Tiny Giants

Dr Candice Feben-Small, FRACP, FCMG(SA)

Clinical Geneticist

Candice is a clinical geneticist and is passionate about caring for people and families who have, or are at risk for, genetic disorders. She completed her undergraduate medical degree in South Africa and then specialised in the field of Medical Genetics though the College of Medical Geneticists of South Africa. She has subsequently also been recognised as a fellow of the Royal Australasian College of Physicians in the Child Health and Paediatric Branch. She holds a Masters of Medicine degree (through the University of the Witwatersrand, South Africa) and a Diploma in Child Health (through the College of Paediatricians of South Africa). She practised both in state and private healthcare in South Africa for over 10 years. Her family relocated to New Zealand in 2020 and she has since held the position of specialist Clinical Geneticist at Starship Hospital in Auckland, with full vocational registration with the Medical Council of New Zealand.
A clinical geneticist is a medically trained specialist doctor who cares for people and families who are affected by or may be at risk for a heritable, often rare, condition, considered to be caused fully or partially by an underlying change to their genetic code. A genetic consultation usually involves gathering family history and constructing a pedigree (family tree), a thorough medical history, a clinical examination, a risk assessment (considering whether the personal or family presentation is in keeping with a genetic condition or not) and advice and education on the considered diagnosis.

Some consultations result in the offer of genetic tests to confirm a clinical diagnosis or to search for a diagnosis if one is not clinically apparent. If genetic testing is offered, there would be additional discussion about the type of testing you have been offered, the possible test results, the test limitations and benefits and how the results will be disclosed. Some genetic tests can be performed locally in New Zealand, while others will need to be sent overseas. Genetic consultations often follow several other medical consultations, particularly in complex cases where a formal diagnosis has not been reached. The consultation itself can be emotionally difficult and you may learn about potential medical or developmental implications for other members of the family, not only the person who has been referred. A first consultation usually takes 60 minutes and a follow up between 30 and 45 minutes. You will receive a copy of the Clinic Report that is sent to your referring doctor after the consultation.

A consultation with a clinical geneticist may be of benefit to you if you, your child or first degree relative have one or more of the following:

1. Severe developmental delay or formally diagnosed intellectual disability of a moderate or severe type
2. Severe autism spectrum disorder with at least mild developmental delay / intellectual disability or an atypical presentation
3. Severe epilepsy disorders (so called “syndromic epilepsies”)
4. Babies identified in utero or born with one or more congenital malformations (heart, brain, kidney, spine, craniofacial. limb etc)
5. A family history of a known genetic disorder
6. Connective tissue disease (including a personal or family history of thoracic aortic aneurysms, severe scoliosis, hollow organ rupture (bladder, uterus), severe and unusual skin scarring or poor wound healing)
7. Congenital deafness or blindness
8. Congenital or unusual dermatological features, such as multiple birth marks, unusual skin lesions, severe skin disorders which may also involve the hair, nails and teeth

Candice accepts referrals from general practitioners, paediatricians, paediatric, and in some cases, adult sub specialists and obstetricians. Your referral will be pre screened and you will only be offered an appointment if it is likely a clinical genetic consultation will be of benefit to you. If your referral is declined, some advice will be provided to your referring doctor, or you may be referred to a genetic counsellor, who may be better placed to address your specific concerns.