1 00:00:00,510 --> 00:00:02,880 [Tamara] Hello, welcome to Module 13. 2 00:00:02,880 --> 00:00:07,020 Here, we're going to continue our discussion from last week 3 00:00:07,020 --> 00:00:12,020 on some of the ethical considerations of genetic testing 4 00:00:12,990 --> 00:00:14,310 and that information 5 00:00:14,310 --> 00:00:15,780 and how it can be used 6 00:00:15,780 --> 00:00:17,760 or even misused in some situations. 7 00:00:17,760 --> 00:00:21,570 And we're going to think about this across the lifespan, 8 00:00:21,570 --> 00:00:25,650 not just in terms of solely the ethical considerations, 9 00:00:25,650 --> 00:00:27,420 but also what are the potential benefits 10 00:00:27,420 --> 00:00:31,620 and when these tests might come up for a person. 11 00:00:31,620 --> 00:00:33,930 And we're gonna think about it across the lifespan 12 00:00:33,930 --> 00:00:37,020 because it really is quite different 13 00:00:37,020 --> 00:00:40,020 in terms of the considerations 14 00:00:40,020 --> 00:00:43,470 of the risks and benefits to a patient 15 00:00:43,470 --> 00:00:47,370 when we're thinking about it at different stages of life. 16 00:00:47,370 --> 00:00:50,640 Because there are different options that may be available. 17 00:00:50,640 --> 00:00:53,880 It may mean different things at those different stages. 18 00:00:53,880 --> 00:00:56,700 So let's take it and break it down 19 00:00:56,700 --> 00:01:01,170 by stage of the life across the lifespan 20 00:01:01,170 --> 00:01:02,370 and think of it that way. 21 00:01:02,370 --> 00:01:04,050 So by way of introduction, 22 00:01:04,050 --> 00:01:06,030 at each stage of the lifespan, 23 00:01:06,030 --> 00:01:09,720 so here we're talking about prenatal or even preconception, 24 00:01:09,720 --> 00:01:14,280 neonatal, pediatric, adult, geriatric, 25 00:01:14,280 --> 00:01:16,680 genetic testing can impact patients differently 26 00:01:16,680 --> 00:01:17,640 and can bring along 27 00:01:17,640 --> 00:01:20,640 unique ethical, legal, and social implications. 28 00:01:20,640 --> 00:01:22,400 Prenatal or preconception genetic testing 29 00:01:22,400 --> 00:01:25,410 is typically recommended for specific diseases 30 00:01:25,410 --> 00:01:28,890 known to exist in the mother or father's family history. 31 00:01:28,890 --> 00:01:32,550 There are some that are also recommended 32 00:01:32,550 --> 00:01:34,710 depending upon maternal age. 33 00:01:34,710 --> 00:01:36,780 For example, certain aneuploidy testing, 34 00:01:36,780 --> 00:01:39,963 as we talked about in an earlier module. 35 00:01:41,384 --> 00:01:44,130 Neonatal screening is mandated by the state 36 00:01:44,130 --> 00:01:46,533 and includes tests for genetic diseases. 37 00:01:49,170 --> 00:01:51,270 These were decided 38 00:01:51,270 --> 00:01:53,790 based upon a set of criteria 39 00:01:53,790 --> 00:01:55,890 that each of these conditions must have met, 40 00:01:55,890 --> 00:01:56,970 including that it's something 41 00:01:56,970 --> 00:01:59,820 that could be easily tested for 42 00:01:59,820 --> 00:02:01,158 and also something 43 00:02:01,158 --> 00:02:06,158 that's either impacting the newborn immediately 44 00:02:06,600 --> 00:02:10,410 or will have an early-childhood onset. 45 00:02:10,410 --> 00:02:12,030 So it's not something 46 00:02:12,030 --> 00:02:13,860 that would be as much a predictive test 47 00:02:13,860 --> 00:02:15,720 as more of a diagnostic kind of test. 48 00:02:15,720 --> 00:02:17,280 But these are all still screened. 49 00:02:17,280 --> 00:02:20,670 So they would require subsequent follow-up 50 00:02:20,670 --> 00:02:21,900 and clinical follow-up 51 00:02:21,900 --> 00:02:23,643 in order to make a diagnosis. 52 00:02:24,930 --> 00:02:26,790 Pediatric genetic testing 53 00:02:26,790 --> 00:02:29,760 occurs in children demonstrating possible symptoms 54 00:02:29,760 --> 00:02:30,600 of a genetic disease 55 00:02:30,600 --> 00:02:32,580 like intellectual disability 56 00:02:32,580 --> 00:02:36,213 or those that have sort of a set of anomalies 57 00:02:37,830 --> 00:02:42,330 that haven't been classified into a particular diagnosis. 58 00:02:42,330 --> 00:02:44,760 Certain genetic testing can be helpful 59 00:02:44,760 --> 00:02:47,190 to identify if maybe this is associated 60 00:02:47,190 --> 00:02:49,350 with a chromosomal abnormality, 61 00:02:49,350 --> 00:02:52,230 like some of those we've talked about previously. 62 00:02:52,230 --> 00:02:54,840 That can have a range of symptoms with them. 63 00:02:54,840 --> 00:02:57,000 So it can be rather challenging to diagnose 64 00:02:57,000 --> 00:03:00,183 and do actually require genetic testing for that. 65 00:03:01,830 --> 00:03:03,360 Adult genetic testing 66 00:03:03,360 --> 00:03:04,890 is most common in individuals 67 00:03:04,890 --> 00:03:07,200 with a family history of adult-onset diseases 68 00:03:07,200 --> 00:03:09,510 like cancer and Huntington's disease. 69 00:03:09,510 --> 00:03:13,080 So here is where it's pretty rare 70 00:03:13,080 --> 00:03:14,700 and it's generally not recommended 71 00:03:14,700 --> 00:03:16,172 in the pediatric population 72 00:03:16,172 --> 00:03:19,860 that, say, a child is tested for a condition 73 00:03:19,860 --> 00:03:22,890 that would not have onset until adulthood 74 00:03:22,890 --> 00:03:25,770 because they want to give the child the opportunity 75 00:03:25,770 --> 00:03:27,300 to have autonomy 76 00:03:27,300 --> 00:03:29,791 and be able to make the decision for him or herself 77 00:03:29,791 --> 00:03:32,340 when they are an adult, 78 00:03:32,340 --> 00:03:33,173 to be able to decide 79 00:03:33,173 --> 00:03:35,880 if that's something they want to know for themselves. 80 00:03:35,880 --> 00:03:39,600 So that is generally left for adult genetic testing. 81 00:03:39,600 --> 00:03:42,750 Geriatric genetic testing may provide useful information 82 00:03:42,750 --> 00:03:44,640 to the patient and the patient's family. 83 00:03:44,640 --> 00:03:47,490 However, common age-related conditions like dementia 84 00:03:47,490 --> 00:03:49,560 are not typically linked with alleles 85 00:03:49,560 --> 00:03:51,510 included in most genetic tests. 86 00:03:51,510 --> 00:03:56,250 So why would you do genetic testing in geriatric population? 87 00:03:56,250 --> 00:03:58,080 Well, actually in some cases, 88 00:03:58,080 --> 00:03:59,670 it can be informative 89 00:03:59,670 --> 00:04:01,770 for their family members 90 00:04:01,770 --> 00:04:04,740 more so even for themselves directly. 