1.Pharmacogenomics in psychiatry: Practice recommendations from an Asian perspective (2024).
Shih Ee GOH ; Saumya Shekhar JAMUAR ; Siew Eng CHUA ; Derrick Chen Kuan YEO ; Jerome Hern Yee GOH ; Chee Hon CHIN ; Mohamed Zakir KARUVETIL ; Ee Lian LEE ; Daniel Shuen Sheng FUNG ; Giles Ming Yee TAN
Annals of the Academy of Medicine, Singapore 2024;53(12):734-741
INTRODUCTION:
Pharmacogenomic testing in psychiatry is an emerging area with potential clinical application of guiding medication choice and dosing. Interest has been fanned by commercial pharmacogenomic providers who have commonly marketed combinatorial panels that are direct-to-consumer. However, this has not been adopted widely due to a combination of barriers that include a varying evidence base, clinician and patient familiarity and acceptance, uncertainty about cost-effectiveness, and regulatory requirements. This review aims to examine recent updates in this field and provide a contextualised summary and recom-mendations for Asian populations in order to guide healthcare professionals in psychiatric practice.
METHOD:
A review of recent literature about current evidence and guidelines surrounding pharmacoge-nomics in psychiatric practice was carried out with particular attention paid to literature evaluating Asian populations. The Grading of Recommendations Assessment, Development and Evaluation Evidence to Decision framework was applied. Consensus meetings comprising workgroup psychiatrists from the public and private sectors were held prior to arriving at the key recommendations.
RESULTS:
Pharmacogenomic testing should be mainly limited to drug-gene pairs with established clinical evidence, such as antidepressants and CYP2C19/ CYP2D6. Direct-to-consumer pharmacogenomic panels that assay multiple genes and analyse them via proprietary algorithms, are not presently recommended in Singapore's psychiatric setting due to inconclusive evidence on clinical outcomes.
CONCLUSION
Pharmacogenomic testing in psychiatry is not recommended as standard clinical practice. Exceptions may include concerns about drug concentrations or potential severe adverse drug reactions. Studies investigating newly identified drug-gene associations, and clinical effectiveness and cost-effectiveness of utilising pharmacogenomic testing in psychiatry is encouraged.
Humans
;
Psychiatry/methods*
;
Pharmacogenetics
;
Cytochrome P-450 CYP2C19/genetics*
;
Asian People/genetics*
;
Pharmacogenomic Testing/methods*
;
Antidepressive Agents/therapeutic use*
;
Cytochrome P-450 CYP2D6/genetics*
;
Practice Guidelines as Topic
;
Singapore
;
Mental Disorders/genetics*
;
Psychotropic Drugs/therapeutic use*
2.Therapeutics in paediatric genetic diseases: Current and future landscape.
Ai Ling KOH ; Saumya Shekhar JAMUAR
Singapore medical journal 2023;64(1):7-16
There are more than 7,000 paediatric genetic diseases (PGDs) but less than 5% have treatment options. Treatment strategies targeting different levels of the biological process of the disease have led to optimal health outcomes in a subset of patients with PGDs, where treatment is available. In the past 3 decades, there has been rapid advancement in the development of novel therapies, including gene therapy, for many PGDs. The therapeutic success of treatment relies heavily on knowledge of the genetic basis and the disease mechanism. Specifically, gene therapy has been shown to be effective in various clinical trials, and indeed, these trials have led to regulatory approvals, paving the way for gene therapies for other types of PGDs. In this review, we provide an overview of the treatment strategies and focus on some of the recent advancements in therapeutics for PGDs.
Child
;
Humans
;
Genetic Diseases, Inborn/therapy*
;
Genetic Therapy
3.Milder Form of Urea Cycle Defect Revisited: Report and Review of Hyperornithinaemia-Hyperammonaemia-Homocitrullinuria (HHH) Syndrome Diagnosed in a Teenage Girl Presenting with Recurrent Encephalopathy.
Syeda Kashfi QADRI ; Teck Wah TING ; James Sc LIM ; Saumya Shekhar JAMUAR
Annals of the Academy of Medicine, Singapore 2016;45(12):563-566
Amino Acid Transport Systems, Basic
;
genetics
;
Brain Diseases
;
diagnosis
;
etiology
;
Child
;
DNA Mutational Analysis
;
Diet, Protein-Restricted
;
Female
;
Humans
;
Hyperammonemia
;
complications
;
diagnosis
;
diet therapy
;
genetics
;
Ornithine
;
deficiency
;
genetics
;
Recurrence
;
Severity of Illness Index
;
Urea Cycle Disorders, Inborn
;
complications
;
diagnosis
;
diet therapy
;
genetics

Result Analysis
Print
Save
E-mail