1 00:00:00,240 --> 00:00:03,060 Imagine this. You're at the Hyatt Regency Chicago 2 00:00:03,439 --> 00:00:06,000 immersed in insightful discussions with the health care 3 00:00:06,000 --> 00:00:09,939 industry's top leaders. Welcome to Becker's 12th annual 4 00:00:10,080 --> 00:00:10,580 CEO 5 00:00:10,880 --> 00:00:14,740 and CFO roundtable from November 11th to 14th 6 00:00:15,134 --> 00:00:15,634 2024. 7 00:00:16,175 --> 00:00:19,315 Picture yourself networking with over a 1000 executive 8 00:00:19,454 --> 00:00:20,275 level attendees, 9 00:00:20,734 --> 00:00:23,795 collecting business cards, and forging valuable connections. 10 00:00:24,255 --> 00:00:26,654 Feel the excitement as you engage in 4 11 00:00:26,654 --> 00:00:28,675 days of sessions featuring 400 12 00:00:29,135 --> 00:00:30,870 elite health system speakers. 13 00:00:31,429 --> 00:00:35,049 Envision yourself diving deep into critical topics like 14 00:00:35,109 --> 00:00:37,450 rural health care, digital transformation, 15 00:00:38,070 --> 00:00:40,409 health equity, and c suite diversity. 16 00:00:41,270 --> 00:00:44,729 Now imagine being inspired by our celebrity keynotes, 17 00:00:45,195 --> 00:00:48,234 pro football hall of famers Troy Aikman and 18 00:00:48,234 --> 00:00:52,075 Emmett Smith, 43rd president George w Bush, and 19 00:00:52,075 --> 00:00:55,435 author and journalist Jenna Bush Hager. Their stories 20 00:00:55,435 --> 00:00:56,495 will leave you motivated 21 00:00:56,875 --> 00:00:57,695 and energized. 22 00:00:58,234 --> 00:00:59,535 Don't miss this unparalleled 23 00:00:59,995 --> 00:01:00,495 opportunity. 24 00:01:00,990 --> 00:01:03,329 Get registered today. Visit beckershospitalreview.com 25 00:01:05,230 --> 00:01:06,989 and click on the events page to find 26 00:01:06,989 --> 00:01:08,129 the conference website. 27 00:01:08,510 --> 00:01:09,489 That's the beckershospitalreview.com 28 00:01:11,709 --> 00:01:13,729 events page. See you in Chicago. 29 00:01:14,924 --> 00:01:16,924 This is Laura Dierda with the Becker's Healthcare 30 00:01:16,924 --> 00:01:19,084 Podcast. I'm thrilled today to be joined by 31 00:01:19,084 --> 00:01:21,645 doctor Paul Kruska, who's a clinical geneticist at 32 00:01:21,645 --> 00:01:24,605 Children's National Hospital in Washington, DC. Doctor Kruska, 33 00:01:24,605 --> 00:01:25,645 it's a pleasure to have you on the 34 00:01:25,645 --> 00:01:26,545 podcast today. 35 00:01:27,299 --> 00:01:29,140 Yes. Thank you for having me. I really 36 00:01:29,140 --> 00:01:30,040 appreciate it. 37 00:01:30,579 --> 00:01:32,420 Now I'm looking forward to our discussion. I 38 00:01:32,420 --> 00:01:33,859 know there's so much happening in the health 39 00:01:33,859 --> 00:01:35,079 care space and in particular 40 00:01:35,620 --> 00:01:39,159 in, genomic testing, just really a fast moving 41 00:01:39,299 --> 00:01:41,459 field. But before we dive into the broader 42 00:01:41,459 --> 00:01:43,155 questions, can you tell us a little bit 43 00:01:43,155 --> 00:01:44,935 more about yourself and your background? 44 00:01:46,354 --> 00:01:46,854 Yes. 45 00:01:47,155 --> 00:01:48,135 I'm a physician, 46 00:01:48,594 --> 00:01:51,234 and I'm board certified in clinical genetics. This 47 00:01:51,234 --> 00:01:52,754 is a specialty that I find a lot 48 00:01:52,754 --> 00:01:54,594 of people don't know much about. We're a 49 00:01:54,594 --> 00:01:56,454 we're a small specialty, and 50 00:01:57,079 --> 00:01:59,020 and what we do is we diagnose 51 00:01:59,400 --> 00:02:01,980 and treat a large portion of rare diseases. 