[EN] - Europe, the US and China competing in genomic medicine : innovation has become a global race

WEBVTT

1
00:00:00.544 --> 00:00:01.265
In recent years,

2
00:00:01.345 --> 00:00:04.768
I have recorded numerous conversations about innovation in healthcare,

3
00:00:05.308 --> 00:00:05.989
but looking back,

4
00:00:06.109 --> 00:00:08.071
some of them now take on a different dimension.

5
00:00:08.491 --> 00:00:11.014
Because behind scientific advances,

6
00:00:11.114 --> 00:00:12.275
we discover something else.

7
00:00:12.415 --> 00:00:13.416
National strategies,

8
00:00:13.576 --> 00:00:16.439
choices in industry and political balances.

9
00:00:17.079 --> 00:00:19.061
The United States is investing massively.

10
00:00:19.742 --> 00:00:20.963
China is accelerating.

11
00:00:21.183 --> 00:00:22.844
Europe is searching for its path.

12
00:00:23.565 --> 00:00:25.347
Innovation is not only scientific,

13
00:00:25.507 --> 00:00:26.728
it is also geopolitical.

14
00:00:27.372 --> 00:00:28.173
In this mini-series,

15
00:00:28.213 --> 00:00:34.618
I offer you an editorial reinterpretation of several episodes already published on PharmaMinds to explore a simple question,

16
00:00:35.018 --> 00:00:36.620
who really controls innovation?

17
00:00:38.041 --> 00:00:39.282
If these topics interest you,

18
00:00:39.322 --> 00:00:42.224
I invite you to subscribe to follow the entire series.

19
00:00:42.805 --> 00:00:43.305
And of course,

20
00:00:43.345 --> 00:00:47.228
I would be very curious to read your reactions and experiences in the comments.

21
00:00:54.074 --> 00:00:56.336
Europe versus the United States versus China.

22
00:00:56.644 --> 00:00:58.165
Who will lead genomic medicine?

23
00:00:59.466 --> 00:01:01.387
Genomic medicine is no longer theoretical.

24
00:01:01.787 --> 00:01:03.669
The United States is investing massively,

25
00:01:04.069 --> 00:01:05.730
China is deploying on a large scale,

26
00:01:06.411 --> 00:01:06.971
and in Europe,

27
00:01:07.071 --> 00:01:11.234
projects like PERIGENOMED are seeking to redefine newborn screening.

28
00:01:11.934 --> 00:01:14.216
An investment phase for the project has been approved,

29
00:01:14.316 --> 00:01:18.359
with 20,000 babies to be screened and 15 maternity wards involved.

30
00:01:19.059 --> 00:01:20.120
Research is progressing,

31
00:01:20.340 --> 00:01:22.341
but the real question goes beyond science.

32
00:01:22.962 --> 00:01:26.204
Each world region is making progress with its own ethical framework.

33
00:01:26.728 --> 00:01:28.169
its own regulatory framework,

34
00:01:28.209 --> 00:01:29.769
its own societal limitations.

35
00:01:30.449 --> 00:01:32.410
The question then becomes a strategic one.

36
00:01:32.730 --> 00:01:35.711
Who will set the rules for preventive genomic medicine?

37
00:01:36.471 --> 00:01:38.112
If you want to follow the entire series,

38
00:01:38.212 --> 00:01:39.052
consider subscribing.

39
00:01:39.412 --> 00:01:40.533
At the beginning of my career,

40
00:01:40.573 --> 00:01:41.853
I had a difficult experience.

41
00:01:42.313 --> 00:01:45.114
I became acquainted with a family whose eldest daughter,

42
00:01:45.214 --> 00:01:46.355
who was six years old,

43
00:01:46.775 --> 00:01:50.056
had just been diagnosed with metachromatic leukodystrophy.

44
00:01:50.976 --> 00:01:54.137
These are children who begin to lose their vision and hearing,

45
00:01:54.217 --> 00:01:56.678
can no longer walk and eventually pass away.

46
00:01:57.978 --> 00:02:01.919
The parents of this little girl came in for a consultation to screen the younger sister.

47
00:02:02.819 --> 00:02:03.419
Unfortunately,

48
00:02:03.459 --> 00:02:06.980
the younger sister was also affected and both little girls passed away.

49
00:02:08.621 --> 00:02:09.241
And at the time,

50
00:02:09.261 --> 00:02:12.982
I thought it was extremely unfair and that to put a stop to this,

51
00:02:13.602 --> 00:02:16.943
we needed to be able to make diagnoses much earlier and also have a treatment.

52
00:02:17.503 --> 00:02:20.164
And now this disease is treated with gene therapy.

53
00:02:20.860 --> 00:02:25.782
The PERIGENOMED project is widely recognized as the leading national pilot project on this issue.

54
00:02:26.262 --> 00:02:27.062
The stakes are clear.

55
00:02:27.382 --> 00:02:29.103
There is a general diagnostic tool,

56
00:02:29.983 --> 00:02:31.684
which is known as genome sequencing.

57
00:02:32.004 --> 00:02:36.505
A single test could potentially allow us to screen for several hundred different diseases.

58
00:02:37.306 --> 00:02:40.687
And will France decide to embark on this specific policy or not,

59
00:02:41.427 --> 00:02:43.548
when compared to the other available options?

60
00:02:51.200 --> 00:02:51.880
Hello everyone,

61
00:02:52.261 --> 00:02:54.302
welcome to this new episode of PharmaMinds.

62
00:02:55.862 --> 00:02:58.724
This episode was produced with the support of Kyowa Kirin.

63
00:03:00.104 --> 00:03:06.107
Today I'm absolutely delighted to be here in the city of Dijon to extend a very warm welcome to our guest,

64
00:03:06.187 --> 00:03:07.448
Professor Laurence Fevre,

65
00:03:07.888 --> 00:03:11.630
who is a highly renowned and leading expert in the field of genetics.

66
00:03:12.951 --> 00:03:13.571
Hello Laurence.

67
00:03:13.911 --> 00:03:14.551
Hello Nathalie,

68
00:03:14.591 --> 00:03:15.832
I am happy to be here as well.

69
00:03:16.216 --> 00:03:17.878
For the very first time in our series,

70
00:03:17.898 --> 00:03:21.041
we are going to dive deep into the world of genetics today.

71
00:03:21.822 --> 00:03:25.166
This is a topic that some might consider to be a bit niche,

72
00:03:25.306 --> 00:03:30.611
and you might even think it is a complex subject meant for experts that does not really concern everyone.

73
00:03:31.392 --> 00:03:34.976
But the real reason I am standing here today is to tell you that,

74
00:03:36.097 --> 00:03:36.498
in fact,

75
00:03:36.798 --> 00:03:38.640
we are at a pivotal moment right now.

76
00:03:39.188 --> 00:03:46.692
because we are currently talking about the field of advanced genomics as it is applied to proactive preventive medicine.

77
00:03:46.773 --> 00:03:51.395
We are talking about medicine that is no longer solely about curing,

78
00:03:51.876 --> 00:03:54.077
but about taking care of a disease,

79
00:03:54.637 --> 00:03:55.618
almost before it emerges,

80
00:03:55.678 --> 00:03:56.878
before it even manifests.

81
00:03:58.039 --> 00:04:01.161
And it's this specific subject matter that I find truly fascinating today.

82
00:04:02.042 --> 00:04:06.024
What's particularly fascinating is to approach it from the unique angle of genomics.

83
00:04:06.816 --> 00:04:09.979
which raises a wide range of significant and complex questions,

84
00:04:10.219 --> 00:04:10.960
technological,

85
00:04:11.080 --> 00:04:13.322
ethical and profound economic considerations.

86
00:04:14.683 --> 00:04:17.686
So I'm delighted to be able to have this conversation today.

87
00:04:19.007 --> 00:04:25.132
One project that is particularly emblematic and that you are currently working on today is the Paris Genomed project.

88
00:04:25.973 --> 00:04:31.057
This is a highly significant and major initiative of truly national scope and very great importance.

89
00:04:31.758 --> 00:04:32.438
Let's get started.

