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Clinical utility of genomics in immunological conditions

Clinical utility of genomics in immunological conditions

Background

Melbourne Genomics’ 16 Clinical Flagships have been at the forefront of determining when genomic testing makes a demonstrable difference to the safety and quality of patient care.

The Melbourne Genomics Immunology Clinical Flagship investigated several immune disorders with a known genetic basis. These include primary immunodeficiencies (PIDs), systemic auto-inflammatory diseases (SAIDs) and hereditary angioedema (HAE) – conditions that severely impact daily life and are typically very difficult to diagnose accurately.

Patients with immune conditions often remain undiagnosed and without appropriate treatment for many years. This ‘diagnostic odyssey’ can result in patients undergoing invasive and unnecessary testing, as well as loss of good health and quality of life.

Publications

“Delayed diagnosis and complications of predominantly antibody deficiencies in a cohort of Australian adults”, Charlotte A. Slade, Julian J. Bosco, Tran Binh Giang, Elizabeth Kruse, Robert G. Stirling, Paul U. Cameron, Fiona Hore-Lacy, Michael F. Sutherland, Sara L. Barnes, Stepehen Holdsworth, Samar Ojaimi, Gary A. Unglik, Joseph De Luca, Mittal Patel, Jeremy McComish, Kymble Spriggs, Yang Tran, Priscilla Auyeung, Katherine Nicholls, Robyn E. O’Hehir, Philip D. Hodgkin, Jo A. Douglass, Vanessa L. Bryant and Menno C. van Zelm, Frontiers in Immunology (2018), doi.org/10.3389/f”immu.2018.00694

“Pitfalls of immunotherapy: lessons from a patient with CTLA-4 haploinsufficiency”, Leisa Rebecca Watson, Charlotte A. Slade, Sama Ojaimi, Sara Barnes, Pasquale Fedele, Prudence Smith, Justine Marum, Sebastian Lunke, Zornitza Stark, Matthew F. Hunter, Vanessa L. Bryant, Michael Sze Yuan Low, Allergy Asthma Clin Immunol. (2018), doi: 10.1186/s13223-018-0272-7

Project description

The objective: to determine whether genomic sequencing can provide more accurate diagnosis for patients with immune disorders that have a suspected monogenic basis, and lead to more effective treatment and improved care for their specific condition.

Patients received genomic testing in parallel with usual testing and care for their condition.

Patients from four major hospitals participated. Most had previously been seen in an immunology, immunogenetics, genetics or other specialist clinic.

The Immunology Flagship was led by Professor Jo Douglass from The Royal Melbourne Hospital (RMH), with key coordination by Dr Charlotte Slade (RMH and WEHI) and Dr Vanessa Bryant (WEHI). The Flagship directly involved at least 26 healthcare and research professionals, plus a wider group of 36 experts (including nurses, health economists, biostatisticians, clinicians and registrars).

Activities, outcomes and lessons learnt

Findings from this project will be made available following publication of results.

Impact

The Flagship has driven national conversations about the identification and treatment of patients with immune system diseases, leading to development of a national immunodeficiency strategy (https://www.nationalimmunodeficiencystrategy.org.au).

Clinical Flagship team




Name

Organisation

Role

Jo Douglass

RMH

Clinical immunologist

Charlotte Slade

RMH/WEHI

Clinical immunologist

Vanessa Bryant

WEHI

Researcher

Alison Trainer

RMH

Clinical geneticist

Anna Jarmolowicz

MCRI/VCGS

Genetic counsellor

Belinda Creighton

Monash Health

Genetic counsellor

Ben Van Dort

RCH

Clinical nurse consultant

Emma Creed

RMH

Genetic counsellor

Fiona Moghaddas

WEHI

Clinical immunology registrar

Gary Unglik

RMH

Clinical immunologist

Gemma Brett

MCRI/VCGS

Genetic counsellor

Giulia Valente

Austin Health

Genetic counsellor

Heather Chalinor

Austin Health

Genetic counsellor

Ingrid Winship

RMH

Clinical geneticist

Jeremy McComish

RMH

Clinical immunologist

Jo Smart

RCH

Clinical immunologist

Jonathan Akikusa

RCH

Paediatric rheumatologist

Katherine Nicholls

RMH

Clinical immunologist

Kirsty West

RMH

Genetic counsellor

Matthew Hunter

Monash Health

Clinical geneticist

Melanie Bahlo

WEHI

Bioinformatician

Michael Sutherland

Austin Health

Respiratory physician

Mimi Tang

RCH

Clinical immunologist

Peter Gowdie

Monash Health

Rheumatologist

Sara Barnes

Monash Health

Clinical immunologist

Seth Masters

WEHI

Researcher

Stephen Holdsworth

Monash Health

Clinical immunologist

Yael Prawer

Monash Health

Genetic counsellor

Zornitza Stark

MCRI/VCGS

Clinical geneticist

This Clinical Flagship has also garnered involvement from a wider group of 36 professionals, including clinicians (immunologists, rheumatologists), registrars, nurses, an administrative co-ordinator, clinician-researchers, researchers, health economists and a biostatistician.