Inherited disorders

Assessing genetic predisposition for confident decision making
Patient and MD

Inherited disorders

Assessing genetic predisposition for confident decision making
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Inherited disorders are common conditions

Many human disorders have a genetic origin and can be attributed to variations or biological triggers in a person’s genome. Symptoms vary widely and can often mirror common conditions, resulting in many patients being misdiagnosed.

Data-driven insights from SOPHiA GENETICS can inform decisions across multiple disease areas, including rare diseases, neurology, cardiology and metabolism.

Disease areas

Rare diseases

• 300 million people are affected by rare diseases.2
• 6,000 different rare diseases have been identified.2
• Approximately 70% are genetic and start in childhood.2

We support experts in rapidly and accurately* identifying conditions such as Fabry disease, cystic fibrosis, Duchenne muscular dystrophy, Gaucher disease and Pompe disease.

2EURORDIS-Rare Diseases Europe, Orphanet & Orphanet Ireland. (2019) ‘Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database’, European Journal of Human Genetics, 28, pp165-173.


• Cardiac diseases are the #1 cause of death globally.3
• The world’s biggest killer is ischaemic heart disease, responsible for 16% of the world’s total deaths.3
• In most cases, inherited DNA mutations play a role in conferring risk for the disease.4

With the democratization of genomic analysis, cardiology is ready to enter a new era. The SOPHiA DDM™ platform helps identify conditions including cardiomyopathies and familial hyperlipidemia.

3World Health Organization. (2020) ‘The top 10 causes of death’, 9 December [Online]. Available at: (Accessed: 23 April 2021)

4Harvard Heart Letter. (2017) ‘The genetics of heart disease: an update’, Harvard Health Publishing, September.


• Neurological disorders are the #1 cause of disability in the world.5
• 9 million deaths worldwide are related to neurological conditions.5

Genomics has the potential to inform treatment decisions. The SOPHiA DDM™ platform helps identify neurological diseases including epilepsy and seizure disorders, Huntington’s disease, autism spectrum disorders and neuromuscular disorders.*

5Feigin, V. L., et al. (2020) ‘The global burden of neurological disorders: translating evidence into policy’, The Lancet Neurology, 19(3), pp255-265.


• It is estimated that by 2040, approximately 1 in 11 people worldwide will have a metabolic disorder.6
• Inherited metabolic disorders may take years to develop.
• Diagnosis and treatment are crucial to manage severe morbidity.

Thanks to the adoption of genomics, hospitals worldwide can rapidly and precisely detect metabolic conditions. Data-driven medicine applications provide the means to decode and interpret genetic changes as well as various inherited metabolic disorders, including several forms of nonalcoholic fatty liver disease, nonalcoholic steatohepatitis, glycogen storage disorders, congenital disorder of glycosylation and maturity onset diabetes of the young (MODY).

6Grand View Research. (2019) ‘Metabolic Disorder Therapeutics Market Size, Share & Trends Analysis’, Research and Markets, January.

Our approach to inherited disorders



Covers the entire care path



Allows experts to share knowledge in real time



Reaches high analytical performance*



Offers a scalable, decentralized model


healthcare institutions around the world

Decentralized approach

The SOPHiA DDM™ platform connects one of the world’s largest data-driven medicine communities, allowing global collaboration. Data is shared and accessed safely to inform inherited disorders management, from drug development to assessment.
Machine Learning

AI-based data-driven medicine

Deep learning and advanced statistical algorithms are used to derive insights from multimodal data (e.g., genomics, radiomics), pushing the boundaries of innovation and supporting subject stratification and biomarker discovery.
genomic profiles

Growing knowledge base

A growing real-world knowledge base of NGS testing provides insights that have the potential to inform disease management.
Multimodal Insights

Multimodal approach for today and tomorrow

Complex multimodal datasets and different data modalities can generate deep and novel insights. The SOPHiA DDM™ platform can scale with digital health modalities beyond genomics.
10 years
experience in genomic solutions

World-leading genomic expertise

Accurate, streamlined, decentralized and customizable testing calls variants with high levels of accuracy.
Collaborative Intelligence

Global collaborative platform

Secured knowledge sharing capabilities provide access to valuable information.
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