90
00:04:33.379 --> 00:04:34.040
Let's get started.

91
00:04:35.060 --> 00:04:37.661
We can begin our discussion with this PERIGENOMED project,

92
00:04:38.301 --> 00:04:41.602
which is essentially defined as an innovative newborn screening project.

93
00:04:41.662 --> 00:04:42.663
I'll let you tell me about it.

94
00:04:43.023 --> 00:04:43.263
Yes,

95
00:04:43.543 --> 00:04:47.124
so newborn screening is something that has existed for a very long time,

96
00:04:47.304 --> 00:04:50.445
since it was implemented in France in 1972,

97
00:04:50.985 --> 00:04:53.126
around a disease called phenylketonuria,

98
00:04:53.726 --> 00:04:54.967
which is a rare disease,

99
00:04:55.187 --> 00:04:56.027
not very well known,

100
00:04:56.207 --> 00:04:58.088
because it no longer exists in France,

101
00:04:58.308 --> 00:04:58.768
ultimately.

102
00:05:00.033 --> 00:05:03.215
This condition caused what is known as a metabolic disorder,

103
00:05:03.875 --> 00:05:11.459
resulting from a significant deficiency of a critical enzyme that ultimately led to a very severe intellectual disability.

104
00:05:12.319 --> 00:05:19.223
And it was shown quite early on that if a special diet was given from birth to children who had this disease,

105
00:05:19.563 --> 00:05:20.964
the disease would not develop.

106
00:05:22.405 --> 00:05:22.525
So

107
00:05:23.161 --> 00:05:27.062
The process of newborn screening for newborns was launched in many countries,

108
00:05:27.162 --> 00:05:30.323
in all countries that had the capacity to implement it.

109
00:05:31.103 --> 00:05:32.323
And over time,

110
00:05:32.584 --> 00:05:34.664
several other diseases were added,

111
00:05:34.824 --> 00:05:37.685
with the number of diseases differing significantly,

112
00:05:38.205 --> 00:05:39.946
depending on the specific country.

113
00:05:40.946 --> 00:05:42.086
In France currently,

114
00:05:42.146 --> 00:05:45.487
we screen for a total of 13 different genetic diseases,

115
00:05:45.787 --> 00:05:46.867
plus hearing loss.

116
00:05:47.788 --> 00:05:48.448
And this year,

117
00:05:48.888 --> 00:05:52.529
three additional new groups of diseases are going to be added to the program.

118
00:05:53.597 --> 00:05:56.759
And so the challenge is maybe there are,

119
00:05:57.019 --> 00:05:57.600
from memory,

120
00:05:57.820 --> 00:05:59.541
5,000 diseases that are genetic?

121
00:05:59.881 --> 00:06:00.041
Yes,

122
00:06:00.061 --> 00:06:02.323
we are talking about several hundred conditions.

123
00:06:03.144 --> 00:06:09.048
And the primary challenge we face is indeed to demonstrate that by utilizing a general-purpose tool,

124
00:06:09.368 --> 00:06:10.909
which is genome sequencing,

125
00:06:11.709 --> 00:06:16.593
a single comprehensive test could allow us to screen for several hundred genetic diseases.

126
00:06:17.834 --> 00:06:18.194
Currently,

127
00:06:18.214 --> 00:06:20.816
we have a list of diseases that are considered treatable.

128
00:06:21.076 --> 00:06:22.597
There are a little over 400.

129
00:06:23.073 --> 00:06:24.934
and others that are considered actionable,

130
00:06:25.234 --> 00:06:27.295
of which there are also a little over 400,

131
00:06:27.635 --> 00:06:28.755
and these will be optional.

132
00:06:30.276 --> 00:06:34.258
The main idea here is to be able to keep up with the comprehensive list,

133
00:06:34.678 --> 00:06:37.419
which is gradually and consistently increasing,

134
00:06:38.139 --> 00:06:40.840
of diseases that are treatable or manageable,

135
00:06:40.900 --> 00:06:43.621
which can improve the quality of life for children,

136
00:06:44.442 --> 00:06:47.543
so that we can screen for them earlier.

137
00:06:48.283 --> 00:06:52.165
Because the primary objective is to prevent the possibility of the disease becoming apparent.

138
00:06:52.813 --> 00:06:54.114
and being treated far too late.

139
00:06:54.534 --> 00:06:54.894
Exactly.

140
00:06:55.774 --> 00:06:57.375
It's about acting as early as possible.

141
00:06:57.975 --> 00:06:58.435
For instance,

142
00:06:58.455 --> 00:07:03.417
the example I gave you earlier about phenylketonuria that could be detected by other means,

143
00:07:03.577 --> 00:07:04.118
not genetic,

144
00:07:04.178 --> 00:07:05.538
but biochemical methods.

145
00:07:06.539 --> 00:07:09.420
And now we have one truly emblematic example,

146
00:07:09.940 --> 00:07:12.121
is spinal muscular atrophy in infants,

147
00:07:12.561 --> 00:07:14.522
which can only be detected through genetics.

148
00:07:15.042 --> 00:07:18.383
This is a disease that was previously thought to be completely untreatable,

149
00:07:19.144 --> 00:07:22.365
but it is now treated by a completely revolutionary gene therapy.

150
00:07:23.861 --> 00:07:29.202
And it was clearly demonstrated that if this gene therapy was administered immediately after birth,

151
00:07:29.323 --> 00:07:32.623
the children no longer developed the symptoms of the disease,

152
00:07:33.404 --> 00:07:37.505
which would otherwise inevitably lead to death within the first year of life.

153
00:07:38.425 --> 00:07:39.405
And so from there,

154
00:07:39.545 --> 00:07:43.806
the idea was that these kinds of examples would become more and more common,

155
00:07:44.847 --> 00:07:47.647
and that it was of the utmost importance to anticipate this,

156
00:07:48.428 --> 00:07:53.009
and develop a reliable methodology to detect these diseases at the earliest possible stage.

157
00:07:53.677 --> 00:07:55.378
because once the symptoms have started,

158
00:07:56.219 --> 00:07:58.580
they frequently become completely irreversible.

159
00:07:59.021 --> 00:07:59.221
Okay.

160
00:07:59.501 --> 00:07:59.981
So in fact,

161
00:08:00.001 --> 00:08:05.165
we realize that these are public health issues because it's about preventing vulnerable children,

162
00:08:05.405 --> 00:08:06.005
families,

163
00:08:06.025 --> 00:08:10.509
and individuals from having to live in such difficult conditions with the disease.

164
00:08:11.189 --> 00:08:11.509
Yes.

165
00:08:11.950 --> 00:08:16.513
We still have to realize that it won't always be the case that we'll have exceptional situations,

166
00:08:16.893 --> 00:08:20.315
like phenylketonuria or infantile spinal muscular atrophy,

167
00:08:20.776 --> 00:08:22.777
where we will be able to stop the disease.

168
00:08:23.873 --> 00:08:29.316
There will be cases where we won't be able to completely prevent the onset of the disease,

169
00:08:29.636 --> 00:08:30.497
but in any case,

170
00:08:30.997 --> 00:08:34.659
we can significantly reduce the damage the disease can cause.

171
00:08:35.339 --> 00:08:35.619
Okay.

172
00:08:36.240 --> 00:08:37.380
Can we have some numbers?

173
00:08:37.500 --> 00:08:40.942
How many patients does this concern in the end in France?

174
00:08:41.162 --> 00:08:50.327
The numerical data provided in the list of pathologies that we currently want to screen for are not yet known because we have a partnership with the National Data Bank,

175
00:08:50.667 --> 00:08:51.368
Rare Diseases,

176
00:08:51.628 --> 00:08:53.329
precisely to try to identify them.

177
00:08:54.097 --> 00:08:55.578
As an order of magnitude,

178
00:08:55.618 --> 00:08:57.559
we estimate that approximately 2%

179
00:08:58.039 --> 00:09:03.742
of the newborns who undergo screening will be affected by one of these medical pathologies.

180
00:09:04.403 --> 00:09:08.325
We have this data based on international projects that have already started.

