New Advancements in Genetic Analysis For Rare Disease Delivering Accuracy & Affordability

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New advancements in genetic analysis for rare disease are ensuring greater access to more accurate diagnostic tools. FDNA Telehealth is pioneering online genetic counseling to improve this process.

genetic analysis for rare disease

Improving Genetic Analysis For Rare Disease Diagnosis

Patients can initiate their genetic screening from the comfort of their own home while still receiving essential consultations with genetic experts who can help confirm a genetic diagnosis and recommend further necessary genetic screening options where necessary.

What is genetic analysis?

Genetic analysis is the process of screening a person for the possibility of a genetic syndrome or rare disease. It is usually the first and crucial step in the diagnostic process that will let an individual know if there is a need to proceed with more in-depth genetic counseling and testing.

What are some of the advancements made in genetic analysis in recent years?

In recent years there have been two main advancements that have improved the field of genetic analysis for patients who need it:

The application of AI technology, including facial screening to genetic analysis solutions, means the analysis is faster and more accurate than ever before.

The provision of access to advanced genetic analysis tools to patients directly, without the need for a medical referral. For example, from the FDNA Telehealth website, patients can book an online consultation, upload an image for genetic analysis, and receive a report all from their computer or phone. They can also connect with an extensive and global network of genetic experts if the analysis shows a need for further genetic testing.

What are the main benefits of this new approach to genetic analysis?

Peace of Mind

It ends concerns a patient or family member may have about specific symptoms or features you found in a child or a family member. Genetic analysis will identify any potential markers or features of a genetic syndrome that might require further investigation. It also identifies the risk of a rare disease developing in an individual. Telegenetics solutions do this much faster than traditional approaches to genetic analysis.

Accurate & Fast

As most genetic analysis can now be conducted online or through a telehealth solution, access to the analysis is fast. In some cases, this can be within 24 hours.

Advanced AI technology powering telegentics and genetic analysis screening tools makes the entire diagnostic process that much more accurate and subsequently reduces the possibility of a misdiagnosis.

FDNA Telehealth’s genetic analysis tool (with advanced facial screening capabilities), as one example, has already been proven to be more accurate in diagnosing potential rare diseases in an individual than clinicians analyzing a photo or individual in person.


Telegentics has put genetic analysis online and, in doing so, has made it much more accessible to the non-medical world. This means it can be accessed from anywhere with a WIFI connection and a video device. It eliminates the long wait of days or weeks for an appointment for genetic screening in a clinical setting. It also means immediate access to genetic analysis, even if in a specific region or local location, the services for such expert screening don’t exist. It eliminates having to travel long distances for the services and removes many of the barriers that currently exist to accessing genetic analysis solutions.

Why might an individual or family decide to start genetic analysis?

The decision to opt for genetic analysis is not always an easy one. But usually, it comes from a concern relating to specific symptoms or features seen in an individual, a child, or a family member.

Sometimes this sign might be related to the development of a child. The failure to meet a number of key developmental milestones in all areas of their development and a need to understand if there is an underlying reason for these delays might be one reason for considering genetic analysis.

With other features, the need for genetic analysis might be prompted by the possibility that the features suggest a specific rare disease. For example, Kabuki syndrome presents with very unique facial features, including unusually long openings between the eyelids, lower turned out eyelids, prominent eyelashes, arched eyebrows, a broad nose with a flattened lip, and large ears that are often misshapen.

In other cases, a history of a rare disease in a family, either immediate or extended, might cause a parent to consider genetic analysis for a child and related family members. This might include parents who know they are carriers of a specific mutated gene or have a family member diagnosed with a rare disease.

How do we begin genetic analysis?

If we take the FDNA Telehealth platform as an example, genetic analysis will follow these simple steps:

Make an appointment online with a genetic counselor
When prompted upload an image
Connect with a genetic expert in your area or online
Receive your genetic analysis

In recent years, genetic analysis for rare disease has come on in leaps and bounds regarding its accessibility to patients. Patients can initiate their genetic screening from the comfort of their own home while still receiving essential consultations with genetic experts who can help confirm a genetic diagnosis and recommend further necessary genetic screening options where necessary.

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Ido Rabiner
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