1
00:00:04,640 --> 00:00:08,640
Greetings and welcome to EHA 
Unplugged, the official podcast 

2
00:00:08,640 --> 00:00:12,480
channel of the European 
Hematology Association EHA. 

3
00:00:12,920 --> 00:00:16,239
I'm Sarah de Fleeker and I'm 
here in London with David Rees, 

4
00:00:16,239 --> 00:00:19,120
part of our Education Committee 
at the European Hematology 

5
00:00:19,120 --> 00:00:20,960
Association. 
David, could you please 

6
00:00:20,960 --> 00:00:22,800
introduce yourself? 
Hi, I'm David Rees. 

7
00:00:22,800 --> 00:00:25,600
I'm a pediatric hematologist at 
King's Scottish Hospital and I 

8
00:00:25,600 --> 00:00:29,320
look after children with sickle 
cell disease and have been 

9
00:00:29,320 --> 00:00:32,400
involved in screening and 
managing them for quite a long 

10
00:00:32,400 --> 00:00:34,840
time and it was involved in 
setting up the screening 

11
00:00:34,840 --> 00:00:38,160
programme in the UK. 
And we are here to talk about 

12
00:00:38,160 --> 00:00:41,360
screening today, David. 
So could you maybe give us a 

13
00:00:41,360 --> 00:00:44,800
feeling of what you would 
consider standard of care for or

14
00:00:44,800 --> 00:00:48,240
gold standard for for screening 
in sickle cell disease? 

15
00:00:48,720 --> 00:00:52,880
Well there's two main points 
where screening's done. 1 is in,

16
00:00:52,880 --> 00:00:56,360
in most countries is antenatally
when, when someone's pregnant 

17
00:00:56,360 --> 00:01:00,520
and you want to identify whether
that the baby, the foetus the 

18
00:01:00,520 --> 00:01:03,640
woman is carrying could be at 
risk of having sickle cell 

19
00:01:03,640 --> 00:01:07,240
disease and that's called 
antenatal screening. 

20
00:01:07,240 --> 00:01:10,720
And then the other screening is 
testing babies when they've been

21
00:01:10,720 --> 00:01:14,440
born, neonatal screening. 
And that again is an important 

22
00:01:15,200 --> 00:01:17,920
factor to try and identify 
children with sickle cell 

23
00:01:17,920 --> 00:01:20,440
disease so that they can be 
treated and managed before they 

24
00:01:20,440 --> 00:01:24,800
present with complications or 
even or even die in the in the 

25
00:01:24,800 --> 00:01:26,960
days before screening. 
Could you take us through the 

26
00:01:26,960 --> 00:01:30,160
process, perhaps first of 
antenatal screening? 

27
00:01:30,480 --> 00:01:34,280
Well, antenatal screening, it is
complicated and it varies a lot 

28
00:01:34,280 --> 00:01:37,320
on depending on where you are 
and what the prevalence is, how 

29
00:01:37,320 --> 00:01:42,320
common the situation is in the 
UK and lots of area in parts of 

30
00:01:42,320 --> 00:01:44,880
the UK in cities like London and
Birmingham, Manchester where 

31
00:01:44,880 --> 00:01:48,800
there's a high prevalence and 
same in European countries. 

32
00:01:48,800 --> 00:01:51,240
Then the idea is that every 
woman when she books for 

33
00:01:51,240 --> 00:01:54,640
pregnancy is also tested to see 
whether she could carry sickle 

34
00:01:54,640 --> 00:01:57,680
cell or thalassemia, which 
involves having a full blood 

35
00:01:57,680 --> 00:02:00,760
count and also haemoglobin 
analysis to look for the 

36
00:02:00,760 --> 00:02:04,320
presence of sickle haemoglobin. 
And then if she, if she is a 

37
00:02:04,320 --> 00:02:08,440
sickle carrier or a thalassemia 
carrier, then the next step 

38
00:02:08,440 --> 00:02:12,680
would be to invite her partner, 
even the father of the pregnancy

39
00:02:12,680 --> 00:02:17,800
to, to come and be tested also. 
And if both of those people are 

40
00:02:17,800 --> 00:02:21,520
carriers that put the the fetus 
at risk of in developing a 

41
00:02:21,520 --> 00:02:25,520
significant haemoglobinopathy, 
then the the couple are 

42
00:02:25,520 --> 00:02:29,160
counselled regarding that risk. 
And what the counselling's for 

43
00:02:29,160 --> 00:02:30,880
depends a bit what country 
you're in. 