181
00:09:09.486 --> 00:09:14.949
There are approximately 20 different international projects currently being developed around the world,

182
00:09:15.729 --> 00:09:19.091
all of which we are monitoring and following very closely at this very moment.

183
00:09:20.332 --> 00:09:21.833
So out of these 20,

184
00:09:22.253 --> 00:09:22.493
not...

185
00:09:22.713 --> 00:09:24.094
all have started yet,

186
00:09:24.434 --> 00:09:25.475
but some have,

187
00:09:25.955 --> 00:09:27.016
particularly in China,

188
00:09:27.076 --> 00:09:28.077
the United States,

189
00:09:28.097 --> 00:09:28.777
and Australia.

190
00:09:29.338 --> 00:09:30.378
And in these projects,

191
00:09:30.438 --> 00:09:30.718
indeed,

192
00:09:30.778 --> 00:09:32.640
we can see that this screening,

193
00:09:33.360 --> 00:09:37.003
now we're not dealing with exactly the same number of diseases being screened,

194
00:09:37.083 --> 00:09:39.865
but we're somewhere between two and three percent,

195
00:09:40.025 --> 00:09:42.446
depending on the total number of pathologies screened,

196
00:09:42.807 --> 00:09:46.529
would be detected with this expansion of newborn screening.

197
00:09:47.550 --> 00:09:52.233
I'd like to take a brief moment right now to explain this in more general term so

198
00:09:52.533 --> 00:09:55.384
everyone watching can fully understand what it means.

199
00:09:56.443 --> 00:10:02.687
Does this mean these tests could be made available to every single person or is it based on family history,

200
00:10:02.847 --> 00:10:03.668
on the parents?

201
00:10:04.549 --> 00:10:08.031
How should we comprehend and evaluate these newborn tests?

202
00:10:09.472 --> 00:10:12.834
So these newborn tests are really offered to all newborns.

203
00:10:13.835 --> 00:10:17.898
Current newborn screening is offered to all newborns in this pilot phase.

204
00:10:17.938 --> 00:10:20.620
It will depend on the hospitals that participate.

205
00:10:21.120 --> 00:10:21.981
So for phase one,

206
00:10:22.021 --> 00:10:25.163
we're talking about five university hospitals in France.

207
00:10:25.691 --> 00:10:26.091
Dijon,

208
00:10:26.291 --> 00:10:26.871
Besson,

209
00:10:27.071 --> 00:10:27.472
Rennes,

210
00:10:27.612 --> 00:10:28.072
Nantes,

211
00:10:28.332 --> 00:10:28.952
and Angers.

212
00:10:29.812 --> 00:10:30.933
And then afterwards,

213
00:10:30.973 --> 00:10:34.974
the idea is to have an expansion phase at the regional level.

214
00:10:36.254 --> 00:10:38.115
And then eventually,

215
00:10:38.435 --> 00:10:39.375
depending on the results,

216
00:10:39.376 --> 00:10:41.335
to be able to roll it out across all of France,

217
00:10:41.756 --> 00:10:43.936
integrated into the standard newborn screening.

218
00:10:44.496 --> 00:10:44.796
All right.

219
00:10:45.297 --> 00:10:48.958
So that means these could be genetic anomalies that aren't necessarily hereditary,

220
00:10:49.018 --> 00:10:50.578
that can occur spontaneously.

221
00:10:51.258 --> 00:10:53.579
It's not necessarily related to what we're talking about.

222
00:10:54.115 --> 00:10:56.537
So regarding genetic tests nowadays,

223
00:10:56.597 --> 00:10:58.618
we have specialized genetic centers,

224
00:10:59.158 --> 00:11:00.519
like the place where I work.

225
00:11:01.020 --> 00:11:08.585
We receive and consult with people every day who either have genetic diseases or have a family history of genetic diseases.

226
00:11:09.465 --> 00:11:17.531
So offering genetic tests in these specific situations is something that has existed routinely since the very beginning.

227
00:11:18.732 --> 00:11:22.394
So it's an important and well-organized access when there is something.

228
00:11:22.474 --> 00:11:22.774
Yes,

229
00:11:23.195 --> 00:11:23.595
exactly.

230
00:11:23.931 --> 00:11:25.112
That is precisely the point.

231
00:11:25.872 --> 00:11:25.992
So,

232
00:11:26.452 --> 00:11:27.112
up until now,

233
00:11:27.373 --> 00:11:29.093
when we first started this discussion,

234
00:11:29.273 --> 00:11:32.435
we were talking about whether genetics was merely a niche interest.

235
00:11:33.215 --> 00:11:34.416
For quite some time indeed,

236
00:11:34.516 --> 00:11:38.077
genetics was almost exclusively linked to the study of rare diseases.

237
00:11:38.878 --> 00:11:41.439
Many people felt that it didn't concern them personally,

238
00:11:41.619 --> 00:11:42.519
even though in the end,

239
00:11:42.679 --> 00:11:46.761
genetic diseases can occur in virtually any individual at any time.

240
00:11:47.561 --> 00:11:50.863
Many medical conditions arise without any prior family history.

241
00:11:51.803 --> 00:11:56.646
And what is truly changing right now indeed is that with the arrival of modern genomics,

242
00:11:57.186 --> 00:12:02.389
specifically through completely revolutionary high-throughput sequencing technologies,

243
00:12:02.889 --> 00:12:05.851
which allow us to sequence our entire human genome,

244
00:12:06.391 --> 00:12:11.514
we are significantly broadening the overall scope of genetics and genomics much further than ever before,

245
00:12:12.194 --> 00:12:14.636
since we are now going to use these advanced tests,

246
00:12:15.036 --> 00:12:15.516
including,

247
00:12:15.536 --> 00:12:16.197
for example,

248
00:12:16.357 --> 00:12:19.258
two specifically tailored treatments in the field of cancer.

249
00:12:19.979 --> 00:12:20.439
And indeed,

250
00:12:21.359 --> 00:12:24.021
Given the incredible capabilities of these new technologies,

251
00:12:24.481 --> 00:12:28.903
we are now seriously considering actually adapting them for the purpose of disease prevention.

252
00:12:30.284 --> 00:12:34.766
So we are starting to talk about genetic tests for common diseases,

253
00:12:35.167 --> 00:12:38.348
since there may be genetic predispositions to many illnesses,

254
00:12:38.448 --> 00:12:39.749
such as high blood pressure,

255
00:12:40.269 --> 00:12:41.050
diabetes,

256
00:12:41.490 --> 00:12:42.010
and so on.

257
00:12:42.631 --> 00:12:46.072
And now for prevention programs like PERIGENOMED,

258
00:12:46.793 --> 00:12:50.535
currently the only project that is in the pipeline.

259
00:12:50.775 --> 00:12:52.075
currently in France,

260
00:12:52.576 --> 00:13:04.439
is focused on newborn screening because that's probably where there is the most urgency and also where we need to keep up with international competitiveness in the field.

261
00:13:05.060 --> 00:13:15.183
This effort aims to try to actually reduce the heavy burden of certain rare diseases that affect young children and can be extremely difficult for families to cope with.

262
00:13:15.611 --> 00:13:20.313
What is already being discussed at international conferences is in fact what comes next,

263
00:13:20.393 --> 00:13:23.695
which could potentially occur at several different stages of life.

264
00:13:24.475 --> 00:13:28.197
The interest in genome screening according to reproductive plans,

265
00:13:28.237 --> 00:13:31.339
what is commonly known as preconceptional diagnosis,

266
00:13:31.759 --> 00:13:34.520
which is currently not authorized by law in France,

267
00:13:34.880 --> 00:13:38.542
and also later on for the prevention of various other health risks.

268
00:13:39.302 --> 00:13:40.503
So to speak more concretely,

269
00:13:41.115 --> 00:13:44.376
When a treatment is finally put in place following a diagnosis,

270
00:13:44.536 --> 00:13:46.597
what exactly are the steps that take place?

271
00:13:47.457 --> 00:13:48.457
Once the child is born,

272
00:13:48.877 --> 00:13:51.578
how does the medical management actually work in practice?

