Renal Genetics Survey for nephrologists and advanced trainees
This survey has been developed to investigate nephrologists current genomic testing practices. Currently, there is very limited evidence in this area in nephrology, and it will be important to address as genomics becomes increasingly incorporated into clinical care.
This information will help the Australian Renal Genetics Flagships with delivering a model of practice that meets nephrologist preferences and will inform the development of future genomic medicine education and training activities for nephrologists
This survey aims to:
- Measure experience with genetic testing in clinical practice amongst nephrologists
- To assess nephrologists’ confidence, and preferences for models of practice, with whole exome or whole genome sequencing tests
- To examine current and future education and training needs in genomic medicine for nephrologists
- To evaluate barriers and facilitators to the uptake of genetics/genomics amongst nephrologists in Australia
The target audience for this survey is Australian Nephrologists and Nephrology advanced trainees. It doesn’t matter if you feel you don't know much about genomics, or don’t incorporate it into your practice at the moment; your opinions, views and experiences are valuable to us.
The survey will take around 5-10 minutes to complete and can be done on a mobile device. You can access the survey at any time until 30th September 2018 by clicking on this link:
https://redcap.mcri.edu.au/surveys/?s=LFDCY49MKM
NEWS
Monday 2nd July 2018
Australian Genomics Kidney Flagship study launching into national enrolment of participants.The Flagship, named ‘HIDDEN’, is using whole genome investigation to identify undetected nephropathies.
‘HIDDEN’ is one of two renal genomics studies led by Australia’s KidGen Collaborative and supported by Australian Genomics. The clinical flagship will from this month, begin the process of referral and recruitment of patients to its research study, providing whole genome sequencing to 200 adults and children with end-stage kidney disease of unknown cause.
End-stage kidney disease is a disease stage where a person’s kidneys no longer function sufficiently and potential treatment with life-sustaining renal replacement therapies, such as dialysis or a kidney transplant is necessary. End-stage kidney disease of ‘unknown cause’ describes those without a definitive clinical diagnosis for their kidney disease, despite an overwhelming excess burden of morbidity and mortality that these patients experience. For many of these patients, the traditional diagnostic avenues have been exhausted and this odyssey has an enormous impact on these individuals and their families.
“Unknown cause for those with end-stage kidney disease not only signals a patient has experienced a prolonged diagnostic journey to no avail, it also means that without a clinical diagnosis, options for treatment, or managing personal and familial genetic risk are really limited,” said A/Prof Andrew Mallett, National Director of the KidGen Collaborative, Royal Brisbane and Women’s nephrologist, and lead of the HIDDEN flagship. “We really have no genetic or genomic referral pathway for patients who fall into this ‘unknown’ category. We want to alter this course and open up options for improved clinical management for these patients.”
The KidGen Collaborative HIDDEN flagship will provide whole genome sequencing to eligible patients in an effort to reach a genetic diagnosis for their kidney disease. This study is one of only a few worldwide, sharing similar methods and partnerships with renal genomics studies in both England and New Zealand. These studies aim to break new ground in kidney disease diagnosis and add to an emerging evidence base on the effectiveness of genomic techniques in nephrology.
“Clinical sites, like ours here at the Royal Prince Alfred Hospital, will be taking referrals from treating clinicians via a nomination process, and then reviewing these via our national and expert flagship committee,” said Dr Amali Mallawaarachchi, nephrology specialist and clinical geneticist at Royal Prince Alfred Hospital, genomics researcher at Garvan Institute of Medical Research and co-lead of the HIDDEN flagship. “We then have multidisciplinary teams in place locally to establish if genome testing will be appropriate for each patient and then proceed with patient enrolment. This process will be mirrored across sites in Australia, with DNA samples being sent to Garvan here in NSW for testing.”
While the HIDDEN study aims to assess the diagnostic utility of whole-genome sequencing for end-stage kidney disease of unknown cause, it is also undertaking secondary evaluations of cost-effectiveness and implications for pharmacogenomics. The Flagship is also participating in an Australian Genomics pilot study offering research participants the opportunity to provide their consent, and manage their ongoing involvement in this research, via an online, personalised consent platform.
“This HIDDEN genomics study is really quite exciting for its potential to solve what has previously been unsolvable. The impact of kidney disease on individuals and families is profound, and we’re eager to see the outcomes of this study – not only in terms of the impact it has for those who are battling unexplained kidney disease, but the opportunity it presents to improve clinical practice in this area,” said Dr Lisa Murphy, CEO of Kidney Health Australia and partners of the KidGen Collaborative and HIDDEN study.
For information on HIDDEN’s participating clinical sites, please refer to www.kidgen.org.au. You can also view those involved in the KidGen collaborative and HIDDEN study on the KidGen website.
Kidney Health Australia offers information and support to both health professionals and the community on kidney health and disease. Connect with Kidney Health Australia at www.kidney.org.au.
