of your control might help you come to terms with it, grieve your loss, and feel more confident trying again if you want to.

6. You come from a particular ethnic group

A lot of medical conditions don’t discriminate – but genetic diseases sometimes do.

Some genetic disorders are more common in people who trace their ancestry back to a particular geographic area. For example:

  • Sickle cell disease is more common in people of African, African American, or Mediterranean heritage.

  • Tay-Sachs disease is more common in people of Ashkenazi (eastern and central European) Jewish or French Canadian ancestry.

For this reason, your genetic pregnancy testing might involve (seemingly OTT) questions about your family history, and certain people may be referred to genetic counselling.

7. You and your partner are related by blood

It may sound wild, but in many cultures it’s normal for blood-related relatives to marry or have children together. This can increase the risk of transferring genetic disorders to children because parents will share more of the same genetic code (including the mutant stuff).

The more closely related you are, the higher the likelihood of your offspring having genetic mutations. Genetic counselling can help couples understand risks.

What to expect at a genetic counselling session

  • Questions – Your genetic counsellor may dig deep into your family history. But as you know, they’re not just super nosey – genetics and pregnancy outcomes can go hand-in-hand.

  • Diagnosis – During a genetic counselling appointment, your counsellor might make a diagnosis, or work out the chance of your children inheriting genetic disorders from you and your partner (through a series of complicated equations). If they don’t have enough information for a diagnosis, they might also refer you on for more testing.

  • Information – If a genetic condition is on the table for your child, your counsellor will give you information on how it might affect them and what your family can do to handle it.

  • Support – Expect ZERO judgement during genetic counselling, mama. Your counsellor has seen countless families in the same position as you. They know this can be emotional, and they’re here to help you deal with the info you receive. They can also refer you to support agencies and other medical professionals as needed.

Where to find a genetic counsellor

Hit your doc up for a referral, or you can find an accredited genetic counselling service in your state via the Human Genetics Society of Australasia website.

Now, take a deep breath.

All this talk of diseases and raising a child with disability is pretty f*cking overwhelming, huh? It’s not designed to scare you off, but to reassure you! Planning for pregnancy, being pregnant, and being a mum are all super tough. But there are people that exist to support you on this journey at all stages. 



Read next: Guide to blood tests during pregnancy

The Raising Children Network, Genetic counsellor

The Raising Children Network, Genetic counselling: A guide for parents

Human Genetics Society of Australasia, Genetic Counsellor Training Certification in Australia and New Zealand

Australian Government Law Reform Commission, Genetic counselling

The Royal Australian and New Zealand College of Obstetricians and Gynaecologists, Prenatal Screening for Chromosomal and Genetic Conditions

The Raising Children Network, When your unborn baby has chromosomal anomalies or disability

The Raising Children Network, Raising children with rare diseases and conditions

Geisinger Health, 5 reasons your doctor may recommend genetic counseling during pregnancy

MedlinePlus, Why might someone have a genetic consultation?

MedlinePlus, Why are some genetic conditions more common in particular ethnic groups?

NSW Government Centre for Genetics Education, When Parents Are Related – Consanguinity

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