Sometimes, traditional clinical investigations like physical examinations, blood tests or imaging are not enough to explain a person’s symptoms. When this happens, genetic or genomic testing can provide additional clues and may help end a long and difficult search for answers. Receiving a diagnosis can bring clarity and relief, and can be an important step towards appropriate treatment or support.
Genomic testing has been especially valuable in the field of rare diseases. Many rare conditions have a genetic origin, and newer testing techniques now make it possible to establish a diagnosis more quickly and accurately than in the past.
It is important to manage expectations. Genetic test results are not always straightforward. Sometimes a genetic variant is identified, but scientific knowledge about its meaning is limited, or its future impact is uncertain.
In other cases, a diagnosis may be difficult news, particularly when a condition is serious or has limited treatment options. For these reasons, genetic counselling is essential to help people understand results and consider next steps.
Genetic testing has evolved rapidly. Today, tests range from targeted analysis of a single gene to broader approaches that examine large parts of the genome, or even the entire genome. The choice of test depends on factors such as a person’s symptoms, medical history and the results of previous examinations or tests. More comprehensive testing can increase the chance of finding a diagnosis, but it also increases the possibility of unexpected findings unrelated to the original reason for testing.
Although the cost of genomic sequencing has decreased significantly, the actual cost of testing varies depending on the type of test and whether it is reimbursed. This affects how accessible testing is in practice.
The likelihood of reaching an accurate diagnosis can also vary between populations. Today’s genomic databases are still mainly based on people of European ancestry. As a result, individuals from underrepresented populations may face less accurate interpretation of results and lower diagnostic rates.
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