Molecular Network-Selected Pharmacogenomics in a Case of Bipolar Spectrum Disorder

Abstract

Personal genomic analysis was used for molecular diagnosis and pharmacogenomics in a 53-year-old female suffering from alternating depressive and dysphoric episodes. A total of 52 genes and 108 SNPs were analyzed in the whole genome. Results from the pharmacogenomic analysis were consistent with the pharmacological history and indicate mutations associated with low monoaminergic tone, but also a hyperactive 5HT2A receptor, a feature that associates to a high probability of developing a bipolar condition, especially under 5-hydroxytryptamine potentiating pharmacology. This aligns with the patient developing dysphoria with high clomipramine. The pharmacokinetic genomics pointed out to some absorption, distribution, metabolism, and excretion (ADME) alterations that can lower or nullify drug’s activity. A personalized regimen was proposed, with a positive outcome after 1 year.

Keywords::

• antidepressants
• antipsychotics
• bipolar spectrum disorder
• monoaminergic transmission
• network pharmacology
• neurotransmitters
• personalized medicine
• psychiatry

Financial & competing interests disclosure

Disclose any financial interests. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Ethical conduct of research

The facility is part of a group of private healthcare providers operating under agreement with the public healthcare system to deliver healthcare to the public. The center is also ISO9001 certified and accredited for excellence in healthcare by Accreditation Canada International. Informed consent was obtained by the patient and the retrospective observational study was carried out according to good practice in clinical research guidelines, the principles outlined in the Declaration of Helsinki have been followed and, following national Italian legislation, registered and notified to the local reference Ethics Committee.