when each of us was born our parents played genetic roulette when my wife and
played genetic roulette when my wife and
played genetic roulette when my wife and I had our two boys we played genetic
I had our two boys we played genetic
I had our two boys we played genetic roulette
roulette
roulette and when any of you in the audience have
and when any of you in the audience have
and when any of you in the audience have children in the future
children in the future
children in the future you too will play genetic roulette
you too will play genetic roulette
you too will play genetic roulette unless the Health System changes so what
unless the Health System changes so what
unless the Health System changes so what do I mean when I say genetic roulette
do I mean when I say genetic roulette
do I mean when I say genetic roulette well one of the two major forms of
well one of the two major forms of
well one of the two major forms of genetic or inherited diseases is
genetic or inherited diseases is
genetic or inherited diseases is recessive disease and in recessive
recessive disease and in recessive
recessive disease and in recessive disease you have to inherit two bad
disease you have to inherit two bad
disease you have to inherit two bad copies of the same gene one bad copy
copies of the same gene one bad copy
copies of the same gene one bad copy from your mom and one bad copy from your
from your mom and one bad copy from your
from your mom and one bad copy from your dad and then you have the disease your
dad and then you have the disease your
dad and then you have the disease your mum and dad only have one bad copy of
mum and dad only have one bad copy of
mum and dad only have one bad copy of the gene so they’re called carriers and
the gene so they’re called carriers and
the gene so they’re called carriers and they are unaffected so in recessive
they are unaffected so in recessive
they are unaffected so in recessive human disease two unaffected people have
human disease two unaffected people have
human disease two unaffected people have an affected child the recessive disease
an affected child the recessive disease
an affected child the recessive disease that’s usually talked about in schools
that’s usually talked about in schools
that’s usually talked about in schools is cystic fibrosis so a lot of you may
is cystic fibrosis so a lot of you may
is cystic fibrosis so a lot of you may have heard about that but there are
have heard about that but there are
have heard about that but there are hundreds of recessive diseases that we
hundreds of recessive diseases that we
hundreds of recessive diseases that we humans can have and many of them have a
humans can have and many of them have a
humans can have and many of them have a much more severe effect on the child
much more severe effect on the child
much more severe effect on the child than cystic fibrosis one of these is
than cystic fibrosis one of these is
than cystic fibrosis one of these is called spinal muscular atrophy in spinal
called spinal muscular atrophy in spinal
called spinal muscular atrophy in spinal muscular atrophy the nerves that make
muscular atrophy the nerves that make
muscular atrophy the nerves that make our muscles move die and disappear so an
our muscles move die and disappear so an
our muscles move die and disappear so an affected child has great difficulty in
affected child has great difficulty in
affected child has great difficulty in actually moving the most severe form of
actually moving the most severe form of
actually moving the most severe form of spinal muscular atrophy are babies born
spinal muscular atrophy are babies born
spinal muscular atrophy are babies born almost incapable of moving now the
almost incapable of moving now the
almost incapable of moving now the carrier frequency for spinal muscular
carrier frequency for spinal muscular
carrier frequency for spinal muscular atrophy is 1 in 40 people so that means
atrophy is 1 in 40 people so that means
atrophy is 1 in 40 people so that means that in this room
that in this room
that in this room right now it’s highly likely that three
right now it’s highly likely that three
right now it’s highly likely that three of us are carriers of spinal muscular
of us are carriers of spinal muscular
of us are carriers of spinal muscular atrophy and if two of those carriers get
atrophy and if two of those carriers get
atrophy and if two of those carriers get together because they fancy each other
together because they fancy each other
together because they fancy each other their students at UWA and that sort of
their students at UWA and that sort of
their students at UWA and that sort of thing happens then they have a one in
thing happens then they have a one in
thing happens then they have a one in four chance of having a child with
four chance of having a child with
four chance of having a child with spinal muscular atrophy now what happens
spinal muscular atrophy now what happens
spinal muscular atrophy now what happens to a couple to a family when we have a
to a couple to a family when we have a
to a couple to a family when we have a child with one of these severe genetic
child with one of these severe genetic