44
00:02:30,880 --> 00:02:33,920
The idea is to give mothers 
choice so that they know or 

45
00:02:33,920 --> 00:02:37,440
couples choice so that they know
the they're at risk of having an

46
00:02:37,440 --> 00:02:41,640
affected baby. 
And the choice is really to, you

47
00:02:41,640 --> 00:02:43,920
know, involves part of that 
choice is whether they want to 

48
00:02:43,920 --> 00:02:47,320
continue the pregnancy and have,
you know, have a termination. 

49
00:02:47,320 --> 00:02:50,760
Obviously that varies quite a 
lot culturally and in the UK 

50
00:02:50,760 --> 00:02:55,400
that that is the primary purpose
of the antenatal screening 

51
00:02:55,400 --> 00:02:57,360
programme. 
In some countries, it's more 

52
00:02:57,360 --> 00:03:00,440
about choice and giving 
information so that people can 

53
00:03:00,440 --> 00:03:05,520
prepare for the possibility of 
having a a child with a medical 

54
00:03:05,520 --> 00:03:07,880
condition. 
I can imagine that's quite a 

55
00:03:07,880 --> 00:03:11,160
difficult conversation to have. 
Again, it depends. 

56
00:03:11,440 --> 00:03:15,000
One key thing is the the and. 
As it stands, antenatal 

57
00:03:15,000 --> 00:03:19,040
screening carries a when if you,
If both couples are at risk, 

58
00:03:19,040 --> 00:03:22,160
then the next step is to have 
prenatal diagnostic testing 

59
00:03:22,160 --> 00:03:25,560
where you have a, the standard 
is to, you know, to have an 

60
00:03:25,560 --> 00:03:29,560
invasive test involving an 
amniocentesis or chorionic bill 

61
00:03:29,560 --> 00:03:32,400
of sampling where you put a 
needle into the womb, which is, 

62
00:03:32,400 --> 00:03:35,080
well, firstly, I'm comfortable 
and secondly, does increase the 

63
00:03:35,080 --> 00:03:38,360
risk of miscarriage by, by a 
small amount. 

64
00:03:38,360 --> 00:03:41,280
Probably it's only a very small 
amount, but it's probably still 

65
00:03:41,280 --> 00:03:43,440
there. 
And so the test isn't something 

66
00:03:43,440 --> 00:03:46,920
people can do casually in the 
sense that you'll put, you have 

67
00:03:46,920 --> 00:03:50,200
to be sure that you'll, you want
to know this information really.

68
00:03:51,520 --> 00:03:53,720
And you have to be sure that the
information is going to be 

69
00:03:53,720 --> 00:03:58,320
useful in the sense that you're 
putting the, the fetus at risk. 

70
00:03:58,320 --> 00:04:02,520
And it's not just like a, you 
know, harmless blood test where,

71
00:04:03,880 --> 00:04:06,560
where you get the information. 
And you can then you, once 

72
00:04:06,560 --> 00:04:08,640
you've got the information, you 
can decide what you want to do 

73
00:04:08,640 --> 00:04:10,720
with it. 
You have to really think why 

74
00:04:10,720 --> 00:04:15,520
you're having the test done. 
People are developing, you know,

75
00:04:16,079 --> 00:04:19,600
there are available and they're 
in development ways of doing the

76
00:04:19,600 --> 00:04:22,640
tests by using maternal blood. 
So in a non invasive way, 

77
00:04:22,640 --> 00:04:26,760
because there are small amounts 
of DNA and and cells from the 

78
00:04:26,760 --> 00:04:29,360
fetus in mother's blood when 
they're in a mother's blood when

79
00:04:29,360 --> 00:04:32,480
they're pregnant. 
And you can test that, although 

80
00:04:32,480 --> 00:04:35,640
it's technically still quite 
difficult to try and identify 

81
00:04:35,640 --> 00:04:40,800
whether the fetus is is affected
by sickle or or not. 

