Genetic counselling

Recent advances in DNA technology and increased public awareness of the links between genetic make-up and many common diseases and disabilities mean more and more people are being referred for genetic counselling every year.

• What is genetic counselling?
• When to seek genetic counselling
• Preparing for genetic counselling
• What to expect at a genetic counselling session
• Following up after a counselling session
• Support
• Australian genetic testing and counselling services
• Genetic services in rural and regional Australia

What is genetic counselling?

Genetic counselling is a discussion with a medical professional qualified in genetics. Most people who seek genetic counselling want information, and counselling provides this at a number of stages, before or in conjuction with genetic testing. A counsellor’s first priority is helping you be better informed.

If you have a genetic disorder in your family, counselling can help you learn about how it might progress, what some of the consequences could be, the probability of the disability occurring in other family members, and the ways it might be prevented. Counselling sessions can give you information, and help you make decisions or adjustments.

Aims of genetic counselling
If you have a child with a genetic disability, genetic counselling can help you and your family understand the diagnosis and adjust to it. You may want genetic counselling so you can: 

• understand the medical facts related to your child’s disability – including the diagnosis, the likely cause of the disorder and how it can be managed
• understand how heredity might have contributed to the disorder
• learn more about what the risk is, and how to deal with it if you have more children
• plan realistically for the future
• adjust in the most positive ways to the disorder or to the risk of the disorder in another family member.

According to reports from genetic counsellors, some clients seek counselling to confirm what they’ve learned from the internet. Others want advice on decisions they need to make, or support for decisions they’ve already made.

Many people have found genetic counselling from an expert in the field to be very helpful and reassuring.

When to seek genetic counselling

Genetic counselling will help when: 

• a condition appears to run in the family and there’s concern that you or your children may develop it
• a child in the family has a serious problem that affects growth, development or health, possibly linked with a genetic cause
• a couple, thinking of having a child, is closely related
• foetal abnormalities have been detected
• there’s concern there’s been exposure to some chemical or environmental agent that may cause birth defects.

You might also be referred for genetic counselling as part of a medical genetics evaluation to diagnose or manage a genetic disorder.

Preparing for genetic counselling

Before attending a genetic counselling session it’s a good idea to find out as much as you can about your family’s medical history, because you’ll be asked to provide detailed information. This might include:

• your relation to each family member, including whether family members are adopted or half-relatives
• any major health conditions that affect each family member
• the age of onset of each condition
• the cause and age of death of family members (if relevant).

What to expect at a genetic counselling session

During a genetic counselling session, you’ll speak to a genetic counsellor. The counsellor might:

• get your family history
• make or confirm a diagnosis, or let you know there’s no genetic disorder present
• determine the risk of other family members inheriting the condition you’re concerned about
• discuss the impact and effect of the condition, and develop strategies to help you deal with what you’ve been told
• refer you to support agencies or other medical professionals
• give you verbal and written information about the condition.

Further testing may be organised if necessary.

After a counselling session, you should:

• know more
• feel emotionally supported because the counsellor has listened to you, validated your concerns, encouraged and understood you
• have new ways of communicating with your partner and family (sessions are designed to help the whole family)
• have information and support that will help you make an independent decision about genetically related disorders or treatments
• have long-term support through an ongoing relationship with the genetic counsellor
• have guidance that will help you make decisions and deal with possible events in the future, as well as the feelings that come with them.

Following up after a counselling session

Genetic counsellors don’t make decisions for you – their role is to give you options and provide support for you as you make a decision. After genetic counselling, you might have to make decisions about:

• whether or not to have genetic testing done
• who to tell about the results of the test
• whether you want medical treatment (if it’s available)
• how you’re going to live your life in response to the results of the testing
• how much support you’re going to need.

Support

The diagnosis of a genetic condition can place a lot of pressure on a family. Families and individuals affected by a genetic condition can find support through a network of contacts at the following organisation:

The Association of Genetic Support of Australasia (AGSA)  
66 Albion St, Surry Hills NSW 2010
Ph: (02) 9211 1462
Email:dianne@agsa-geneticsupport.org.au

AGSA can provide information on genetic support groups across Australasia and help you make contact with families with similar genetic conditions.

Australian genetic testing and counselling services

Genetic services in rural and regional Australia

The government has recognised the need for improved access to genetic services in rural, regional and remote areas of Australia, and is trying to make more genetic services available.

Check the Centre for Genetics Education for a comprehensive list of services in your area. Contact the genetic service in your capital city and ask about services available to you.

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