1 00:00:00,330 --> 00:00:02,400 [Instructor] In this module, we're going to 2 00:00:02,400 --> 00:00:04,320 go over some of the basics of the ethical, 3 00:00:04,320 --> 00:00:05,910 legal, and social implications 4 00:00:05,910 --> 00:00:07,350 of genetics and genomics. 5 00:00:07,350 --> 00:00:10,500 And I've titled this as a primer as we're not going 6 00:00:10,500 --> 00:00:13,020 to go into significant amount of detail in any one 7 00:00:13,020 --> 00:00:16,140 of these components, but it's more to raise your level 8 00:00:16,140 --> 00:00:18,150 of awareness and to get you thinking 9 00:00:18,150 --> 00:00:21,270 about these different issues and their implications. 10 00:00:21,270 --> 00:00:24,330 And some of these that are specifically related to genetic 11 00:00:24,330 --> 00:00:25,983 and genomic information, 12 00:00:26,850 --> 00:00:31,200 that's even more distinct from other health information that 13 00:00:31,200 --> 00:00:34,740 I'm sure you've had situations where there are 14 00:00:34,740 --> 00:00:38,620 ethical, certainly ethical implications and privacy concerns 15 00:00:38,620 --> 00:00:41,820 and confidentiality concerns. 16 00:00:41,820 --> 00:00:43,230 And those are also the same 17 00:00:43,230 --> 00:00:45,214 with genetic and genomic information, 18 00:00:45,214 --> 00:00:48,660 but there are some additional considerations on top of that. 19 00:00:48,660 --> 00:00:51,630 So by way of introduction, just want to, 20 00:00:51,630 --> 00:00:54,990 to put it in the context that genomic information is central 21 00:00:54,990 --> 00:00:58,530 to each person, yet it also applies to relatives, 22 00:00:58,530 --> 00:01:01,320 future children, and even to entire ethnicities 23 00:01:01,320 --> 00:01:03,210 or races or communities. 24 00:01:03,210 --> 00:01:06,752 So while you might find out some information about a person 25 00:01:06,752 --> 00:01:11,752 through genetic testing, it also may in some ways 26 00:01:12,240 --> 00:01:14,610 provide some information about others 27 00:01:14,610 --> 00:01:17,190 who may not have given consent to, 28 00:01:17,190 --> 00:01:19,620 or may not have been asked about doing a genetic test. 29 00:01:19,620 --> 00:01:22,390 But some of their information may also become 30 00:01:23,490 --> 00:01:27,960 obvious from the genetic test results of a patient. 31 00:01:27,960 --> 00:01:31,290 So this certainly will raise some ethical 32 00:01:31,290 --> 00:01:36,290 considerations that are specific to genetic information. 33 00:01:36,720 --> 00:01:39,120 Genetic and genomic information requires additional 34 00:01:39,120 --> 00:01:42,570 consideration for its impact on patients, family members, 35 00:01:42,570 --> 00:01:45,540 communities, religious groups, ethnicities and races, 36 00:01:45,540 --> 00:01:47,790 and society as a whole. 37 00:01:47,790 --> 00:01:51,030 Genetic diseases and predispositions cannot be cured 38 00:01:51,030 --> 00:01:53,280 and some genetic diseases are degenerative 39 00:01:53,280 --> 00:01:56,256 or have limited effective therapeutic interventions. 40 00:01:56,256 --> 00:01:58,480 And this will certainly play a role 41 00:01:59,400 --> 00:02:02,790 in patients making those decisions about what they want 42 00:02:02,790 --> 00:02:04,650 to know and what they don't want to know. 43 00:02:04,650 --> 00:02:07,710 And, you know, for some, I think, I mean this 44 00:02:07,710 --> 00:02:10,170 for everyone, this is just a personal decision. 45 00:02:10,170 --> 00:02:11,310 How much do you want 46 00:02:11,310 --> 00:02:14,100 to know not just about your health status now, 47 00:02:14,100 --> 00:02:14,933 but in the future? 48 00:02:14,933 --> 00:02:17,760 And if there isn't an intervention as of now 49 00:02:17,760 --> 00:02:21,100 that can directly mitigate any of 50 00:02:22,496 --> 00:02:25,980 the health concerns that are coming down the road 51 00:02:25,980 --> 00:02:28,470 that can be predicted from genetic testing, 52 00:02:28,470 --> 00:02:31,110 how does that affect a patient's decision about whether 53 00:02:31,110 --> 00:02:32,580 or not they want to be tested? 