82
00:04:41,320 --> 00:04:45,400
That can be done, although it's 
still not 100% sensitive and 

83
00:04:45,400 --> 00:04:49,560
specific, it's still not of the 
standard required for a prenatal

84
00:04:49,560 --> 00:04:53,680
diagnosis, but it it is being 
developed and that that is 

85
00:04:53,680 --> 00:04:56,360
likely to become an important 
option in the fairly near 

86
00:04:56,360 --> 00:04:57,600
future. 
OK. 

87
00:04:57,640 --> 00:05:00,320
And chorionic villa sampling, 
can that be done at any point 

88
00:05:00,320 --> 00:05:02,680
during pregnancy? 
No, I mean, I think it has to be

89
00:05:02,680 --> 00:05:07,080
done, can't be done before about
11 weeks, 10 or 11 weeks. 

90
00:05:07,080 --> 00:05:09,080
People went through a phase of 
doing. 

91
00:05:09,600 --> 00:05:12,400
People used to do it earlier and
it caused foetal abnormalities. 

92
00:05:12,400 --> 00:05:15,280
It caused loss of foetal limbs 
and things like that. 

93
00:05:15,280 --> 00:05:19,040
So 11-12 weeks is the earliest 
it can be done and it can be up 

94
00:05:19,040 --> 00:05:22,840
to up to about 14 or 15 weeks. 
And after that, amniocentesis 

95
00:05:22,840 --> 00:05:26,200
tends to be done where you just 
take take the fluid out from 

96
00:05:26,200 --> 00:05:29,520
around the baby. 
The see, the see, the earlier it

97
00:05:29,520 --> 00:05:31,960
can be done, the better in the 
sense that if you're taking a 

98
00:05:31,960 --> 00:05:35,240
choice about terminating a 
pregnancy, that's a much easier 

99
00:05:35,880 --> 00:05:38,200
decision really. 
And if you're early on in the 

100
00:05:38,200 --> 00:05:41,360
pregnancy or certainly 
termination is much easier in, 

101
00:05:41,880 --> 00:05:44,520
you know, if you're 8 weeks 
pregnant compared to 16 weeks 

102
00:05:44,520 --> 00:05:46,960
pregnant. 
So it makes makes it a a 

103
00:05:47,560 --> 00:05:50,800
slightly different choice and a 
more realistic choice which is 

104
00:05:50,800 --> 00:05:55,120
where the non invasive testing 
also has an advantage that can 

105
00:05:55,120 --> 00:05:59,400
be done earlier. 
What's the utility of doing 

106
00:05:59,400 --> 00:06:04,400
invasive tests in in an area or 
a country where termination 

107
00:06:04,400 --> 00:06:09,360
might not be an option? 
Well, I think it's it's a more 

108
00:06:09,360 --> 00:06:12,200
difficult question. 
Certainly medical termination 

109
00:06:12,200 --> 00:06:14,800
is, is an option in many 
countries. 

110
00:06:15,800 --> 00:06:18,880
And sometimes, you know, 
individual mothers may choose to

111
00:06:18,880 --> 00:06:22,480
leave the country that they're 
in and move to a country, you 

112
00:06:22,480 --> 00:06:25,880
know, to have the termination 
where the the fetus affected. 

113
00:06:26,200 --> 00:06:29,960
There is, it is useful 
information and some people in 

114
00:06:29,960 --> 00:06:34,560
this country want to know. 
They know they won't have a 

115
00:06:34,560 --> 00:06:37,000
termination, but they feel they 
want to know that they want to 

116
00:06:37,000 --> 00:06:40,680
prepare themselves mentally for 
having a baby who could have 

117
00:06:40,680 --> 00:06:44,840
medical problems. 
Because sickle cell disease 

118
00:06:44,840 --> 00:06:47,560
doesn't affect the fetus in the 
womb and it doesn't really have 

119
00:06:47,560 --> 00:06:50,560
any clinical cause, any clinical
problems till a few months of 

120
00:06:50,560 --> 00:06:52,920
life at the earliest. 
There's no strong medical reason

121
00:06:52,920 --> 00:06:54,760
for finding out. 
It doesn't alter how the 

122
00:06:55,240 --> 00:06:59,000
pregnancy is managed or how the 
birth is is managed, but if 

123
00:06:59,000 --> 00:07:01,760
there are some people it is, you
know, it's important information

124
00:07:01,760 --> 00:07:05,440
and they just want to mentally 
prepare for having a baby. 