52 00:02:03,000 --> 00:02:04,680 I spend most of my time as chief 53 00:02:04,680 --> 00:02:07,079 medical officer at a company called GeneX. We 54 00:02:07,079 --> 00:02:08,300 do commercial testing, 55 00:02:09,240 --> 00:02:10,780 and I'm also a 56 00:02:11,205 --> 00:02:14,324 faculty member at Children's National Medical Center where 57 00:02:14,324 --> 00:02:17,125 I teach genetic residents, the next generation of 58 00:02:17,125 --> 00:02:17,625 clinical 59 00:02:17,925 --> 00:02:18,425 geneticists. 60 00:02:19,525 --> 00:02:22,004 And prior to GeneDx, I spent over a 61 00:02:22,004 --> 00:02:25,305 decade as a physician scientist researching rare diseases 62 00:02:26,000 --> 00:02:27,780 at the National Human Genome Research 63 00:02:28,080 --> 00:02:30,159 Institute, and that's one of the institutes 64 00:02:30,560 --> 00:02:33,060 National Institutes of Health in Bethesda, Maryland. 65 00:02:33,439 --> 00:02:36,319 So, really, my my professional career centered around 66 00:02:36,319 --> 00:02:37,219 helping families 67 00:02:37,520 --> 00:02:39,620 and patients affected by rare disease. 68 00:02:41,235 --> 00:02:43,235 That sounds like a fascinating role to play. 69 00:02:43,235 --> 00:02:45,395 And given your experience, what are some of 70 00:02:45,395 --> 00:02:48,114 the key developments in genomic testing over the 71 00:02:48,114 --> 00:02:49,495 last 5 years or so? 72 00:02:51,074 --> 00:02:53,290 Yes. The the the last the the last 73 00:02:53,290 --> 00:02:55,069 5 years have been fantastic 74 00:02:55,449 --> 00:02:55,949 for, 75 00:02:56,330 --> 00:02:58,590 for genetic testing and and really, 76 00:02:59,610 --> 00:03:01,790 for patients and and their families. 77 00:03:02,569 --> 00:03:03,069 And 78 00:03:03,370 --> 00:03:05,610 the the biggest change in the last 5 79 00:03:05,610 --> 00:03:08,165 years has been a dramatic shift to broad 80 00:03:08,165 --> 00:03:08,745 based testing 81 00:03:09,925 --> 00:03:12,344 with whole exome sequencing and whole genome 82 00:03:12,645 --> 00:03:13,145 sequencing. 83 00:03:14,004 --> 00:03:16,324 For your listeners not familiar with these tests, 84 00:03:16,324 --> 00:03:17,625 whole genome sequencing 85 00:03:18,004 --> 00:03:20,564 sequences our entire genetic code, if you can 86 00:03:20,564 --> 00:03:22,110 believe it. It's all 33,000,000,000 87 00:03:22,650 --> 00:03:23,950 base pairs of DNA, 88 00:03:25,210 --> 00:03:28,330 our our our genetic code. And whole exome 89 00:03:28,330 --> 00:03:28,830 sequencing 90 00:03:29,450 --> 00:03:32,010 focuses on the exome, which consists of the 91 00:03:32,010 --> 00:03:34,650 protein coding regions of the genome, and this 92 00:03:34,650 --> 00:03:36,430 is about 2% of our genome. 93 00:03:37,094 --> 00:03:38,955 Most disease causing variation 94 00:03:39,655 --> 00:03:43,014 in clinical genetics and genetic diseases occurs in 95 00:03:43,014 --> 00:03:43,674 the exome. 96 00:03:43,974 --> 00:03:46,455 But as we learn more about variation outside 97 00:03:46,455 --> 00:03:49,435 of these protein coding regions, whole genome sequencing 98 00:03:49,574 --> 00:03:52,555 is becoming increasingly more important. So really 99 00:03:53,069 --> 00:03:53,569 exciting, 100 00:03:54,110 --> 00:03:55,650 shift. And and there's there's 101 00:03:56,030 --> 00:03:58,030 a number of reasons for this shift to 102 00:03:58,030 --> 00:03:59,250 the broad based, 103 00:04:00,030 --> 00:04:00,530 testing. 104 00:04:01,150 --> 00:04:03,870 And the most important piece is that clinical 105 00:04:03,870 --> 00:04:04,370 studies 106 00:04:05,145 --> 00:04:05,965 clinical evidence 107 00:04:06,425 --> 00:04:07,884 shows a higher diagnostic 108 00:04:08,425 --> 00:04:10,985 yield for whole genome sequencing and whole exome 109 00:04:10,985 --> 00:04:13,944 sequencing over other types of testing, such as 110 00:04:13,944 --> 00:04:16,524 multi gene panels and chromosomal microarray. 