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Kym Boyco( PhD, MD, FRCPC, FCCMG Clinical Gene*cist, Children’s Hospital of Eastern Ontario
Senior Scien*st, CHEO Research Ins*tute, Professor of Pediatrics, University of O@awa
Ontario’s Rare Disease Strategy
Diagnosis and Preven.on
Expert Care
CCMG guidelines: phenotype or family history suggests singe-‐gene cause muta*on unknown
Broad Indica>ons
Phenotype High degree of gene*c heterogeneity
Diagnos*c odyssey
Specific gene*c tests have failed to arrive at a diagnosis
Cost effec*veness Genome-‐wide sequencing is a more cost-‐effec*ve approach than available individual or gene panel tes*ng
Direct impact on clinical decision-‐making and care:
• Will likely preclude further invasive diagnos*c inves*ga*ons, follow-‐up, or screening that would be recommended in the absence of tes*ng;
• Provides specific and informed reproduc*ve decision making and family planning; or,
• Will enable iden*fica*on of at risk family members to iden*fy if they carry the causa*ve muta*on and facilitate early interven*on.
Medically Necessary:
A gene>c e>ology is the most likely explana>on:
• Moderate to severe developmental or func*onal impairment;
• Mul*system involvement;
• Progressive clinical course which cannot be explained by another cause; or,
• Differen*al diagnosis includes two or more condi*ons.
Indica>ons for Tes>ng
Exclusion Criteria: 1. The following clinical indica*ons are NOT
an indica*on for genome-‐wide sequencing: • Isolated mild intellectual disability or
LD; • Nonsyndromic au*sm; or, • Isolated neurobehavioural. • Isolated neuropsychiatric condi*ons
2. Pa*ent’s phenotype is highly specific to a known gene*c condi*on for which op*mized gene*c panel tes*ng exists.
3. Previous comprehensive panel tes*ng has been completed in the last 3 years.
WES of Family Members Sporadic presenta*on
• Trio
Consanguinity • Singleton
Recessive inheritance suspected • One affected individual and an unaffected parent; OR, • Two affected individuals
X-‐linked inheritance • Singleton with filtering for X-‐linked variants
Dominant inheritance • 2 most distantly related family members
Canada is the best place on earth to live with a rare disease.
Every child and family in Canada with RD receives a: } A *mely diagnosis } Op*mized care } Pa*ent and family empowerment