91 00:04:04,740 --> 00:04:07,470 If a patient is diagnosed with dementia 92 00:04:07,470 --> 00:04:08,793 or Alzheimer's disease, 93 00:04:10,410 --> 00:04:12,390 then it may be useful 94 00:04:12,390 --> 00:04:16,655 for family members to have an understanding 95 00:04:16,655 --> 00:04:20,670 if there's a genetic underpinning to that. 96 00:04:20,670 --> 00:04:25,620 And if so, knowing which allele that the patient has 97 00:04:25,620 --> 00:04:27,690 who has, say, for example, 98 00:04:27,690 --> 00:04:29,700 diagnosis of Alzheimer's disease, 99 00:04:29,700 --> 00:04:31,590 will help in identifying 100 00:04:31,590 --> 00:04:34,710 if their family members also have that specific allele. 101 00:04:34,710 --> 00:04:35,970 So it can very much help 102 00:04:35,970 --> 00:04:40,890 in interpreting the results of genetic tests within a family 103 00:04:40,890 --> 00:04:43,650 to know the specific allele 104 00:04:43,650 --> 00:04:47,283 that the affected family member had. 105 00:04:48,930 --> 00:04:49,920 All right, so let's get started 106 00:04:49,920 --> 00:04:52,050 with prenatal testing and screening. 107 00:04:52,050 --> 00:04:54,300 Preconception genetic counseling 108 00:04:54,300 --> 00:04:56,610 can be beneficial for those with a family history 109 00:04:56,610 --> 00:04:58,260 of a specific genetic disease 110 00:04:58,260 --> 00:05:00,510 or members of ethnicities or races 111 00:05:00,510 --> 00:05:02,970 with high risk of certain genetic diseases. 112 00:05:02,970 --> 00:05:03,870 The one in particular 113 00:05:03,870 --> 00:05:05,790 that you'll probably hear about quite a bit 114 00:05:05,790 --> 00:05:06,870 if you're looking into 115 00:05:06,870 --> 00:05:11,067 any of these prenatal testing panels, for example, 116 00:05:11,067 --> 00:05:14,160 are those in the Ashkenazi Jewish population 117 00:05:14,160 --> 00:05:17,580 where there are certain genetic diseases 118 00:05:17,580 --> 00:05:18,810 like Tay-Sachs disease, 119 00:05:18,810 --> 00:05:21,420 which are relatively rare in the general population, 120 00:05:21,420 --> 00:05:23,940 are much more common in those populations. 121 00:05:23,940 --> 00:05:26,790 And thus when individuals, 122 00:05:26,790 --> 00:05:29,430 especially when both the male and female 123 00:05:29,430 --> 00:05:34,260 are from the same ethnic group or race 124 00:05:34,260 --> 00:05:38,340 where these conditions are more common, 125 00:05:38,340 --> 00:05:41,850 for them to potentially have these genetic tests done 126 00:05:41,850 --> 00:05:42,900 for carrier status, 127 00:05:42,900 --> 00:05:47,900 mostly to find out the risks for any children they may have 128 00:05:50,580 --> 00:05:52,413 to have the disease. 129 00:05:54,150 --> 00:05:57,990 But, again, it's likely specific 130 00:05:57,990 --> 00:05:59,940 for conditions that are found 131 00:05:59,940 --> 00:06:03,333 in a person's family history. 132 00:06:05,400 --> 00:06:08,910 Preconception testing is generally carrier testing, 133 00:06:08,910 --> 00:06:11,130 but the results may have direct implication 134 00:06:11,130 --> 00:06:12,510 for the partner's health. 135 00:06:12,510 --> 00:06:14,820 So that's something very important to keep in mind. 136 00:06:14,820 --> 00:06:17,190 While you might be testing for carrier status, 137 00:06:17,190 --> 00:06:21,490 it doesn't mean that it has no implication 138 00:06:22,650 --> 00:06:25,500 beyond the potential impact 139 00:06:25,500 --> 00:06:27,960 on future children for that person. 140 00:06:27,960 --> 00:06:31,050 It may also indicate that a person has 141 00:06:31,050 --> 00:06:36,050 or will have a condition presents in the future 142 00:06:36,840 --> 00:06:38,430 or presently is presenting 143 00:06:38,430 --> 00:06:40,710 but hadn't been recognized as that yet. 144 00:06:40,710 --> 00:06:44,370 So that's important for the patient to understand 145 00:06:44,370 --> 00:06:45,843 as a possible outcome. 146 00:06:46,800 --> 00:06:49,410 One example of that would be the sickle cell trait. 147 00:06:49,410 --> 00:06:53,370 So sickle cell anemia is, as you remember, 148 00:06:53,370 --> 00:06:54,540 a recessive condition. 149 00:06:54,540 --> 00:06:57,720 And so if there is genetic testing for carrier status, 150 00:06:57,720 --> 00:06:59,880 you might say, well, if you're a carrier for it, 151 00:06:59,880 --> 00:07:02,370 you don't have any symptoms. 152 00:07:02,370 --> 00:07:04,830 That is and also is not the case. 153 00:07:04,830 --> 00:07:09,830 So a person who is heterozygous for sickle cell traits, 154 00:07:10,080 --> 00:07:11,100 or sickle cell anemia, 155 00:07:11,100 --> 00:07:12,660 they have what's called sickle cell trait, 156 00:07:12,660 --> 00:07:16,290 which means while they do not have sickle cell anemia, 157 00:07:16,290 --> 00:07:18,540 certainly not the symptoms 158 00:07:18,540 --> 00:07:20,940 that are associated with that condition, 159 00:07:20,940 --> 00:07:24,840 they do have certain health implications. 160 00:07:24,840 --> 00:07:26,610 And this can include anything 161 00:07:26,610 --> 00:07:30,420 just from increased risk of dehydration 162 00:07:30,420 --> 00:07:33,780 and more severe effects of dehydration 163 00:07:33,780 --> 00:07:37,650 and other concerning issues that might be related to that. 164 00:07:37,650 --> 00:07:40,230 So the patient would need to be informed of that 165 00:07:40,230 --> 00:07:41,610 as a potential outcome. 166 00:07:41,610 --> 00:07:43,140 And also if the genetic test 167 00:07:43,140 --> 00:07:45,210 comes back that they're a carrier, 168 00:07:45,210 --> 00:07:46,080 they should be informed 169 00:07:46,080 --> 00:07:47,340 of what that actually means 170 00:07:47,340 --> 00:07:50,850 directly for their health as well. 171 00:07:50,850 --> 00:07:53,880 Prenatal testing typically focuses on testing the fetus 172 00:07:53,880 --> 00:07:56,553 for genetic disease or chromosomal abnormality. 173 00:07:58,657 --> 00:08:00,670 And it also generally requires 174 00:08:03,240 --> 00:08:04,260 not just a fetal sample, 175 00:08:04,260 --> 00:08:08,700 but also maternal and paternal samples for comparison 176 00:08:08,700 --> 00:08:10,470 so that they can better 177 00:08:10,470 --> 00:08:12,453 interpret and understand the results. 178 00:08:13,950 --> 00:08:18,450 And that may also give some information 179 00:08:18,450 --> 00:08:21,060 to the patient or the patient's partner 180 00:08:21,060 --> 00:08:24,480 that was not anticipated by the patient, 181 00:08:24,480 --> 00:08:27,660 so should be explained to them prior to the testing. 182 00:08:27,660 --> 00:08:30,060 Preconception results may inform or influence 183 00:08:30,060 --> 00:08:32,220 future reproduction decisions, 184 00:08:32,220 --> 00:08:34,500 while prenatal results may inform the decision 185 00:08:34,500 --> 00:08:35,970 to carry to term 186 00:08:35,970 --> 00:08:37,230 or help prepare the family 187 00:08:37,230 --> 00:08:39,600 for the child's future care. 188 00:08:39,600 --> 00:08:40,710 So here, again, 189 00:08:40,710 --> 00:08:45,480 even within the point of prenatal and preconception, 190 00:08:45,480 --> 00:08:47,970 there are differences in the implications 191 00:08:47,970 --> 00:08:51,480 of the results for the patients. 