Nadia Preitner

I am a Registered Genetic Counsellor based at Southern Cross Hospital in Wellington & at CCDHB. I welcome referrals for individuals, couples & whānau who may not be eligible for publicly funded services and/ or those seeking a rapid service.

My role is to manage the entire genetic testing pathway-from taking family history & risk assessment, to pre- & post-test counselling, informed consent, ordering testing, providing advice post-test & making onward referrals where appropriate.

Areas of Expertise
1. Cancer Genetic testing
I offer germline genetic testing for patients with a personal or family history of cancer (BRCA1 / BRCA2 + other hereditary breast and ovarian cancer genes, Lynch syndrome, polyposis, etc.).
2. Cancer Risk Assessment
I provide risk assessments for individuals with a family history of breast, ovarian (CanRisk) and bowel cancer.  Risk assessment includes a clear summary of management recommendations to assist you in ongoing patient management.
3. Adult-Onset Neurodegenerative Conditions
Predictive testing in asymptomatic at-risk individuals for neurogenetic conditions (e.g. Huntingtons disease, C9orf72) requires adherence to international protocols to manage the complex psychosocial and ethical implications.
4. Reproductive Carrier Screening (Pre-Conception)
For couples planning a family who wish to understand their reproductive risks.
-   Carrier testing where there is a known family history of an autosomal recessive or X-linked condition (e.g. cystic fibrosis or Duchenne muscular dystrophy
-  Three-Condition Screening: Reproductive carrier screening for Cystic Fibrosis (CF), Spinal Muscular Atrophy (SMA), and Fragile X Syndrome (FXS).
-   Expanded Screening: Guidance and coordination for more comprehensive expanded carrier panels.
Result Management: In cases where a couple is identified as being high-risk, I provide counselling regarding reproductive options (including preimplantation genetic diagnosis and prenatal diagnostic options).

Information for Referring GPs
To ensure efficient triage & to maximize the value of the initial consultation, please include the following in your referral if available:
- Diagnosis of any affected family members, estimation of age at diagnosis, relationship to the patient.
- Details of any known genetic variants previously identified in the family (attaching the relative's laboratory report or a family information letter is very helpful).

Qualifications/Memberships
Registered Genetic Counsellor - Fellow of the Human Genetics Society of Australasia (FHGSA) Member, Australasian Society of Genetic Counsellors (ASGC)