Genetic Testing for Rare Disease

We explore the crucial role of genetics testing methods and processes in the diagnosis of rare diseases.

Understanding genetic testing

Genetic testing for rare diseases is a significant step in the process of securing a confirmed diagnosis. The type of genetic testing recommended by a genetic counselor to a particular individual or rare disease patient is crucially important in reaching an accurate diagnosis. While all genetic testing is essentially about testing the genetic makeup of an individual to understand better the genetic cause (if any) of their particular symptoms, there are different types of tests depending on the rare disease being investigated.

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Genetic testing types

These genetic testing types include prenatal genetic tests, preimplantation testing during IVF treatments, and paternity testing. These genetic tests aim to understand the genetic makeup of a fetus or individual but for different purposes. Genetic testing grants patients and their families insight into the causes of a rare disease and allows families to prepare for future pregnancies when there is a history of an inherited condition.

To help a patient select the right genetic testing types, genetic experts (including genetic counselors and geneticists) have relied on a process that begins with some form of genetic analysis. Traditionally, this has taken the form of invasive testing to isolate potential rare diseases responsible for an individual's unique symptoms and features. This is then usually followed by genetic counseling, and then finally genetic testing. This process represents the stages of a rare disease diagnostic journey.

Accessing genetic testing

To choose the best options for genetic testing, genetic experts rely on various sources of information. The patient's family medical history is collected, their symptoms are documented and compared to those common with specific rare diseases, and reference is made to genetic analysis reports. As the first step in this process, the accuracy of the initial genetic analysis is essential to ensure greater accuracy in selecting the right genetic tests to proceed with. The more accurate this is, the less the chance of a misdiagnosis at the end of the process.

Genetic testing must be highly targeted, accurate, and accessible if it provides rare disease patients with the diagnosis they need to manage their condition and care needs better.

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