125
00:07:05,440 --> 00:07:08,520
With that, I think the other 
important point about it is that

126
00:07:08,520 --> 00:07:11,480
I think you can't make any 
assumptions about what people 

127
00:07:11,480 --> 00:07:13,080
will choose. 
And the idea that, you know, if 

128
00:07:13,080 --> 00:07:15,560
you're Catholic or Muslim, you 
wouldn't necessarily consider 

129
00:07:15,560 --> 00:07:18,360
termination isn't individually 
true. 

130
00:07:18,360 --> 00:07:21,160
And it's important that, you 
know, everyone is offered the 

131
00:07:21,160 --> 00:07:23,760
choices in the same way and you 
don't have any any 

132
00:07:23,760 --> 00:07:27,240
preconceptions, certainly. 
So in most of the world then 

133
00:07:27,440 --> 00:07:31,720
termination isn't legal. 
But but, and in most of the 

134
00:07:31,720 --> 00:07:35,160
world where sickle cell occurs, 
then it's either not available 

135
00:07:35,160 --> 00:07:37,520
or not legal. 
Although medical termination, 

136
00:07:37,520 --> 00:07:41,640
which we're sort of talking 
about is, you know, has 

137
00:07:41,640 --> 00:07:46,720
different rules applying to it. 
OK, so say a mother hasn't 

138
00:07:47,640 --> 00:07:51,280
chosen to undergo screening 
during pregnancy. 

139
00:07:51,880 --> 00:07:55,080
What would be a reason to screen
a child after it? 

140
00:07:55,080 --> 00:07:57,160
Or a baby once it's born? 
A neonate. 

141
00:07:57,320 --> 00:07:59,880
Well, in the UK and I think most
people think that it should 

142
00:07:59,880 --> 00:08:02,680
happen in nearly every country 
where sickle cell occurs, then 

143
00:08:02,680 --> 00:08:07,040
every baby is tested so that 
every baby at birth, you know, 

144
00:08:07,040 --> 00:08:10,160
after 7 or 8 days of life, a 
heel prick is tested and that 

145
00:08:10,160 --> 00:08:13,880
spot of blood is used for 
looking for lots of conditions 

146
00:08:13,920 --> 00:08:17,080
like including cystic fibrosis 
and phenyl cushion area and 

147
00:08:17,080 --> 00:08:19,400
sickle cell is has been added to
that. 

148
00:08:19,400 --> 00:08:23,480
So every baby is born in the UK 
who is tested for that. 

149
00:08:23,480 --> 00:08:26,880
And that's true in in some 
states in the United States and 

150
00:08:26,880 --> 00:08:30,760
some some European countries, I 
think France probably. 

151
00:08:30,760 --> 00:08:34,600
Now the alternative is to and 
what used to happen is that you 

152
00:08:34,600 --> 00:08:39,240
try, you try to identify babies 
at high risk of having sickle bi

153
00:08:40,000 --> 00:08:42,280
where it may be their mothers 
have been tested all based on 

154
00:08:42,280 --> 00:08:47,000
their their apparent ethnicity 
or in in the second is more 

155
00:08:47,000 --> 00:08:49,680
common in in some parts of the 
world. 

156
00:08:49,680 --> 00:08:52,000
It's relatively uncommon in 
northern Europeans and it's 

157
00:08:52,000 --> 00:08:54,960
relatively common in families of
African origin. 

158
00:08:55,360 --> 00:08:59,160
So that in some countries people
identify high risk pregnancies 

159
00:08:59,160 --> 00:09:02,560
based on the ethnicity. 
In the UK that's it was 

160
00:09:02,560 --> 00:09:06,080
discussed and used to happen, 
but it's become impractical in 

161
00:09:06,080 --> 00:09:08,320
that people have caught, you 
know, it's difficult to know, 

162
00:09:08,800 --> 00:09:10,600
it's difficult to know what the 
right question is. 

