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Exciting PrOSPeCTs for precision cancer treatments

Exciting PrOSPeCTs for precision cancer treatments

A new study is underway aimed at getting thousands of Australian cancer patients onto potentially life-saving clinical trials and providing precision oncology treatments, with NSW Health Pathology’s Statewide Genomics Sequencing Service playing a key role.

The PrOSPeCT (Pre­ci­sion Oncol­o­gy Screen­ing Plat­form Enabling Clin­i­cal Tri­als) project, Aus­trali­a’s largest can­cer genomics ini­tia­tive, is aim­ing to rev­o­lu­tionise can­cer treat­ment and pro­vide new hope for can­cer patients.

Launched in July 2023, PrOSPeCT links Australia’s top can­cer research insti­tutes with indus­try part­ners and gov­ern­ment organ­i­sa­tions, open­ing up new treat­ment paths for 23,000 Aus­tralians with rare, or dif­fi­cult-to-treat can­cers, includ­ing ovar­i­an and pan­cre­at­ic can­cer, sar­co­mas and can­cer metastasis.

It will pro­vide free access to NSW Health Pathology’s world-class genom­ic pro­fil­ing, clin­i­cal assess­ment of results by an expert clin­i­cal team and match­ing to the best advanced pre­ci­sion (‘per­son­alised’) treat­ments avail­able local­ly, includ­ing ear­ly-stage clin­i­cal trials.

NSW Health Pathol­o­gy is pro­vid­ing a range of ser­vices for PrOSPeCT including:

  • blood col­lec­tion
  • sup­ply of diag­nos­tic tissue
  • cen­tral tis­sue sec­tion­ing at Prince of Wales Hos­pi­tal Rand­wick anatom­i­cal pathol­o­gy laboratory
  • genom­ic sequencing/comprehensive genom­ic pro­fil­ing ser­vices at our Genomics State-wide Sequenc­ing Ser­vice and Mol­e­c­u­lar Med­i­cine Depart­ment in Newcastle
  • stor­age of blood sam­ples at the NSW Health Statewide Biobank (NSWHSB), and
  • logis­tics, ICT infra­struc­ture, bioin­for­mat­ic, oper­a­tional and research support.

NSW Health Pathol­o­gy expects to receive more than 3,500 sam­ple requests over the course of the program.

Senior Hos­pi­tal Sci­en­tist for NSWHP’s Statewide Genomics Sequenc­ing Ser­vice Michael Hip­well says it’s an excit­ing oppor­tu­ni­ty for his team, which will be expand­ing to pro­vide this service.

“We are cur­rent­ly recruit­ing, and the posi­tions will require high lev­el ana­lyt­i­cal skills, as each patient will have thou­sands of genet­ic vari­ants detect­ed and we need to report on the few that are rel­e­vant to the case,” he says.

Mr Hip­well says the pro­gram is a glimpse into the future of can­cer treat­ment options.

“This type of com­pre­hen­sive genom­ic tumour pro­fil­ing is prob­a­bly going to be the way can­cer treat­ments are planned in the future, par­tic­u­lar­ly as oncol­o­gists become famil­iar with the addi­tion­al infor­ma­tion pro­vid­ed by these reports, giv­ing them a com­plete pic­ture of what’s hap­pen­ing genet­i­cal­ly in the tumour.”

His team has been work­ing for the past 12 months devel­op­ing the new diag­nos­tic assay, required for the research project.

“The assay we’re using for the com­pre­hen­sive tumour pro­fil­ing inter­ro­gates more than 500 genes in the tumour’s DNA to iden­ti­fy vari­a­tions or muta­tions in these genes that could be respon­si­ble for the patient’s can­cer,” Mr Hip­well explains.

“We’re also look­ing at the RNA of the tumour for a sub­set of the 500+ genes to iden­ti­fy any fusion events or gene ampli­fi­ca­tions that could cause the cancer.”

“We gen­er­ate a report which is then sent to the study coor­di­na­tors to inves­ti­gate if there are any rel­e­vant clin­i­cal tri­als in which the patient can be enrolled. That infor­ma­tion is then passed onto their treat­ing oncologist.”

