Dr Kate Gibson - GP CME South/Sat_Plenary_1700_GibsonKate... · Dr Kate Gibson, Clinical...
Transcript of Dr Kate Gibson - GP CME South/Sat_Plenary_1700_GibsonKate... · Dr Kate Gibson, Clinical...
Dr Kate GibsonGenetic Health Service NZ
Children’s Specialist Centre
Christchurch Hospital
Christchurch
17:00 - 17:15 Genetics Matters
Genetics MattersGPCME South August 2018
Dr Kate Gibson, Clinical Geneticist/Paediatrician
Children’s Specialist Centre, Christchurch
GHSNZ, South Island Hub
Do:
Think about patients in terms of their families
Eg. Older children and adults with intellectual disability
1 in 17 of the population have a rare disease
• May be many years since investigated – massive changes in technology
• Diagnosis still important for patient and family
• May be new management guidelines
• Treatment possibilities
• Reproductive risk for siblings / extended family
Genetics MattersDos and Don’ts
A chromosomal tale
dup(14)(q11.2q11.2)
del(14)(q11.2q11.2)
ins(14)(q11.2q11.2)
• Severe intellectual disability• Autism• Dysmorphic• Karyotype normal (2003)• Age 14: absent uterus• aCGH = del(14)(q11.2q11.2)
• Short
• Moderate intellectual disability IQ 66
• Mild dysmorphism
• dup(14)(q11.2q11.2)
GoalRight patient, right test, right time, right interpretation
? does this “result” relate to this patient
? does it fit with phenotype – personal or
family history of breast / ovarian cancer
? If not – do we need to do anything
? who pays – clinician time and testing
? Insurance implications
? Screening
Don’t:
Use outdated terms: ? Dysmorphic
Lines I use:
• “Who do you think Fred looks like?”
• “Do you think there are any facial features that are different to the family?”
• “I think there are some facial features that are a bit different”
• NB: Rarely a rush
Genetics MattersDos and Don’ts
1. Don’t…..
….test these genes, please
Genetics MattersDos and Don’ts
MTHFR
HFEHigh Iron FE
Haemochromatosis
Methylenetetrahydrofolate reductase
The Royal College of Pathologists of Australasia considers that there is insufficient evidence of
benefit to recommend MTHFR testing at present. Although tests for MTHFR gene variants have
analytical validity, the clinical validity is uncertain and the clinical utility is unproven. Accordingly,
the College does not recommend MTHFR testing as a basis for medical decision-making
in patients who receive a normal, folate-fortified diet.
MTHFR
Reviewing whether MTHFR testing will be offered in the future
Do:Think about patients in terms of their families – and re-refer
Take opportunities to upskill in genomic medicine
Get excited about the promise of precision medicine
Don’t:Overshare your own or your patient’s DNA
Use outdated terms to describe dysmorphic children
Test HFE and MTHFR
Genetics MattersDos and Don’ts