163
00:09:10,600 --> 00:09:13,080
And you can't rely on the colour
of someone's skin or if they've 

164
00:09:13,080 --> 00:09:17,360
got a, a funny sounding name. 
You have to have some objective 

165
00:09:17,360 --> 00:09:21,880
way and whether you're saying, 
you know, all four grandparents 

166
00:09:21,880 --> 00:09:25,880
have to be born in a in a 
northern European country and 

167
00:09:25,880 --> 00:09:29,160
some that's not true of many 
people now in London, the vast 

168
00:09:29,160 --> 00:09:33,160
majority of people have quite 
complex and mixed race origins. 

169
00:09:33,160 --> 00:09:36,280
And it's also quite to do that 
properly, to use someone's 

170
00:09:36,280 --> 00:09:40,080
ethnicity to determine the the 
foetal risk. 

171
00:09:41,880 --> 00:09:44,160
It takes quite a long time. 
And in a way it's quicker and 

172
00:09:44,160 --> 00:09:47,440
cheaper just to do the test 
because you're, the idea was 

173
00:09:47,440 --> 00:09:50,640
that you can avoid doing too 
many blood tests or which were 

174
00:09:50,640 --> 00:09:54,160
perceived as being expensive by,
you know, selecting the babies 

175
00:09:54,160 --> 00:09:57,440
who are at higher risk. 
So in the UK it's universal neo 

176
00:09:57,440 --> 00:10:01,880
national screening physical and 
I think in and that is, you 

177
00:10:01,880 --> 00:10:04,560
know, the idea is that that 
really maybe should be used 

178
00:10:04,560 --> 00:10:07,280
across Europe and lots of people
think that that should apply in 

179
00:10:07,280 --> 00:10:13,000
every European country. 
Now that the numbers of people 

180
00:10:13,000 --> 00:10:16,040
with sickle cell is increasing 
really across Europe in previous

181
00:10:16,040 --> 00:10:19,160
low, low prevalence areas, it's 
now quite common. 

182
00:10:19,720 --> 00:10:22,720
And I should say related to 
that, that E as you E, how are 

183
00:10:22,720 --> 00:10:25,720
now developing guidelines on 
this specifically there's a 

184
00:10:25,720 --> 00:10:30,000
working party to develop 
guidelines on neonatal, I think 

185
00:10:30,000 --> 00:10:33,600
just on neonatal screening. 
So exactly who should be tested 

186
00:10:33,600 --> 00:10:37,760
and how they should be tested 
and what you know and whether 

187
00:10:37,760 --> 00:10:41,200
what country should test really 
how many, how many affected 

188
00:10:41,200 --> 00:10:43,560
births do you have to have 
before it's this sort of thing 

189
00:10:43,560 --> 00:10:46,960
is included, OK. 
Do you often find that there are

190
00:10:46,960 --> 00:10:50,600
challenges in approaching 
screening with parents? 

191
00:10:51,400 --> 00:10:56,040
This screening, yeah, they not 
hugely. 

192
00:10:56,040 --> 00:10:59,080
I think there was concern that 
occasionally, you know, people 

193
00:10:59,080 --> 00:11:01,120
who have, you know, their 
parent, they've lived in a 

194
00:11:01,120 --> 00:11:03,960
certain part of England for all 
their life and all their 

195
00:11:03,960 --> 00:11:05,960
ancestors have lived in the same
village. 

196
00:11:05,960 --> 00:11:08,600
And they don't like the idea 
that they're going to be tested 

197
00:11:08,600 --> 00:11:11,920
for some disease that is not 
common in, in, you know, 

198
00:11:11,960 --> 00:11:16,880
northern Europeans in general. 
There's not really much 

199
00:11:16,880 --> 00:11:18,640
resistance to it. 
As I say, it's part of a more 

200
00:11:18,640 --> 00:11:23,120
general neonatal screening where
lots of conditions are tested 

201
00:11:23,120 --> 00:11:25,200
for like cystic fibrosis as 
well. 

