How to Make AATD Screening National the Irish Experience

Transcription

1 How to Make AATD Screening National the Irish Experience Dr. Tomás Carroll Alpha One Foundation Royal College of Surgeons in Ireland Education and Research Centre Beaumont Hospital Dublin 9 Ireland and Genetic Disorders End of last Ice Age ~ 10,000yrs ago First humans arrived on island 9,000 yrsago (mesolithic period) Approx. 6,000yrs ago = first Irish farmers (neolithic) Brought culture, tools, and genes Ireland has a high rate of several genetic conditions, e.g. Cystic fibrosis Haemochromatosis Alpha-1 antitrypsin deficiency From: The Prehistoric Archaeology of Ireland (Waddell)

2 How common is Alpha-1 in Ireland? Prevalence of AATD on the Island of Ireland [Z and S mutations] Allele frequencies? Z = S= Island of Ireland 3,000 ZZ individuals (1/2,100) with a carrier rate of 1 in 25 12,000 SZ cases and over 250,000 MZ carriers

3 National AATD Targeted Detection Programme Who do we test? Joint Guidelines for Screening All COPD/emphysema patients (regardless of age/smoking) All non-responsive asthmatics (adults/adolescents) All patients with cirrhosis/liver disease All first degree relatives of patients/carriers with AAT deficiency Funded by Department of Health test is free

4 How do we test for Alpha-1? Blood collected & serum/plasma isolated Two tests: quantitative & qualitative 1. Measure levels of AAT AAT < 1.0 g/litre 2. Analyse the type of AAT (by isoelectric focusing or phenotyping ) Genetic analysis sometimes required DNA sequencing of AAT gene if rare mutation suspected Are we busy? Screened almost 15,000 at risk individuals to date Receiving ~ 200 samples per month from 30 + hospitals & also GPs 16% COPD 52% 9% 14% Reduced AAT Family History Liver Asthma 9%

5 What have we found? Screening for Alpha-1 in Ireland to date Almost 15,000 tested; ~ 30% possess at least one abnormal AAT gene 264 ZZ and 204 SZ individuals identified Over 2000 MZ carriers also identified (14% detection rate)

6 ZZ AATD 305 and counting! What happens once a diagnosis is made?

7 Weekly Alpha-1 Clinic Newly diagnosed & existing Alpha-1 patients can be referred to Alpha-1 Clinic for assessment Pulmonary function tests (spirometry, DLCO) HRCT scan 6 minute walk test ABGs Liver ultrasound & liver function tests Genetic counselling Fact that a care pathway exists builds confidence and trust Other AOF Activities... National Targeted Detection Programme Alpha One Foundation Staff: Kitty O Connor CEO and Respiratory Nurse Dr. Tomás Carroll Chief Scientist Laura Fee Clinical Research Associate Awareness & Health Promotion Alpha One Foundation National Alpha-1 Clinic & Information Centre Scientific & Clinical Research National Alpha-1 Registry

8 How did we get this far? Evolution of a National Targeted Detection Programme Alpha One Foundation established National Targeted Detection Programme begins in 1 centre FREE test 1 nurse, 1 scientist, 1 CEO National TDP expands to 4 hospitals 2005 First clinical trial for iv AAT Dedicated weekly Alpha-1 Clinic established First Null/Null case detected 100 th ZZ diagnosed New Null mutations Q0 cork and Q0 dublin discovered 300 th ZZ identified 34+ centres participating 15,000th person tested end of year

9 Global Barriers to Alpha-1 Awareness (and to any screening programme!) Improve education in undergraduate and postgraduate medical and scientific training Belief that AATD is a rare disorder Include primary care physicians and hepatologists in awareness efforts Perception that only early-onset non-smokers are affected Educate and empower respiratory nurse specialists Therapeutic nihilism due to lack of specific treatments Public Fear awareness of genetic campaigns discrimination Patient Lack empowerment of education and awareness (in healthcare professionals & public) Testing fatigue Update WHO and ATS/ERS guidelines for AATD Failure to admit lack of knowledge Refine COPD guidelines to include automatic testing for AATD Reluctance to lose patients to specialist centres Laboratory Lack of red-flags communication between clinicians and laboratory scientists Pulmonary Absence function of effective test red-flags national guidelines Electronic No access health to record testing prompts methods Privacy concerns Embed as routine test by creating COPD care templates and physician order reminders Perceived stigma Joint seminars between pulmonologist and laboratory scientists Presentations at national conferences Provision of free testing kits Timely, Accurate & Informative Test Reporting 14 day turnaround time Informative report with interpretative comments

10 How do we increase awareness of Alpha-1 in Ireland? Hospital seminars Conferences (ACBI) Lab red-flag on low AATs Labs Doctors & Nurses Hospital visits Conference & their bags! (ITS and ÁNAIL) COPD patient groups (local & national) Patient voice is the strongest Patient Groups Public Website & Facebook Newspapers, TV & radio 12 hospital visits so far in Laboratory Red-flag on Low AAT Results Electronic red-flag adopted in 9 large hospitals to date (Cork excellent example: since adoption 50 ZZ, 39 SZ, and 375 MZs in 1052 tests)

11 Partnership Approach US Alpha-1 Foundation and Alpha-1 Global Irish Platform for Patient Organisations, Science and Industry (IPPOSI) Medical Research Charities Group (MRCG) Irish Thoracic Society (Annual Meeting, 350+ attend) Irish Donor Network Irish Lung Health Alliance (12 charities) UCD School of Medicine COPD Support Ireland 15 COPD Patient groups around Ireland Patient Ambassadors: Awareness & Publicity Alpha-1 Congress 2013 Irish Daily Mail article on Alpha-1 Alpha-1 on front page of Metro Organ Donor Awareness Week 2013 Irish Independent February 2014 Launch of Lung Health Week Sunday Independent 2012 Minister Varadkar visit December 2014 RTE Science Squad TV special on Alpha-1

12 Communications: Web presence Communications: Social Media Alpha One Foundation Ireland

13 Ingredients for a National TDP? Hard work, teamwork, & stubborn nature Quality assured testing (accreditation) and timely, accurate reports Regular hospital visits to present testing data Patient ambassadors & targeting of local as well as national media Social media (Facebook, Twitter) & web presence Partnerships Attend & present at National Lung, Liver, and Lab conferences Respiratory Medicine, Respiratory Nurses, and Clinical Biochemistry in 2015 Get out there! 12 visits in 2015 so far (Medical schools, COPD patient groups, hospital seminars) Annual Alpha-1 Conference October 30 th COPD is a huge & growing problem in Ireland Time is right to bang the Alpha-1 drum loud and hard

14 Acknowledgements - Kitty O Connor & Laura Fee (Alpha One Foundation) - Professor Gerry McElvaney & Respiratory Research Department (RCSI Beaumont Hospital) - Pat O Brien, Emma Pentony, and Prof.Bill Tormey(Dept. of Chemical Pathology, Beaumont Hospital) - Dr. Ilaria Ferrarotti and Prof. Maurizio Luisetti, RIP (University of Pavia) RCSI Clinical Research Centre Dziękuję! Go raibh maith agaibh! Alpha One Foundation RCSI Smurfit Building Beaumont Hospital Phone: alpha1@rcsi.ie Web:

15 This famous 1871 map was drawn 20 years after An GortaMór(The Great Famine) Irish language was in huge decline and mass waves of emigration saw the population drop from 8m to 4m. Irish people scattered to the 4 corners of the world (USA, Canada, Australia & Argentina) was Alpha-1 also exported?