273
00:13:51.978 --> 00:13:57.680
Medical treatment is implemented immediately following the moment a diagnosis of a rare disease has been confirmed.

274
00:13:57.1000 --> 00:13:59.280
That is an essential point,

275
00:13:59.380 --> 00:13:59.600
really.

276
00:14:00.020 --> 00:14:02.901
The issue of diagnosis remains at the heart of our concerns.

277
00:14:03.521 --> 00:14:04.361
And then afterwards,

278
00:14:04.401 --> 00:14:06.662
there needs to be a treatment that actually exists.

279
00:14:06.902 --> 00:14:07.022
Now,

280
00:14:07.142 --> 00:14:07.802
as for treatment,

281
00:14:07.803 --> 00:14:09.343
we always have more symptomatic treatments.

282
00:14:10.223 --> 00:14:12.345
Support options can be offered,

283
00:14:12.465 --> 00:14:18.589
but treatment is intended to target the specific progression of the disease.

284
00:14:19.009 --> 00:14:22.372
We still have very few rare diseases that are in this situation.

285
00:14:22.812 --> 00:14:25.253
It is estimated that we have only about 5%

286
00:14:25.594 --> 00:14:25.914
of them.

287
00:14:27.215 --> 00:14:28.055
On the other hand,

288
00:14:28.276 --> 00:14:31.618
there is a very large number of therapeutic trials in this field,

289
00:14:32.118 --> 00:14:35.541
which really suggest the possibility of significant progress.

290
00:14:36.181 --> 00:14:39.003
And that is really the heart of the PERIGENOMED project.

291
00:14:39.103 --> 00:14:40.904
because if we had very few treatments,

292
00:14:40.944 --> 00:14:43.086
we wouldn't be talking about neonatal screening.

293
00:14:43.486 --> 00:14:44.387
So indeed,

294
00:14:44.647 --> 00:14:49.291
obtaining a clear answer and having a diagnosis of rare diseases very early,

295
00:14:49.811 --> 00:14:52.954
since with this project the idea is to provide an answer,

296
00:14:53.054 --> 00:14:56.537
a possible diagnosis of rare diseases within the first month of life,

297
00:14:57.077 --> 00:14:59.539
is something that can be viewed as being highly debatable.

298
00:15:00.318 --> 00:15:05.060
And that's why it is absolutely essential to have proven and effective medical treatments available,

299
00:15:05.520 --> 00:15:08.141
because receiving a diagnosis at only one month old,

300
00:15:08.421 --> 00:15:09.522
in a very early stage,

301
00:15:10.262 --> 00:15:11.062
right in the middle of,

302
00:15:11.122 --> 00:15:11.523
let's say,

303
00:15:11.583 --> 00:15:14.124
the establishment of the parent-child relationship,

304
00:15:14.364 --> 00:15:17.085
and not necessarily something that would be ideal.

305
00:15:17.985 --> 00:15:29.710
And so it is only acceptable if indeed we can offer family-specific treatments that will provide a meaningful difference and will effectively prevent the whole long period of diagnostic wandering.

306
00:15:30.466 --> 00:15:32.367
So the main purpose of this entire project,

307
00:15:32.368 --> 00:15:33.207
to be very clear,

308
00:15:33.287 --> 00:15:35.187
is to make a formal diagnosis.

309
00:15:36.068 --> 00:15:37.228
Once the child is born,

310
00:15:37.368 --> 00:15:38.348
or even before that,

311
00:15:38.428 --> 00:15:39.709
when it is still in utero,

312
00:15:40.169 --> 00:15:41.309
just to be perfectly clear.

313
00:15:42.090 --> 00:15:44.710
Does it depend significantly on the specific case?

314
00:15:45.030 --> 00:15:46.191
At this point in time,

315
00:15:46.531 --> 00:15:47.071
in utero,

316
00:15:47.211 --> 00:15:54.993
the circumstances where we can perform a genetic diagnosis are when there are ultrasound signs that strongly suggest a genetic disease.

317
00:15:55.654 --> 00:15:56.974
In this particular case,

318
00:15:57.590 --> 00:15:58.351
We also have,

319
00:15:58.451 --> 00:16:00.413
as a standard part of routine medical care,

320
00:16:01.113 --> 00:16:02.695
access to genetic analyses,

321
00:16:03.375 --> 00:16:06.338
including sequencing all of our individual genes,

322
00:16:07.078 --> 00:16:15.846
to try to reach a definitive diagnosis during pregnancy so that the parents can make a choice if it turns out to be a particularly serious condition.

323
00:16:16.086 --> 00:16:17.968
So if tests are done during pregnancy,

324
00:16:18.949 --> 00:16:20.850
if there is an ultrasound warning sign,

325
00:16:21.131 --> 00:16:24.734
parents may have the choice to continue or not with the pregnancy.

326
00:16:25.494 --> 00:16:25.994
However,

327
00:16:26.115 --> 00:16:35.502
we are not currently discussing a formal prevention program except for the measures that are already in place for Down syndrome within organized screening programs.

328
00:16:37.064 --> 00:16:40.567
We're not talking about genome sequencing for all pregnancies.

329
00:16:41.287 --> 00:16:41.567
Okay.

330
00:16:42.088 --> 00:16:45.891
It's clear that we're touching on a lot of highly sensitive topics.

331
00:16:46.371 --> 00:16:48.113
Topics related to technology,

332
00:16:48.633 --> 00:16:50.155
topics related to ethics,

333
00:16:50.755 --> 00:16:54.098
topics related to the funding of these new treatments.

334
00:16:54.654 --> 00:16:57.035
I would be curious to know how you approach this,

335
00:16:57.155 --> 00:16:58.696
how you look at and read all these.

336
00:16:58.876 --> 00:17:01.497
I imagine you don't necessarily have answers for everything,

337
00:17:01.537 --> 00:17:03.278
but how do you propose solutions?

338
00:17:04.098 --> 00:17:06.780
Since the arrival of high-throughput sequencing,

339
00:17:06.880 --> 00:17:08.140
let's say in France,

340
00:17:09.661 --> 00:17:13.583
that was the moment when we first started utilizing these genomic techniques.

341
00:17:13.803 --> 00:17:14.883
Back during that period,

342
00:17:14.923 --> 00:17:20.966
there was some hesitation and genuine concerns from a number of individuals regarding these technologies.

343
00:17:21.794 --> 00:17:26.436
which can also uncover various types of information that we are not specifically looking for.

344
00:17:26.676 --> 00:17:28.617
And so right here in Dijon,

345
00:17:28.837 --> 00:17:33.599
we actually set up a university hospital federation to address these complex questions.

346
00:17:34.559 --> 00:17:37.480
It was our colleagues who raised the truly ethical,

347
00:17:37.620 --> 00:17:40.261
organizational and economic questions,

348
00:17:40.982 --> 00:17:44.283
which made it possible to bring together many other disciplines.

349
00:17:45.784 --> 00:17:47.544
And that was something quite original,

350
00:17:48.425 --> 00:17:50.506
because before in the field of medicine,

351
00:17:50.526 --> 00:17:51.526
we weren't used to it.

352
00:17:52.446 --> 00:17:56.449
especially working with researchers in the humanities and social sciences.

353
00:17:57.549 --> 00:18:05.754
And we actually found experts who were interested in this particular topic who didn't necessarily know about it at first to answer all these questions.

354
00:18:06.234 --> 00:18:13.238
And that's really an aspect that has been fascinating throughout this journey and still is because there are still so many questions.

355
00:18:13.779 --> 00:18:19.042
It's about getting support and as a result learning and developing a taste for all of this.

356
00:18:19.630 --> 00:18:23.694
to answer these questions and develop specific projects around ETI,

357
00:18:24.374 --> 00:18:25.835
organizational aspects,

358
00:18:26.116 --> 00:18:27.157
economic factors,

359
00:18:27.317 --> 00:18:27.817
and so on.

360
00:18:28.278 --> 00:18:28.878
So in fact,

361
00:18:28.938 --> 00:18:30.740
your core business is genetics,

362
00:18:30.800 --> 00:18:31.580
diagnostics,

363
00:18:31.680 --> 00:18:33.322
looking at the science of genes.