The KidGen HIDDEN Renal Genetics Flagship is led by:
A/Prof Andrew Mallett
Royal Brisbane and Women’s Hospital
Dr Cathy Quinlan
The Royal Children’s Hospital
Dr Amali Mallawaarachchi
Royal Prince Alfred Hospital
Garvan Institute of Medical Research
Dr Cas Simons
Murdoch Children's Research Institute
A/Prof Zornitza Stark
Victorian Clinical Genetics Services & The Royal Children's Hospital
Dr Chirag Patel
Genetic Health Queensland
Story by
Merry Pearce
Communications Officer
Australian Genomics
www.australiangenomics.org.au
News - Thursday 1st February 2018
We are excited to announce that this morning the Australian Genomics Health Alliance launched four new projects including the KidGen Collaborative HIDDEN Renal Genetics project.
The KidGen Collaborative Director, Dr Andrew Mallett, is delighted to announce the commencement of this research. Together with the other principal investigators, Dr Cathy Quinlan, Dr Zornitza Stark, Dr Chirag Patel, Dr Amali Mallawaarachchi and Dr Cas Simons, and making use of our close collaboration with the diagnostic laboratories, Genome.One and the Victorian Clinical Genetics Services we hope to provide a clinical diagnosis for more patients with end-stage kidney disease of unknown cause. The ‘HIDDEN’ study builds upon the current research of the KidGen Collaborative and our partnership with Kidney Health Australia, to trial whether genomic testing approaches can improve the diagnosis and clinical management of patients with inherited kidney disease.
Here is what the Royal Brisbane and Women’s Hospital had to say about our new flagship project.
Answering questions behind unexplained end stage kidney disease
For the majority, the cause of their kidney disease is known but there are many battling through their disease without any real answers—only adding to the burden and stress that comes with chronic illness.
Royal Brisbane and Women’s Hospital (RBWH) Nephrologist Dr Andrew Mallett hopes to provide these answers through his HIDDEN flagship—one of four rare disease flagship projects announced by Australian Genomics on 1 February.
Dr Mallett has a particular interest in inherited kidney disease and nephrogenetics—the study of kidney diseases that are genetically caused and the care of patients affected by them—and hopes HIDDEN (wHole genome Investigation to iDentify unDEtected Nephropathies) will give his team and his patients the answers they’ve been looking for.
“End stage kidney disease means a patient’s kidneys no longer function properly and they may require treatment like dialysis or a kidney transplant,” Dr Mallett said.
“Unfortunately, my colleagues and I see many patients who don’t know why they have kidney disease. They’ve never had a definitive diagnosis despite our best efforts to identify the cause. And it’s extremely disheartening for them, their families and us as their clinicians.
“Our research will explore genomics, which is an emerging and exciting technology. It allows us to examine the coding of all of our genes, and the changes within them, so that we can understand potential genetic or inheritable causes for diseases.
“We’ll be working with patients with unexplained end stage kidney disease to see if genomics is the key to ‘unlock’ their kidney diagnosis, and help inform their clinical journey from diagnosis and treatment, through to long-term outcomes, and patient and family support.
“This is an exciting step forward for the care of our patients.”
The HIDDEN Flagship is the result of a partnership between the KidGen Collaborative (led nationally by Dr Mallett) and Australian Genomics, and is supported by the Queensland Conjoint Renal Genetics Service of which Metro North Hospital and Health Service’s Kidney Health Service and Genetic Health Queensland are collaborators.
“By partnering with clinicians and researchers, and with our patients, we are able to use genomics to lead initiatives like this and answer the remaining ‘big questions’ in science and healthcare.”
Another article from The University of Queensland - Institute for Molecular Bioscience
Flagship genetics project to uncover hidden figures in chronic kidney disease
and Kidney Health Australia
"HIDDEN" flagship project explores genomics
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Meeting Report The KidGen Renal Genetics Symposium, The KidGen Renal Genetics Symposium 6-8 December 2017 was an enormous success with over 100 attendees. A report of the meeting has been published Human Genomics and is available on-line Jayasinghe K, Quinlan C, Stark Z, Patel C, Sampson MG, Saleem M Mallett AJ and on behalf of the KidGen Collaborative Meeting Report of the 2017 KidGen Renal Genetics Symposium, Human Genomics 2018 12:5 https://humgenomics.biomedcentral.com/articles/10.1186/s40246-018-0137-7 |
For report and recording of Meet the Scientists - Patient Engagement Event see Meetings and Links page
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KidGen is an Australian-based collaborative consortium of clinicians, counsellors, scientists and researchers focused on providing a definitive diagnosis to patients with inherited forms of kidney disease. KidGen focuses on delivering clinical care for families with kidney disease. At KidGen, we care about kidneys, we care about kids with kidney disease, we care about the genes that are altered to cause these diseases and we care about the effects these may have on the generations to follow. Through KidGen, we are working to provide equitable access to genomic technology within clinical care for Australian families with kidney disease. At the same time, we are working to better understand these diseases in the hope of developing new treatments.
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