L2 Genomics into Practice

Question 1

Genetic sequencing

Answer 1

sanger sequencing of a single gene

Question 2

Genomic sequencing

Answer 2

Panel - next gen seq of a defined set of genes

Whole exome - next gen seq of almost all exons (genes)

Whole genome - next gen seq of almost all exons (genes)

Question 3

Moving to clinical use

Answer 3

widespread adoption of new technology takes 15 years

only half of evidence based practices reach widespread clinical use

Question 4

Potential of genomic sequencing

Answer 4

1. better diagnosis
2. improved treatment and care
3. prediction and prevention

Question 5

Barriers

Answer 5

see onenote

Question 6

Wide-spread change is needed

Answer 6

1. clinical service design projects, “Flagships”
2. workforce development
3. shared information management system, “GenoVic”

Question 7

Clinical service design projects

Answer 7

see onenote slides

Impact and process evaluation

How testing should be provided in healthcare

designed to create evidence and change

design and establishment => operation => evaluation

Question 8

Is genomics an improvement?

Answer 8

see one note for impact on individuals

Impact of genomic sequencing compared to usual care

Impact: 5 times the diagnosis, 1/4 the cost

Question 9

RWES

Answer 9

Real world evidence solutions

rWES improves clinical utility and cost saving

Question 10

GenoVic

Answer 10

see onenote slides

Optimal use of data
- responding to ethical challenges

Genovic
- shared system for clinical genomic data

Question 11

Additional Findings

Answer 11

Incidental finding
- a potentially pathogenic variant found incidentally in analysis of genes known to cause a category of disease but not believed to be responsible for the patient’s condition

Additional/secondary finding
- a potentially pathogenic variant found after a deliberate analysis of pre-defined list of genes known to cause disease but unrelated to the patient’s condition

Question 12

No clinician consensus on additional findings

Answer 12

see onenote

Question 13

A different approach to secondary finding analysis

Answer 13

see onenote slides

additional analysis i.e. would you like further information?

Question 14

Newborn screening hearing program

Answer 14

see onenote

primary deafness and additional childhood onset genes offered concurrently

Question 15

Data sharing

Answer 15

see onenote slides

Clinical consent for data sharing

• no choice, anonymised data
• opt in, share re-identifiable data

patients with suspected hereditary conditions significantly more likely to be concerned about being identified

no preferred model of consent for research use

Question 16

Workforce

Answer 16

see onenote slides

Question 17

Functional genomics

Answer 17

to determine if and how a “variant of uncertain significant” affects function of the gene product

Question 18

National genomics health policy framework

Answer 18

see onenote

Question 19

Challenge 1 and 2

Answer 19

1. Change
   - transition from real world to routine world
   - dynamic and evolving technology
   - scaling up
2. work
   - not enough genetic counsellors, clinical bioinformaticians or medical scientists trained in genomic variant classification