364
00:18:34.503 --> 00:18:38.206
And then there are all the questions that patients,

365
00:18:38.306 --> 00:18:38.947
families,

366
00:18:39.007 --> 00:18:42.430
or even the doctors who will be treating them might have.

367
00:18:43.270 --> 00:18:43.631
Exactly.

368
00:18:43.691 --> 00:18:44.431
And our society,

369
00:18:44.451 --> 00:18:45.893
our various supervisory bodies,

370
00:18:45.913 --> 00:18:46.353
and so on.

371
00:18:46.894 --> 00:18:47.134
Because

372
00:18:47.710 --> 00:18:54.475
It is certainly true that in the aftermath it raises real questions about knowing what we need to implement in routine care,

373
00:18:54.655 --> 00:18:54.915
how,

374
00:18:55.015 --> 00:18:55.676
at what cost,

375
00:18:56.476 --> 00:18:58.017
and what important choices to make.

376
00:18:58.317 --> 00:19:00.279
And how do you start to answer these questions?

377
00:19:01.319 --> 00:19:02.981
What are the guidelines you're following right now?

378
00:19:03.421 --> 00:19:05.002
So from an ethical standpoint,

379
00:19:05.042 --> 00:19:07.083
if we're talking about genomics in general,

380
00:19:07.163 --> 00:19:10.666
it's very much about the issue of what we call incidental findings.

381
00:19:11.166 --> 00:19:12.587
So everything we can learn,

382
00:19:12.727 --> 00:19:15.709
everything we might stumble upon,

383
00:19:15.829 --> 00:19:16.330
let's say.

384
00:19:16.830 --> 00:19:18.831
when sequencing the genome for,

385
00:19:19.171 --> 00:19:19.791
for example,

386
00:19:19.871 --> 00:19:21.792
diagnosing rare diseases,

387
00:19:22.353 --> 00:19:27.455
and which could provide information about genetic predisposition to cancer,

388
00:19:27.855 --> 00:19:29.136
to cardiac arrhythmias,

389
00:19:29.756 --> 00:19:33.258
and which was not the question the individuals were seeking answers to.

390
00:19:34.358 --> 00:19:38.620
And it's true that this is something that is a huge debate in France,

391
00:19:38.680 --> 00:19:41.782
which is not necessarily shared everywhere internationally.

392
00:19:42.598 --> 00:19:43.739
In the United States,

393
00:19:43.759 --> 00:19:44.439
for example,

394
00:19:44.539 --> 00:19:47.301
it's considered an opportunity because it allows for prevention.

395
00:19:48.361 --> 00:19:49.002
And in France,

396
00:19:49.822 --> 00:19:59.407
there is a significant and growing social movement that believes we are indeed providing information that people did not necessarily wish to receive in the first place.

397
00:19:59.908 --> 00:20:01.448
Even if there is formal consent,

398
00:20:01.549 --> 00:20:04.070
the idea is that by asking them the question,

399
00:20:05.226 --> 00:20:09.809
they might feel they do not truly possess the genuine freedom or choice to say no,

400
00:20:10.809 --> 00:20:12.070
even though in reality,

401
00:20:13.170 --> 00:20:16.032
the vast majority of French citizens and residents,

402
00:20:16.352 --> 00:20:18.093
whether living in France or elsewhere,

403
00:20:18.153 --> 00:20:21.135
do ultimately consent to receiving this information.

404
00:20:22.295 --> 00:20:25.797
So this is truly the primary debate in routine care.

405
00:20:26.678 --> 00:20:29.039
And then regarding newborn screening,

406
00:20:29.099 --> 00:20:31.040
which we touched on just a little bit earlier,

407
00:20:31.120 --> 00:20:34.062
it's really about we are looking to see whether it.

408
00:20:34.742 --> 00:20:43.630
those families who have already received a result will be satisfied to have gotten an earlier result than they expected.

409
00:20:43.990 --> 00:20:47.913
Because it's difficult to understand for the consent phase for individuals.

410
00:20:48.954 --> 00:20:49.775
It's complicated,

411
00:20:49.795 --> 00:20:50.395
as we can see,

412
00:20:50.435 --> 00:20:52.117
to understand all these aspects.

413
00:20:53.138 --> 00:20:58.762
So we know that the way people choose to respond to different situations is not always necessarily measured,

414
00:20:59.143 --> 00:21:03.086
which essentially means that people won't necessarily realize you

415
00:21:03.418 --> 00:21:06.259
the consequences of the potential consequences.

416
00:21:07.160 --> 00:21:10.321
There are so many diseases that we can't explain them all,

417
00:21:10.401 --> 00:21:15.123
and in some cases they might even think that they would have preferred to receive a diagnosis later.

418
00:21:15.943 --> 00:21:17.584
So that's an important point,

419
00:21:17.664 --> 00:21:19.044
and then there's another point,

420
00:21:19.625 --> 00:21:20.645
a bit related,

421
00:21:20.765 --> 00:21:23.786
which is that while these technologies are precise,

422
00:21:23.826 --> 00:21:27.028
we still can't interpret everything perfectly.

423
00:21:28.428 --> 00:21:32.550
And there's a small risk that we might raise an unnecessary alarm.

424
00:21:33.282 --> 00:21:35.723
This already happens in standard neonatal screening,

425
00:21:36.443 --> 00:21:41.265
that we might alert people about a potential rare disease that ultimately won't be confirmed later.

426
00:21:41.986 --> 00:21:43.306
So as a result,

427
00:21:43.406 --> 00:21:44.507
these are debates,

428
00:21:44.647 --> 00:21:46.188
ongoing discussions,

429
00:21:46.328 --> 00:21:46.668
right?

430
00:21:47.468 --> 00:21:47.648
Yes,

431
00:21:47.668 --> 00:21:49.389
and that's what we need to demonstrate with the pilots.

432
00:21:51.030 --> 00:21:57.152
So it's in the pilot projects that we've been able to launch within our University Hospital Federation that we'll address this.

433
00:21:58.373 --> 00:21:59.333
We have questions,

434
00:21:59.513 --> 00:22:01.054
we have a very solid rationale.

435
00:22:01.314 --> 00:22:03.215
several serious concerns have been raised,

436
00:22:03.975 --> 00:22:06.936
technical questions as well and broader economic questions.

437
00:22:08.076 --> 00:22:10.417
We're going to implement a pilot project to address them.

438
00:22:11.017 --> 00:22:18.399
And so I guess technology too has a role to play in being more precise or help to better answer these questions?

439
00:22:19.019 --> 00:22:19.459
Yes,

440
00:22:20.679 --> 00:22:21.720
so on that point,

441
00:22:22.500 --> 00:22:24.920
the international community plays a big role.

442
00:22:25.561 --> 00:22:29.502
What we will learn from interpreting variants is a huge challenge,

443
00:22:29.742 --> 00:22:30.502
that's for sure.

444
00:22:30.934 --> 00:22:32.815
artificial intelligence also comes into play.

445
00:22:33.155 --> 00:22:41.839
And everyone needs to contribute so that our understanding of pathological and non-pathological variants increases because we each have,

446
00:22:42.319 --> 00:22:43.999
in the coding regions of our genes,

447
00:22:44.179 --> 00:22:46.660
about 20,000 differences from one another.

448
00:22:47.061 --> 00:22:50.102
If we even consider the genome and the non-coding regions,

449
00:22:51.062 --> 00:22:53.223
there are actually significantly more than that.

450
00:22:53.263 --> 00:22:56.585
We estimate there are approximately 3 billion base pairs,

451
00:22:57.305 --> 00:23:00.006
and that means that within our entire genetic code,

452
00:23:00.410 --> 00:23:05.391
Finding the right variations that will explain the pathology is a complex and difficult challenge.

453
00:23:05.772 --> 00:23:11.713
So we have classifications of variations that can be mutations classified as pathogenic.