NSWHP’s Act­ing Chief Exec­u­tive Prof Rob Lin­de­man said the PrOSPeCT project will allow the organ­i­sa­tion to build on its already com­pre­hen­sive genom­ic pro­fil­ing capability.

“Pro­vid­ing ser­vices for PrOSPeCT will build vital capac­i­ty, estab­lish our organ­i­sa­tion as a leader in the pro­vi­sion of ser­vices for diag­nos­tic and can­cer research and ulti­mate­ly ben­e­fit the peo­ple of NSW,” he said.

“Genomics diag­nos­tic ser­vices and genomics research rep­re­sent areas of strate­gic sig­nif­i­cance for NSW Health Pathology.”

The land­mark nation­al pro­gram is led by Omi­co, a gov­ern­ment-backed, not-for-prof­it nation­al net­work of Australia’s lead­ing can­cer research insti­tu­tions and hospitals.

The $185 mil­lion PrOSPeCT project is joint­ly fund­ed by the Fed­er­al and NSW gov­ern­ments, as well as pri­vate enterprise.

 

Michael Hipwell 4 EDIT
Michael Hip­well, Senior Hos­pi­tal Sci­en­tist for NSWHP’s Statewide Genomics Sequenc­ing Service

Meet Monu – Paediatric Pathology Collector – Hunter region

Let’s learn more about Monu. Official title – Phlebotomist (adults and children) Pathology Collector.

 

How long have you worked with NSWHP? 

Four­teen years in New­cas­tle, John Hunter Hos­pi­tal. I start­ed my pathol­o­gy career with a pri­vate pathol­o­gy provider for three or four years. There, I could­n’t go any fur­ther work­ing with chil­dren as I had lim­it­ed expo­sure with young patients. I always want­ed to work with babies and kids, so I moved to pub­lic pathol­o­gy for more pae­di­atric experience. 

 

What is different between paediatric and adult collections?

It’s very dif­fer­ent. With adult patients, you can talk to them and make sure they under­stand what you are there to do. If they say no, that’s it; you respect their deci­sion. But with kids, it takes work. I talk to the par­ents or car­ers and explain it to them to gain con­sent. Most of the time, their doc­tor has already explained it to them before we get there. The child may not under­stand or be able to talk, so you need to put them at ease in oth­er ways and encour­age the child to relax.  Pae­di­atric col­lec­tions are not always easy – but it is unbe­liev­ably reward­ing to know you are help­ing care for that child.  It might take more than one attempt some­times. You need to be mind­ful that there could be oth­er things going on for that fam­i­ly. Fam­i­lies are often upset and can be under­stand­ably emo­tion­al, and you need to take time and not rush your time with them. This role is always chal­leng­ing and I still learn new things every day, but that’s why I enjoy it. I see lots of chil­dren with intel­lec­tu­al or phys­i­cal dis­abil­i­ties who have dif­fer­ent needs. We use a dif­fer­ent approach and often need two col­lec­tors to sup­port these patients. We always try to col­lect blood on the first attempt to avoid the child get­ting too uncom­fort­able. Before see­ing the patient, I have to know the envi­ron­ment I’m walk­ing into. Every sit­u­a­tion is unique, and every patient and their expe­ri­ence is indi­vid­ual. They may be upset or anx­ious. As pro­fes­sion­als, we con­stant­ly assess the risk and the envi­ron­ment we are going into.  

 

What characteristics or personality do you need to do your job well?

Well, you have to be a very calm per­son. You need a lot of patience when you work with chil­dren. But, not just the chil­dren, the par­ents too. I try to put myself in their shoes and think how I’d feel if it were my child. I step into that space with­out fuss and give qui­et assurance.

 

What is the hardest thing about being a collector?

When I see kids and their par­ents suf­fer­ing and not get­ting bet­ter, it’s so hard to deal with that. It’s tough to see that every day, and of course, it takes a toll on you too. You wish peo­ple did­n’t have to go through that. 

 

How do you switch off at the end of the day?

I learnt how to do it. One of my teach­ers told me, ‘You walk in the door in the morn­ing, hang up your coat, and you’re at work – it’s work time’. When I walk out and put on my coat, that’s my sig­nal; I don’t take any­thing home or let any­thing affect my family.

 

Would you recommend your job to others considering pathology collection?

