About 80% of rare diseases are genetic (source: Department of Health and Aged Care). In addition, genetic conditions affect a significant number of children and families, with approximately 1 in 20 children born with a genetic condition or birth defect. These conditions can range from relatively common disorders such as Down syndrome to rare genetic diseases that may have profound implications for a child’s health and development.

Growing awareness about genetic conditions

As a result, genetic testing in children has become a topic of growing importance, as advances in medical technology have made it increasingly accessible and informative. Advances in genetic testing have enabled diagnoses in children who may not otherwise have been able to find one, and has shortened the diagnostic odyssey for many families. For parents considering genetic testing in their children, it is essential to understand both the benefits and considerations involved. 

Genetic testing can provide valuable insights into a child’s health and help identify underlying genetic causes of medical conditions, developmental delay, or intellectual disability. By identifying these genetic factors early on, parents and healthcare providers can better tailor treatment plans, interventions and support services to meet the child’s unique needs.

Knowing the risks early on

In addition, genetic testing can offer parents valuable information about their child’s risk of developing certain genetic conditions. . Armed with this knowledge, parents can make informed decisions about family planning, reproductive options and proactive healthcare management strategies for their child’s future. Testing for adult-onset  predisposition to diseases is not usually offered in childhood in order to preserve the child’s right to choose NOT to be tested.

Being prepared for the test results

However, it’s important for parents to approach genetic testing with careful consideration and awareness of potential implications. Genetic testing may uncover unexpected or difficult-to-process information about a child’s health or genetic makeup, leading to feelings of uncertainty, anxiety or grief. Parents should be prepared for the possibility of receiving results that may require further medical evaluation, intervention or ongoing support.

Furthermore, genetic testing may raise ethical, cultural and psychosocial considerations that vary from family to family. Parents should take the time to discuss their values, beliefs and concerns with their clinical geneticist, genetic counsellor, and other trusted sources to ensure that they are making informed decisions that align with their family’s values and goals.

Understanding the limitations

When considering genetic testing for their children, parents should also be aware of the potential limitations and uncertainties associated with testing. While genetic testing can provide valuable information, it may not always yield clear-cut answers or definitive diagnoses. In some cases, genetic testing may produce inconclusive results or identify variants of uncertain significance, requiring further evaluation and follow-up testing.

It’s still all about the child’s health and future

Genetic testing in children can be a valuable tool for understanding and managing a child’s health and well-being. By weighing the potential benefits and considerations of genetic testing and seeking guidance from clinical geneticists and genetic counsellors, parents can make informed decisions that support their child’s health, development and future.


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