Clinicians believe that a better understanding of why and how genetic mutations cause certain diseases and conditions is crucial for the improvement of genetic testing and greater accuracy in early clinical diagnosis of various medical diseases and disorders.
Genetic testing is carried out for a number of reasons and at various stages of life.
Perinatal genetic testing allows adults, parents-to-be, and parents of newborns to check for genetic abnormalities i.e. to see whether their baby is likely to be born with a genetic condition, the pre-disposition for a disease or, in the case of newborn screening, has been born with a genetic mutation.
Types of perinatal genetic testing include:
Prenatal genetic testing (testing which takes place during the pregnancy) can be carried out in a number of ways. Research into prenatal genetic testing is ongoing and the types of test available to you will depend on a number of factors including whether you are able to afford private healthcare screening.
Types of genetic screening during pregnancy include:
If a whole gene needs to be tested for abnormalities, gene sequencing may be required. This is a delicate, precise process that takes longer than many other hospital laboratory tests. When a specific mutation is being looked for, it can take weeks or even months before conclusive results are available.
What’s more, genetic testing does not always provide definitive answers; the presence of a certain mutation may not mean there is 100% probability that a disease or disorder will occur. Sometimes further testing is required and sometimes only time will provide the answer.
Prenatal screening can lead to difficult decisions, such as whether to undergo amniocentesis. Depending on the results of genetic testing, there may be further decisions to be made about continuing or ending the pregnancy.
Genetic testing can be used at any stage of life, the various testing scenarios include:
As new technologies are developed and the cost of gene sequencing comes down, genetic testing may become more affordable and be available for more and more patients and healthy people alike.
Next-generation sequencing (NGS) technologies are being developed to help laboratories produce large amounts of sequencing data from multiple samples. Previous methods were only able to sequence a single DNA fragment at a time, while NGS is able to sequence millions of fragments per run.