192 00:08:51,480 --> 00:08:56,480 And here, there are options that can be pursued. 193 00:08:56,640 --> 00:08:58,833 In the case of preconception testing, 194 00:08:59,793 --> 00:09:03,450 if, say, for example, there's a high likelihood 195 00:09:03,450 --> 00:09:05,970 that their future child 196 00:09:05,970 --> 00:09:09,510 would have a particular genetic disease, 197 00:09:09,510 --> 00:09:12,720 then there are options like in vitro fertilization, 198 00:09:12,720 --> 00:09:16,987 and the fertilized eggs can be tested for 199 00:09:21,720 --> 00:09:24,660 which would have the particular genetic disease 200 00:09:24,660 --> 00:09:25,800 and which would not. 201 00:09:25,800 --> 00:09:27,570 And then those embryos 202 00:09:27,570 --> 00:09:30,483 that do not have the genetic condition can be implanted. 203 00:09:31,680 --> 00:09:35,130 Obviously, there's a lot of expense and time and difficulty 204 00:09:35,130 --> 00:09:37,200 associated with in vitro fertilization. 205 00:09:37,200 --> 00:09:40,920 So it can be a difficult decision for a couple to make, 206 00:09:40,920 --> 00:09:44,913 but it is an option for those who can afford it. 207 00:09:45,750 --> 00:09:50,010 So that would be one possible outcome 208 00:09:50,010 --> 00:09:53,610 for those who are undergoing preconception testing. 209 00:09:53,610 --> 00:09:55,440 For those who are prenatal, 210 00:09:55,440 --> 00:09:57,213 you of course have the option, 211 00:10:02,040 --> 00:10:03,510 the couple has the option 212 00:10:03,510 --> 00:10:07,560 for considering termination of the pregnancy 213 00:10:07,560 --> 00:10:12,560 or preparing themselves for a possibility 214 00:10:12,630 --> 00:10:15,513 of a child with a particular condition. 215 00:10:17,280 --> 00:10:20,400 And preconception and prenatal testing 216 00:10:20,400 --> 00:10:22,560 can both significantly impact 217 00:10:22,560 --> 00:10:26,533 the patient's emotional wellbeing and relationships. 218 00:10:26,533 --> 00:10:29,010 And I'm sure you can imagine how that would be the case 219 00:10:29,010 --> 00:10:31,770 and even potentially put yourself in that position 220 00:10:31,770 --> 00:10:35,130 of how would it feel to have that kind of information, 221 00:10:35,130 --> 00:10:37,110 either in the preconception stage 222 00:10:37,110 --> 00:10:39,330 or in the prenatal stage, 223 00:10:39,330 --> 00:10:42,450 the impact that can have on a person 224 00:10:42,450 --> 00:10:46,451 and their psychological wellbeing. 225 00:10:46,451 --> 00:10:50,970 It can certainly be very impactful, 226 00:10:50,970 --> 00:10:54,300 and this is something that requires, I think, 227 00:10:54,300 --> 00:10:56,760 a good amount of counseling upfront. 228 00:10:56,760 --> 00:11:00,030 Preferably if they can meet with a genetic counselor 229 00:11:00,030 --> 00:11:01,230 would be ideal 230 00:11:01,230 --> 00:11:02,760 because they are trained, 231 00:11:02,760 --> 00:11:05,838 these genetic counselors are trained specifically 232 00:11:05,838 --> 00:11:10,590 to not just understand these genetic tests 233 00:11:10,590 --> 00:11:11,423 and the results, 234 00:11:11,423 --> 00:11:15,030 but also they're trained specifically 235 00:11:15,030 --> 00:11:18,060 in knowing how to communicate these potential results 236 00:11:18,060 --> 00:11:19,620 and then once the results come in 237 00:11:19,620 --> 00:11:21,990 to help the patients to cope with results, 238 00:11:21,990 --> 00:11:23,193 whatever they may be. 239 00:11:25,110 --> 00:11:26,790 So what are some risks and cautions 240 00:11:26,790 --> 00:11:29,640 associated with prenatal testing and screening? 241 00:11:29,640 --> 00:11:31,290 False positives indicating, 242 00:11:31,290 --> 00:11:32,820 so a false positive of course being 243 00:11:32,820 --> 00:11:35,640 that the test indicates the fetus 244 00:11:35,640 --> 00:11:37,350 has a genetic disease or disorder 245 00:11:37,350 --> 00:11:38,970 when that is not the case, 246 00:11:38,970 --> 00:11:40,440 or false negatives indicating 247 00:11:40,440 --> 00:11:42,810 the fetus does not have a genetic disease or disorder 248 00:11:42,810 --> 00:11:45,150 that it is actually present. 249 00:11:45,150 --> 00:11:48,120 These can occur with any genetic test or screen 250 00:11:48,120 --> 00:11:50,850 and must be explained as a possibility to the patient. 251 00:11:50,850 --> 00:11:53,340 So regardless of what the results come back, 252 00:11:53,340 --> 00:11:55,170 how the results come back, 253 00:11:55,170 --> 00:11:57,378 it's never 100%. 254 00:11:57,378 --> 00:11:59,520 It's never 100%. 255 00:11:59,520 --> 00:12:01,980 And all screens that return a positive result 256 00:12:01,980 --> 00:12:02,880 must be followed up 257 00:12:02,880 --> 00:12:06,060 with other clinical diagnostics to confirm. 258 00:12:06,060 --> 00:12:07,830 Some prenatal tests are invasive. 259 00:12:07,830 --> 00:12:09,840 So this would include amniocentesis 260 00:12:09,840 --> 00:12:13,380 or chorionic villus sampling. 261 00:12:13,380 --> 00:12:16,020 They carry with them a risk to the mother and the fetus. 262 00:12:16,020 --> 00:12:19,860 There's certainly a risk of miscarriage 263 00:12:19,860 --> 00:12:21,240 that comes along with those 264 00:12:21,240 --> 00:12:22,720 which must be considered 265 00:12:23,760 --> 00:12:27,000 in balancing out the risks and benefits 266 00:12:27,000 --> 00:12:30,663 of any of these types of testing procedures. 267 00:12:32,310 --> 00:12:35,100 Now there's a new type of approach 268 00:12:35,100 --> 00:12:38,370 that is starting to gain momentum 269 00:12:38,370 --> 00:12:41,430 called cell-free fetal DNA testing. 270 00:12:41,430 --> 00:12:43,620 So this is for prenatal testing. 271 00:12:43,620 --> 00:12:45,990 It's a non-invasive prenatal testing, 272 00:12:45,990 --> 00:12:48,960 and it is a promising approach to prenatal genetic testing, 273 00:12:48,960 --> 00:12:50,820 reducing risk to the mother and fetus 274 00:12:50,820 --> 00:12:52,500 from other invasive procedures. 275 00:12:52,500 --> 00:12:55,440 So what happens is you basically take a blood sample 276 00:12:55,440 --> 00:12:56,590 from the pregnant woman 277 00:12:58,228 --> 00:12:59,610 and also taking a sample 278 00:12:59,610 --> 00:13:01,350 from the father and the mother, 279 00:13:01,350 --> 00:13:05,790 they can basically separate out the DNA 280 00:13:05,790 --> 00:13:07,320 that's present in the mother 281 00:13:07,320 --> 00:13:09,690 that must have come from the fetus. 282 00:13:09,690 --> 00:13:13,980 So this is blood that was mixed in in the placenta 283 00:13:13,980 --> 00:13:16,980 and is basically in the mother's bloodstream. 