Yes, I’d def­i­nite­ly rec­om­mend it. It’s a very fam­i­ly-friend­ly job you can shape around your lifestyle. You can work shifts and choose ear­ly or lat­er shifts depend­ing on what works with your com­mit­ments. It works for my fam­i­ly. I start­ed by com­plet­ing my Cer­tifi­cate III in Pathol­o­gy Collection.

 

What makes you come to work every day?

It’s the love of team­work; we work with the oth­er girls as a team. I enjoy being around lots of dif­fer­ent peo­ple and fam­i­lies. I pre­fer not to be in one spot all day, and the ward rounds give me vari­ety plus I main­ly work with chil­dren, which I love. I see the tini­est of bubs. I am pas­sion­ate about shar­ing my expe­ri­ence work­ing with chil­dren. I men­tor new pae­di­atric col­lec­tors and help them devel­op their skill sets.  

 

What’s the best advice you’ve ever been given?

Work­ing with pae­di­atric health­care teams is like a big fam­i­ly where you know every­one and they all know you. The nurs­ing staff, the doc­tors, etc. We are a tight-knit mul­ti­dis­ci­pli­nary team. Work­ing as a team – that’s the most cru­cial piece of advice I ever got. Your team is your fam­i­ly, and you sup­port each oth­er every day – nev­er for­get that.

 

Outside of work, what brings you joy?

I have three kids of my own. They’re big kids now, though. My baby is 18, so not much of a baby any­more. I’m in a choir, a church choir as a singer. I’m not very good, but I enjoy it. I also arrange flow­ers for friends and fam­i­ly.   

 

If you hadn’t started in pathology, what do you think you’d be doing now?

Before pathol­o­gy, I worked in the men­tal health sec­tor with peo­ple with demen­tia for 16 years. Still car­ing for peo­ple and it worked well for my fam­i­ly and lifestyle because I could do night shifts while my kids were young. It was flex­i­ble and worked for us. When they start­ed school, I decid­ed to make the change, but I think I’d be doing some­thing like that, still in health and well­be­ing.  

 

Are you inter­est­ed in becom­ing a pathol­o­gy col­lec­tor? Find all our oppor­tu­ni­ties in our careers sec­tion.

New online research application portal – eResearchWithUs

NSW Health Pathology is making it easier to apply for our research services with a new eResearchWithUs digital portal.

“This inno­v­a­tive, user-friend­ly dig­i­tal plat­form is a sig­nif­i­cant step for­ward in how we sup­port researchers,” says Dr Shaun Roman, Asso­ciate Direc­tor of NSW Health Pathology.

“This new dig­i­tal por­tal not only stream­lines the appli­ca­tion process but also rein­forces our com­mit­ment to advanc­ing sci­en­tif­ic knowl­edge and ulti­mate­ly improv­ing the health and well-being of the com­mu­ni­ty in part­ner­ship with the broad­er research indus­try,” Dr Roman said.

The por­tal allows researchers to apply for access to a wide range of essen­tial bio-spec­i­mens, such as tis­sue, blood, cells, urine, DNA/RNA, or pro­tein, as well as var­i­ous research ser­vices like sam­ple col­lec­tion and pathol­o­gy or foren­sic test­ing, as well as data only requests.

To ensure opti­mal ser­vice deliv­ery, local Research Coor­di­na­tors will thor­ough­ly review each appli­ca­tion. They will care­ful­ly assess the research pro­jec­t’s fea­si­bil­i­ty and offer appli­cants a tai­lored quote and research agree­ment if the lab has capac­i­ty to pro­vide the service.

“We want to be able to pro­vide you with an appli­ca­tion form that only asks you for the infor­ma­tion that is rel­e­vant to your research request,” Bente Talseth-Palmer, NSW Health Pathol­o­gy’s Research Strat­e­gy Lead, said, high­light­ing the por­tal’s user-friend­ly design.

The eRe­search­With­Us por­tal uses smart log­ic that min­imis­es requests for addi­tion­al infor­ma­tion, effec­tive­ly pre­vent­ing unnec­es­sary delays in the research approval process.

“It means few­er fol­low-up ques­tions and requests for more doc­u­ments, pre­vent­ing unnec­es­sary delays, so we deliv­er a bet­ter ser­vice to researchers,” says Kar­la Jerez, who is one of NSW Health Pathol­o­gy’s ded­i­cat­ed Research Coordinators.

