Poma Genetic Counselling

NZ genetic counsellors:

  • Northern Regional Genetic Service - Funding for Genetic Counsellors/Genetic associates
  • Central Regional Genetic Service - 4 genetic counsellors
  • Southern Regional Genetic Service - 2 genetic counsellors

Who benefits from Genetic Counselling?

  • Women of advanced maternal age - over 35
  • Consanguinity - cousins, etc.
  • Families with a history of a disorder - Autosomal dominant, autosomal recessive, X-linked, Mitotic disorders, chromosomal rearrangement
  • Exposure to teratogens during pregnancy
    • Teratogen: substance or environmental factors that leads to birth defects
  • An abnormal maternal serum screen/result
  • Nuchal translucency result
  • Ethnic background
  • History of birth defects, hearing and visual impairment, etc.
  • History of intellectual disability
  • History of miscarriages

Cases seen by Genetic Councellors

  • Family planning or pregnant mothers
    • Recurrent miscarriages
    • Consanguinity
    • Maternal age
    • Ethnic populations at risk
    • Known diagnosis in family and/or previous child with a genetic disorder
    • Family history of potential concern
      • cancer
      • cardiac disease
    • Ultrasound abnormalities

Cases seen by Clinical Geneticist

  • Paediatric
    • Dysmorphology
    • Severe delay or neurological handicap
    • Consultation for clarification of suspended diagnosis
  • Adult
    • Neurogenetics

Definition of Genetic Counselling

  • A communication process
  • Dealing with human problems associated with occurrence or risk of a genetic disorder in a family
  • involves an attempt by one (or more) appropriately trained individuals to help the person or family

- comprehend the medical facts involving diagnosis, course of the disorder and management available
- appreciate how heredity contributes to the disorder and the recurrence of risk for particular relatives
- understand the options for dealing with the recurrence risk: another pregnancy, PGD, adoption, egg/sperm donor, childlessness
- choose the course of action that seems appropriate relative to their risks, family goals and act in accordance
- make the best possible adjustments to the disorder and/or to the recurrence risk

Why Genetic Counselling?

  • information on the disease
  • psychological issues
  • management issues
  • practical issues
  • implications for the wider family
  • insurance implications
  • limitations of testing
  • communication with testing labs, investigate best detection rate, turnaround time, price, etc.

Counselling Phases

  • Gathering Information
    • Pedigree
    • clarify any misconceptions
    • discover client fears/problems/needs/expectations
  • Diagnosis
    • discuss symptoms
    • explain medical facts, test results, prognosis
    • clarify misconceptions
  • Risk Assessment
    • genetics/etiology of the disease
    • clarify risks
    • give recurrence risks
    • understand clients burden
  • Giving Information
    • resources, support groups, websites, possible options, etc
  • Psychological Assessment
    • coping strategies
    • guilt and emotional issues
    • family support
  • Decision making
    • reproductive options
    • alternatives
    • clarify context and implications
  • Ongoing client support

Goals of Genetic Counselling

  • elicit understanding, beliefs, assumptions and experiences unique to every client
  • build upon and connect information to specific genetic circumstances of client and their goals
  • counsellor to listen for clients invitations (overt or subtle) to explore paths of his/her choosing

Skills of the Interviewing Counsellor

  • clarify and interpret clients statements
  • explore perceived consequences of choices
  • uncover assumptions and misunderstandings
  • ascertain the clients perception of what happened during visit
  • assess readiness of client to participate
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