284 00:13:16,980 --> 00:13:20,100 And this is DNA from the fetus 285 00:13:20,100 --> 00:13:22,200 and not from the mother. 286 00:13:22,200 --> 00:13:25,410 So it can be positively identified, separated out, 287 00:13:25,410 --> 00:13:28,380 and from that they can actually do all sorts of testing. 288 00:13:28,380 --> 00:13:30,930 Right now, it is being used 289 00:13:30,930 --> 00:13:34,470 to test for aneuploidies 290 00:13:34,470 --> 00:13:38,070 and may be more effective 291 00:13:38,070 --> 00:13:39,540 and actually more accurate 292 00:13:39,540 --> 00:13:44,540 than some other types of genetic testing 293 00:13:45,480 --> 00:13:46,830 in the prenatal setting. 294 00:13:46,830 --> 00:13:49,590 And certainly carries with it far fewer risks 295 00:13:49,590 --> 00:13:51,630 given that it's just simply a blood draw 296 00:13:51,630 --> 00:13:54,810 as opposed to an amniocentesis. 297 00:13:54,810 --> 00:13:57,840 So this is gaining in popularity. 298 00:13:57,840 --> 00:14:00,780 I would not say it is mainstream at this point, 299 00:14:00,780 --> 00:14:03,690 but certainly I think it is headed in that direction, 300 00:14:03,690 --> 00:14:06,750 and given more time and clinical support, 301 00:14:06,750 --> 00:14:11,040 I do actually believe this will be heading into common use 302 00:14:11,040 --> 00:14:13,083 in, say, the next five years or so. 303 00:14:14,610 --> 00:14:16,110 So moving on to newborn screening 304 00:14:16,110 --> 00:14:18,090 and genetic testing. 305 00:14:18,090 --> 00:14:20,310 Newborn screening is mandated by the state. 306 00:14:20,310 --> 00:14:21,630 In Vermont, parents have a right 307 00:14:21,630 --> 00:14:23,730 to refuse screening for any reason. 308 00:14:23,730 --> 00:14:26,250 Screening looks for both protein abnormalities 309 00:14:26,250 --> 00:14:29,797 and genetic abnormalities or diseases. 310 00:14:29,797 --> 00:14:33,990 The way the list of diseases is set 311 00:14:33,990 --> 00:14:38,070 for what is actually assessed in newborn screening 312 00:14:38,070 --> 00:14:40,650 is influenced by the Wilson and Jungner 313 00:14:40,650 --> 00:14:42,030 classic screening criteria, 314 00:14:42,030 --> 00:14:43,870 which include that the conditions 315 00:14:44,730 --> 00:14:47,040 present serious health problems, 316 00:14:47,040 --> 00:14:50,370 have accepted treatment, can be diagnosed, 317 00:14:50,370 --> 00:14:53,850 have recognizable, latent, or early-onset symptoms. 318 00:14:53,850 --> 00:14:56,183 So it would only be something that would come up, 319 00:14:57,390 --> 00:15:02,130 either present already or soon after the child is born. 320 00:15:02,130 --> 00:15:03,480 Have a suitable test 321 00:15:03,480 --> 00:15:05,403 acceptable to the population, 322 00:15:07,416 --> 00:15:10,020 have a well-understood natural history for the condition, 323 00:15:10,020 --> 00:15:12,690 agreed policy who is treated for the condition, 324 00:15:12,690 --> 00:15:15,720 the cost of testing and treatment is balanced, 325 00:15:15,720 --> 00:15:18,240 and the case finding is continuous. 326 00:15:18,240 --> 00:15:20,490 So meeting these criteria, 327 00:15:20,490 --> 00:15:24,240 the state of Vermont has some 30 odd different conditions 328 00:15:24,240 --> 00:15:25,560 that are tested for 329 00:15:25,560 --> 00:15:28,173 as standard practice in newborn screening. 330 00:15:29,640 --> 00:15:31,050 So what are we looking to in the future 331 00:15:31,050 --> 00:15:32,250 of newborn screening? 332 00:15:32,250 --> 00:15:33,900 Well, with whole-genome sequencing 333 00:15:33,900 --> 00:15:36,540 becoming readily available and cost-effective, 334 00:15:36,540 --> 00:15:41,540 the possibility of newborn genome sequencing becomes real. 335 00:15:42,000 --> 00:15:44,550 Now, I want you to think about that. 336 00:15:44,550 --> 00:15:45,990 What does that actually mean? 337 00:15:45,990 --> 00:15:47,040 What am I saying here? 338 00:15:47,040 --> 00:15:51,300 What I'm saying is it's not science fiction 339 00:15:51,300 --> 00:15:55,500 to imagine that at least in the near future 340 00:15:55,500 --> 00:15:57,130 we'll have the possibility 341 00:15:58,320 --> 00:16:03,320 to have basically at the time a baby is born 342 00:16:03,570 --> 00:16:05,400 the normal heel prick. 343 00:16:05,400 --> 00:16:07,110 So blood is drawn. 344 00:16:07,110 --> 00:16:09,210 That not only could it be scanned 345 00:16:09,210 --> 00:16:13,740 for these different enzyme tests, protein assays 346 00:16:13,740 --> 00:16:16,110 that are commonly done in newborn screening, 347 00:16:16,110 --> 00:16:18,150 they could also actually sequence 348 00:16:18,150 --> 00:16:19,773 the newborn's entire genome. 349 00:16:20,640 --> 00:16:23,673 Sequence the whole genome and then have it on file. 350 00:16:24,510 --> 00:16:26,940 Okay, well, what do you do with that information? 351 00:16:26,940 --> 00:16:29,430 How is that information stored? 352 00:16:29,430 --> 00:16:30,603 How do we interpret it? 353 00:16:31,830 --> 00:16:33,840 These are all very important questions. 354 00:16:33,840 --> 00:16:36,660 Now, certainly here it's important to balance 355 00:16:36,660 --> 00:16:38,880 that risk versus benefit. 356 00:16:38,880 --> 00:16:41,730 As of today, what would be the benefits 357 00:16:41,730 --> 00:16:45,063 of having whole-genome sequencing for every newborn? 358 00:16:46,050 --> 00:16:49,020 Honestly, I don't think those would outweigh the risks 359 00:16:49,020 --> 00:16:49,853 at this point, 360 00:16:49,853 --> 00:16:53,400 given that we don't have enough information 361 00:16:53,400 --> 00:16:57,030 to be able to carefully and accurately interpret 362 00:16:57,030 --> 00:16:59,190 all of that information 363 00:16:59,190 --> 00:17:01,500 coming from a whole-genome sequencing. 364 00:17:01,500 --> 00:17:04,980 That's not to say we're not on the path to that 365 00:17:04,980 --> 00:17:07,290 because certainly that could be the case. 366 00:17:07,290 --> 00:17:10,590 There may be certain genetic conditions 367 00:17:10,590 --> 00:17:13,830 where we could easily and definitively 368 00:17:13,830 --> 00:17:16,590 check from a whole-genome sequencing. 369 00:17:16,590 --> 00:17:18,930 But then what do you do with the rest of that information? 370 00:17:18,930 --> 00:17:20,073 Is it stored? 371 00:17:21,060 --> 00:17:25,920 Is it kept basically under lock and key 372 00:17:25,920 --> 00:17:27,810 until the child is of age 373 00:17:27,810 --> 00:17:30,780 to decide if he or she wants to know that information? 374 00:17:30,780 --> 00:17:32,040 Who provides consent? 