Information updates

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.

Media contact: Greg Townley | This email address is being protected from spambots. You need JavaScript enabled to view it. | 0414 195 908

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:

1. 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.
2. 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.
3. 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.
4. 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 

ASCIA Oral Immunotherapy (OIT) for Food Allergy Position Paper for health professionals has been updated in April 2023 and is available open access on the ASCIA website: www.allergy.org.au/hp/papers/ascia-oral-immunotherapy-for-food-allergy

The ASCIA OIT for Food Allergy Position Paper includes the following current ASCIA recommendations for management of food allergy:

• Currently, ASCIA does not recommend food OIT as a routine clinical treatment for patients with food allergy. For most patients, with the exception of patients with egg and milk allergy who tolerate those foods in baked forms, strict avoidance of confirmed food allergens remains the standard of care. This recommendation will remain in place until the long-term efficacy and safety of food OIT is optimised, and long-term patient-important and other clinically relevant outcomes are shown to be improved by OIT.

• There remains potential for OIT to provide long term benefits for patients with food allergy. ASCIA strongly supports the provision of clinical trials to address this data gap and increased access to OIT in clinical trials for those patients and families who wish to undertake OIT.

• While ASCIA recommends that food OIT should be undertaken in the context of a clinical trial, these opportunities may not always be available to patients. If food OIT is being considered outside of a clinical trial, ASCIA recommends a shared decision-making process with appropriate expert consultation and documentation of informed consent, and that OIT is provided under the supervision of a clinical immunology/allergy specialist, as part of a multidisciplinary team with expertise in food OIT. In these circumstances, ASCIA recommends that standardised measures of safety, effectiveness and patient-reported outcomes are collected to address the current gaps in knowledge.

• If such therapy is undertaken, OIT should be performed using published peer reviewed treatment protocols. Dose increases must take place with qualified staff in a facility that has the necessary equipment to treat anaphylaxis. Prior to commencing OIT, a clinical diagnosis of allergy to the food in question must be established; a diagnosis cannot be based on skin tests or blood tests in isolation. A supervised oral food allergen challenge in an appropriate setting may be needed to confirm the diagnosis or to establish a reaction threshold.

• Any patient receiving OIT should have an adrenaline injector available at all times. Comprehensive anaphylaxis education regarding the recognition and management of anaphylaxis should be provided for the patient and/or their carers and a written management plan should be provided. Clear written information about when to avoid a dose (for example, prior to exercise) should be provided.

This is an important ASCIA document which will next be reviewed and updated in 2024, once a systematic review on food allergy treatments is completed, which we expect will be in late 2023.

ASCIA OIT for Food Allergy Frequently Asked Questions (FAQ) for patients and carers is also available on the ASCIA website:

www.allergy.org.au/patients/allergy-treatments/oral-immunotherapy-for-food-allergy

ASCIA Intravenous Immunoglobulin (IVIg) Infusion Guidelines provide standardised infusion rates for both 5% and 10% IVIg solutions, regardless of product. These have been developed to avoid confusion, as individual IVIg products recommend different weight-based rates of infusion.

ASCIA IVIg Infusion Guidelines have been updated in April 2023 and are available at www.allergy.org.au/hp/papers/ascia-guidelines-for-standardised-ivig-infusion-rates-for-irt 

The updates include:

• Details about Privigen AU^® (CSL Behring), which will replace Intragam^® 10 when it is phased out in 2023.
• Details about Flebogamma^® 10% (Grifols), Gamunex^® (Grifols), Kiovig^® (Takeda) and Octagam^® 10%  (Octapharm).
• Addition of ‘A reduction in maximum infusion rate may be required if post infusion symptoms such as headache or myalgia occur’ to the guide to follow when adverse reactions occur.
• Amendment of 3 ml/kg/hour to 6 ml/kg/hour under ‘Subsequent Infusions’.

The rates that are recommended in the ASCIA Guidelines are generally well tolerated and are for patients with immune deficiency on replacement IVIg therapy. Patients using IVIg for other conditions such as Kawasaki disease or immunomodulation should follow local protocols.

There are several types of penicillin antibiotics available, which are important for treating bacterial infections.

Many people are told that they have a penicillin allergy, or think that they have penicillin allergy, and are ‘labelled’ as having a penicillin allergy in their medical records. However, studies have shown that up to nine in ten of these people do not have a true penicillin allergy. Therefore, it is important to find out if you have a true penicillin allergy, so that you can receive the best treatment when you have a bacterial infection.

To answer the most frequently asked questions (FAQ) about penicillin allergy,  ASCIA Penicillin Allergy FAQ has been developed and is available at :

www.allergy.org.au/patients/drug-allergy/penicillin-faq

Being told that you have a penicillin allergy or thinking that you have a penicillin allergy when you do not have true penicillin allergy can mean that alternative antibiotics need to be used. These can result in longer treatment times, increased risk of side effects and higher healthcare costs.

If you have been labelled with a penicillin allergy, talk to your healthcare provider about being tested to find out if you have a true allergy. This information can help ensure that you receive the most effective and efficient treatment of bacterial infections.

