The Future of Genetic Analysis Tools

We explore the technologies driving new genetic analysis tools, and what they mean for rare disease patients.

Genetic analysis

What is genetic analysis?

Genetic analysis has traditionally been an invasive procedure, requiring in-person consultations, in order to sequence DNA, which can then be used to assess an individual’s risk for developing certain genetic syndromes. It is not something that has been directly available to rare disease patients and their families.

The main issues with existing genetic analysis tools

Genetic diagnosis for rare disease is a multi-step process, involving several genetic analysis methods that should include genetic counseling, genetic analysis and testing, and lastly a final diagnosis.

There are however a number of issues with the accuracy of genetic analysis – 

Inaccuracy: the accuracy of genetic analysis is crucial to ensuring a patient receives the right, targeted genetic testing for an accurate diagnosis.

Inaccessibility: in-person genetic analysis options make it difficult for patients who have to travel long distances to access it; or who have to wait a long time for an in-person appointment to become available. 

Cost: the cost of genetic analysis can be prohibitive for some patients.

Why is accurate genetic analysis so important?

Genetic analysis is the first step along the road to a confirmed diagnosis. The results from genetic analysis will determine the approach and testing a genetic counselor will recommend to a rare disease patient, in order to reach an accurate diagnosis. The more accurate the genetic analysis is, the more accurate the recommendations of the genetic counselor, and in turn the more accurate the final diagnosis (if there is one), is likely to be. 

This is especially important in the rare disease field for two main reasons:

Misdiagnosis is common when it comes to rare diseases (56% of Ehlers-Danlos patients, receive at least one misdiagnosis on their way to an actual diagnosis, with many being misdiagnosed up to four times), and it is a problem in that it delays support and treatment for affected individuals. An accurate genetic analysis from the start, should reduce the rates of misdiagnosis across the board. 

Diagnostic delay is also very common when talking about rare disease patients. The average waiting time for a confirmed diagnosis is 4 years. The longer it takes patients to receive a diagnosis, the longer it is before they can access the support, and treatments, necessary when living with a particular genetic syndrome.

What is the future of genetic analysis tools?

The future of genetic analysis tools rests on the development of AI technologies, including advanced facial screening analysis, that change how patients can access and initiate their own genetic analysis. 

An online solution

New genetic analysis platforms are non-invasive. Their facial screening technology scans an image of a patient, comparing its facial features to thousands of markers for rare diseases, and then analyzing a patient’s rare disease risk based on these. It is fast, accurate, and most importantly it is a solution that is virtual. All it requires is a simple photo upload, allowing patients to access the service from the comfort of their own homes. Anyone with a connected device, with a camera, can initiate their own online genetic analysis.      


A direct-to-patient solution

Online genetic analysis solutions allow rare disease patients to take greater control over their own diagnosis. It reduces waiting and journey times spent wasted on in-person appointments. It allows rare disease patients to initiate their own genetic analysis, rather than having to wait for a referral from a medical professional. This is important in terms of empowering patients, and reducing diagnostic wait times.

What are the benefits of these tools for rare disease patients?

Empowering rare disease patients

The entire world of rare diseases is a complicated one. Rare disease patients face years of misdiagnosis, delayed treatment and support, and a great deal of stress and frustration, on the road to a confirmed genetic diagnosis. The future of genetic analysis tools, which puts them online and directly accessible by patients, is to reduce much of this stress and delay. But first and foremost it is about putting rare disease patients back at the center of their diagnosis. 

Greater accuracy

Research shows that facial analysis screening tools are more accurate at identifying genetic syndromes from screen facial features, than clinicians are. Genetic analysis tools are able to access tens of thousands of features in seconds, and provide both an accurate, and a fast analysis.

It’s about more than just analysis

Improved, virtual genetic analysis is the future. But this analysis alone is not enough to improve the rates of diagnosis for rare disease patients. The future of genetic analysis tools means the development of platforms and solutions that are able to bring together all elements of the diagnostic journey- genetic analysis, genetic counseling, genetic diagnosis, in one view. This means a solution which can provide the initial genetic analysis report, and then connect patients to genetic counselors, and geneticists, also online, as and when they need them. 



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