NSW Health Pathol­o­gy aspires to be at the fore­front of trans­la­tion­al research, where sci­en­tif­ic dis­cov­er­ies can swift­ly make their way from the lab­o­ra­to­ry to ben­e­fit the broad­er com­mu­ni­ty. By pro­vid­ing researchers with eas­i­er access to their exten­sive research ser­vices through eRe­search­With­Us, we are fos­ter­ing an envi­ron­ment for col­lab­o­ra­tion and innovation.

Try eRe­search­With­Us today.

Got a question?

Vis­it our research sec­tion for more infor­ma­tion. Con­nect with our NSWHP Research Office to dis­cuss poten­tial research col­lab­o­ra­tions. You can also watch our eRe­search­With­Us overview video.

Meet Hayley – experienced pathology collector

Hayley Byatt has been with NSW Health Pathology for 5 years, but working in pathology for more than 20 years.

I’m a “Phle­botomist”, though no one calls us that nowa­days   – I think it sounds like “Flow­ery Bot­tom”. We’re called Pathol­o­gy Collectors.

It’s fun­ny, I’m a real sook when I have my blood tak­en. If you wave my blood in front of me, I’ll faint on you. But I can look at yours, till the cows come home. So I know what it’s like to sit in the chair.  If I can help some­body get through a blood test today, by learn­ing a few tricks that will also help them con­quer their fears for future vis­it too. That’s me doing my job prop­er­ly. By pay­ing it for­ward, if you will.

I start­ed in the pri­vate sec­tor and moved to pub­lic pathol­o­gy. I’ve been doing this longer than some of my col­leagues have been walk­ing the plan­et. Gosh, it’s prob­a­bly been a quar­ter of a cen­tu­ry now.

 

Work­ing across the region

I’m based in Kempsey, but I work across the region. I could be in a hos­pi­tal on the wards or col­lect­ing in the out­pa­tients at our Port Mac­quar­ie Light­house Beach or Lake Innes col­lec­tion cen­tres, or vis­it­ing patients in their homes.

 

The right job feels like home

I moved to pub­lic pathol­o­gy for a change of scene and liked the idea of cama­raderie and being part of a close-knit team. On my first day, two of the col­lec­tors I used to work with gave me the biggest hug, I’ll nev­er for­get. I instant­ly thought, ‘I’ve done the right thing, you know.’ I just knew I was home.

My Kempsey team feels like a sec­ond fam­i­ly and we look out for each oth­er. We’re like puz­zle pieces – we all bring some­thing dif­fer­ent and com­ple­ment each oth­er. Peo­ple appre­ci­ate what we do, espe­cial­ly in a rur­al com­mu­ni­ty where they trav­el con­sid­er­able dis­tances just to see you.

 

Key traits of a pathol­o­gy collector

To be a col­lec­tor, you need to have patience, kind­ness, resilience, and a lot of empa­thy. The key is to treat peo­ple how you’d like to be treat­ed. Imag­ine if that was your mum, or sis­ter, or grand­moth­er. Then you can’t go wrong.

 

I encour­age oth­ers to start a career in pathology

It’s nice to see new staff – watch­ing them grow is love­ly. Now more than ever, we must be human and kind to each oth­er. Some days can be tax­ing, but oth­ers can be so unbe­liev­ably reward­ing. Covid has put many things into per­spec­tive. At the end of a long or dif­fi­cult day, I like to get back to nature. Whether it’s sit­ting under a tree or feel­ing the wind on your face. Some­times you just need to take your shoes off to ground your­self. Be it in the dirt, the grass, the mud or the rocks. It sim­ply reminds you it’s an enor­mous world and we’re just a tiny part of it.

I see a lot of peo­ple with can­cer. They’ve got enough going on. Every day is a strug­gle just to get up and be part of the world; they’re so brave. By lis­ten­ing, chat­ting and hav­ing a gig­gle, whilst hav­ing a blood test, it can often make a dif­fi­cult part of their jour­ney just that lit­tle bit easier.