375 00:17:32,040 --> 00:17:34,170 Would it be the parents 376 00:17:34,170 --> 00:17:36,390 at the time that the child is born? 377 00:17:36,390 --> 00:17:39,090 And would it be for all information 378 00:17:39,090 --> 00:17:41,550 or only for information 379 00:17:41,550 --> 00:17:44,040 that would be relevant to diseases 380 00:17:44,040 --> 00:17:47,190 that may present during childhood 381 00:17:47,190 --> 00:17:49,281 before the child would be of age 382 00:17:49,281 --> 00:17:53,100 to autonomously be able to decide 383 00:17:53,100 --> 00:17:55,710 whether or not they want that information themselves? 384 00:17:55,710 --> 00:17:59,040 So many, many, many ethical questions come up 385 00:17:59,040 --> 00:18:00,090 when we start talking about this. 386 00:18:00,090 --> 00:18:03,450 But it's important to start thinking about these right now, 387 00:18:03,450 --> 00:18:05,976 even though, yes, it's true, 388 00:18:05,976 --> 00:18:10,950 we're not doing whole-genome sequencing on newborns today. 389 00:18:10,950 --> 00:18:13,350 But that's not to say it won't happen, 390 00:18:13,350 --> 00:18:15,060 and that's not to say it's a bad thing. 391 00:18:15,060 --> 00:18:15,900 It's simply to say 392 00:18:15,900 --> 00:18:17,880 that there are ethical considerations 393 00:18:17,880 --> 00:18:20,640 which we need to address 394 00:18:20,640 --> 00:18:22,320 and start thinking about today 395 00:18:22,320 --> 00:18:25,440 so that in the future we can be prepared 396 00:18:25,440 --> 00:18:28,230 for what might come 397 00:18:28,230 --> 00:18:32,310 and be prepared to utilize these technologies 398 00:18:32,310 --> 00:18:33,630 in a beneficial way 399 00:18:33,630 --> 00:18:35,710 that minimizes the risk and harm 400 00:18:37,470 --> 00:18:39,120 while really maximizing the benefit 401 00:18:39,120 --> 00:18:42,420 to the individual and to society as well. 402 00:18:42,420 --> 00:18:44,730 So that's just some food for thought 403 00:18:44,730 --> 00:18:47,430 on the future of newborn screening 404 00:18:47,430 --> 00:18:49,353 and where that might be headed. 405 00:18:50,730 --> 00:18:54,450 So moving on now up the lifecycle 406 00:18:54,450 --> 00:18:56,250 to the pediatric setting. 407 00:18:56,250 --> 00:18:58,347 Pediatric genetic testing recommendations. 408 00:18:58,347 --> 00:19:02,130 And these are coming from the American Academy of Pediatrics 409 00:19:02,130 --> 00:19:05,520 and have provided their specific recommendations 410 00:19:05,520 --> 00:19:06,720 in the extended form 411 00:19:06,720 --> 00:19:10,440 and the reading folder for this week too. 412 00:19:10,440 --> 00:19:11,850 Children presenting with symptoms 413 00:19:11,850 --> 00:19:13,380 consistent with genetic disease 414 00:19:13,380 --> 00:19:14,700 may, with parental consent, 415 00:19:14,700 --> 00:19:17,940 undergo genetic testing to aid in diagnosis. 416 00:19:17,940 --> 00:19:19,380 The American Academy of Pediatrics 417 00:19:19,380 --> 00:19:21,750 recommends the principal factor 418 00:19:21,750 --> 00:19:23,910 in making the decision for genetic testing 419 00:19:23,910 --> 00:19:27,360 is whether it is in the best interest of the child. 420 00:19:27,360 --> 00:19:30,510 Because really it is preferred 421 00:19:30,510 --> 00:19:34,800 to, when possible, delay genetic testing 422 00:19:34,800 --> 00:19:39,800 to a time when the child has grown up to an adult 423 00:19:40,890 --> 00:19:44,744 and has the capacity to make an informed decision 424 00:19:44,744 --> 00:19:47,190 for his or herself. 425 00:19:47,190 --> 00:19:48,450 Predictive genetic testing 426 00:19:48,450 --> 00:19:50,220 is only recommended for those diseases 427 00:19:50,220 --> 00:19:53,910 with onset or possible intervention during childhood 428 00:19:53,910 --> 00:19:54,990 with parental consent 429 00:19:54,990 --> 00:19:57,723 and, when possible, with child assent as well. 430 00:19:58,680 --> 00:20:01,110 Adult onset predictive disease testing 431 00:20:01,110 --> 00:20:03,030 is not generally deemed to be 432 00:20:03,030 --> 00:20:05,220 in the best interest of the child 433 00:20:05,220 --> 00:20:06,840 because, first of all, 434 00:20:06,840 --> 00:20:08,250 what are you gonna do with that information? 435 00:20:08,250 --> 00:20:11,130 If if it's something like Huntington's disease, for example, 436 00:20:11,130 --> 00:20:12,360 which doesn't have onset 437 00:20:12,360 --> 00:20:15,330 until a person is in their thirties or forties, 438 00:20:15,330 --> 00:20:16,710 what would a child 439 00:20:16,710 --> 00:20:21,000 at the age of 5 or 6 or 10 or even 15 440 00:20:21,000 --> 00:20:23,260 do with that information? 441 00:20:23,260 --> 00:20:28,260 It would be preferred to allow the child to develop, 442 00:20:28,350 --> 00:20:30,690 again, to the point when they're an adult, 443 00:20:30,690 --> 00:20:33,780 when they can make that decision for themselves. 444 00:20:33,780 --> 00:20:34,920 Carrier status testing 445 00:20:34,920 --> 00:20:37,080 is also generally not pursued in children, 446 00:20:37,080 --> 00:20:39,090 as it's only relevant for family planning 447 00:20:39,090 --> 00:20:39,990 for the individual. 448 00:20:39,990 --> 00:20:41,790 And that's when that's the case. 449 00:20:41,790 --> 00:20:45,240 So when we were talking about the sickle cell anemia 450 00:20:45,240 --> 00:20:46,380 versus sickle cell trait, 451 00:20:46,380 --> 00:20:48,630 so individuals who are technically carriers 452 00:20:48,630 --> 00:20:50,350 for sickle cell anemia 453 00:20:51,270 --> 00:20:53,280 have what's called sickle cell trait, 454 00:20:53,280 --> 00:20:57,960 and they may have some specific health concerns themselves. 455 00:20:57,960 --> 00:20:59,580 And so it may be beneficial 456 00:20:59,580 --> 00:21:02,493 for a child to be tested for that, 457 00:21:08,714 --> 00:21:11,010 if they're, for example, 458 00:21:11,010 --> 00:21:13,740 going to, say, be on a sports team 459 00:21:13,740 --> 00:21:15,240 or a situation 460 00:21:15,240 --> 00:21:20,010 where they're going to potentially face dehydration 461 00:21:20,010 --> 00:21:21,900 and the issues that may come along with that. 462 00:21:21,900 --> 00:21:25,680 So genetic testing in that scenario 463 00:21:25,680 --> 00:21:30,630 might be considered not for carrier status in particular 464 00:21:30,630 --> 00:21:32,730 in terms of making reproductive decisions, 465 00:21:32,730 --> 00:21:36,393 but for the health of the child at the time. 466 00:21:37,710 --> 00:21:41,010 All right, so moving on to adult population genetic testing. 467 00:21:41,010 --> 00:21:42,930 Genetic diseases with adult onset 468 00:21:42,930 --> 00:21:44,910 may be tested for in the adult population 469 00:21:44,910 --> 00:21:46,290 and those who have a family history 470 00:21:46,290 --> 00:21:47,670 and have decided to do so. 471 00:21:47,670 --> 00:21:49,440 So those who are well-informed 472 00:21:49,440 --> 00:21:52,740 of what the test will and will not show 473 00:21:52,740 --> 00:21:54,270 or may or may not show 474 00:21:54,270 --> 00:21:57,840 and have a plan, have an understanding of, 475 00:21:57,840 --> 00:21:59,910 okay, well, what are you going to do 476 00:21:59,910 --> 00:22:01,277 if the results are positive, 477 00:22:01,277 --> 00:22:02,790 if the results are negative, 478 00:22:02,790 --> 00:22:05,310 if the results are inconclusive? 