L2 Genomics into Practice Flashcards Preview

Human and Medical Genetics > L2 Genomics into Practice > Flashcards

Flashcards in L2 Genomics into Practice Deck (19)
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1
Q

Genetic sequencing

A

sanger sequencing of a single gene

2
Q

Genomic sequencing

A

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)

3
Q

Moving to clinical use

A

widespread adoption of new technology takes 15 years

only half of evidence based practices reach widespread clinical use

4
Q

Potential of genomic sequencing

A
  1. better diagnosis
  2. improved treatment and care
  3. prediction and prevention
5
Q

Barriers

A

see onenote

6
Q

Wide-spread change is needed

A
  1. clinical service design projects, “Flagships”
  2. workforce development
  3. shared information management system, “GenoVic”
7
Q

Clinical service design projects

A

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

8
Q

Is genomics an improvement?

A

see one note for impact on individuals

Impact of genomic sequencing compared to usual care

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

9
Q

RWES

A

Real world evidence solutions

rWES improves clinical utility and cost saving

10
Q

GenoVic

A

see onenote slides

Optimal use of data
- responding to ethical challenges

Genovic
- shared system for clinical genomic data

11
Q

Additional Findings

A

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

12
Q

No clinician consensus on additional findings

A

see onenote

13
Q

A different approach to secondary finding analysis

A

see onenote slides

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

14
Q

Newborn screening hearing program

A

see onenote

primary deafness and additional childhood onset genes offered concurrently

15
Q

Data sharing

A

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

16
Q

Workforce

A

see onenote slides

17
Q

Functional genomics

A

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

18
Q

National genomics health policy framework

A

see onenote

19
Q

Challenge 1 and 2

A
  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