54 00:02:32,580 --> 00:02:34,170 And again, it gets back to the question 55 00:02:34,170 --> 00:02:35,970 of not only do they want to be tested, 56 00:02:35,970 --> 00:02:38,550 but would their family members also want 57 00:02:38,550 --> 00:02:41,490 to have the information that this is something 58 00:02:41,490 --> 00:02:44,430 that's running in, that this is, you know, genetic mutation 59 00:02:44,430 --> 00:02:47,640 or a modification that is running in their family. 60 00:02:47,640 --> 00:02:50,470 So certainly that can have some strong 61 00:02:51,330 --> 00:02:54,450 psychological impacts and special care and consideration 62 00:02:54,450 --> 00:02:56,970 must be taken when collecting, testing, 63 00:02:56,970 --> 00:02:59,580 interpreting and explaining genetic information 64 00:02:59,580 --> 00:03:01,740 as always, you know, it needs to be done 65 00:03:01,740 --> 00:03:06,390 in the context of each particular patient being 66 00:03:06,390 --> 00:03:09,543 unique and their specific circumstances. 67 00:03:11,040 --> 00:03:14,490 So we're talking about ELSI, that's just short for ethical, 68 00:03:14,490 --> 00:03:16,110 legal and social implications, 69 00:03:16,110 --> 00:03:18,480 and this is an acronym that's used a lot 70 00:03:18,480 --> 00:03:21,060 for in genomics. 71 00:03:21,060 --> 00:03:24,330 There was a group that was assembled 72 00:03:24,330 --> 00:03:27,210 to specifically monitor the ethical, legal, 73 00:03:27,210 --> 00:03:29,940 and social implications of the human genome project 74 00:03:29,940 --> 00:03:32,100 as that was progressing, significant amount 75 00:03:32,100 --> 00:03:34,680 of the budget was set aside for that group 76 00:03:34,680 --> 00:03:37,890 to continuously monitor what was going on, 77 00:03:37,890 --> 00:03:40,080 how these technologies were being employed, 78 00:03:40,080 --> 00:03:43,440 and the implications both those that could be predicted 79 00:03:43,440 --> 00:03:47,670 and those that that occurred with, that hadn't been thought 80 00:03:47,670 --> 00:03:50,040 of prior to introduction of these technologies. 81 00:03:50,040 --> 00:03:54,000 So these groups have been around for some time 82 00:03:54,000 --> 00:03:56,770 and continuously are evaluating situations 83 00:03:56,770 --> 00:03:59,595 and putting out recommendations 84 00:03:59,595 --> 00:04:03,510 for the implementation of these technologies 85 00:04:03,510 --> 00:04:06,660 or their regulation, any laws that need 86 00:04:06,660 --> 00:04:09,540 to be passed in order to protect, 87 00:04:09,540 --> 00:04:11,610 to protect citizens from any 88 00:04:11,610 --> 00:04:13,383 infringements upon their rights. 89 00:04:14,530 --> 00:04:17,610 And also to, you know, to ensure 90 00:04:17,610 --> 00:04:20,610 that our society is moving in what we deem, 91 00:04:20,610 --> 00:04:24,690 as a society, as an ethical direction with this type of, 92 00:04:24,690 --> 00:04:26,490 with these types of advances. 93 00:04:26,490 --> 00:04:29,400 So as with all ethical considerations, it is critical 94 00:04:29,400 --> 00:04:33,120 to keep in mind the issues of justice, privacy, autonomy, 95 00:04:33,120 --> 00:04:35,070 beneficence, and non-maleficence. 96 00:04:35,070 --> 00:04:37,140 And it's always a balance with these 97 00:04:37,140 --> 00:04:41,310 and rarely is it clear that you can 98 00:04:41,310 --> 00:04:44,050 find a situation where all of these 99 00:04:45,652 --> 00:04:48,034 are in everyone's best interest. 100 00:04:48,034 --> 00:04:51,806 But it really is just a balance of finding a way 101 00:04:51,806 --> 00:04:56,790 to end up where there's the greatest good 102 00:04:56,790 --> 00:04:58,680 and the least amount of harm. 103 00:04:58,680 --> 00:05:00,960 Considerations given to both intended 104 00:05:00,960 --> 00:05:03,030 and unintended consequences, 105 00:05:03,030 --> 00:05:05,160 positive and negative outcomes and effects 106 00:05:05,160 --> 00:05:08,040 on those who are advantaged and disadvantaged 107 00:05:08,040 --> 00:05:09,960 with the best solutions being those 108 00:05:09,960 --> 00:05:13,170 that least infringe on the values of those involved. 