Download Genomics in NBS: potential targets and benefits

Genomics in NBS:
potential targets and benefits
Dr Sue White
Clinical Geneticist
VCGS
Era of genomic medicine
• Genomic medicine: an emerging practice
of medicine that involves using genomic
data to better predict, diagnose, and treat
disease
• New technologies have driven advances in
genomic medicine in last 10 years and will
in the future
• Genomic sequencing now cheaper and
faster - $1000 genome
Improved health
Diagnosis
& prognosis
Amended from Clara Gaff, WEHI
Treatment
Risk
& prevention
What is genomics?
Exome vs genome sequencing
Role of NGS in clinical practice
Considerations: TMI!
• Much of variant data within exome or genome is uninterpretable
• Even with known disease gene, interpretation of a novel variant
can be difficult
• Just because we can, doesn’t mean we should
Key elements of conditions suitable for NBS
•
•
•
•
Well-defined
Severe
Treatable/actionable OR preventable
For which treatment is best started in the newborn period or early
childhood
• In best interests of child, and so conducted without explicit consent
from the individual
Genomic targets
• Replacing/augmenting biochemical screening for current conditions
• Adding new conditions
Childhood onset,
medically actionable
Adult onset,
medically actionable
Childhood onset,
non-medically
actionable
Adult onset,
Non-medically
actionable
What is an actionable condition?
Make haste slowly, considering:
• Purpose – targeted sequencing or targeted analysis
• Evidence - that condition is actionable, and that genomic sequencing
will be a sensitive and specific diagnostic test
• Costs
• Engagement
• Informing parents
• Educating professionals and public
Melbourne Genomics Health Alliance
• Evaluation project, to assess parents’ attitudes to genomic
sequencing at time of NBS and assess test feasibility in a group of
patients being offered genomic sequencing at time of diagnosis of
deafness
• Gene list is being defined, but likely to consist of genes within
‘childhood onset, medically actionable’ group of phenotypes
Acknowledgements
• Professor David Amor
• NEXUS project