111 00:04:17,250 --> 00:04:19,910 Another big reason for the shift is professional 112 00:04:20,050 --> 00:04:22,129 organizations such as the one I belong to, 113 00:04:22,129 --> 00:04:24,790 the American College of Medical Genetics and Genomics, 114 00:04:25,410 --> 00:04:28,710 are recommending that clinicians use whole exome sequencing 115 00:04:28,770 --> 00:04:31,250 and whole genome sequencing as a first tier 116 00:04:31,250 --> 00:04:32,230 test for 117 00:04:32,634 --> 00:04:34,654 conditions such as developmental delay, 118 00:04:35,594 --> 00:04:38,654 intellectual disability, congenital anomalies, and epilepsy. 119 00:04:40,314 --> 00:04:44,074 And, 3rd, health insurance companies are starting to 120 00:04:44,074 --> 00:04:44,970 pay for this. 121 00:04:45,290 --> 00:04:47,230 Both public and private 122 00:04:47,850 --> 00:04:50,670 payers are starting to reimburse for coxumecipacine 123 00:04:51,290 --> 00:04:54,110 and whole genome sequencing. Matter of fact, 90% 124 00:04:54,170 --> 00:04:55,310 of commercial payers 125 00:04:56,009 --> 00:04:58,805 are paying for whole exome and whole genome. 126 00:04:58,805 --> 00:04:59,865 So this is huge. 127 00:05:00,324 --> 00:05:01,225 And then last, 128 00:05:01,685 --> 00:05:03,944 which is is is also 129 00:05:04,324 --> 00:05:06,985 related to to the payers, that the technology 130 00:05:07,045 --> 00:05:09,785 is improving and the cost of these technologies 131 00:05:10,564 --> 00:05:11,305 are dropping. 132 00:05:11,889 --> 00:05:13,189 So exome and sequencing, 133 00:05:13,569 --> 00:05:16,449 whole exome sequencing, and whole genome sequencing prices 134 00:05:16,449 --> 00:05:18,850 are are dropping. So this is this testing 135 00:05:18,850 --> 00:05:20,230 is becoming more accessible. 136 00:05:21,889 --> 00:05:23,650 That's great to hear. You know, I'm really, 137 00:05:24,129 --> 00:05:24,629 fascinating 138 00:05:24,930 --> 00:05:27,384 that these tests are becoming more accessible, 139 00:05:27,845 --> 00:05:29,925 and people's ability to really know more about 140 00:05:29,925 --> 00:05:32,245 themselves and and prepare as well. I can 141 00:05:32,245 --> 00:05:33,625 imagine it is really beneficial. 142 00:05:34,324 --> 00:05:35,384 What do pediatricians 143 00:05:35,764 --> 00:05:38,485 need to understand about the advantages of some 144 00:05:38,485 --> 00:05:39,305 of this advanced 145 00:05:39,839 --> 00:05:43,139 genomic testing versus other categories of genetic testing? 146 00:05:44,639 --> 00:05:45,139 Yes. 147 00:05:45,520 --> 00:05:47,199 They need to know a lot. So that's 148 00:05:47,199 --> 00:05:49,680 the the the short answer. The the long 149 00:05:49,680 --> 00:05:50,740 answer is, 150 00:05:51,360 --> 00:05:52,980 I want I wanna group these 151 00:05:53,394 --> 00:05:55,714 these tests into 3 buckets. So first, I've 152 00:05:55,714 --> 00:05:58,274 already talked about broad based testing, whole exome 153 00:05:58,274 --> 00:06:00,675 sequencing, and whole genome sequencing. So let's put 154 00:06:00,675 --> 00:06:01,814 that in one bucket. 155 00:06:02,274 --> 00:06:04,294 And and and both of these tests, 156 00:06:04,675 --> 00:06:05,495 as I noted, 157 00:06:06,250 --> 00:06:08,829 covers our entire genome. So we have 20,000 158 00:06:09,050 --> 00:06:11,290 genes, so it covers all of that. Now 159 00:06:11,290 --> 00:06:14,810 bucket number 2 are multi gene panels, and 160 00:06:14,810 --> 00:06:17,550 these test 100 of genes or less. 161 00:06:18,345 --> 00:06:20,045 And this was very popular, 162 00:06:21,225 --> 00:06:22,904 in in the past, you know, in the 163 00:06:22,904 --> 00:06:25,545 past 10 years because it was less expensive 164 00:06:25,545 --> 00:06:27,705 than doing the whole genome or whole exome. 