Genetic Diagnosis for Rare Disease: An overview

Genetic diagnosis for rare disease can be a complicated process. We explore why that is, and how to improve the process for rare disease patients.

Genetic diagnosis for rare disease

Genetic diagnosis for rare disease is a process, sometimes also referred to as a diagnostic journey. The aim of the process is to find answers for patients, either about their genetic health, their risk for developing a rare disease, and which specific rare disease they might be at risk for, or have. 

Genetic diagnosis for rare disease: the process

Genetic diagnosis for rare disease is a multi-step process that should include genetic counseling, genetic analysis and testing, and finally a diagnosis.

genetic diagnosis for rare disease

Genetic counseling & genetic diagnosis for rare disease

This is the initial stage of the genetic diagnosis for rare disease process. But more than that, it should also accompany a rare disease patient throughout the entire diagnosis process. 

Genetic counseling is an invaluable support service, led by professional genetic counselors, that provides important information and knowledge, as well as recommendations and support, to rare disease patients and their families. 

The aim of genetic counseling is to improve the accuracy of the diagnosis process, while supporting patients emotionally along the way. It is led by professional genetic counselors who are able to act as a bridge between genetic experts and patients, translating medical and genetic information in a way that patients can understand. 

Genetic counseling aims to empower patients when it comes to their genetic diagnosis. With information about the causes and symptoms of genetic syndromes, but also with comprehensive information about the types of genetic testing available, what they involved, and what they might be able to tell a patient about their individual genetic health. 

Genetic counseling has traditionally been a service that takes place in-person. But advancements in technology and a drive to make it more accessible to more people, is increasingly pushing genetic counseling online. 

Genetic analysis and testing

Genetic analysis and testing is an important part of the genetic diagnosis for rare disease process. It involves understanding more about an individual’s genetic health, either through invasive or non-invasive screening methods, in order to understand if they are either a carrier of a genetic mutation, or a rare disease patient themselves. 

There are different types of genetic analysis and testing. Some are not invasive, and might involve facial screening to identify markets of rare symptoms, for example. Other forms of genetic testing might involve taking blood samples to sequence and understand a person’s DNA. 

Genetic testing takes many forms. Carrier screening involves testing an individual’s DNA, to understand if they are carriers of genetic mutations, which might have implications for the health of their future children, or themselves, depending on how each mutation is inherited and causes a rare disease. 

Genetic testing conducted during pregnancy can identify if a developing fetus is at risk of developing specific genetic syndromes. Some types of testing during pregnancy can accurately confirm a rare disease in an infant. In the US all newborns undergo genetic screening at birth, to check for Phenylketonuria (PKU) amongst other possible syndromes. Genetic testing is increasingly a part of standardized pregnancy care in many countries. 

Genetic testing is more accurate when combined with genetic counseling. The more that is understood about a patient’s medical history and health, the more targeted genetic testing can be, and the more accurate the eventual diagnosis. 

Improving genetic diagnosis for rare disease

Genetic diagnosis is a complicated process. Genetic testing is more available than ever before, and online genetic counseling is doing its part to make this crucial service accessible to more people. 

These are important steps forward in the drive to improve accuracy within genetic diagnosis and analysis. Misdiagnosis is still too common for many rare disease patients, and many also face delayed diagnostic journey’s that are delaying their access to important support and care. 

The focus on improving genetic diagnosis moving forward should be on improving accessibility to genetic counseling, genetic analysis and testing. It should also focus on ease of use, and putting the patient in control of their own genetic health and diagnosis. Empowering patients, with information and knowledge, is very important. The more we all understand about rare disease, their causes and symptoms, the better equipped we are to help those with a diagnosis manage their condition long term.

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