479 00:22:05,310 --> 00:22:07,290 Huntington's disease is an autosomal-dominant 480 00:22:07,290 --> 00:22:08,670 neurodegenerative disease 481 00:22:08,670 --> 00:22:10,800 a patient may choose to be tested for 482 00:22:10,800 --> 00:22:12,630 if one of his or her parents or grandparents 483 00:22:12,630 --> 00:22:14,043 had Huntington's disease. 484 00:22:15,300 --> 00:22:18,390 There are other ethical considerations here as well. 485 00:22:18,390 --> 00:22:20,940 As I mentioned, talking through all the possible results 486 00:22:20,940 --> 00:22:24,600 and what the patient would do with each of those results. 487 00:22:24,600 --> 00:22:27,030 This is, again, something that falls nicely 488 00:22:27,030 --> 00:22:30,270 in the realm of genetic counselors where they're available 489 00:22:30,270 --> 00:22:34,743 and can talk to a patient before testing. 490 00:22:35,700 --> 00:22:38,220 Because that way they can come up with a plan, 491 00:22:38,220 --> 00:22:40,620 come up with an understanding of what they're going to do, 492 00:22:40,620 --> 00:22:43,230 and it won't be such a surprise or shock 493 00:22:43,230 --> 00:22:44,280 one way or the other 494 00:22:44,280 --> 00:22:46,293 depending upon how the results come out. 495 00:22:47,790 --> 00:22:49,350 And for something like Huntington's disease, 496 00:22:49,350 --> 00:22:52,710 it's possible that, say, you have a person 497 00:22:52,710 --> 00:22:57,300 who is 18 or 19 years old, so an adult, 498 00:22:57,300 --> 00:23:01,200 and let's say he is, 499 00:23:01,200 --> 00:23:02,310 I think I gave this example, 500 00:23:02,310 --> 00:23:04,866 I may have given this example last week as well, 501 00:23:04,866 --> 00:23:08,673 but this is actually a real example as well. 502 00:23:12,392 --> 00:23:15,783 He knows that his grandfather had Huntington disease, 503 00:23:17,550 --> 00:23:18,720 on his mother's side, 504 00:23:18,720 --> 00:23:21,660 but his mother's never been tested for it. 505 00:23:21,660 --> 00:23:24,150 And his mother is, say, 35 years old. 506 00:23:24,150 --> 00:23:27,750 So she would just be at the stage 507 00:23:27,750 --> 00:23:29,940 where she might start being symptomatic 508 00:23:29,940 --> 00:23:31,617 but may not be diagnosed yet, 509 00:23:31,617 --> 00:23:33,480 and so she doesn't want to know. 510 00:23:33,480 --> 00:23:35,910 Well, if the son gets tested who's now an adult 511 00:23:35,910 --> 00:23:38,010 and if he finds out he does have Huntington's disease, 512 00:23:38,010 --> 00:23:40,110 then that means necessarily his mother 513 00:23:40,110 --> 00:23:41,790 also has Huntington's disease. 514 00:23:41,790 --> 00:23:43,440 She must. 515 00:23:43,440 --> 00:23:44,760 Because it's a dominant disorder. 516 00:23:44,760 --> 00:23:48,120 So that gives him some information about his mother 517 00:23:48,120 --> 00:23:50,640 that she did not necessarily consent to. 518 00:23:50,640 --> 00:23:52,500 So there are many ethical considerations. 519 00:23:52,500 --> 00:23:54,030 So in talking to the patient 520 00:23:54,030 --> 00:23:56,010 and talking through each of those 521 00:23:56,010 --> 00:23:58,050 and discussing what is he going to do 522 00:23:58,050 --> 00:23:59,550 if the results come back positive, 523 00:23:59,550 --> 00:24:00,690 the results come back negative, 524 00:24:00,690 --> 00:24:02,700 if the results come back inconclusive 525 00:24:02,700 --> 00:24:05,010 can help to generate a plan 526 00:24:05,010 --> 00:24:07,860 and can take away some of the anxiety 527 00:24:07,860 --> 00:24:09,840 and uncertainty around it 528 00:24:09,840 --> 00:24:10,673 for the patient 529 00:24:10,673 --> 00:24:12,170 and make things go a bit smoother. 530 00:24:13,320 --> 00:24:15,660 Cancer predisposition testing may be recommended 531 00:24:15,660 --> 00:24:17,520 for those with a family history of cancer 532 00:24:17,520 --> 00:24:19,500 or red flags of heritable cancer, 533 00:24:19,500 --> 00:24:21,180 and carrier status may be tested 534 00:24:21,180 --> 00:24:22,950 in those planning to have children 535 00:24:22,950 --> 00:24:25,950 or those who are sexually active 536 00:24:25,950 --> 00:24:30,690 and are interested in better understanding 537 00:24:30,690 --> 00:24:32,703 their carrier status. 538 00:24:34,500 --> 00:24:36,720 In the geriatric population, 539 00:24:36,720 --> 00:24:37,830 Alzheimer's disease, 540 00:24:37,830 --> 00:24:40,140 age-related macular degeneration, and cancer 541 00:24:40,140 --> 00:24:41,790 are common age-related diseases 542 00:24:41,790 --> 00:24:44,520 with a demonstrated genetic component. 543 00:24:44,520 --> 00:24:45,960 But at the same time, 544 00:24:45,960 --> 00:24:47,820 there also are spontaneous cases, 545 00:24:47,820 --> 00:24:50,550 many spontaneous cases of these diseases. 546 00:24:50,550 --> 00:24:52,380 As an individual ages, 547 00:24:52,380 --> 00:24:55,740 the chance that this is happening 548 00:24:55,740 --> 00:25:00,740 more because of a patient being older 549 00:25:01,080 --> 00:25:03,870 as opposed to it being something 550 00:25:03,870 --> 00:25:06,630 that has a strong genetic component increases. 551 00:25:06,630 --> 00:25:11,130 So Alzheimer's disease genetic testing 552 00:25:11,130 --> 00:25:13,200 is restricted to select alleles 553 00:25:13,200 --> 00:25:15,570 demonstrated to contribute to early onset. 554 00:25:15,570 --> 00:25:18,330 So that would be Alzheimer's disease 555 00:25:18,330 --> 00:25:21,600 starting between 60 and 65 years old, 556 00:25:21,600 --> 00:25:23,760 not late-onset Alzheimer's disease. 557 00:25:23,760 --> 00:25:27,780 So if a patient comes in and says 558 00:25:27,780 --> 00:25:29,760 their 85-year-old grandmother 559 00:25:29,760 --> 00:25:31,470 was diagnosed with Alzheimer's disease, 560 00:25:31,470 --> 00:25:33,780 it's important of course to note that 561 00:25:33,780 --> 00:25:35,580 in their family history. 562 00:25:35,580 --> 00:25:38,610 But it's also very, very important to note the age 563 00:25:38,610 --> 00:25:43,610 of the family member at the age of diagnosis. 564 00:25:44,130 --> 00:25:46,560 So that way it can be a little clearer 565 00:25:46,560 --> 00:25:51,000 if it was maybe more related to age as opposed to genetics. 