ACKR1 genetic testing should be offered before starting clozapine treatment

  • Stephen Murtough
  • , Daisy Mills
  • , Noushin Saadullah Khani
  • , Marius Cotic
  • , Lauren Varney
  • , Alvin Richards-Belle
  • , Rosemary Abidoph
  • , Nicholas Bass
  • , Dharmisha Chauhan
  • , Sarah Curran
  • , Yogita Dawda
  • , Jana de Villiers
  • , Frances Elmslie
  • , Robert J. Howard
  • , Sophie E. Legge
  • , Alexander Martin
  • , Andrew McQuillin
  • , Daniele Panconesi
  • , Antonio F. Pardiñas
  • , Suzanne Reeves
  • Maria Richards-Brown, Jane Sarginson, Anna Skowronska, Oriella Stellakis, James TR Walters, Jessica Woodley, Beverley Chipp, Shreyans Gandhi, Sara Stuart-Smith, Dyfrig A. Hughes, Munir Pirmohamed, Huajie Jin, Olubanké Dzahini, Elvira Bramon

Research output: Contribution to journalArticlepeer-review

Abstract

Clozapine is the most effective therapy for treatment-resistant schizophrenia, although it can cause neutropenia. In many countries, neutrophil count monitoring is mandatory for people taking clozapine, who must remain above a minimum threshold to start and continue treatment. Some people have low neutrophil counts without increased infection risk, caused by a homozygous variant in ACKR1 and termed ACKR1/DARC-associated neutropenia (ADAN). When ADAN is confirmed, reduced neutrophil count thresholds are applied to allow people to start and continue clozapine. However, ADAN diagnoses are often missed, resulting in reduced access to clozapine and unnecessary discontinuation. We review the evidence for ACKR1 genetic testing to rapidly identify ADAN in people taking clozapine. With multidisciplinary input, we recommend internationally relevant test eligibility criteria, comprising pre-emptive and reactive testing strategies, and we conduct a health economic analysis, estimating total cost savings between £42,732 and £727,990 for the UK healthcare system during the first year of testing. Finally, we propose how to integrate these criteria into clinical practice to enable equitable access to clozapine.
Original languageEnglish
Pages (from-to)30-41
JournalNature Mental Health
Volume4
Early online date7 Jan 2026
DOIs
Publication statusPublished - 7 Jan 2026

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