child with one of these severe genetic disorders so to illustrate that for you
disorders so to illustrate that for you
disorders so to illustrate that for you I want to try and take us all back in
I want to try and take us all back in
I want to try and take us all back in history to early 1995 now now this is
history to early 1995 now now this is
history to early 1995 now now this is what I want some audience participation
what I want some audience participation
what I want some audience participation all of those of you who weren’t born in
all of those of you who weren’t born in
all of those of you who weren’t born in 1995 can you put your hands up farming
1995 can you put your hands up farming
1995 can you put your hands up farming there’s no need to be shy path leads so
there’s no need to be shy path leads so
there’s no need to be shy path leads so if you weren’t born in 1995 it’s really
if you weren’t born in 1995 it’s really
if you weren’t born in 1995 it’s really hard to think back to 1995
but but to try and help you with this
but but to try and help you with this 1995 was before Facebook it was before
1995 was before Facebook it was before
1995 was before Facebook it was before Twitter it was before snapchat it was
Twitter it was before snapchat it was
Twitter it was before snapchat it was before social media how did we survive
so you’re talking about moments that
so you’re talking about moments that change our lives
change our lives
change our lives so I’m sitting in my office early 1995
so I’m sitting in my office early 1995
so I’m sitting in my office early 1995 the gene for a spinal muscular atrophy
the gene for a spinal muscular atrophy
the gene for a spinal muscular atrophy had not been phoned then the telephone
had not been phoned then the telephone
had not been phoned then the telephone calls at the other end of the line is
calls at the other end of the line is
calls at the other end of the line is one of the West Australian mothers who’d
one of the West Australian mothers who’d
one of the West Australian mothers who’d had a child died from spinal muscular
had a child died from spinal muscular
had a child died from spinal muscular atrophy and she said to me Nigel
atrophy and she said to me Nigel
atrophy and she said to me Nigel we hear our gene has been found now
we hear our gene has been found now
we hear our gene has been found now finding genes finding disease genes is
finding genes finding disease genes is
finding genes finding disease genes is what I do for a living we still do it on
what I do for a living we still do it on
what I do for a living we still do it on the seventh floor of this building
the seventh floor of this building
the seventh floor of this building I had heard nothing from the science
I had heard nothing from the science
I had heard nothing from the science science community but she was right a
science community but she was right a
science community but she was right a few weeks later the disease gene that’s
few weeks later the disease gene that’s
few weeks later the disease gene that’s mutated in spinal muscular atrophy was
mutated in spinal muscular atrophy was
mutated in spinal muscular atrophy was published by a group in France so
published by a group in France so
published by a group in France so somehow free social media the news had
somehow free social media the news had
somehow free social media the news had got from France to the families in
got from France to the families in
got from France to the families in Western Australia that were at risk and
Western Australia that were at risk and
Western Australia that were at risk and I’ve always felt that somehow the news
I’ve always felt that somehow the news
I’ve always felt that somehow the news had got from the families that have
had got from the families that have
had got from the families that have participated in the study in France it
participated in the study in France it
participated in the study in France it had got ran the world to here now if
had got ran the world to here now if
had got ran the world to here now if you’re a couple who’ve had one child
you’re a couple who’ve had one child
you’re a couple who’ve had one child with a severe genetic disease what you
with a severe genetic disease what you
with a severe genetic disease what you most want is not to have another
most want is not to have another
most want is not to have another child with that disease and we can’t
child with that disease and we can’t
child with that disease and we can’t help couples with that until we know the
help couples with that until we know the
help couples with that until we know the precise gene that’s the problem in that
precise gene that’s the problem in that
precise gene that’s the problem in that family so the gene for spinal muscular
family so the gene for spinal muscular
family so the gene for spinal muscular actually have been discovered to help
actually have been discovered to help
actually have been discovered to help couples avoid having another affected
couples avoid having another affected
couples avoid having another affected child you do prenatal diagnosis you test
child you do prenatal diagnosis you test