566 00:25:51,000 --> 00:25:54,030 And while genetic testing may not improve clinical care 567 00:25:54,030 --> 00:25:56,910 for a patient already diagnosed with the disease, 568 00:25:56,910 --> 00:25:58,980 it can inform the relatives of the patient 569 00:25:58,980 --> 00:26:00,840 that they may be at increased risk. 570 00:26:00,840 --> 00:26:02,580 And this also helps in the interpretation 571 00:26:02,580 --> 00:26:05,370 of genetic testing for family members. 572 00:26:05,370 --> 00:26:09,390 So if there's a record of the specific allele, 573 00:26:09,390 --> 00:26:12,210 which mutation is found in the family 574 00:26:12,210 --> 00:26:13,230 that's been associated 575 00:26:13,230 --> 00:26:14,970 with Alzheimer's disease, for example, 576 00:26:14,970 --> 00:26:18,390 if a person is tested for the disease 577 00:26:18,390 --> 00:26:21,870 and it comes back that they share that same allele, 578 00:26:21,870 --> 00:26:25,200 then it's much easier to interpret those results 579 00:26:25,200 --> 00:26:28,500 as, in fact, contributing to Alzheimer's disease 580 00:26:28,500 --> 00:26:30,030 potentially in that person. 581 00:26:30,030 --> 00:26:32,100 As opposed to what happens, 582 00:26:32,100 --> 00:26:35,370 actually not uncommonly, in genetic testing 583 00:26:35,370 --> 00:26:37,320 where we the results come back 584 00:26:37,320 --> 00:26:41,790 and indicate it is inconclusive. 585 00:26:41,790 --> 00:26:46,790 Well, if you have already a family history of it, 586 00:26:46,890 --> 00:26:48,549 you've identified 587 00:26:48,549 --> 00:26:51,660 in certain family members that have the disease 588 00:26:51,660 --> 00:26:53,400 which alleles they have, 589 00:26:53,400 --> 00:26:54,510 then you can match that up 590 00:26:54,510 --> 00:26:57,210 to whether or not the other family members 591 00:26:57,210 --> 00:26:58,470 have those specific alleles. 592 00:26:58,470 --> 00:27:02,190 It just makes it much easier to understand the implications 593 00:27:02,190 --> 00:27:04,563 of the genetic test results. 594 00:27:06,240 --> 00:27:09,000 And that leads us to VUSs. 595 00:27:09,000 --> 00:27:13,260 So variants of unknown significance. 596 00:27:13,260 --> 00:27:16,410 Well, this is a tough one to explain 597 00:27:16,410 --> 00:27:18,450 because you can imagine 598 00:27:18,450 --> 00:27:20,910 a patient has talked through 599 00:27:20,910 --> 00:27:22,683 and thought about genetic testing. 600 00:27:26,207 --> 00:27:27,780 They've gone through the experience 601 00:27:27,780 --> 00:27:30,870 of really making that decision for themselves. 602 00:27:30,870 --> 00:27:31,703 And then they think, 603 00:27:31,703 --> 00:27:33,397 "Well, at least I'll know. 604 00:27:33,397 --> 00:27:35,647 "At least I will know 605 00:27:35,647 --> 00:27:38,757 "if I have this or if I don't have this." 606 00:27:39,960 --> 00:27:42,840 Well, unfortunately that's not always the case. 607 00:27:42,840 --> 00:27:43,890 That's not always the case. 608 00:27:43,890 --> 00:27:46,440 So sometimes the results come back, 609 00:27:46,440 --> 00:27:47,668 and they indicate 610 00:27:47,668 --> 00:27:51,030 that a person has a variant of unknown significance. 611 00:27:51,030 --> 00:27:52,680 And what does that mean? 612 00:27:52,680 --> 00:27:56,010 It's really difficult to interpret those results. 613 00:27:56,010 --> 00:28:00,420 Unfortunately, it basically is inconclusive. 614 00:28:00,420 --> 00:28:04,680 It neither says a patient does not have the disease 615 00:28:04,680 --> 00:28:06,120 nor does it say they do have it 616 00:28:06,120 --> 00:28:08,400 or the increased likelihood of the disease. 617 00:28:08,400 --> 00:28:12,960 So unfortunately that can be disturbing 618 00:28:12,960 --> 00:28:14,640 for the patient as well. 619 00:28:14,640 --> 00:28:16,080 That can be kind of traumatic for them 620 00:28:16,080 --> 00:28:16,913 'cause they come in 621 00:28:16,913 --> 00:28:18,770 thinking they're going to get an answer. 622 00:28:21,343 --> 00:28:24,427 "Even if it's positive result for this disease, 623 00:28:24,427 --> 00:28:25,920 "I want to know." 624 00:28:25,920 --> 00:28:29,400 But they come back and they get this kind of result. 625 00:28:29,400 --> 00:28:32,220 It can be challenging to know what to do next. 626 00:28:32,220 --> 00:28:34,770 So basically it's indicating a patient has an allele 627 00:28:34,770 --> 00:28:37,290 for a gene that has not been demonstrated conclusively 628 00:28:37,290 --> 00:28:40,470 to have either a positive or negative impact on disease. 629 00:28:40,470 --> 00:28:42,360 The result can be confusing and frustrating 630 00:28:42,360 --> 00:28:45,030 for a patient who is anticipating an answer, 631 00:28:45,030 --> 00:28:47,250 and future research may link that variant 632 00:28:47,250 --> 00:28:48,420 to a specific risk, 633 00:28:48,420 --> 00:28:49,650 but as of today, 634 00:28:49,650 --> 00:28:52,620 there's no clear way to interpret those results. 635 00:28:52,620 --> 00:28:55,860 So I think it's important upfront to inform the patient 636 00:28:55,860 --> 00:28:57,900 that that is a possible result. 637 00:28:57,900 --> 00:28:59,490 It could be positive, it could be negative, 638 00:28:59,490 --> 00:29:00,993 it could be inconclusive. 639 00:29:02,970 --> 00:29:04,680 So then the real question is, 640 00:29:04,680 --> 00:29:07,770 is it a good idea to do genetic testing? 641 00:29:07,770 --> 00:29:09,270 Well, let's take a look 642 00:29:09,270 --> 00:29:11,670 at some of the reported outcomes in patients 643 00:29:11,670 --> 00:29:13,170 following genetic testing. 644 00:29:13,170 --> 00:29:15,060 So they're following up on patients 645 00:29:15,060 --> 00:29:17,940 after they have undergone genetic testing. 646 00:29:17,940 --> 00:29:20,940 And these are just a few examples, the BRCA1/2. 647 00:29:20,940 --> 00:29:24,270 In general, there's temporary stress relieved, 648 00:29:24,270 --> 00:29:25,950 which is relieved long-term. 649 00:29:25,950 --> 00:29:29,490 So, for example, a person undergoes the BRCA1/2 test 650 00:29:29,490 --> 00:29:30,900 and it comes back positive 651 00:29:30,900 --> 00:29:34,740 that in fact they do have the BRCA1/2 alleles 652 00:29:34,740 --> 00:29:35,820 that make them 653 00:29:35,820 --> 00:29:36,930 increase their likelihood 654 00:29:36,930 --> 00:29:39,090 of developing breast or ovarian cancer. 655 00:29:39,090 --> 00:29:44,070 While there is temporary stress that a patient endures, 656 00:29:44,070 --> 00:29:46,380 long term, that stress is relieved. 