454
00:23:12.053 --> 00:23:12.833
In those cases,

455
00:23:12.874 --> 00:23:13.854
we can be confident,

456
00:23:13.874 --> 00:23:14.454
so to speak.

457
00:23:14.854 --> 00:23:18.315
Then others are likely pathogenic with minor error risk.

458
00:23:18.815 --> 00:23:19.075
Next,

459
00:23:19.115 --> 00:23:21.696
there are many uncertain significance variants,

460
00:23:21.756 --> 00:23:22.896
and we have a lot of those.

461
00:23:23.637 --> 00:23:24.637
And then after that,

462
00:23:24.697 --> 00:23:27.057
there are probably benign or benign variants.

463
00:23:29.078 --> 00:23:33.700
we are not able to interpret all the variants and classify them all properly as we should.

464
00:23:34.280 --> 00:23:41.003
We have many variants of uncertain significance and variants that are probably pathogenic or that we think are...

465
00:23:41.483 --> 00:23:45.205
So currently in France we have a France Genomic Medicine Plan.

466
00:23:45.685 --> 00:23:58.610
This system includes two genome analysis platforms which are open access and to which we send our genome analyses when we see a patient at a genetic center in France and these platforms

467
00:23:59.946 --> 00:24:05.329
are effectively equipped with software that helps with variant classification and diagnosis.

468
00:24:06.149 --> 00:24:12.852
And it's true that very often the diagnosis retained is among the medical diagnoses,

469
00:24:13.532 --> 00:24:15.973
ranked as first line by the software.

470
00:24:16.914 --> 00:24:17.714
And just to be clear,

471
00:24:18.234 --> 00:24:25.818
that means you will carry out an initial comprehensive phase of the project based on the extensive preliminary research and data collection you have already done.

472
00:24:26.318 --> 00:24:32.982
That means it aligns perfectly and integrates seamlessly into what is essentially a broader strategic framework of our national health policy.

473
00:24:33.483 --> 00:24:33.763
Yes,

474
00:24:34.583 --> 00:24:35.644
and in any case,

475
00:24:35.744 --> 00:24:39.587
the PERIGENOMED project is considered the national pilot project.

476
00:24:39.747 --> 00:24:46.931
It focuses on this issue with a genuine federation of all stakeholders involved in genomic medicine.

477
00:24:47.532 --> 00:24:51.174
It is truly a comprehensive project that was carefully designed and developed.

478
00:24:51.726 --> 00:24:56.492
in close collaboration with all the key stakeholders across France involved in newborn screening,

479
00:24:56.993 --> 00:24:58.014
healthcare networks,

480
00:24:58.535 --> 00:24:59.316
rare diseases,

481
00:24:59.576 --> 00:25:00.537
genomic medicine,

482
00:25:00.978 --> 00:25:04.082
patient associations and many other essential partners.

483
00:25:04.571 --> 00:25:07.734
The current idea we have is to effectively be able to,

484
00:25:08.214 --> 00:25:08.975
at this stage,

485
00:25:09.075 --> 00:25:19.104
move forward with the pilot deployment project to see if it is feasible on a larger scale because this first phase will take place at the university hospitals,

486
00:25:19.384 --> 00:25:20.005
CHUs.

487
00:25:20.685 --> 00:25:21.806
University hospitals,

488
00:25:21.866 --> 00:25:22.427
CHUs,

489
00:25:22.467 --> 00:25:31.535
are used to conducting research and we need to see how this could be integrated in terms of information into all the maternity wards.

490
00:25:32.691 --> 00:25:34.392
Because in this first phase,

491
00:25:34.472 --> 00:25:37.134
there will be people present to inform couples,

492
00:25:37.494 --> 00:25:42.617
spending about 20 minutes with them to explain the project and to obtain their consent.

493
00:25:43.758 --> 00:25:49.442
And this is probably something that will be impossible to maintain in all the maternity wards in France.

494
00:25:50.503 --> 00:25:53.505
So this second phase will need to be more,

495
00:25:53.905 --> 00:25:54.305
let's say,

496
00:25:54.485 --> 00:25:57.207
integrated into the real world of screening.

497
00:25:57.607 --> 00:25:58.448
And as a result,

498
00:25:58.588 --> 00:26:02.931
it's a real challenge with all the aspects that will also need to be demonstrated,

499
00:26:02.971 --> 00:26:04.412
including the cost of all this.

500
00:26:05.773 --> 00:26:06.373
There you have it.

501
00:26:06.814 --> 00:26:07.514
The technical,

502
00:26:07.674 --> 00:26:10.496
organizational and economic feasibility,

503
00:26:10.717 --> 00:26:12.838
which is the challenge of this second phase.

504
00:26:13.459 --> 00:26:20.043
We can see it's a mix between partly a driver of innovation and public health issues.

505
00:26:20.504 --> 00:26:21.845
There is also perhaps a wave,

506
00:26:21.865 --> 00:26:22.565
a momentum,

507
00:26:22.625 --> 00:26:24.847
which is linked to an explosion of technology or

508
00:26:25.331 --> 00:26:31.133
Maybe it's something you're seeing at the international level that there's a train to catch now?

509
00:26:32.713 --> 00:26:32.873
Yes,

510
00:26:32.933 --> 00:26:33.873
that is exactly it.

511
00:26:33.973 --> 00:26:35.934
So this train to catch,

512
00:26:36.014 --> 00:26:40.855
we've actually been feeling it for quite some time now around newborn screening within our Federation

513
00:26:41.656 --> 00:26:42.696
University Hospital.

514
00:26:43.016 --> 00:26:44.196
In 2019,

515
00:26:44.197 --> 00:26:45.637
we started to talk about it.

516
00:26:46.077 --> 00:26:50.878
The fact that the next pilot project to be implemented would be focused on neonatal screening.

517
00:26:51.798 --> 00:26:53.539
But I would say that at the time we didn't.

518
00:26:53.991 --> 00:26:58.532
We didn't yet have that example we talked about earlier of infantile spinal muscular atrophy.

519
00:27:00.193 --> 00:27:05.674
And the critical importance of very early diagnosis to change the progression of the disease.

520
00:27:06.474 --> 00:27:11.556
And that's why at that time it wasn't really feasible to set up a pilot project.

521
00:27:11.696 --> 00:27:13.916
And so we did the opposite of what we usually do.

522
00:27:14.197 --> 00:27:23.199
We started by setting up a humanities and social sciences project to study the acceptability among professionals and the general population.

523
00:27:23.599 --> 00:27:27.161
especially couples of childbearing age or those who had just had a child,

524
00:27:27.241 --> 00:27:28.862
to see what their expectations were.

525
00:27:29.742 --> 00:27:31.163
And the acceptability was good,

526
00:27:31.243 --> 00:27:31.683
very good.

527
00:27:32.324 --> 00:27:33.564
We're at approximately

528
00:27:33.905 --> 00:27:35.165
80 to 86%

529
00:27:36.806 --> 00:27:38.587
between professionals and couples.

530
00:27:39.308 --> 00:27:40.408
And at the same time,

531
00:27:40.528 --> 00:27:44.330
there were indeed notable advances at the international level,

532
00:27:44.770 --> 00:27:47.392
where we saw pilot projects being set up.

533
00:27:48.252 --> 00:27:49.693
And in parallel,

534
00:27:50.313 --> 00:27:52.995
as a result of this acceptability project called SEDEN,

535
00:27:53.507 --> 00:27:55.869
We thought that it was indeed the right moment.

536
00:27:56.810 --> 00:27:56.990
Well,

537
00:27:57.050 --> 00:28:01.653
I would really like to take a moment to do a very quick and thorough review of your work as a researcher.

538
00:28:02.254 --> 00:28:08.679
What would you like to say after all the lessons you've seen and for young researchers who want to follow in your footsteps?

539
00:28:08.839 --> 00:28:08.959
Well,

540
00:28:08.999 --> 00:28:11.801
I think first of all you have to keep following your convictions.

541
00:28:13.142 --> 00:28:14.703
I think that when you are convinced,

542
00:28:14.723 --> 00:28:16.545
you know how to convince others.

543
00:28:18.286 --> 00:28:19.247
Another key point.