The ASCIA Guide for Milk Substitutes in Cow’s Milk Allergy (CMA) has been updated in in April 2023 to include new rice protein based formula, and is available open access on the ASCIA website www.allergy.org.au/hp/papers/guide-for-milk-substitutes-cows-milk-allergy  

There are now two brands of rice protein based formula available in Australia:

• Alula^® Gold Allergy (Sanulac)
• Novalac^® Allergy (Aspen Australia)

Whilst there are advantages in having multiple brands of rice protein based formula available, the updated ASCIA Guide includes statements on page 2 regarding:

• Product specific hypo-allergenicity and growth studies.
• Limited data on the use of rice protein based formula in non-IgE mediated food allergy.

Breastfeeding is recommended for the many benefits it brings to both the mother and child. If breastfeeding is not possible, the ASCIA Guide for Milk Substitutes in CMA can:

• Assist health professionals in recommending substitute milks when an infant has CMA. 
• Provide information about safe, nutritionally equivalent alternatives if a particular specialised formula is not available due to supply issues.

Exclusion of cow’s milk from a breastfeeding mother’s diet is not necessarily required in CMA and should be discussed with a specialist. If undertaken, cow’s milk exclusion should be supervised by a dietitian. 

Nucala® (mepolizumab) is now subsidised by the Pharmaceutical Benefits Scheme (PBS) from 1 April 2023 as an add-on treatment for adult patients (18 years and above) with chronic rhinosinusitis with nasal polyps (CRSwNP) that is severe, eosinophilic and recurrent post-surgery.

Nucala is the first biologic treatment to be PBS listed for the treatment of severe CRSwNP, which provides subsidised access to a new treatment option for people with this condition.

To read the GSK media release go here 

To access the ASCIA submission supporting the PBS listing of CRSwNP  go here

To view the Health Minister's announcement of the funding for Nucala for nasal polyps go here 

Thank you to the ASCIA CRSwNP working party for developing the ASCIA CRSwNP Position Paper which provides important details about the management of CRSwNP. This Position Paper was developed in conjunction with the Australian Society of Otolaryngology Head & Neck Surgery (ASOHNS). The working party members are A/Prof Raewyn Campbell, Prof Richard Harvey, Prof Connie Katelaris AM (Chair), Prof Michaela Lucas, Dr Kathryn Patchett, A/Prof Janet Rimmer and Prof Ray Sacks.

ASCIA supports the PBS listing of Nucala for the following reasons::

• The advent of effective, targeted biologic therapies such as Nucala® (mepolizumab), for the management on nasal polyps in CRS, with very acceptable safety profiles, is a welcome addition to current management options. The PBS listing of Nucala® (mepolizumab) ensures equitable access to Australians with nasal polyps in CRS.
• Studies have shown statistically significant reduction in nasal polyps after treatment with Nucala® (mepolizumab) dosing in most patients, and a decreased number of patients requiring surgery. Therefore, the PBS listing of Nucala® (mepolizumab) for treatment of patients with nasal polyps in CRS should make a significant difference to the health outcomes for patients and health-economic benefits for the health system, by decreasing the need for surgery and reducing the use of steroids.
• CRSwNP has a significant impact on quality of life, especially when atopic diseases, asthma or other comorbidities are present. Therefore, the PBS listing of Nucala® (mepolizumab) for nasal Polyps in CRS should also have indirect health-economic benefits by improving the health related quality of life for patients, reducing absenteeism and increasing productivity.

A series of consultation meetings are being held for the National Allergy Council Shared Care project in May and June 2023. This project aims to improve access to quality healthcare for people with allergies, particularly in regional, rural and remote areas. ASCIA’s involvement in the project includes education and training of health professionals.

To register for a consultation meeting being held in May and June 2023 go here.

To subscribe to communications about this project go to Shared care for allergy bulletin.

Thank you to our generous supporters, who have enabled the Allergy and Immunology Foundation of Australasia (AIFA) to offer eight research grants to ASCIA members in 2023. 

To donate to allergy and immunology research go to www.allergyimmunology.org.au/donate

The 2023 AIFA grant round is now open and expressions of interest are due by 5 May 2023.

Grants to be awarded in September 2023 are as follows:

• $20,000  Professor Ann Kupa AIFA Food Allergy Research Grant 
• $15,000  DBV Technologies AIFA Food Allergy Research Grant 
• $15,000 CSL Behring AIFA PID Clinical Research Grant 
• $15,000 CSL Behring AIFA HAE Clinical Research Grant 
• $40,000 (4 x $10,000) AIFA Research Grants 

The four grants of $10,000 are to get new research projects off the ground. They are available to Early Career Researchers which include:

• Early career scientist researchers
• Emerging clinician researchers (such as advanced trainees)
• Other health professionals (dietitians, nurses, pharmacists)

Grants are awarded as part of a competitive research grant program. 

To find out how to submit an expression of interest for an AIFA grant in 2023 read more here

AIFA ensures that 100% of donations and sponsorship goes directly to fund grants for allergy and immunology research. Read more here