165 00:06:27,705 --> 00:06:29,865 So second bucket, like I said, are multi 166 00:06:29,865 --> 00:06:32,129 gene panel. And then the 3rd group is 167 00:06:32,129 --> 00:06:33,990 something called chromosomal microarray, 168 00:06:34,850 --> 00:06:36,689 and this was being developed back when I 169 00:06:36,689 --> 00:06:38,149 was a a medical 170 00:06:38,610 --> 00:06:42,050 school student and and resident in training, many 171 00:06:42,050 --> 00:06:44,654 years ago. And this looks for large duplications 172 00:06:44,875 --> 00:06:47,035 and deletions of our genes in our in 173 00:06:47,035 --> 00:06:50,634 our genome, often involving millions of base pairs 174 00:06:50,634 --> 00:06:52,875 of of DNA. So that's the 3rd bucket. 175 00:06:52,875 --> 00:06:55,035 And so all 3 of these buckets are 176 00:06:55,035 --> 00:06:56,415 being used today. 177 00:06:57,035 --> 00:07:00,180 And what the pediatrician needs to know, 178 00:07:00,480 --> 00:07:01,939 and this is the most important 179 00:07:02,480 --> 00:07:04,080 fact that they need to know, is that 180 00:07:04,080 --> 00:07:07,360 the diagnostic yield is significantly higher for exome 181 00:07:07,360 --> 00:07:09,540 and genome than the other types of testing, 182 00:07:10,024 --> 00:07:12,605 which makes sense as as exomes and genomes 183 00:07:12,665 --> 00:07:14,205 are are much more comprehensive. 184 00:07:15,225 --> 00:07:17,165 And rare disease discovery 185 00:07:17,865 --> 00:07:20,345 continues to progress at a very high rate. 186 00:07:20,345 --> 00:07:23,725 There's hundreds of new gene disease associations 187 00:07:24,449 --> 00:07:24,949 every 188 00:07:25,410 --> 00:07:27,490 year. So you can imagine that these panels 189 00:07:27,490 --> 00:07:29,569 just can't get big enough to include all 190 00:07:29,569 --> 00:07:32,289 these different genes. So broad based testing is 191 00:07:32,289 --> 00:07:34,689 able to capture these new discoveries where a 192 00:07:34,689 --> 00:07:36,229 panel is limited to 193 00:07:36,964 --> 00:07:39,444 the genes that were originally placed on the 194 00:07:39,444 --> 00:07:42,564 panel. And then there's microarray, the 3rd bucket, 195 00:07:42,564 --> 00:07:44,105 and this looks for 196 00:07:44,485 --> 00:07:44,985 large 197 00:07:45,365 --> 00:07:47,944 duplications or deletions of our genome. 198 00:07:48,404 --> 00:07:50,884 And we're talking about millions of base pairs 199 00:07:50,884 --> 00:07:53,439 and hundreds of genes often needs deletions. 200 00:07:54,060 --> 00:07:56,379 But, really, we want the resolution down to 201 00:07:56,379 --> 00:07:58,779 a single base pair or single alphabet of 202 00:07:58,779 --> 00:08:00,319 our genome, and that's where 203 00:08:00,699 --> 00:08:03,279 whole exome sequencing and whole genome sequencing 204 00:08:03,899 --> 00:08:06,105 really puts the bill. It gets right down 205 00:08:06,105 --> 00:08:08,904 to single base pair changes along with what 206 00:08:08,904 --> 00:08:12,365 microarray does anyway. So this broad based testing 207 00:08:12,824 --> 00:08:14,824 is much more efficient, and it's better for 208 00:08:14,824 --> 00:08:16,685 patients and their families because 209 00:08:17,225 --> 00:08:18,285 they get a diagnosis 210 00:08:18,990 --> 00:08:22,350 quicker. Many many clinicians today are doing what 211 00:08:22,350 --> 00:08:24,509 we call serial testing. They'll start out with 212 00:08:24,509 --> 00:08:26,750 a chromosomal microarray, then it move to a 213 00:08:26,750 --> 00:08:29,470 multi gene panel. Then finally, they'll get around 214 00:08:29,470 --> 00:08:32,384 to broad based testing with whole exome sequencing 215 00:08:32,445 --> 00:08:33,825 or whole genome sequencing. 