 

Anoth­er thing I do to unwind is a bit of ‘trea­sure hunt­ing’ at op shops or antique stores. It helps me decom­press. At my local it does­n’t mat­ter what sort of day you’ve had. They know your name. They’ll smile at you and say hel­lo. This helps restore your faith in human nature. Bar­gain or not, I go home to my fam­i­ly refreshed.

 

My jour­ney to pathology

I grew up on a wheat farm in the coun­try and am lucky enough to have trav­elled the world. Fun­ni­ly enough, I found my hus­band back where I start­ed in my home­town. We moved to Port Mac­quar­ie for his work. I attend­ed a nurs­ing con­fer­ence and as fate would have it, I com­plet­ed my Assis­tant in Nurs­ing and trained on the job. I think of myself as an amal­ga­ma­tion of skills, amassed from all those fan­tas­tic nurs­es, and mid­wives I used to work with all those years ago.

 

I took some time off to have my son. When he was school-age, I decid­ed to get some qual­i­fi­ca­tions to hit the ground run­ning. I returned to work with a Cer­tifi­cate III in Pathol­o­gy Col­lec­tion. It was my first time away from my hus­band and son. I stayed onsite in the nurs­es’ quar­ters on cam­pus for about a month for the inten­sive course. I expect­ed to leave with a piece of paper and refreshed skills, but I also came away with life­long friends.

So, it just nat­u­ral­ly pro­gressed from there.

 

If I had­n’t start­ed in the health sec­tor, I’d be a retired jet fight­er pilot or dri­ving one of those mas­sive Ton­ka trucks in the mines.

 

Find all our oppor­tu­ni­ties in our careers sec­tion.

It’s warming up and mozzies are coming. Here’s how to mosquito-proof your backyard

The weather is warming up and that means more time in the backyard. It also means more mosquitoes.

Here are five ways you can mos­qui­to-proof your back­yard that don’t rely on spray­ing insec­ti­cides.

1. Get rid of water

Mos­qui­toes need water to com­plete their life cycles. They need blood – but water and warmth are just as important.

Get­ting rid of water around your back­yard will go a long way to keep­ing mos­qui­toes away. Water trapped in blocked roof gut­ters, drains and tar­pau­lin cov­er­ing boats and trail­ers can be a great home for mosquitoes.

Mos­qui­toes can exploit the tini­est of water sources too. It may just be the upturned lid of a dis­card­ed plas­tic drink bot­tle. If it traps water, mos­qui­toes will find it and lay eggs in it.

Flush out your bird bath once a week to dis­rupt the mosquito’s life cycle.

If you have a pond, installing a foun­tain will dis­cour­age mos­qui­toes. If you can’t keep water clean and cir­cu­lat­ing, con­sid­er fill­ing it with sand and grav­el to cre­ate an inter­est­ing gar­den bed for suc­cu­lents or oth­er plants.

Mos­qui­toes will avoid clean and chlo­ri­nat­ed swim­ming pools but will quick­ly move into “green pools”. If you’re not using your pool, con­sid­er con­vert­ing it to a “pond” so that fish can help keep mos­qui­to num­bers down.

2. Screen up – windows, doors and rainwater tanks

If you can’t get rid of per­ma­nent water, at least stop mos­qui­toes get­ting to it (or you).

Ensure rain­wa­ter and sep­tic tanks have screens to stop mos­qui­toes entering.

Screen win­dows and doors to stop mos­qui­toes enter­ing the home. There are plen­ty of flex­i­ble screen­ing options for win­dows, doors and balconies.

If you live in a mos­qui­to-prone area, cre­at­ing a screened out­door area (such as a per­go­la, court­yard, or bal­cony) will give you the oppor­tu­ni­ty to spend time out­doors with­out being has­sled by mozzies.

Mosquitoes on a window screen
Screen­ing win­dows and doors keeps mos­qui­toes out.

3. Choose your garden plants carefully

Some plants con­tain essen­tial oils and oth­er chem­i­cals that, when extract­ed and con­cen­trat­ed, pro­vide pro­tec­tion against bit­ing mos­qui­toes. But there isn’t a lot of evi­dence that the whole plant will keep mos­qui­toes away from your garden.

Some types of plants are even mar­ket­ed as “mozzie block­ers” or “mos­qui­to repelling”. But there isn’t any evi­dence of effec­tive­ness. In fact, some of these plants, such as melaleu­cas, also hap­pen to be asso­ci­at­ed with hot spots of mos­qui­to breed­ing in coastal Australia.

