Have you still been undiagnosed by your doctor after a genetic test? Did your doctor try reanalysis?

Recent studies show that with reanalysis, the diagnostic rate of undiagnosed patients increases by at least 10%.

In a 2019 study, the diagnostic rate of genetic diseases nearly doubled from 24.8% to 46.8% with reanalysis done within 5 years.  

Why does reanalysis of genetic information increase the diagnostic rate? There are three main reasons.
Source 1, 2

Every month, new rare diseases are discovered.

  • At the time of the first diagnosis, the diagnosis may have not been possible due to the lack of relevant knowledge and evidence, but with new information, the likelihood of diagnosis increases.
  • According to the International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases, with the development of NGS technology, 200-260 rare genetic diseases (RGD) are discovered annually.
Approximate Number of Gene Discoveries Made by WES and WGS versus Conventional Approaches since 2010 according to OMIM Data

New Symptoms = Key to Diagnosis

Several undiagnosed cases are due to incomplete family history or incomplete symptom information. This can be due to new symptoms developing over time, which can often be the case for rare diseases, which can be critical clues for diagnosis.

As new research and evidence is discovered, even previously documented symptoms can become critical information for rare genetic disease diagnosis.

Approximate Number of Novel Gene-Phenotype Discoveries from 2010 to 2015 according to Orphanet Data

Genetic Information Analysis Technology is Rapidly Advancing

Through advances in AI technology, algorithms, hardware, data accumulation and integration, and utilization of various databases, the diagnostic rate of rare diseases continues to increase rapidly.

Advancements in technology make it possible to conduct various analyses, such as CNV(Copy Number Variation), SV(Structural Variant), MtDNA Analysis with NGS genetic information, leading to more and more rare genetic disease diagnosis.

Reanalysis every two years? We do it daily.

For the above reasons, ACMG recommends reanalysis of genetic data for undiagnosed patients at least once every two years.

However, because the benefits of reanalysis are often overlooked, and the costs involved are often passed along to the patient, many patients continue to suffer through an endless diagnostic odyssey.

However, 3billion reanalyzes the data of undiagnosed patients on a daily basis, reflecting the latest research and evidence as it becomes immediately available without additional cost or burden on not only the physician but more importantly the patient.

If you would like to learn more about how 3billion has ended countless diagnostic odysseys through their groundbreaking technology through inspiring stories of physicians and patients ending their own odyssey, please click the button below.

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