657 00:29:46,380 --> 00:29:49,830 And this commonly results in increased surveillance 658 00:29:49,830 --> 00:29:52,080 and general improvement to health 659 00:29:52,080 --> 00:29:55,230 in most patients in the long term. 660 00:29:55,230 --> 00:29:56,820 In Alzheimer's disease, 661 00:29:56,820 --> 00:29:59,040 there's neutral to slightly positive impact 662 00:29:59,040 --> 00:30:00,960 on psychological health long-term 663 00:30:00,960 --> 00:30:03,570 in knowing either way, actually, 664 00:30:03,570 --> 00:30:06,070 if they have the APOE allele 665 00:30:07,650 --> 00:30:09,690 that puts them at risk 666 00:30:09,690 --> 00:30:13,110 for early-onset Alzheimer's disease or not. 667 00:30:13,110 --> 00:30:14,520 In Huntington's disease, 668 00:30:14,520 --> 00:30:18,330 short-term 7 to 10 days post-results, 669 00:30:18,330 --> 00:30:20,520 the impact worsens depression scores 670 00:30:20,520 --> 00:30:21,690 for those who test positive. 671 00:30:21,690 --> 00:30:24,960 However, depression scores improve long-term 672 00:30:24,960 --> 00:30:26,220 in the 6-to-12-month frame 673 00:30:26,220 --> 00:30:28,443 for those who test positive and negative. 674 00:30:29,730 --> 00:30:32,043 Regardless of what the results come back as, 675 00:30:33,047 --> 00:30:35,487 the patients feel better in the long term. 676 00:30:35,487 --> 00:30:37,110 And knowing, in general, 677 00:30:37,110 --> 00:30:40,470 that's obviously not the case for every specific patient, 678 00:30:40,470 --> 00:30:42,210 but when looked at on average, 679 00:30:42,210 --> 00:30:44,280 it does seem to be beneficial 680 00:30:44,280 --> 00:30:45,540 for a patient to know, 681 00:30:45,540 --> 00:30:48,630 at least in these specific conditions. 682 00:30:48,630 --> 00:30:52,140 So it's important, I think, to consider 683 00:30:52,140 --> 00:30:55,050 both the short-term and long-term impact 684 00:30:55,050 --> 00:30:56,940 that genetic test results can have. 685 00:30:56,940 --> 00:31:01,290 Because, again, remembering that genetic testing 686 00:31:01,290 --> 00:31:04,863 is unique in that it is a lifelong result. 687 00:31:05,940 --> 00:31:07,110 So we do need to consider 688 00:31:07,110 --> 00:31:09,510 both short-term and long-term implications. 689 00:31:09,510 --> 00:31:10,650 That being said, 690 00:31:10,650 --> 00:31:12,060 I think it's also important to consider 691 00:31:12,060 --> 00:31:13,830 all possible outcomes from a test, 692 00:31:13,830 --> 00:31:16,173 both negative, positive, and unknown, 693 00:31:17,199 --> 00:31:19,140 and unknown being inconclusive, 694 00:31:19,140 --> 00:31:21,780 and their impact on the approach you would take 695 00:31:21,780 --> 00:31:23,070 to the patient's care, 696 00:31:23,070 --> 00:31:25,050 positive or negative lifestyle changes 697 00:31:25,050 --> 00:31:26,490 that the patient may take, 698 00:31:26,490 --> 00:31:29,190 the patient's psychological and emotional welfare, 699 00:31:29,190 --> 00:31:31,230 and the patient's family or social group 700 00:31:31,230 --> 00:31:32,700 and how they may interact with them 701 00:31:32,700 --> 00:31:36,390 and how that might be affected by genetic test results, 702 00:31:36,390 --> 00:31:39,120 patient's understanding of his or her health and wellbeing. 703 00:31:39,120 --> 00:31:42,840 So would that be beneficial or detrimental to the patient? 704 00:31:42,840 --> 00:31:44,730 Patient's healthcare coverage and employment. 705 00:31:44,730 --> 00:31:48,690 Now, keeping in mind the extent and limitations of GINA 706 00:31:48,690 --> 00:31:51,030 that we talked about last week. 707 00:31:51,030 --> 00:31:55,050 So what will you, the patient's healthcare team 708 00:31:55,050 --> 00:31:57,180 and/or the patient do differently 709 00:31:57,180 --> 00:32:00,810 in response to each of all possible test results? 710 00:32:00,810 --> 00:32:05,460 And this was mentioned and discussed well this past week 711 00:32:05,460 --> 00:32:07,290 in the discussion board 712 00:32:07,290 --> 00:32:10,170 where exactly that query was raised. 713 00:32:10,170 --> 00:32:12,270 And I think it's so appropriate 714 00:32:12,270 --> 00:32:15,060 to think through basically what would you do differently? 715 00:32:15,060 --> 00:32:16,860 What would the patient do differently? 716 00:32:16,860 --> 00:32:20,010 How would the knowledge help them 717 00:32:20,010 --> 00:32:21,690 or help their family members? 718 00:32:21,690 --> 00:32:23,490 Even if it's not helping them directly, 719 00:32:23,490 --> 00:32:24,990 how would it help their family members? 720 00:32:24,990 --> 00:32:27,270 And weighing the costs and benefits, 721 00:32:27,270 --> 00:32:28,510 the risks and benefits 722 00:32:30,450 --> 00:32:33,690 along each of these metrics 723 00:32:33,690 --> 00:32:35,433 in both short term and long term. 724 00:32:37,140 --> 00:32:39,330 All right, so with that, summary. 725 00:32:39,330 --> 00:32:40,800 Through all stages of life, 726 00:32:40,800 --> 00:32:43,080 genetic testing requires careful consideration 727 00:32:43,080 --> 00:32:45,090 of all possible implications of results 728 00:32:45,090 --> 00:32:46,710 for the patient and family. 729 00:32:46,710 --> 00:32:48,690 Decisions and actions that may be informed 730 00:32:48,690 --> 00:32:50,460 or influenced by genetic test results 731 00:32:50,460 --> 00:32:52,590 differ depending on the life stage. 732 00:32:52,590 --> 00:32:55,050 Advances in genetic testing technologies 733 00:32:55,050 --> 00:32:56,460 and interpretation of results 734 00:32:56,460 --> 00:32:58,800 must be approached with great care, 735 00:32:58,800 --> 00:33:00,870 with ethical, social, and legal implications 736 00:33:00,870 --> 00:33:02,340 these results can have 737 00:33:02,340 --> 00:33:05,043 on the patient as a whole person. 738 00:33:06,000 --> 00:33:07,653 All right, well, with that, 739 00:33:08,837 --> 00:33:11,610 we are going to transition into the next module 740 00:33:11,610 --> 00:33:13,830 in the following week where we're going to just kind of take 741 00:33:13,830 --> 00:33:15,900 like a potpourri approach, 742 00:33:15,900 --> 00:33:17,730 and we're gonna do a little bit 743 00:33:17,730 --> 00:33:19,950 of a couple of different things. 744 00:33:19,950 --> 00:33:22,410 We're going to talk about genomics and wellness 745 00:33:22,410 --> 00:33:25,590 and some different interesting topics there 746 00:33:25,590 --> 00:33:28,080 that may be useful to you 747 00:33:28,080 --> 00:33:29,370 for you to share with your patients. 748 00:33:29,370 --> 00:33:32,970 And then we're going to just take kind of a step back 749 00:33:32,970 --> 00:33:34,920 and review the nursing competencies 750 00:33:34,920 --> 00:33:35,940 in genetics and genomics 751 00:33:35,940 --> 00:33:37,830 we looked at in the very first week 752 00:33:37,830 --> 00:33:40,650 and see where we are with those 753 00:33:40,650 --> 00:33:45,060 and kind of assess and take it from there. 754 00:33:45,060 --> 00:33:48,420 All right, well, thanks very much for your attention, 755 00:33:48,420 --> 00:33:50,480 and I look forward to talking with you all 756 00:33:50,480 --> 00:33:51,690 on the discussion board. 757 00:33:51,690 --> 00:33:52,523 Take care.