child you do prenatal diagnosis you test the unborn child and you do that at 12
the unborn child and you do that at 12
the unborn child and you do that at 12 weeks and basically it felt like 12
weeks and basically it felt like 12
weeks and basically it felt like 12 weeks after the gene was published in
weeks after the gene was published in
weeks after the gene was published in France we were doing pre mental
France we were doing pre mental
France we were doing pre mental diagnosis for the families in Western
diagnosis for the families in Western
diagnosis for the families in Western Australia basically they had a put off
Australia basically they had a put off
Australia basically they had a put off having any further children until their
having any further children until their
having any further children until their gene had been found and we could help
gene had been found and we could help
gene had been found and we could help them avoid having further affected kids
them avoid having further affected kids
them avoid having further affected kids so spinal muscular atrophy is just one
so spinal muscular atrophy is just one
so spinal muscular atrophy is just one of these severe recessive disorders
of these severe recessive disorders
of these severe recessive disorders there’s hundreds of them and the numbers
there’s hundreds of them and the numbers
there’s hundreds of them and the numbers are worked out in the mid 1950s by one
are worked out in the mid 1950s by one
are worked out in the mid 1950s by one of the godfathers of Human Genetics
of the godfathers of Human Genetics
of the godfathers of Human Genetics Newton Morton each single one of us is a
Newton Morton each single one of us is a
Newton Morton each single one of us is a carrier of three to five lethal
carrier of three to five lethal
carrier of three to five lethal recessive diseases so that means each of
recessive diseases so that means each of
recessive diseases so that means each of us is a carrier of a disease which if we
us is a carrier of a disease which if we
us is a carrier of a disease which if we get together with someone who’s carrying
get together with someone who’s carrying
get together with someone who’s carrying one of those three to five we will have
one of those three to five we will have
one of those three to five we will have a child who will not live long enough to
a child who will not live long enough to
a child who will not live long enough to have children of their own and that’s
have children of their own and that’s
have children of their own and that’s why I say whenever any of us have
why I say whenever any of us have
why I say whenever any of us have children we play genetic roulette
children we play genetic roulette
children we play genetic roulette because basically most of us have no
because basically most of us have no
because basically most of us have no idea which three to five lethal
idea which three to five lethal
idea which three to five lethal recessive diseases we are carrying so
recessive diseases we are carrying so
recessive diseases we are carrying so what can we do about this
well one of the things we can try and do
well one of the things we can try and do is we can try and find the carriers of
is we can try and find the carriers of
is we can try and find the carriers of these recessive diseases before they
these recessive diseases before they
these recessive diseases before they find out their carriers but having an
find out their carriers but having an
find out their carriers but having an effective child and finding carriers is
effective child and finding carriers is
effective child and finding carriers is called pre conception carrier screening
called pre conception carrier screening
called pre conception carrier screening and in Australia we are way behind
and in Australia we are way behind
and in Australia we are way behind world’s best practice in preconception
world’s best practice in preconception
world’s best practice in preconception carrier screening for certain specific
carrier screening for certain specific
carrier screening for certain specific communities that have high incidence of
communities that have high incidence of
communities that have high incidence of recessive diseases preconception
recessive diseases preconception
recessive diseases preconception carriers screening programs have been in
carriers screening programs have been in
carriers screening programs have been in place for decades and what always
place for decades and what always
place for decades and what always happens is that the incidence of those
happens is that the incidence of those
happens is that the incidence of those recessive diseases goes down hugely so
recessive diseases goes down hugely so
recessive diseases goes down hugely so diseases in the Ashkenazi community
diseases in the Ashkenazi community
diseases in the Ashkenazi community fellows Semien Mediterranean countries
fellows Semien Mediterranean countries
fellows Semien Mediterranean countries the incidence has dropped way down the
the incidence has dropped way down the
the incidence has dropped way down the most comprehensive an amazing carrier
most comprehensive an amazing carrier