202
00:11:25,520 --> 00:11:28,440
And it sounds very unusual for 
someone to specifically say, oh,

203
00:11:28,440 --> 00:11:30,880
I want all tests, but I don't 
want to be tested for sickle 

204
00:11:30,880 --> 00:11:33,280
cell. 
And the neonatal screening works

205
00:11:33,280 --> 00:11:34,840
very well. 
There's very good coverage in 

206
00:11:34,840 --> 00:11:39,120
the UK and there's a good system
and more than 99% of people have

207
00:11:39,120 --> 00:11:40,760
testing done. 
OK. 

208
00:11:41,120 --> 00:11:43,600
Do you think there's a 
reluctance in other parts of the

209
00:11:43,600 --> 00:11:47,560
world to adopt this? 
I think neonatal screening, I 

210
00:11:47,560 --> 00:11:49,960
think there's a cost to it as 
the issue. 

211
00:11:49,960 --> 00:11:53,440
I think in general there's a 
perception that, you know, if 

212
00:11:53,440 --> 00:11:57,760
it's a rare disease that you'll 
test, you know, hundreds of 

213
00:11:57,760 --> 00:11:59,880
thousands of children not pick 
up anything. 

214
00:11:59,880 --> 00:12:02,440
But that is currently done 
really a phenol cutaneura which 

215
00:12:02,440 --> 00:12:05,360
is tested for every baby is 
tested for is incredibly rare. 

216
00:12:05,360 --> 00:12:08,680
There are, you know, only a 
handful of cases each year and 

217
00:12:08,680 --> 00:12:12,600
that's been, whereas in sickles 
in the UK there are 300 cases a 

218
00:12:12,600 --> 00:12:14,680
year. 
And in most European countries 

219
00:12:15,000 --> 00:12:17,920
there'd be more cases of 
phenylketonuria, of sickle cell 

220
00:12:17,920 --> 00:12:21,280
disease and phenylketonuria. 
And yet people test for 

221
00:12:21,280 --> 00:12:25,680
phenylketonuria because for 
historical reasons. 

222
00:12:25,720 --> 00:12:28,680
The other important thing about 
testing is there has to be a, an

223
00:12:28,680 --> 00:12:32,200
intervention that makes a 
difference of screening and, and

224
00:12:32,200 --> 00:12:34,200
in sickle cell. 
They're the reason it's 

225
00:12:34,200 --> 00:12:37,120
important to test babies is that
you can start them on penicillin

226
00:12:37,120 --> 00:12:40,320
at an early age to protect 
against infection. 

227
00:12:40,320 --> 00:12:43,480
And without that, we know that a
proportion of children, you 

228
00:12:43,480 --> 00:12:46,400
know, become very unwell or even
die before the diagnosis is 

229
00:12:46,400 --> 00:12:49,480
made. 
So it does have a well, it's a 

230
00:12:49,640 --> 00:12:51,240
good thing to do in itself, 
probably. 

231
00:12:51,240 --> 00:12:53,960
But secondly, there is a very 
practical reason for doing it. 

232
00:12:54,560 --> 00:12:56,720
Yeah. 
What other developments could 

233
00:12:56,720 --> 00:12:59,800
you foresee in the future for 
when it comes to screening for 

234
00:12:59,800 --> 00:13:03,040
sickle cell disease? 
Well, one issue particularly for

235
00:13:03,200 --> 00:13:07,400
prenatal diagnosis is that 
predicting the severity of the 

236
00:13:07,560 --> 00:13:09,480
the baby. 
We know sickle cell disease is 

237
00:13:09,480 --> 00:13:12,720
very variable and some children 
have, you know, no problems and 

238
00:13:12,720 --> 00:13:15,040
are completely healthy and 
others are really quite severely

239
00:13:15,040 --> 00:13:18,040
affected and can have strokes 
and severe complications. 

