Whole exome sequencing (WES) has a strange relationship with obsessive-compulsive disorder (OCD).

How might WES help diagnose OCD patients? Let's take a look.

What is OCD?

  • Obsessive-compulsive disorder, commonly known as OCD, is classified as a "chronic anxiety disorder with significant morbidity, social impairment, and lower quality of life,"[1]
  • Often used as hyperbolic figure of speech, pertaining to penchant for organization
  • This is a common fallacy; most diagnosed patients of OCD suffer from life-debilitating effects due to the condition[2]
  • Prevalence of OCD dependent on several factors, including sex of individual and geographic location[3]
  • Prevalence in women (1.5%) higher than men (1.0%)[1]
  • Men more likely during childhood to be diagnosed with the disorder[2]
  • A WES-based study has never been conducted pertaining to its relationship with OCD in this manner, until now[1]
  • Study focused on 20 already-diagnosed OCD patients, exploring detection of rare de novo (DN) single-nucleotide variants (SNVs)
  • Trio-based WES was applied in all 20 cases and successfully detected several DN SNVs[2]
  • Nearly all DN SNVs found to be relevant within this study via the protein-protein interaction (PPI) network occur within the human brain[3]

Key Takeaways

  • In the primary pilot study[1] "20 simplex OCD parent-child trios" were evaluated using (trio-based) WES, to detect SNVs
  • This comes as a surprise, since such disorders, along with neurodevelopmental and psychiatric conditions, have strong genetic heterogeneity[4]
  • More studies are needed to reach conclusive remarks regarding rare mutations found within OCD
  • With larger studies, the ability to pinpoint definitive risk genes will become more possible[1]
  • Findings from such studies hold "great promise" for pushing the boundaries for understanding of fields such as OCD neurobiology as we know it[1]
  • Six genes (BAMBI, SMAD4, WWP1, MYO10, AP1G1, ATP2B2) were found to have negative Residual Variation Intolerance Scores (RVIS)
  • In simple terms, this means that the six genes listed are likely to be involved with neurodevelopmental disease(s)[5]

3billion's Genetic Test


Learn More

  • Although OCD is a common condition, which means 3billion's test would not diagnose this specific condition, studies like this lend hope to overall improvement of what researchers understand about genetics and how WES may apply
  • 3billion offers both proband and trio-based WES testing
  • To find out which test is best for your condition, consult with a licensed medical professional
  • Interested in learning more about our genetic testing process? CLICK HERE
  • Questions about tests we offer? CLICK HERE


Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways

The Reason You Don’t Have OCD

Psychological treatments versus treatment as usual for obsessive compulsive disorder (OCD)

De novo Mutations From Whole Exome Sequencing in Neurodevelopmental and Psychiatric Disorders: From Discovery to Application

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

Obsessive-compulsive disorder in adults: Epidemiology, pathogenesis, clinical manifestations, course, and diagnosis

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

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