The plants to avoid around the home are those that help mos­qui­toes breed, such as bromeli­ads, which trap water.

An outdoor pot plant with water in the base tray.
Water pro­vides oppor­tu­ni­ties for mos­qui­toes to breed.

4. Encourage the animals that eat mosquitoes

Mos­qui­toes are food for a range of ani­mals includ­ing birds, bats, fish, frogs, lizards, insects, spi­ders and drag­on­flies. But don’t expect them to eat enough to keep all mos­qui­toes away.

Bats are often pro­mot­ed as a good “bio­log­i­cal con­trol” options but stud­ies have shown mos­qui­toes are more like­ly to be a snack food for small bats, not an irre­sistible sta­ple of their diet.

For gar­den ponds, frogs will eat a few adult mos­qui­toes but tad­poles of Aus­tralian frogs gen­er­al­ly don’t eat many mos­qui­to “wrig­glers”.

Aus­tralian native fish will read­i­ly eat mos­qui­toes and may be use­ful for back­yard ponds.

But not all fish are good. While “mos­qui­tofish” (aka “plague min­now”) is dis­trib­uted over­seas to assist in mos­qui­to con­trol, it’s a dis­as­ter for local wildlife and, along with oth­er exot­ic fish species, should not be released into local waterways.

Health­i­er habi­tats pro­mote few­er mos­qui­toes so the best thing you can do is cre­ate habi­tats for the ani­mals that eat mosquitoes.

5. Avoid traps and other gadgets

There are lots of devices pur­port­ed to catch, kill, or repel mos­qui­toes from your gar­den. Some may catch a mos­qui­to or two but they’re not very effec­tive in knock­ing out big numbers.

“Bug zap­pers” with bright lights will col­lect lots of fly­ing insects. It’s just that mos­qui­toes make up a very small pro­por­tion of collections.

Elec­tro­cut­ing devices, again, don’t seem to attract a lot of mosquitoes.

Devices that emit high fre­quen­cy sounds won’t help either.

The best devices are typ­i­cal­ly those that are bait­ed with car­bon diox­ide. These are a main­stay of state and ter­ri­to­ry mos­qui­to and arbovirus sur­veil­lance pro­grams. For a mos­qui­to, the C0₂ tricks them into think­ing the trap is a warm-blood­ed ani­mal. The only prob­lem is these can be expen­sive to run and don’t seem quite as effec­tive for mos­qui­to con­trol unless used in large num­bers.

Yes, you’ll still need repellent

Per­haps the best way to avoid mos­qui­to bites is to pick an insect repel­lent rec­om­mend­ed by health author­i­ties and apply it to ensure all exposed areas of skin are cov­ered. These prod­ucts and safe, afford­able and effective.The Conversation

Cameron Webb, Clin­i­cal Asso­ciate Pro­fes­sor and Prin­ci­pal Hos­pi­tal Sci­en­tist, NSW Health Pathology.

This arti­cle is repub­lished from The Con­ver­sa­tion under a Cre­ative Com­mons license. Read the orig­i­nal arti­cle.

Helping to manage haemophilia and other rare blood disorders

Haemophilia is a rare, inherited bleeding disorder where the blood doesn’t clot properly due to a lack of blood-clotting proteins. Our experts help treat these disorders and help patients to live a safe and healthy life.

Kent Chap­man is NSW Health Pathology’s senior hos­pi­tal sci­en­tist in charge of haemosta­sis or coag­u­la­tion at Newcastle’s John Hunter Hospital.

“For those not famil­iar with it, that’s all the bleed­ing and clot­ting stuff,” he explains.

He says blood dis­or­ders often cap­ture people’s atten­tion, par­tic­u­lar­ly haemophil­ia, because it is so rare and can be very dangerous.

“It is par­tic­u­lar­ly rare, affect­ing about 1 in about 6 to 10,000 males and less than 1 in 300,000 females,” he says.

“New­cas­tle is the only haemophil­ia cen­tre out­side of Syd­ney, so we cov­er a large area of NSW, look­ing after patients from here to Tweed Heads and as far west as you can go.

“We help to man­age about 70 chil­dren and about 400 adults with bleed­ing disorders.

