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

Genetics Matters

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)

Genetics MattersDos and Don’ts

Don’t:

Overshare your DNA

(and caution your patients about this)

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

Do:

Take opportunities to upskill

Genetics MattersDos and Don’ts

www.genomicseducation.hee.nhs.uk

GP Genomics resources

Don’t:

Use outdated terms:

Genetics MattersDos and Don’ts

FLK

Happy Puppet

Mongoloid

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Use outdated terms: ?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