Friday, 20 February 2012
Lack of funding for additional tests leave parents in the dark
An urgent need for additional funding to carry out tests that will help parents better
understand the cause(s) of their babys’ death remains high on the medical agenda.
The current financial barriers preventing extensive foetal autopsies are inhibiting
pathologists from uncovering the causes of death and identifying any abnormal
conditions and/or genetic syndromes that may be present. These crucial findings
would also help detect the risks of any conditions in other family members.
According to Professor Yee Khong, President of the Royal College of Pathologists of
Australasia (RCPA), there are many reasons for the need for extensive foetal
autopsies.
“For example, it’s important to find out if a foetus has a congenital disorder of
glycosylation (CDG)1 because if it does, then we know there is a one in four chance
that future siblings will be being affected because it is a recessive gene disorder,”
says Professor Khong.
“The ability to differentiate if a foetus died from Skeletal Dysplasia or extreme
growth restriction is another example why extensive foetal autopsies are crucial.
This diagnosis would be impossible if extra testing is not carried out due to the lack
of ability to grow fibroblasts for molecular testing of the foetus’ DNA.”
A key impediment to undertaking extensive foetal autopsies is the high cost
involved. This, unfortunately, means that parents may sometimes never understand
the cause of their baby’s death.
“These additional tests are very expensive and with no financial assistance,
necessary additional testing following autopsies cannot take place, resulting in
medical practitioners being unable to provide parents with definitive reasons for
their baby’s death,” explains Professor Khong.
“There are cases where state-funded public hospitals absorb the costs, while some
cases are sent overseas, especially where the costs of such tests are cheaper to
perform. In many cases, however, extensive foetal autopsies are not undertaken.”
From a Medicare point of view the barrier funding for these procedures is because a
foetus does not conform to the Medicare definition of a ‘person’. Medicare only
provides funding for people that are living and doesn’t recognise a foetus or stillborn
child as a ‘person.’ This is something that needs serious consideration.
Foetal autopsies enable the prevention, management and future diagnosis of fatal or
severely debilitating genetic diseases in children of ‘at-risk’ carriers identified in an
extended family pedigree.
According to Mr Michael Ralston, a member of the Genetics Advisory Committee at
the RCPA, a genetic test can uncover ornithine transcarbamylase deficiency (OTC)2,
which is a potentially fatal disease of the foetus or infant, who may die in the new
born period if undiagnosed.
“If this diagnosis is confirmed, then there are medically sound reasons to extend the
test to other family members in order to ensure that future babies would have a
better chance of being diagnosed prenatally, thereby allowing an immediate
neonatal management program to be implemented.”
Mr Ralston says a current government departmental review is in place to investigate
the development of a national approach to genetic services, with increased equity of
access being one of the major benefits. Genetic testing items currently represent just
over one percent of pathology Medicare schedule rebates. In the meantime, the
benefits that accrue from additional tests arising from foetal autopsies will continue
to be lost along with the baby unless a rational and equitable way of funding these
tests is initiated.
1.
CDG is a group of inherited disorders that affects a process called glycosylation. This process helps build
glycoproteins required for normal growth and function of all tissues and organs. It is now thought to be an
under-diagnosed disease.
2.
OTC is an X-linked recessive disorder caused by a number of different mutations in the OTC gene. It affects
the body's ability to get rid of ammonia which is a toxic breakdown product of the body's use of protein.
Ammonia then accumulates in the blood and travels to the various organs of the body.
Royal College of Pathologists of Australasia
The RCPA is the leading organisation representing pathologists in Australasia. Its
mission is to train and support pathologists and to improve the use of pathology
testing to achieve better healthcare.
For more information please visit:
http://www.rcpa.edu.au/Publications
ENDS
Media enquiries:
Dr Debra Graves
CEO – RCPA
0417 218 528
or
Jade Heng
S2i Communications
0450 533 431