240
00:13:18,480 --> 00:13:22,600
And if we could predict, you 
know, using other genetic 

241
00:13:22,600 --> 00:13:25,440
markers, you know, whether this 
was going to be a severely 

242
00:13:25,440 --> 00:13:28,080
affected or mildly affected 
child, then that would again, be

243
00:13:28,080 --> 00:13:32,320
very useful information for to 
help parents choose about 

244
00:13:32,320 --> 00:13:35,560
whether what to do regarding 
continue continuing the 

245
00:13:35,560 --> 00:13:37,880
pregnancy. 
We and others have been trying 

246
00:13:37,880 --> 00:13:40,920
for a very long time to identify
genetic markers that predict 

247
00:13:40,960 --> 00:13:43,120
severity. 
And it's still really basically 

248
00:13:43,120 --> 00:13:45,520
not possible to do that. 
One or two things that can give 

249
00:13:45,520 --> 00:13:49,240
you a clue, but they're not 
specific enough to want to for 

250
00:13:49,240 --> 00:13:53,960
you want to to use to make a 
sort of, you know, big decision 

251
00:13:53,960 --> 00:13:55,960
about whether to continue a 
pregnancy or not. 

252
00:13:56,360 --> 00:13:59,720
But with genomic medicine 
developing and whole genome 

253
00:13:59,720 --> 00:14:03,120
sequencing starting on on babies
and everything, then it may be 

254
00:14:03,360 --> 00:14:07,280
and more bioinformatic 
capabilities, it may be possible

255
00:14:07,280 --> 00:14:10,960
to give a much more precise 
direction, which would then add 

256
00:14:10,960 --> 00:14:14,880
greatly to the value and the the
prenatal diagnosis. 

257
00:14:14,880 --> 00:14:17,680
And so that would be an 
important way to provide much 

258
00:14:17,680 --> 00:14:19,800
more valuable information to 
families. 

259
00:14:19,880 --> 00:14:21,320
That sounds wonderful. 
Is there any way to 

260
00:14:21,320 --> 00:14:24,920
prognosticate in neonates at the
moment? 

261
00:14:25,440 --> 00:14:28,360
OK, it's a good question. 
And the same arguments apply and

262
00:14:28,360 --> 00:14:33,720
the there are crude guidelines 
really you can identify for 

263
00:14:33,720 --> 00:14:37,760
example, that boys do less well 
than girls and you can predict 

264
00:14:37,760 --> 00:14:40,880
the hemoglobin F level and 
things like the presence of 

265
00:14:41,160 --> 00:14:44,440
alpha thalassemia determine 
outcomes, but to a fairly small 

266
00:14:44,440 --> 00:14:47,200
extent. 
I think the issue for that is 

267
00:14:47,200 --> 00:14:49,960
wise at the moment. 
There are there are some 

268
00:14:49,960 --> 00:14:51,800
curative treatments, but they're
all quite toxic. 

269
00:14:51,800 --> 00:14:55,800
They all involve basically, you 
know, myeloablation and A and a 

270
00:14:55,800 --> 00:15:01,000
risk of severe complications. 
So though if you could predict 

271
00:15:01,040 --> 00:15:05,560
which children are going to have
say a stroke, then then you 

272
00:15:05,560 --> 00:15:08,120
there will be a strong argument 
for you're giving these quite 

273
00:15:08,120 --> 00:15:11,000
toxic curative treatments at an 
early stage. 

274
00:15:11,360 --> 00:15:13,680
We've tried and others are going
to have tried quite hard to 

275
00:15:13,680 --> 00:15:17,080
predict stroke and identify 
factors and what, And again, 

276
00:15:17,080 --> 00:15:19,560
once we found some factors and 
we haven't found enough to 

277
00:15:19,560 --> 00:15:23,680
actually, you know, make a, a 
big decision on, you know, 

278
00:15:23,680 --> 00:15:26,080
clinical decision where you say,
yes, no, we're going to 

279
00:15:26,080 --> 00:15:28,680
transplant them or not. 
I think that will change as 

280
00:15:28,680 --> 00:15:32,000
curative treatment becomes less 
more widely available and and 

281
00:15:32,000 --> 00:15:35,400
less toxic then I think it will.
We will reach the stage, as I 

282
00:15:35,400 --> 00:15:40,880
said previously, that that every
foetus, every baby had 

283
00:15:40,880 --> 00:15:42,880
potentially has a curative 
treatment. 