216 00:08:34,284 --> 00:08:36,764 And this delays the diagnosis as I mentioned. 217 00:08:36,764 --> 00:08:38,464 And also, it incurs unnecessary 218 00:08:38,845 --> 00:08:40,304 medical costs. So just, 219 00:08:41,004 --> 00:08:41,745 the medical 220 00:08:42,284 --> 00:08:42,784 associations 221 00:08:43,610 --> 00:08:46,170 and the payers are definitely pointing to what 222 00:08:46,170 --> 00:08:48,410 the medical evidence says. Let's go straight to 223 00:08:48,410 --> 00:08:49,550 broad based testing. 224 00:08:50,889 --> 00:08:52,830 That's great to hear. You know, and really 225 00:08:52,889 --> 00:08:56,670 powerful information for physicians and pediatricians in particular 226 00:08:56,730 --> 00:08:59,815 is they're looking at how they can advise 227 00:08:59,815 --> 00:09:01,735 their patients, see what really the next steps 228 00:09:01,735 --> 00:09:02,875 are moving forward. 229 00:09:03,254 --> 00:09:05,095 Now I'm wondering too, what are some of 230 00:09:05,095 --> 00:09:07,414 the barriers to patient and provider access to 231 00:09:07,414 --> 00:09:10,455 the advanced, genomic testing, and what steps need 232 00:09:10,455 --> 00:09:12,214 to be taken in order to increase that 233 00:09:12,214 --> 00:09:12,714 access? 234 00:09:14,110 --> 00:09:16,990 Access to a medical provider who can order 235 00:09:16,990 --> 00:09:19,309 and diagnose a rare condition is the biggest 236 00:09:19,309 --> 00:09:20,529 barrier in my opinion. 237 00:09:21,470 --> 00:09:24,269 There are very few medical geneticists in this 238 00:09:24,269 --> 00:09:27,169 country. And as I said in the introduction, 239 00:09:27,230 --> 00:09:28,370 I'm a medical geneticist. 240 00:09:29,315 --> 00:09:29,815 And 241 00:09:30,355 --> 00:09:32,434 we, the medical geneticists, are the main state 242 00:09:32,434 --> 00:09:34,934 for ordering genetic testing in North America. 243 00:09:35,315 --> 00:09:37,875 A recent report by the National Academies of 244 00:09:37,875 --> 00:09:41,254 Sciences, Engineering, and Medicine on pediatric subspecialties 245 00:09:41,714 --> 00:09:43,335 reported that clinical geneticists 246 00:09:44,139 --> 00:09:45,519 and of all other specialists 247 00:09:45,980 --> 00:09:46,799 to be seen. 248 00:09:47,259 --> 00:09:48,159 In my experience, 249 00:09:48,700 --> 00:09:49,839 it is not unusual 250 00:09:50,220 --> 00:09:52,539 to wait 1 year for a referral to 251 00:09:52,539 --> 00:09:53,519 a clinical geneticist. 252 00:09:54,379 --> 00:09:56,080 This simply is unacceptable 253 00:09:56,620 --> 00:09:59,054 for patients to have to wait that long 254 00:09:59,534 --> 00:10:02,495 and families. This this prolongs their suffering, but 255 00:10:02,495 --> 00:10:05,714 also strains an already stretched health system. 256 00:10:06,495 --> 00:10:09,134 There's also low uptake and understanding from non 257 00:10:09,134 --> 00:10:09,634 geneticists 258 00:10:10,815 --> 00:10:13,799 less familiar with advanced genomic testing such as 259 00:10:13,799 --> 00:10:16,220 whole exome sequencing and whole genome sequencing. 260 00:10:16,679 --> 00:10:17,419 As guidelines 261 00:10:18,440 --> 00:10:21,000 and coverage continue to increase pointing to the 262 00:10:21,000 --> 00:10:23,500 critical role of these tests in pediatric care, 263 00:10:23,879 --> 00:10:25,899 I really want to see more non geneticists 264 00:10:26,200 --> 00:10:26,860 like pediatricians 265 00:10:27,320 --> 00:10:30,464 embracing these tests as a standard of care. 266 00:10:31,404 --> 00:10:34,365 And until we get to that point, there's 267 00:10:34,365 --> 00:10:36,304 gonna be long waiting 268 00:10:36,684 --> 00:10:37,184 lines 269 00:10:37,964 --> 00:10:40,204 or for patients and families to get this 270 00:10:40,204 --> 00:10:42,544 type of testing and a precision diagnosis. 