Position Statement
Subject:
Approval Date:
Review Date:
Review By:
Number:
Non-Invasive Prenatal Testing
March 2015
March 2019
Genetics Advisory Committee
1/2015
__________________________________________________________________________
Background
Non-invasive prenatal testing (NIPT) is an advanced screening investigation to identify foetuses
with aneuploidy of chromosomes 13, 18, and 21. Some test providers also report on the detection
of sex chromosome aneuploidy and a few selected microdeletions. The test performance is
substantially better than conventional first trimester screening, but the test should not be
regarded as a diagnostic test. The result of the investigation should be interpreted in the light of
other clinical and laboratory data regarding the woman's pregnancy.
There is growing interest in NIPT from specialist clinicians, general practitioners, allied health
professionals, and the general public. The College welcomes this increasing awareness of the
potential for a sophisticated genetic test to be used widely in the management of pregnancies.
However, the nature of NIPT and the significant clinical decision-making which might flow from
the test result require careful consideration regarding the qualifications and accountability of
those requesting the investigation. NIPT is a relatively new investigation, with a developing scope
of application and a number of complexities. The routine use of this investigation may lead to
other allied health professionals finding it less important to inform women about the choices they
may be faced with, thus presenting some risks to patient autonomy and informed choice.
RCPA position statement and recommendations
1) Pathology tests are generally requested by a medical practitioner who is accountable for
the selection of the test, for the clinical interpretation, and for medical decisions arising
from the test. In relation to genetic tests specifically, the NPAAC standard for molecular
genetic laboratories [1] notes that "S1.1 The Laboratory must provide medical nucleic acid
testing only in the context of a clinical service provided by a medical practitioner”.
2) The College recognises that a woman's antenatal care may be managed in a team
environment in which midwives or genetic counsellors work under the direct supervision of
a medical practitioner who is accountable for the care of the patient. In this context, it is
reasonable for a registered midwife or genetic counsellor to make a request for NIPT on
behalf of the clinician who is accountable for the care of the patient. This is in keeping with
the standard prescribed by NPAAC as the supervising clinician is still responsible for the
patient's management.
3) There is provision by AHPRA and Medicare for an independent practising midwife to
manage a woman's pregnancy as an autonomous practitioner. The midwife must have,
among other requirements, a formal established relationship with an obstetrician. This
relationship does not require the obstetrician to supervise the care provided to each
patient of the midwife. The independent practising midwife can order from a specified list
of pathology, imaging, and pharmaceutical items. Prenatal maternal serum screening is
one of the items included on the list.
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4) The list of services that can be ordered is presented in terms of eligibility for a Medicare
rebate, and is not explicitly related to the midwife's accredited training or experience.
Nonetheless, the list provides an indication of the anticipated scope of the midwife's
clinical practice. In relation to NIPT, requests from the medical practitioner responsible for
the care of the patient are in keeping with the standard prescribed by NPAAC and with the
model of professional accountability that underpins medical practice in general.
5) This provision does not extend to independent practising midwives, genetic counsellors,
or other allied health professionals in independent practice where an associated clinician
is not necessarily accountable for the care of the individual patient. Independent midwives
and genetic counsellors are encouraged to work with an associated medical practitioner to
develop a mechanism whereby a medical practitioner accountable for the patient's care
requests or supervises requests for NIPT.
References:
NPAAC standards: Requirements for medical testing of human nucleic acids
http://www.health.gov.au/internet/main/publishing.nsf/Content/E688964F88F4FD20CA257BF000
1B739D/$File/V0.25%20NAD%20Human%20Genetics.pdf
Joint ESHG/ASHG position statement with recommendations regarding responsible innovation in
prenatal screening with NIPT
http://www.nature.com/ejhg/journal/vaop/ncurrent/full/ejhg201557a.html
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