Genomics in the Kidney Clinic Translation, Implementation and - - PowerPoint PPT Presentation

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genomics in the kidney clinic
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Genomics in the Kidney Clinic Translation, Implementation and - - PowerPoint PPT Presentation

Jan 21, 2023 384 likes •610 views

Genomics in the Kidney Clinic Translation, Implementation and Challenges Dr Andrew Mallett Nephrologist, RBWH & MNHHS National Director, KidGen AGHA Renal Genetics Flagship Why Kidneys? Frequency, Outcomes and the Nephron 1 in 8 Australian

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Genomics in the Kidney Clinic

Translation, Implementation and Challenges

Dr Andrew Mallett Nephrologist, RBWH & MNHHS National Director, KidGen AGHA Renal Genetics Flagship

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Why Kidneys?

Frequency, Outcomes and the Nephron 1 in 8 Australian Adults have a marker of Kidney Disease

Genetic or Inheritable Kidney Disease

1 in 10 Adults

with renal disease

>250 Implicated genes, multiple disease spectra 1 in 2 Children with renal disease Understanding remains significantly incomplete

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Mission Statement

The KidGen Collaborative is an Australian-based consortium of clinicians, genetic counsellors and researchers focused on providing a definitive diagnosis to patients with inherited forms of kidney disease within a multidisciplinary clinic.

Within a three year period standard care for patients with inherited kidney disease will include access to a multi-disciplinary clinic, with genomic testing and genetic counselling for the family where appropriate

  • 1. Provide equitable access to genomic technology within clinical care for Australian families with kidney disease.
  • 2. Evaluate whether multidisciplinary clinics which include a nephrologist, clinical geneticist and genetic

counsellor improve the outcome, patient experience and standard of care for patients with inherited kidney disease and their families

  • 3. Expand knowledge of the causes of inherited kidney disease through gene validation and disease modelling.
  • 4. Improve understanding of inherited kidney disease in the hope of developing new treatments.

Aims Goal

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Where are we?

Nationwide – clinical, diagnostic, translational, research

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What do we do?

Bed to Bench… and back again

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What do we do?

Bed to Bench… and back again

Clinic & Diagnostic Genomic Evaluation Project Family Research Genomics Project Functional Genomics Project Gene Negative GBM Disorders Project Nephrotic Syndrome Project Diagnostic Genomics Services Education & Outreach Initiatives HiDDEn Project C3GN Project

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Progress

AGHA Flagship - Evaluating Renal Genetics MDT Clinics

Clinic & Diagnostic Genomic Evaluation Project

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Clinic & Diagnostic Genomic Evaluation Project

Progress

AGHA Flagship - Evaluating Renal Genetics MDT Clinics

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Progress

LOST - Language and Other Socio-economic barriers to

Translation of genomic medicine to the clinic

LOST Project

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Progress

FOUND - FOllowing Up New renal genetic Diagnoses

FOUND Project

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Progress

Reporting Genetic Diagnostic Outcomes

Diagnostic Genomics Services

Mallett et al (2017), In Press N = 135 families 10 panels, 207 genes

43% Secured Genetic Dx (Pathogenic Variant/s)

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Progress

Identifying Rare & Novel Genetic Causes

Family Research Genomics Project

49 Families Proposed and Accepted for Recruitment

  • 4 Gene Negative Alport Syndrome/TBMN Sub Study
  • 32 Families Sequenced & Analyzed
  • 13 via WES
  • 28 via WGS
  • 1 via WES & WGS
  • 12 have a candidate variant/s in a known gene
  • 6 genes are very rare (<10 reported families)
  • 3 genes were reported <24months prior
  • 1 genes was reported within 6months
  • Reanalysis ongoing
  • New analysis elements being incorporated
  • 6th monthly re-review

“Mutations in mitochondrial DNA causing TIKD” Connor et al (2017)

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Progress

Modelling Disease & Validating Variants

Functional Genomics Project

disease modelling

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Progress

HIDDEN Flagship - wHole genome Investigation to

iDentify unDEtected Nephropathies

HIDDEN Flagship

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Progress

HIDDEN Flagship - wHole genome Investigation to

iDentify unDEtected Nephropathies

HIDDEN Flagship

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Progress

HIDDEN Flagship - wHole genome Investigation to

iDentify unDEtected Nephropathies

HIDDEN Flagship

  • 400
  • 200

200 400

Change from previous year

500 1000 1500 2000 2500 1985 1990 1995 2000 2005 2010 2015 New patients Change from previous year

Australia

New Patients and Change

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Progress

An Annual National Event

Education & Outreach Initiatives

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Intersections

Collaborating with others

Program 2 Program 3 Program 1 Patient & Consumer Groups Program 4 External Partners

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Where to from here?

Progress through collaboration, evidence and understanding …….. and realism

KIDNEYS

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Where to from here?

Progress through collaboration, evidence and understanding …….. and realism

Within a three year period standard care for patients with inherited kidney disease will include access to a multi-disciplinary clinic, with genomic testing and genetic counselling for the family where appropriate

Goal

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Genomics in the Kidney Clinic

Translation, Implementation and Challenges

Dr Andrew Mallett Nephrologist, RBWH & MNHHS National Director, KidGen AGHA Renal Genetics Flagship