most comprehensive an amazing carrier screening program in the world is in
screening program in the world is in
screening program in the world is in Israel
Israel
Israel it’s government-funded is freely
it’s government-funded is freely
it’s government-funded is freely available to everybody they screen for
available to everybody they screen for
available to everybody they screen for over 90 different recessive diseases
over 90 different recessive diseases
over 90 different recessive diseases they’re screening 60 to 70 thousand
they’re screening 60 to 70 thousand
they’re screening 60 to 70 thousand people a year who wish to be screened in
people a year who wish to be screened in
people a year who wish to be screened in Australia we don’t have that so there
Australia we don’t have that so there
Australia we don’t have that so there are a number of us around this chair who
are a number of us around this chair who
are a number of us around this chair who are interested in preconception carrier
are interested in preconception carrier
are interested in preconception carrier screening and what we could do here in
screening and what we could do here in
screening and what we could do here in this country and last year we thought
this country and last year we thought
this country and last year we thought we’d hold a conference here in Western
we’d hold a conference here in Western
we’d hold a conference here in Western Australia but we decided we instead we’d
Australia but we decided we instead we’d
Australia but we decided we instead we’d have a satellite meeting of a meeting in
have a satellite meeting of a meeting in
have a satellite meeting of a meeting in Europe because it’s quite expensive to
Europe because it’s quite expensive to
Europe because it’s quite expensive to bring people all the way to Westminster
bring people all the way to Westminster
bring people all the way to Westminster and being Scottish we like to do things
and being Scottish we like to do things
and being Scottish we like to do things on the cheap Helen
on the cheap Helen
on the cheap Helen so we decided the thing to do was to
so we decided the thing to do was to
so we decided the thing to do was to hold the satellite meaning of a meeting
hold the satellite meaning of a meeting
hold the satellite meaning of a meeting in Europe where everyone is going to be
in Europe where everyone is going to be
in Europe where everyone is going to be anyway so we held this meeting in
anyway so we held this meeting in
anyway so we held this meeting in Glasgow and scope works well it’s my
Glasgow and scope works well it’s my
Glasgow and scope works well it’s my accent it fine
and we brought together people from
and we brought together people from North America from Europe and my
North America from Europe and my
North America from Europe and my favorite guy the guy in Israel would put
favorite guy the guy in Israel would put
favorite guy the guy in Israel would put their programme together we locked
their programme together we locked
their programme together we locked ourselves in a room for a day and we
ourselves in a room for a day and we
ourselves in a room for a day and we talked and I was amazed that at the end
talked and I was amazed that at the end
talked and I was amazed that at the end of the day we had a consensus and the
of the day we had a consensus and the
of the day we had a consensus and the consensus that we came to was that for
consensus that we came to was that for
consensus that we came to was that for recessive diseases that were lethal by
recessive diseases that were lethal by
recessive diseases that were lethal by age 4 people felt there was no ethical
age 4 people felt there was no ethical
age 4 people felt there was no ethical or disability rights impediment booting
or disability rights impediment booting
or disability rights impediment booting such a program in place so what I would
such a program in place so what I would
such a program in place so what I would like to see in the future in Australia
like to see in the future in Australia
like to see in the future in Australia is preconception of carries being
is preconception of carries being
is preconception of carries being available to everybody the people that
available to everybody the people that
available to everybody the people that will benefit the most probably are those
will benefit the most probably are those
will benefit the most probably are those of you who put up your hands to say that
of you who put up your hands to say that
of you who put up your hands to say that you weren’t born in 1995 it’s a bit late
you weren’t born in 1995 it’s a bit late
you weren’t born in 1995 it’s a bit late for my wife and life so my vision for
for my wife and life so my vision for
for my wife and life so my vision for the future is that no couple in
the future is that no couple in
the future is that no couple in Australia should have a child with a
Australia should have a child with a
Australia should have a child with a severe recessive disease unless they
severe recessive disease unless they
severe recessive disease unless they want to thank you very much
”
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