284
00:15:42,880 --> 00:15:45,960
So the need to discriminate 
between severe and mild will 

285
00:15:45,960 --> 00:15:50,440
become less important. 
If we were to, you know, get in 

286
00:15:50,440 --> 00:15:53,160
a time machine and go 50 years 
in the future, what would you 

287
00:15:53,160 --> 00:15:54,880
hope for? 
A screening for sickle cell 

288
00:15:54,880 --> 00:15:56,720
disease. 
I think to be honest, the 

289
00:15:56,720 --> 00:15:59,680
screening is pretty good now. 
I think every, I think for me, I

290
00:15:59,680 --> 00:16:02,960
think every country in Europe 
should test every baby born for 

291
00:16:03,000 --> 00:16:05,040
sickle cell disease. 
And then, you know, more 

292
00:16:05,040 --> 00:16:08,000
importantly, it's almost where 
sickle cell is most common in 

293
00:16:08,000 --> 00:16:10,760
Africa and India, there's almost
no neonatal screening. 

294
00:16:10,760 --> 00:16:13,960
So if you wanted to wish 
something, it would be that, you

295
00:16:13,960 --> 00:16:16,880
know, the neonatal screening had
been set up in these countries 

296
00:16:16,880 --> 00:16:19,760
where it would actually have a 
huge impact in the, you know, 

297
00:16:19,760 --> 00:16:23,120
80% of people die in childhood 
and a large proportion of that 

298
00:16:23,120 --> 00:16:26,760
is present, preventable by 
starting penicillin and other 

299
00:16:26,840 --> 00:16:28,600
preventive measures at an early 
age. 

300
00:16:28,960 --> 00:16:32,120
So if you could go ahead and say
in 50 years you'd really hope 

301
00:16:32,120 --> 00:16:35,440
that, you know, Nigeria and 
Congo and India have a national 

302
00:16:35,440 --> 00:16:38,680
neonatal screening programme and
every baby is tested. 

303
00:16:39,160 --> 00:16:40,440
That would be wonderful. 
It would. 

304
00:16:40,440 --> 00:16:42,920
And that would make a real far 
more difference than we make in 

305
00:16:43,120 --> 00:16:45,360
the Uki mean make a difference, 
but you know, you could make a 

306
00:16:45,360 --> 00:16:47,040
huge difference there. 
OK. 

307
00:16:48,000 --> 00:16:51,400
And that will become more 
relevant as curative treatments 

308
00:16:51,400 --> 00:16:54,200
become available. 
And that with gene editing, it's

309
00:16:54,200 --> 00:16:57,240
I think in 50 years, almost 
certainly that will be, you 

310
00:16:57,240 --> 00:16:58,640
know, widely available 
treatment. 

311
00:16:58,640 --> 00:17:03,240
And so it'll be possible, you 
know, potentially to, you know, 

312
00:17:03,240 --> 00:17:06,400
cure babies neonatally. 
And even we're not even further 

313
00:17:06,400 --> 00:17:08,000
ahead. 
We're currently looking at 

314
00:17:08,000 --> 00:17:12,720
research doing for doing in 
utero gene therapy for treating 

315
00:17:12,720 --> 00:17:17,400
fetuses in the womb, which has 
some advantages. 

316
00:17:17,400 --> 00:17:20,800
So potentially that our 
screening could, if that becomes

317
00:17:20,839 --> 00:17:23,720
a, a feasible and effective way 
of treating them, it could 

318
00:17:23,720 --> 00:17:26,760
become quite an effective, you 
know, the the antenatal 

319
00:17:26,760 --> 00:17:28,840
screening will become more 
important so that you can. 

320
00:17:30,480 --> 00:17:31,840
That sounds wonderful it. 
Does. 

321
00:17:33,440 --> 00:17:36,680
Well, thank you so much for 
talking to us today and thank 

322
00:17:36,680 --> 00:17:40,160
you to our audience listening to
this episode of EHA Unplugged. 

323
00:17:40,240 --> 00:17:42,000
Stay tuned for our next episode.