271 00:10:43,620 --> 00:10:46,899 Another barrier is patient and family awareness about 272 00:10:46,899 --> 00:10:49,700 genomic testing. I've spoken to many families with 273 00:10:49,700 --> 00:10:51,879 conditions such as epilepsy or autism 274 00:10:52,340 --> 00:10:54,740 that wish they had known about genetic testing 275 00:10:54,740 --> 00:10:56,679 years before they received the diagnosis. 276 00:10:57,684 --> 00:11:00,004 It's well known that less than 1 in 277 00:11:00,004 --> 00:11:01,865 6 parents or 15% 278 00:11:02,325 --> 00:11:03,945 of parents of undiagnosed 279 00:11:04,404 --> 00:11:04,904 children 280 00:11:05,924 --> 00:11:06,424 have 281 00:11:07,284 --> 00:11:10,084 heard of or are familiar with advanced testing 282 00:11:10,084 --> 00:11:13,080 such as whole exome sequencing or whole genome 283 00:11:13,080 --> 00:11:13,580 sequencing. 284 00:11:14,519 --> 00:11:16,460 So these this lack of awareness 285 00:11:17,000 --> 00:11:19,820 testing is is really the number one barrier. 286 00:11:19,960 --> 00:11:22,839 And I I don't I don't wanna skip 287 00:11:22,839 --> 00:11:25,960 over commercial insurers and payers. Well, 90% of 288 00:11:25,960 --> 00:11:26,460 commercial 289 00:11:27,055 --> 00:11:27,555 insurers 290 00:11:28,095 --> 00:11:30,175 pay for this type of testing. As I 291 00:11:30,175 --> 00:11:31,075 mentioned before, 292 00:11:31,615 --> 00:11:32,835 in 28 states 293 00:11:33,855 --> 00:11:36,995 cover whole genome sequencing or whole exome sequencing 294 00:11:37,055 --> 00:11:38,835 through state Medicaid programs, 295 00:11:39,269 --> 00:11:41,430 our payer system is still not perfect. And 296 00:11:41,430 --> 00:11:43,930 there's certainly a lot of opportunity with payers 297 00:11:44,710 --> 00:11:48,070 to improve re the reimbursement process and make 298 00:11:48,070 --> 00:11:50,550 it easier for ordering providers to to order 299 00:11:50,550 --> 00:11:51,370 these tests. 300 00:11:53,075 --> 00:11:54,934 That's such a great point. You know that, 301 00:11:55,475 --> 00:11:57,315 kind of closing the gap with the number 302 00:11:57,315 --> 00:11:57,975 of providers 303 00:11:58,274 --> 00:12:00,514 and specialists who are are doing these tests 304 00:12:00,514 --> 00:12:03,654 plus making sure there's access from insurance and, 305 00:12:04,115 --> 00:12:06,134 from that perspective is so crucial. 306 00:12:06,779 --> 00:12:09,179 Looking ahead, what's on the horizon for genomic 307 00:12:09,179 --> 00:12:11,019 medicine? What do you really see over the 308 00:12:11,019 --> 00:12:12,000 next few years? 309 00:12:13,259 --> 00:12:15,179 Yeah. That's that's something I love to talk 310 00:12:15,179 --> 00:12:17,199 about. I I teach medical students, 311 00:12:18,059 --> 00:12:20,139 here in the Washington DC area, and what 312 00:12:20,139 --> 00:12:21,279 I tell them is 313 00:12:21,820 --> 00:12:22,320 my 314 00:12:22,835 --> 00:12:25,815 specialty or or my career with the diagnosis, 315 00:12:25,955 --> 00:12:27,815 and their career is gonna be in treatment. 316 00:12:28,595 --> 00:12:30,855 We are really in the golden age 317 00:12:31,554 --> 00:12:33,715 of genomic medicine right now with all these 318 00:12:33,715 --> 00:12:36,419 new treatments and improved testing such as whole 319 00:12:36,419 --> 00:12:38,419 exome and whole sequencing. So we're really in 320 00:12:38,419 --> 00:12:39,240 an an exciting 321 00:12:39,940 --> 00:12:41,639 time going forward. 