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Genetic Counseling

In a pamphlet published by the Queensland Government for Queensland Clinical Genetic Service they proposed that

"Genetic counselling is a health discipline that offers individuals or their families accurate information about genetic risks. Every couple faces some risk of having a child with a birth defect. For some couples the risk may be greater because of their age, their genes, family history or certain other factors. The main purposes of counselling are to help these individuals (or families) to understand

  • The disorder in the family, how it is diagnosed, what the future holds and how to manage and/or treat it.
  • The risk of recurrence or how likely the disorder is to happen again.
  • The alternatives available to cope with the risks and/or the disorder.
  • How to adjust to the disorder in the best possible way.

Counsellors can never guarantee the birth of a normal child, they can only provide an estimate of the risks and determine how tests might help. Decisions regarding family planning are always left to the parents and therefore both parents should be present for counselling, whenever possible."

Who can benefit from genetic counselling?

Many families, couples and individuals who seek counselling already have a child or relative with an identified genetic disorder. Others are at risk because of their age, or the population group to which they belong, or because they have married a relative. People who benefit from counselling include those who have:

  • A history of known genetic disorders such as muscular dystrophy, Down syndrome, haemophilia, cystic fibrosis, albinism, growth disorders, fragile X syndrome, metabolic disorders.
  • A history of birth defects such a cleft lip and palate, club foot, congenital heart disease and spina bifida.
  • An increased risk for disorders because of
    • their ethnic background (eg South East Asian people have an increased risk for thalassaemia, Jewish people for Tay Sachs disease, and Europeans for cystic fibrosis)
    • consanguinity (husband and wife or partners are related eg first cousins)
    • exposure to drugs, alcohol, chemicals, infection or radiation during pregnancy
    • the age of the woman (35 years and over)
    • an abnormal result on a maternal serum screening test in a pregnant woman
    • a history of infertility, multiple miscarriages, still births or early infant deaths.
    • a history of intellectual disability, slow development and/or seizures.
    • a history of hearing or visual impairment.
    • a strong family history of cancer.

What does the Genetic Counselling Service provide?

The genetic counselling sessions begin with a thorough investigation of the family history and construction of a pedigree or family tree. The medical details of the affected member(s) of the family are then reviewed and the disorder is traced through the family. If medical tests are recommended the counsellor will explain the benefits and limitations.

Once the diagnosis is confirmed and the problem identified, the genetic counsellor can estimate the risk involved, discuss the health and genetic aspects of the condition, inform the family of their options for the future (including possible diagnosis during pregnancy and/or treatment after birth) and provide supportive counselling. The counsellor may also refer them to medical specialists, other health professionals or community support groups, where necessary.

The family or individual can question the counsellor and then, being fully informed, plan their future without taking unnecessary risks. If couples decide to proceed with a pregnancy they may request prenatal diagnosis, which can be done for some genetic conditions. Individuals may plan how they will cope with their risks and may decide whether or not they wish to have genetic testing, if it is available for their disorder.

Follow-up may be made by telephone and/or letter and further appointments can be made where necessary.”(Queensland Health –Queensland Government)


The Genomics Research Centre offers the services of a Clinical Geneticist and a Genetic Counsellor by private appointment only. Patients should send an appropriate referral letter and/or report from their general medical practitioner and/or medical specialist, an appointment will then be made with the clinical geneticist and/or the genetic counsellor.

Please call +61 7 5552 9201 or Email: grcclinic@griffith.edu.au for any enquiries

Reference: Pamphlet, Genetic Counselling, Queensland Government-Queensland Health

 
 
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