544
00:28:19.879 --> 00:28:21.400
is to be surrounded by a strong,

545
00:28:21.480 --> 00:28:23.441
capable team that truly supports you.

546
00:28:23.961 --> 00:28:25.502
You can't do anything alone.

547
00:28:27.302 --> 00:28:29.663
Having a fully committed and reliable team,

548
00:28:29.783 --> 00:28:32.465
having a team that can respond quickly to our needs,

549
00:28:32.505 --> 00:28:36.206
because obviously we're not specialists or experts in every aspect,

550
00:28:36.286 --> 00:28:41.869
so you really need people who can cover a wide range of different areas effectively.

551
00:28:43.389 --> 00:28:47.151
And then you also need to know how to identify the necessary funding.

552
00:28:47.915 --> 00:28:51.057
Because if you don't have the funding to see things through,

553
00:28:51.917 --> 00:28:54.919
you will eventually find yourself blocked at some point.

554
00:28:57.161 --> 00:28:59.702
So I definitely think those are the main key points.

555
00:29:00.243 --> 00:29:01.223
If I may ask,

556
00:29:01.583 --> 00:29:07.607
have you ever thought that it might actually be easier for me to go work in the United States as a researcher there?

557
00:29:08.348 --> 00:29:08.928
The thing is,

558
00:29:09.388 --> 00:29:10.649
before being a researcher,

559
00:29:10.709 --> 00:29:13.771
I consider myself above all a clinical physician.

560
00:29:15.623 --> 00:29:20.306
And being a clinical physician in the United States isn't easy because there is no equivalency.

561
00:29:20.847 --> 00:29:23.048
So you can do it in other parts of Europe,

562
00:29:23.108 --> 00:29:24.950
but not in the United States.

563
00:29:25.750 --> 00:29:28.512
So you can be a researcher in the United States,

564
00:29:28.612 --> 00:29:30.754
but you can't just do consultations.

565
00:29:34.597 --> 00:29:36.078
Then in the United States,

566
00:29:36.138 --> 00:29:38.760
there are obviously advantages and disadvantages as well.

567
00:29:39.700 --> 00:29:40.201
Furthermore,

568
00:29:40.281 --> 00:29:43.403
we maintain a steadfast commitment to a policy of excellence.

569
00:29:43.623 --> 00:29:44.965
which is a heavy burden to bear,

570
00:29:45.206 --> 00:29:47.790
even if we set a policy of excellence for ourselves.

571
00:29:48.251 --> 00:29:49.493
It's not imposed by others.

572
00:29:51.256 --> 00:29:54.782
And having a policy of excellence imposed on you is complicated.

573
00:29:55.616 --> 00:30:05.339
We've had researchers sometimes who were at top universities and who weren't kept on at some point because they had a slight dip in their performance at some point in their lives.

574
00:30:05.959 --> 00:30:06.419
In France,

575
00:30:06.439 --> 00:30:08.380
we can live with that in our institutions.

576
00:30:08.640 --> 00:30:09.580
And in the United States,

577
00:30:09.600 --> 00:30:11.101
that's something that's not possible.

578
00:30:11.601 --> 00:30:13.761
So you have to weigh the pros and cons.

579
00:30:14.882 --> 00:30:16.982
Did you ever ask yourself that question at some point?

580
00:30:18.763 --> 00:30:18.903
Well,

581
00:30:21.504 --> 00:30:22.444
I would say yes and no.

582
00:30:24.140 --> 00:30:25.080
It's hard to explain.

583
00:30:25.220 --> 00:30:26.521
It's quite a complex subject,

584
00:30:26.581 --> 00:30:27.001
let's say.

585
00:30:27.421 --> 00:30:27.581
Yes,

586
00:30:27.642 --> 00:30:28.722
it's a complex subject.

587
00:30:29.162 --> 00:30:30.523
Especially in a field like this,

588
00:30:30.563 --> 00:30:31.223
in genetics,

589
00:30:31.323 --> 00:30:32.544
a lot more things happen.

590
00:30:33.484 --> 00:30:34.484
Or in other countries.

591
00:30:34.905 --> 00:30:35.285
Obviously,

592
00:30:35.345 --> 00:30:36.505
you looked at things differently.

593
00:30:36.985 --> 00:30:39.166
We were really lucky within our institution,

594
00:30:39.246 --> 00:30:39.486
really.

595
00:30:39.927 --> 00:30:40.707
That is to say,

596
00:30:41.587 --> 00:30:42.648
from the very beginning,

597
00:30:42.708 --> 00:30:46.189
we have been strongly supported in our genomics projects.

598
00:30:47.350 --> 00:30:52.752
Rare diseases have been a recognized research focus from the start within our institution.

599
00:30:53.740 --> 00:30:55.240
And that's something to take into account.

600
00:30:55.521 --> 00:30:55.821
That is,

601
00:30:55.861 --> 00:30:58.501
we can also clearly see what is happening elsewhere.

602
00:30:59.322 --> 00:31:02.923
Rare diseases are not always as well regarded in other institutions.

603
00:31:04.023 --> 00:31:04.503
And so

604
00:31:05.704 --> 00:31:09.965
I am not entirely convinced that when you are in such a positive dynamic,

605
00:31:10.785 --> 00:31:13.746
working closely together with our directors and deans,

606
00:31:14.546 --> 00:31:19.848
you would really feel the need to look elsewhere just to see if things are going well.

607
00:31:21.880 --> 00:31:25.543
I'd like to chat a bit about what the future of genomics might look like,

608
00:31:25.683 --> 00:31:26.123
I don't know,

609
00:31:26.243 --> 00:31:27.364
in five or ten years.

610
00:31:27.704 --> 00:31:28.364
In your opinion,

611
00:31:28.444 --> 00:31:29.585
how is it going to take shape?

612
00:31:29.745 --> 00:31:30.946
What is going to be put in place?

613
00:31:31.166 --> 00:31:32.387
How is it going to be organized?

614
00:31:32.667 --> 00:31:34.869
It's almost easier to answer for 20 years out,

615
00:31:34.969 --> 00:31:37.410
because five to ten years isn't actually that long.

616
00:31:37.971 --> 00:31:45.556
It is certainly true that discussions around prevention are of very great importance at this current moment within the international community.

617
00:31:47.832 --> 00:31:56.038
with the significant potential role of genome sequencing for proactive preventive healthcare purposes at different ages and stages of life.

618
00:31:57.799 --> 00:32:04.824
This is something that will surely be feasible because now a genome analysis is something we can obtain with new technologies.

619
00:32:05.264 --> 00:32:09.867
Around 200 to 250 euros with the new machines,

620
00:32:10.007 --> 00:32:11.268
not all of them of course,

621
00:32:11.629 --> 00:32:14.851
but this means it will be able to have a real place.

622
00:32:15.331 --> 00:32:16.192
probably with the

623
00:32:16.788 --> 00:32:18.289
improvement of our knowledge.

624
00:32:19.209 --> 00:32:28.573
So the possibility of having tests for preventive purposes is going to be a bit of the challenge for research in the coming years.

625
00:32:29.033 --> 00:32:30.774
This means that not only for you,

626
00:32:31.534 --> 00:32:34.996
what is newborn will inevitably happen and will be the first step,

627
00:32:35.456 --> 00:32:41.239
and then it's prevention measures at all ages of life for a wide range of more common pathologies.

628
00:32:42.319 --> 00:32:44.060
So I honestly would not be able to tell you.

629
00:32:45.012 --> 00:32:49.116
if this will inevitably occur for newborn screening programs,

630
00:32:49.796 --> 00:32:51.838
because the financial stakes are enormous.

631
00:32:53.639 --> 00:32:54.120
Right now,

632
00:32:54.300 --> 00:32:55.721
with standard newborn screening,

633
00:32:55.861 --> 00:32:57.663
we're only talking about a few dozen euros.

634
00:32:58.904 --> 00:33:02.547
If we were ever to integrate genomics into newborn screening,

635
00:33:02.587 --> 00:33:06.750
the cost would immediately jump to several hundred euros per newborn.

