Areas of Expertise - Genetics Consulting

Pre-conception counselling

Couples may have concerns about their risk for having a child with an inherited or congenital (present from birth) condition. The family and personal histories would be evaluated to determine the couple’s risk, and options for future pregnancies would be discussed, based on their personal circumstances.

Indications for genetic counselling.

a family member with a diagnosis
an older child who was born with a disorder
a history of teratogenic exposure
a history of multiple pregnancy losses (more than 3)
a family history of intellectual disability
a family history of stillbirth
consanguinity
advanced maternal age (over 35)

Pregnancy counselling

A risk assessment based on family and personal history will determine what the chance is that a foetus carries a genetic condition. Options for the pregnancy will be discussed, including whether a genetic test is indicated, and what the appropriate course of action would be if a genetic result showed an abnormality, based on the family’s needs.

Indications for genetic counselling.

an abnormal prenatal screen or ultrasound result
advanced maternal age
a family member with a diagnosis
an older child who was born with a disorder
a history of teratogenic exposure
a history of multiple pregnancy losses (more than 3)
a family history of intellectual disability
a family history of stillbirth
consanguinity

Paediatric genetic counselling

Genetic counsellors see families where a child has a confirmed clinical or genetic diagnosis of an inherited condition. The counsellor can arrange genetic testing, if it has not already been done, and discuss the risks to other family members and arrange testing where appropriate.

Adult genetic counselling

Genetic counsellors see adults with late onset conditions, or who are concerned about their risk of late onset conditions, often due to a family history. When we see an affected adult who has not yest been tested, we assess the risk of a genetic condition based on family and personal history, and discuss the implications of genetic testing and whether it would be an option for the individual.

neurology
mitochondrial disease
retinal and other eye conditions
cardiology
dermatology

Indications for genetic counselling

A diagnosis by a specialist of a suspected or known genetic condition
A family history of a known or suspected genetic condition

Cancers

Cancer is the most commonly seen condition by genetic counsellors. We assess the risk of carrying a mutation in a gene increasing the risk of developing cancer. This inlcudes the risk of a mutation in a BRCA gene or one of many other genes associated with an increased risk of cancer.

We discuss the implications of a pathogenic mutation and how this may change surveillance and treatment in future. When a mutation is found in a person who has not been affected by cancer, options for surveillance and, in some cases, prophylactic surgery, may be offered. Where a person is affected already, knowing that there is a genetic mutation can change patient management as risks are understood better. Surgical decisions are informed and tailored treatments are available in some cases.

Indications for genetic counselling

unusually early age of onset (under 50)
multiple primary cancers in an individual (including bilateral cancer
clustering of the same types of cancer in 2 or more close relatives ( siblings, parents, aunts and uncles, cousins, grandparents)
cancers occurring in multiple generations
rare tumours (ovarian cancer, male breast cancer, ocular melanoma, retinoblastoma, adrenocortical carcinoma, paraganglioma or pheochromocytoma)
uncommon tumour histology (mismatch repair deficient colorectal or endometrial cancer; medullary thyroid cancer)
Populations with known founder variants, e.g. Ashkenazi Jewish, Afrikaner, Northern Cape,