World Primary Immunodeficiency Week 22-29 April 2023
To coincide with World Primary Immunodeficiency Week, 22-29 April and the International Day of Immunology, 29 April 2023, ASCIA has issued the following media release, which is distributed by Lanham Media.
AAP have covered the story on Friday 21 April which has been published by 60 outlets including Daily Mail, West Australian, Canberra Times and others: Calls for national rules on genetic testing - The Canberra Times
Sydney Morning Herald also covered the story on Monday 24 April: Archie waited 32 years for a diagnosis. His nephew waited two months - Sydney Morning Herald
Urgent Need for Access to Genetic Testing for Immune Deficiencies
The Australian immunology community is united in urging policymakers and healthcare providers to ensure fair access to genomic testing for primary immunodeficiencies (PIs) in Australia. PIs are a group of over 400 rare and serious genetic disorders that significantly compromise the immune system's capacity to defend the body against infections and diseases. As a result, people with PIs are highly vulnerable to a wide range of infections and are at a heightened risk of having severe and life-threatening complications. This can lead to recurrent and persistent infections that can be difficult to treat, as well as an increased likelihood of developing serious health conditions.
Genomic testing is a type of medical testing that is used that examines a person's DNA to look for changes or variations that may cause or increase the risk of certain health conditions. This can help doctors diagnose and treat diseases, predict a person's risk of developing certain conditions, and personalise medical care.
Currently, specific children with cancer in Australia have access to in-depth genomic analysis through the Zero Childhood Cancer Program. The program's success in improving outcomes for these children has led to its expansion. This ability of early diagnosis is vital in people receiving precision treatment early in life.
The peak professional immunology and allergy organisation the Australasian Society of Clinical Immunology and Allergy (ASCIA), and patient/carer support organisations, Immune Deficiencies Foundation Australia (IDFA) and AusPIPS, are calling for a similar program to be established for people with PIs, who also require early and accurate diagnoses and targeted medical treatment.
“Unfortunately, access to genomic testing for primary immunodeficiencies is not currently equitable across Australia, which means that many people are not receiving the potentially life-saving care and treatment they need. It is truly devastating to lose patients, especially young ones, due to delayed diagnosis or the inability to control severe infections. We urge the Australian Government and state and territory governments to establish a jointly funded national genomics testing program, as recommended in the Parliamentary Inquiry into new drug and medical technology approval processes to ensure that genomic testing is accessible to all," says Dr Melanie Wong, a paediatric clinical immunology/allergy specialist and co-chair of the ASCIA Immunodeficiency Strategy.
Although individual cases of primary immunodeficiencies are uncommon, when considered collectively, they are estimated to affect 1 in 25,000 people. It is alarming to note that 70-90% of individuals with PI remain undiagnosed worldwide. In Australia (Victoria), research reveals that the average time taken for adults to receive a diagnosis after symptom onset is 8 years, and each year of delay in diagnosis results in a decrease in life expectancy.
54-year-old Pearl Sims, despite recurrent illness her whole life, was only diagnosed with Immunoglobulin G subclass deficiency at 31, which progressed to Common Variable Immunodeficiency (CVID) at age 41.
"I've been through so much because of my delayed diagnoses – missed school and work days, strained relationships, social isolation, and even the inability to have children of my own. It's been a constant struggle to fight for testing and a deeper understanding of my condition, and it breaks my heart to think that early detection could have made a huge difference. I firmly believe that knowledge is power, and genomic testing could have given me the answers I needed years ago, potentially sparing me from years of pain and missed opportunities. I also want to be able to provide information to my family for their own knowledge, but I am still on a long waitlist to get tested," says Ms Sims.
Carolyn Dews, CEO of IDFA, believes that access to genomic testing is vital for people living with PIs to enhance their quality of life and make meaningful contributions to society.
“Living with a PI can be incredibly challenging, with frequent hospitalisations, severe symptoms, and limited social interactions. This often leads to social isolation and mental health issues. Access to genomic testing will provide people with a chance to live a productive life free from the constraints of their illness,” says Ms Dews.
Genomic testing can help in the following ways:
- Accurate Diagnosis: Genomic testing can identify the genetic mutations that cause primary immunodeficiencies, which helps doctors accurately diagnose the specific type of PI a person has. This is important for selecting appropriate treatments and managing the condition.
- Family Screening: Genomic testing can identify if family members of an affected individual also carry the same genetic mutation, which can help with early diagnosis and treatment.
- Precision Medicine: Genomic testing can help doctors tailor treatment plans to an individual's specific genetic makeup. For example, some primary immunodeficiencies can be treated with gene therapy, which involves introducing a healthy copy of a mutated gene back into a person's cells. Genomic testing can identify the specific genetic mutation that needs to be targeted with gene therapy.
- Research and Development: Genomic testing can provide important insights into the underlying biology of primary immunodeficiencies, which can inform the development of new treatments and potential cures.
“Many people with immune deficiency experience a long journey, often years, between developing symptoms and obtaining a clear diagnosis. Genomic testing increases the speed and accuracy of diagnosis, thereby enabling targeted treatments that can greatly improve health and prevent complications. Genomic testing and interpretation for primary immune deficiency offers so much promise that it should be fairly available to all,” finished Professor Jo Douglass, clinical immunology/allergy specialist and co-chair of the ASCIA Immunodeficiency Strategy.
Available for interview:
- Dr Melanie Wong (NSW) - paediatric clinical immunology/allergy specialist and co-chair of the ASCIA Immunodeficiency Strategy
- Professor Jo Douglass (VIC) - clinical immunology/allergy specialist and co-chair of the ASCIA Immunodeficiency Strategy.
- Carolyn Dews (NSW), CEO of Immune Deficiencies Foundation Australia (IDFA)
- Associate Professor Theresa Cole (VIC) - ASCIA President and paediatric clinical immunology/allergy specialist
This news item was issued on 24 April 2023 by Jill Smith, CEO of the Australasian Society of Clinical Immunology and Allergy (ASCIA). ASCIA is the peak professional body for clinical immunology and allergy in Australia and New Zealand.