636
00:33:07.471 --> 00:33:11.254
And will France decide to embark on this policy or not,

637
00:33:11.735 --> 00:33:13.276
compared to other choices?

638
00:33:13.740 --> 00:33:15.061
Because that's the real issue.

639
00:33:15.641 --> 00:33:17.522
There will be this and then everything else.

640
00:33:18.342 --> 00:33:22.324
Healthcare is evolving and advances in health are happening everywhere.

641
00:33:23.984 --> 00:33:28.386
And there are various other screenings like those for cancers and others,

642
00:33:28.426 --> 00:33:31.007
which are still highly valued and respected in France.

643
00:33:31.747 --> 00:33:35.449
So will France already decide to fund a second phase?

644
00:33:36.169 --> 00:33:39.130
The answer is we simply don't know that yet at this moment.

645
00:33:39.891 --> 00:33:43.112
And then as for the decision to fund a full-scale rollout.

646
00:33:43.232 --> 00:33:45.413
that's something I don't have the answer to right now.

647
00:33:46.313 --> 00:33:46.773
Of course,

648
00:33:46.993 --> 00:33:51.955
that's exactly what we hope for if our pilot projects yield encouraging and positive results.

649
00:33:53.155 --> 00:33:55.596
Because if we are running pilot projects,

650
00:33:55.676 --> 00:34:01.698
it's really because there are questions that need to be answered and to see with the international community.

651
00:34:02.238 --> 00:34:09.520
A very real and significant point of discussion that is now starting to emerge among those working on more advanced projects.

652
00:34:10.216 --> 00:34:15.798
is whether we will actually be able to offer a comprehensive model that can be proposed to everyone.

653
00:34:16.178 --> 00:34:24.960
This is a major concern because what we see is that many different states won't necessarily be ready or willing to finance all of this extensive work on their own.

654
00:34:26.240 --> 00:34:27.661
And the potential danger,

655
00:34:28.141 --> 00:34:30.602
which is not generally the policy in France,

656
00:34:30.662 --> 00:34:38.604
is that these things might be made available exclusively to certain people who are able to afford these technological breakthroughs.

657
00:34:39.224 --> 00:34:40.285
and not to others.

658
00:34:41.306 --> 00:34:42.027
So if you prefer,

659
00:34:42.087 --> 00:34:43.369
go to different countries.

660
00:34:46.192 --> 00:34:46.312
So,

661
00:34:46.412 --> 00:34:47.093
for example,

662
00:34:47.133 --> 00:34:50.717
there are genetic tests that exist for preconception purposes,

663
00:34:51.178 --> 00:34:57.024
which are currently prohibited in France but are accessible in other nearby French-speaking countries.

664
00:34:57.485 --> 00:34:58.065
Nevertheless,

665
00:34:58.145 --> 00:35:00.168
very few people take advantage of them.

666
00:35:01.815 --> 00:35:03.536
They go to do these tests elsewhere,

667
00:35:03.716 --> 00:35:05.576
probably due to a lack of awareness as well.

668
00:35:05.716 --> 00:35:06.396
That is to say,

669
00:35:06.496 --> 00:35:07.797
when it comes to genetics,

670
00:35:07.997 --> 00:35:09.377
especially rare diseases,

671
00:35:09.877 --> 00:35:12.838
there is really this sense that it affects others and not me.

672
00:35:14.799 --> 00:35:15.499
In your opinion,

673
00:35:15.559 --> 00:35:20.000
what is the role of pharmaceutical companies in this developing ecosystem?

674
00:35:21.080 --> 00:35:24.421
Pharmaceutical companies play an incredibly vital role because,

675
00:35:24.501 --> 00:35:25.302
quite frankly,

676
00:35:25.462 --> 00:35:29.863
the comprehensive distribution and rollout of innovative medical treatments

677
00:35:30.403 --> 00:35:32.043
is largely in their hands.

678
00:35:32.684 --> 00:35:33.284
Furthermore,

679
00:35:33.544 --> 00:35:44.427
there have consistently been very high expectations placed upon these companies to provide substantial support for these critical newborn screening expansion projects.

680
00:35:46.748 --> 00:35:52.149
But for now they are not the ones who have decided to primarily fund these projects.

681
00:35:53.429 --> 00:35:53.950
However,

682
00:35:54.170 --> 00:35:59.131
they are more than welcome to help with co-financing as much as they possibly can.

683
00:35:59.943 --> 00:36:06.987
because I truly believe that we all stand to benefit immensely from seeing these projects reach their successful fruition.

684
00:36:08.568 --> 00:36:08.788
Okay,

685
00:36:08.848 --> 00:36:09.508
for you actually,

686
00:36:09.549 --> 00:36:10.669
if I understand correctly,

687
00:36:10.729 --> 00:36:20.855
this is a first step towards gaining a much deeper understanding of the things regarding these significant large-scale developments in genomic prevention?

688
00:36:22.059 --> 00:36:27.023
to be able to administer it to people who have very few symptoms or perhaps none at all,

689
00:36:27.163 --> 00:36:28.765
so that symptoms don't develop.

690
00:36:29.005 --> 00:36:30.106
And that's where

691
00:36:30.626 --> 00:36:33.429
I think pharmaceutical companies have really,

692
00:36:34.089 --> 00:36:38.273
should truly be a vital and core part of this medical journey.

693
00:36:38.973 --> 00:36:40.595
Because through newborn screening,

694
00:36:40.835 --> 00:36:43.437
we will be able to demonstrate that these treatments,

695
00:36:43.657 --> 00:36:45.559
when they are given as early as possible,

696
00:36:46.099 --> 00:36:49.162
are the most effective and beneficial for patients.

697
00:36:49.922 --> 00:36:50.383
Of course.

698
00:36:51.063 --> 00:36:54.427
we're often dealing with diseases that are very rare,

699
00:36:54.527 --> 00:36:57.049
which means that our pilot project,

700
00:36:57.870 --> 00:37:00.953
in phase two we're talking about roughly 20,000 newborns,

701
00:37:02.474 --> 00:37:08.020
and when we're dealing with a condition that affects one newborn out of 200,000,

702
00:37:08.881 --> 00:37:15.447
the natural reaction is indeed that the probability is you won't detect any cases of my condition.

703
00:37:16.347 --> 00:37:20.390
And so that's where I would say the international community comes in,

704
00:37:20.850 --> 00:37:27.335
because there is a real coming together of pilot projects internationally within a consensus called ICONS,

705
00:37:29.357 --> 00:37:34.901
which I would say altogether will allow us to actually detect certain conditions and not others.

706
00:37:35.901 --> 00:37:40.605
And I think we really need to see it as a fantastic network to fully demonstrate all of this.

707
00:37:41.666 --> 00:37:41.886
Okay.

708
00:37:42.946 --> 00:37:43.587
Thank you very much.

709
00:37:43.827 --> 00:37:57.518
This episode was truly fascinating as it helps us to better understand how the field of genomics is rapidly moving from a niche area of study to perhaps it is the very beginning of tomorrow's preventative medicine and future prevention.

710
00:37:58.699 --> 00:37:59.980
In this silent competition,

711
00:38:00.161 --> 00:38:00.921
timing matters.

712
00:38:00.961 --> 00:38:03.263
If the United States takes more risks,

713
00:38:03.603 --> 00:38:04.784
if China moves faster,

714
00:38:05.605 --> 00:38:07.046
can Europe afford to be cautious?

715
00:38:08.568 --> 00:38:09.588
In the next episode,

716
00:38:09.589 --> 00:38:12.611
we move from genomics to artificial intelligence.

717
00:38:12.771 --> 00:38:14.753
as AI is booming on a global scale.

718
00:38:15.633 --> 00:38:17.275
But even when research is excellent,

719
00:38:17.475 --> 00:38:19.116
access sometimes remains limited.

720
00:38:19.697 --> 00:38:20.918
And following this episode,

721
00:38:20.938 --> 00:38:22.039
I have a question for you.

722
00:38:22.479 --> 00:38:26.983
Should Europe prioritize ethical caution or speed up to stay competitive?