“They range in sever­i­ty from those with very mild cas­es, who we only treat on demand, to those who require prod­uct or fac­tor VIII replace­ment every day, so they don’t have cat­a­stroph­ic bleeds.”

There are two major types of haemophilia:

• Haemophil­ia A is the most com­mon form and is caused by hav­ing reduced lev­els of clot­ting fac­tor VIII (eight).

• Haemophil­ia B, also known as Christ­mas Dis­ease, is caused by hav­ing reduced lev­els of clot­ting fac­tor IX (nine). The dis­ease was named after Stephen Christ­mas, who was the first per­son diag­nosed with the con­di­tion in 1952.

A gloved hand holds a test tube with the label 'Factor VIII test'.
Reduced lev­els of clot­ting fac­tor VIII are the cause of Haemophil­ia A.

The ‘Royal Disease’

Haemophil­ia has also been called a ‘roy­al dis­ease’. This is because the haemophil­ia gene was passed from Queen Vic­to­ria (haemophil­ia B car­ri­er), who became Queen of Eng­land in 1837, to the rul­ing fam­i­lies of Rus­sia, Spain and Germany.

Mr Chap­man says the type most peo­ple have heard of is haemophil­ia A.

“The good news is the treat­ment for that is quite amaz­ing, it’s come a long way in the last few years.”

He says a new prod­uct that has only become avail­able in Aus­tralia in the last cou­ple of years means patients don’t have to inject fac­tor VIII every day, but only once every week or two.

The injec­tion is also sub­cu­ta­neous, rather than intra­venous, which has made an enor­mous dif­fer­ence to the lives of many patients.

“It means if they’re on this prod­uct, they’ll have the same sort of life expectan­cy that you or I would have.

“Obvi­ous­ly they still have to be mind­ful of play­ing con­tact sports and all those types of things, but they have a much bet­ter qual­i­ty of life, which is great.”

But Mr Chap­man admits the improve­ment in haemophil­ia A treat­ment has made things slight­ly more com­pli­cat­ed for his laboratory.

“Try­ing to mon­i­tor these dif­fer­ent prod­ucts in the lab can become more challenging.

“We’ve had to use dif­fer­ent tests to be able to mon­i­tor these new ther­a­pies, and the new ther­a­pies get in the way of the test­ing for the way we used to do it.

“It’s made our work more com­pli­cat­ed, but it’s excit­ing because it’s much bet­ter for peo­ple liv­ing with haemophilia.”

Other blood disorders

Mr Chap­man has a par­tic­u­lar inter­est in the clot­ting side of blood dis­or­ders and has spent time work­ing on a group of dis­or­ders called throm­bot­ic microangiopathies.

“We estab­lished test­ing for a par­tic­u­lar­ly rare and fatal dis­ease here over 10 years ago called throm­bot­ic throm­bo­cy­tope­nia pur­pu­ra,” he explains.

“It’s a par­tic­u­lar­ly hor­ri­ble dis­ease where you basi­cal­ly start hav­ing blood clots from head to toe, par­tic­u­lar­ly in the small blood vessels.

“If not detect­ed ear­ly, you have a very high chance of dying with­in a cou­ple of days of diagnosis.

“But with the appro­pri­ate diag­no­sis and treat­ment 95% of patients are okay.

“The treat­ment is quite inten­sive and involves plas­ma exchange, which is basi­cal­ly suck­ing all the patient’s plas­ma out and replac­ing it with more plas­ma, and that can take weeks until the patient goes into remission.”

Mr Chap­man says he has been par­tic­u­lar­ly for­tu­nate to be work­ing in the field of haemosta­sis, with tal­ent­ed col­leagues and men­tors, such as NSW Health Pathology’s Dr Emmanuel Faval­oro (West­mead) and Geof­frey Ker­shaw (Roy­al Prince Alfred Hos­pi­tal, Camperdown).

“There are not too many peo­ple who get to do this type of work, so I’m very grate­ful to have end­ed up here,” he says.

“It was a bit of a fluke that I end­ed up in pathol­o­gy to be hon­est. My moth­er knew some­one who worked in a path lab, she told me to get a hair­cut and helped get me the job.

“Twen­ty-some­thing years lat­er, here I am!”

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