How can you get genetic testing for glomerular diseases done in Singapore?

Who is eligible for RAPIDS project?

This project invites volunteers who are adults, adolescents and children with glomerular diseases suspected to be genetic in nature. There is no age limit.

 

Subjects will have to provide written consent to participate in this research project.

Where can you get tested?

Genetic testing for glomerular diseases is now available in Singapore through the RAPIDS Project.

RAPIDS stand for Renal Alliance for PrecIsion Diagnosis in Singapore. This project aims:

  1. To implement genetic testing for glomerular diseases in clinical practice in Singapore
  2. To study the cost-effectiveness of genetic testing in patients and families with glomerular diseases in Singapore. 

 

This project is funded by Precision Health Research, Singapore (PRECISE). It is a collaborative research effort involving:

 

Institutions Address
National University of Singapore  Department of Paediatrics

MD1, Tahir Foundation Building, Level 15,

12 Science Drive 2, Singapore 117549

Duke-NUS Medical School Programme in Health Services and Systems Research

8 College Road, Singapore 169857

Tan Tock Seng Hospital Department of Renal Medicine

11 Jalan Tan Tock Seng, Singapore 308433

Singapore General Hospital Renal Medicine

Outram Road, Singapore 169608

KK Women’s and Children’s Hospital Division of Paediatric Nephrology

Division of Genetics

100 Bukit Timah Rd, Singapore 229899

National University Hospital Division of Paediatric Nephrology

Division of Genetics

Division of Nephrology (adult)

5 Lower Kent Ridge Rd, Singapore 119074

 

What does RAPIDS Project involve?

Adults and children with glomerular diseases whom the doctors suspect the cause is genetic may be eligible. There is no age limit.

 

You will have to provide written consent to participate in this research project.

 

Individuals in this project will undergo all the steps involved in genetic testing

Figure 1: Flowchart of the research steps involved in RAPIDS project. The estimated time needed for each step is indicated in the bracket. 

 

  • A pre-test counselling session with the doctor or genetic counsellor to know about the risks, implications and costs of genetic testing
  • If you choose to proceed with genetic testing, a one-time blood or saliva collection will be required. 
  • The genetic test to be done in this project will be targeted gene panel sequencing involving about 100 kidney-specific genes. This test will be done at no cost to you, and will be done in a clinically accredited laboratory.  You can expect the results in 2-6 weeks.
  • The genetic test report will form part of your electronic medical records and be used by your doctors in the treatment of your kidney condition. 
  • A post-test genetic counselling session will be performed for the doctor to explain the results to you, followed by the subsequent plans. 

 

In some cases, family members may be invited as part of this project to undergo the simplified version of the genetic test in which only specific DNA change identified in the patient is tested. The genetic test will not involve other genes or other areas of the culprit gene. Family members will have to sign separate consent to enter into this project and will undergo the steps involved in genetic testing .

 

Patients or family members may decline genetic testing after genetic counselling, or withdraw consent at any time.

 

In addition to the usual steps in genetic testing, patients and family members who enter into RAPID project will complete some surveys. Medical and healthcare billing data will be collected from the electronic records by investigators as part of the research effort.

 

They may also be invited to participate in group discussions about their perspectives, attitudes and beliefs towards genetic testing. They may decline to participate in the group discussions and remain in the Project as participant.

 

What does RAPIDS Project not involve?

RAPIDS project will not include:

  • More complex or advanced genetic tests (e.g. whole exome sequencing or whole genome sequencing)
  • Consultation fees to new specialist doctors or new investigations (blood, urine or imaging test) that are recommended as part of clinical care 

 

How may you benefit from RAPIDS?

Identifying gene variants, if present, may be helpful to guide your doctor in prescribing the most appropriate treatment or follow-up, or performing focused screening of other organs in the body. If you need a kidney transplant in the future, knowledge of these gene variants will help the doctors to identify the most suitable donor, and also to prescribe a more suitable treatment regime before during and after transplant. You may find closure if a genetic diagnosis is made.

 

With your participation, you can facilitate this study which can guide policymakers in Singapore to make genetic testing more widely accessible in Singapore.

 

You do not need to pay for the genetic tests or genetic counselling for the purpose of this research study. 

 

There will be no monetary remuneration for your participation in most steps unless you are a participant in the focused group discussion where $50 (fifty dollar) will be reimbursed for your time. The doctors conducting this study do not receive any monetary remuneration.

 

How do you enter the RAPIDS project?

  • If you are already on active follow-up with a kidney doctor in Tan Tock Seng Hospital, Singapore General Hospital, KK Women’s and Children’s Hospital or National University Hospital, you may directly enquire about this project through your kidney doctor.
  • If not, you may email paenjl@nus.edu.sg for further enquiries. 

 

More information for doctors with a patient who may benefit from RAPIDS project

Doctors may email paenjl@nus.edu.sg for further enquiries.

 

Inclusion criteria for adult patients 

1) Persistent isolated glomerular haematuria without known causes  

2) Persistent A2 microalbuminuria/ proteinuria (+/- haematuria) without known causes 

3) Steroid resistant primary nephrotic syndrome 

  • Kidney biopsy has been performed and there are no secondary causes like lupus, vasculitis, infective causes.
  • No prior complete response to steroid therapy OR calcineurin inhibitors 

4) Suspected familial IgA nephropathy 

5) Chronic kidney disease Stage 3-5 of unknown cause

6) Rapid estimated glomerular filtration rate decline with no apparent cause (>5ml/min per year) 

 

Inclusion criteria for paediatric patients 

1) Persistent isolated glomerular haematuria (with or without A2 microalbuminuria) without known causes  

2) Persistent proteinuria (with or without haematuria) without known causes  

3) Steroid resistant primary nephrotic syndrome 

  • No prior complete response to steroid therapy 
  • Prior kidney biopsy is not necessary 

4) Suspected familial IgA nephropathy 

5) Chronic kidney disease Stage 3-5 of unknown cause

6) Rapid estimated glomerular filtration rate decline with no apparent cause (>5ml/min/1.73m2 per year)

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