322 00:12:42,340 --> 00:12:43,559 What I see on the horizon 323 00:12:44,100 --> 00:12:47,460 is eliminating the diagnostic odyssey. So there's there's 324 00:12:47,460 --> 00:12:49,125 a term we use a lot, and I 325 00:12:49,205 --> 00:12:50,664 might have mentioned it earlier 326 00:12:51,044 --> 00:12:53,684 in this podcast. But the diagnostic odyssey is 327 00:12:53,684 --> 00:12:55,625 the time when symptoms begin 328 00:12:56,485 --> 00:12:58,424 until a diagnosis is made. 329 00:12:59,044 --> 00:13:02,404 And in rare disease, it averages about 6 330 00:13:02,404 --> 00:13:02,904 years. 331 00:13:03,809 --> 00:13:05,330 And I don't think any of us in 332 00:13:05,330 --> 00:13:07,330 the cyst in the ecosystem and the rare 333 00:13:07,330 --> 00:13:07,830 disease 334 00:13:08,289 --> 00:13:08,789 ecosystem 335 00:13:09,090 --> 00:13:11,809 should sleep until this time is much shorter. 336 00:13:11,809 --> 00:13:13,269 6 years is too long 337 00:13:13,649 --> 00:13:15,410 to to have a diagnosis. So as we 338 00:13:15,410 --> 00:13:16,149 move forward, 339 00:13:17,009 --> 00:13:18,789 for both children and adults, 340 00:13:19,845 --> 00:13:20,504 the horizon 341 00:13:21,125 --> 00:13:23,845 is in the future, is gonna show a 342 00:13:23,845 --> 00:13:26,084 decrease in the diagnostic odyssey. And there's a 343 00:13:26,084 --> 00:13:28,485 lot of reasons for this. One is is 344 00:13:28,485 --> 00:13:31,284 we've talked about in this this podcast that 345 00:13:31,284 --> 00:13:31,784 improved, 346 00:13:33,049 --> 00:13:35,850 access to whole exome and whole c whole 347 00:13:35,850 --> 00:13:36,750 genome sequencing. 348 00:13:37,850 --> 00:13:41,450 Another part that that's really gonna decrease the 349 00:13:41,450 --> 00:13:42,669 diagnostic odyssey 350 00:13:43,209 --> 00:13:46,589 is moving testing earlier in people's lives. 351 00:13:47,289 --> 00:13:49,904 I wanna talk just briefly about this project 352 00:13:49,904 --> 00:13:52,705 that's called, the Guardian Project. And there's other 353 00:13:52,705 --> 00:13:54,165 projects like this 354 00:13:54,785 --> 00:13:56,884 around the world right now. And this is 355 00:13:57,105 --> 00:13:57,845 where we 356 00:13:58,945 --> 00:14:01,365 expand newborn screening to diagnose 357 00:14:01,799 --> 00:14:02,860 more rare diseases 358 00:14:03,240 --> 00:14:05,019 earlier and presumably healthy 359 00:14:05,399 --> 00:14:06,220 infants before 360 00:14:07,159 --> 00:14:09,480 symptoms set in and and and cause harm 361 00:14:09,480 --> 00:14:11,480 to to these infants. And there's a there's 362 00:14:11,480 --> 00:14:12,940 really an exciting project 363 00:14:13,815 --> 00:14:15,735 that is taking place in New York City 364 00:14:15,735 --> 00:14:17,035 through Columbia University, 365 00:14:17,975 --> 00:14:20,154 the New York State Health Department, 366 00:14:20,934 --> 00:14:21,415 and, 367 00:14:21,894 --> 00:14:24,134 GNDX, the the company where I spend a 368 00:14:24,134 --> 00:14:26,154 lot of time. And we're newborn 369 00:14:26,970 --> 00:14:30,429 screening newborn screening traditional newborn screening that's supplemented 370 00:14:30,490 --> 00:14:32,509 with whole genome sequencing technology. 371 00:14:33,209 --> 00:14:36,589 And this program has sequenced over 10,000 372 00:14:37,209 --> 00:14:38,669 babies in New York City. 373 00:14:39,975 --> 00:14:41,754 And a test for an additional 450 374 00:14:42,375 --> 00:14:43,835 rare disease conditions 375 00:14:44,375 --> 00:14:45,274 that are actionable. 376 00:14:45,735 --> 00:14:48,554 And so you can imagine instead of diagnosing 377 00:14:48,695 --> 00:14:50,855 a child who has suffered 10 years without 378 00:14:50,855 --> 00:14:52,715 knowing to diagnosis, you're diagnosing 379 00:14:53,095 --> 00:14:54,634 these conditions in infancy. 380 00:14:55,709 --> 00:14:57,870 And like I said, over 10,000 infants have 381 00:14:57,870 --> 00:15:00,750 been completed. We're seeing a diagnostic yield about 382 00:15:00,750 --> 00:15:03,549 3%. So 3% of individuals are getting the 383 00:15:03,549 --> 00:15:06,589 test, and the consent rate is surprisingly high. 384 00:15:06,589 --> 00:15:08,129 This is a research project, 385 00:15:08,965 --> 00:15:11,764 through Columbia University in in New York City, 386 00:15:11,764 --> 00:15:14,585 and the the consent rate is over 70%. 387 00:15:14,804 --> 00:15:16,965 So this is really fantastic. This is an 388 00:15:16,965 --> 00:15:17,465 example 389 00:15:18,004 --> 00:15:18,825 of diagnosing 390 00:15:20,485 --> 00:15:21,304 rare disease 391 00:15:22,019 --> 00:15:24,759 earlier in in in cutting out that diagnostic 392 00:15:24,820 --> 00:15:26,660 odyssey. And then there's a lot of other 393 00:15:26,660 --> 00:15:29,620 really exciting things that that are happening in 394 00:15:29,620 --> 00:15:30,600 in North America. 395 00:15:31,220 --> 00:15:34,340 A lot of neonatal intensive care units or 396 00:15:34,340 --> 00:15:36,705 NICUs are starting to do what we call 397 00:15:36,705 --> 00:15:39,425 rapid whole genome sequencing in the NICUs where 398 00:15:39,425 --> 00:15:41,205 we have critically ill infants, 399 00:15:41,585 --> 00:15:43,125 and they're doing testing. 400 00:15:43,825 --> 00:15:46,004 And it gives these these infants 401 00:15:46,305 --> 00:15:49,365 a diagnosis and allows for a precision therapy. 402 00:15:49,504 --> 00:15:50,004 So 403 00:15:50,309 --> 00:15:52,970 moving the needle earlier and earlier, 404 00:15:53,750 --> 00:15:56,410 is gonna be extremely helpful. And I and 405 00:15:56,629 --> 00:15:58,549 as we move forward in the next 5 406 00:15:58,549 --> 00:16:00,649 years, you're gonna see a lot of these 407 00:16:01,350 --> 00:16:02,490 earlier testing, 408 00:16:03,429 --> 00:16:04,570 programs implemented. 409 00:16:06,004 --> 00:16:08,565 So this is this these are some of 410 00:16:08,565 --> 00:16:10,084 the the things that I see on the 411 00:16:10,084 --> 00:16:10,584 horizon. 412 00:16:11,445 --> 00:16:13,445 And and then the last thing is is 413 00:16:13,445 --> 00:16:15,384 what we talked about before, I think. 414 00:16:16,084 --> 00:16:16,584 Pediatricians 415 00:16:17,044 --> 00:16:19,605 and non geneticists are gonna take the the 416 00:16:19,605 --> 00:16:22,429 baton from geneticists and and really 417 00:16:23,129 --> 00:16:24,830 decrease those long waiting 418 00:16:25,210 --> 00:16:25,710 lines 419 00:16:26,169 --> 00:16:27,149 for for, 420 00:16:27,610 --> 00:16:29,070 care and testing. 421 00:16:30,570 --> 00:16:32,889 That's fascinating. Doctor Kruska, thank you so much 422 00:16:32,889 --> 00:16:34,664 for joining us on the podcast today. This 423 00:16:34,664 --> 00:16:37,304 is a really informative and interesting discussion, and 424 00:16:37,304 --> 00:16:38,825 I look forward to connecting with you again 425 00:16:38,825 --> 00:16:39,325 soon. 426 00:16:40,424 --> 00:16:42,664 Yes. Thank you for having me, and and 427 00:16:42,664 --> 00:16:45,625 I I really enjoyed speaking and and and 428 00:16:45,625 --> 00:16:47,705 really wanna get the word out about the 429 00:16:47,705 --> 00:16:50,187 diagnostic odyssey is alive and well at 6 430 00:16:50,187 --> 00:16:52,747 years, and and we really we really need 431 00:16:52,747 --> 00:16:54,367 to to make that smaller.