109 00:05:13,170 --> 00:05:15,930 So of course these are issues 110 00:05:15,930 --> 00:05:17,490 that I have no doubt you deal with 111 00:05:17,490 --> 00:05:19,930 regularly in your practices 112 00:05:21,149 --> 00:05:24,480 and have significant amount of experience 113 00:05:24,480 --> 00:05:26,121 and understanding with it. 114 00:05:26,121 --> 00:05:29,040 The genetic considerations, it's no, 115 00:05:29,040 --> 00:05:30,930 it's no different from those in that they, 116 00:05:30,930 --> 00:05:32,700 it still requires the balance 117 00:05:32,700 --> 00:05:36,270 and consideration of all the different parties 118 00:05:36,270 --> 00:05:37,500 that may be involved 119 00:05:37,500 --> 00:05:40,470 and the intended unintended consequences. 120 00:05:40,470 --> 00:05:44,220 Here, my goal is more to just raise the awareness of 121 00:05:44,220 --> 00:05:47,040 what some of those intended and unintended consequences 122 00:05:47,040 --> 00:05:51,150 may be and who it may affect 123 00:05:51,150 --> 00:05:53,403 and beyond even just the patient. 124 00:05:54,570 --> 00:05:56,940 So it's of course necessary to balance privacy 125 00:05:56,940 --> 00:06:00,270 and confidentiality of patient information with the duty 126 00:06:00,270 --> 00:06:03,960 to warn of a significant health risk which may be mitigated 127 00:06:03,960 --> 00:06:05,370 through health interventions 128 00:06:05,370 --> 00:06:07,470 to relatives against a patient's wishes. 129 00:06:07,470 --> 00:06:10,260 So this is one of those challenging ethical situations. 130 00:06:10,260 --> 00:06:14,610 And honestly there isn't a clear guidance 131 00:06:14,610 --> 00:06:18,090 that can be provided so that in every situation 132 00:06:18,090 --> 00:06:20,370 you'll have an absolute answer. 133 00:06:20,370 --> 00:06:25,080 But the recommended approach is really just 134 00:06:25,080 --> 00:06:26,550 discussing possible outcomes 135 00:06:26,550 --> 00:06:27,990 with the patient before testing 136 00:06:27,990 --> 00:06:30,840 so he or she is aware of what the tests may reveal 137 00:06:30,840 --> 00:06:34,770 about relatives and so that you can potentially reduce 138 00:06:34,770 --> 00:06:38,010 those issues when the test results come back in. 139 00:06:38,010 --> 00:06:40,280 And I know there are many situations in which 140 00:06:40,280 --> 00:06:43,800 you may not be there when the decision is being made about 141 00:06:43,800 --> 00:06:47,400 whether a test is going to be carried out on a patient. 142 00:06:47,400 --> 00:06:49,740 And so you may not be a part of those conversations 143 00:06:49,740 --> 00:06:52,050 if those conversations even existed for a patient, 144 00:06:52,050 --> 00:06:54,247 but you may deal with the aftermath of that. 145 00:06:54,247 --> 00:06:57,068 But this is more of, in an ideal world, 146 00:06:57,068 --> 00:07:00,420 the best situation is really to discuss 147 00:07:00,420 --> 00:07:02,500 and be upfront with all of the 148 00:07:03,360 --> 00:07:07,080 possibly foreseeable intended and unintended 149 00:07:07,080 --> 00:07:09,900 results that may come from a genetic test, 150 00:07:09,900 --> 00:07:12,360 which would also include potential information about a 151 00:07:12,360 --> 00:07:14,100 patient's relatives. 152 00:07:14,100 --> 00:07:15,813 And certainly there are, 153 00:07:17,779 --> 00:07:19,380 that is up to the patient 154 00:07:19,380 --> 00:07:21,930 as to whether or not he or she would choose 155 00:07:21,930 --> 00:07:24,700 to inform his or her relatives about 156 00:07:27,180 --> 00:07:28,440 potential health consequences 157 00:07:28,440 --> 00:07:32,640 that may result from their genetic test result, 158 00:07:32,640 --> 00:07:34,080 which would tell them, for example, 159 00:07:34,080 --> 00:07:35,820 that a genetic disease is running in their family 160 00:07:35,820 --> 00:07:37,350 or is present in their family. 161 00:07:37,350 --> 00:07:38,880 Well, that also it means that there's 162 00:07:38,880 --> 00:07:42,360 a high likelihood that others in their family may also have 163 00:07:42,360 --> 00:07:44,070 this disease or have a high likelihood 164 00:07:44,070 --> 00:07:45,750 of having children with this disease. 165 00:07:45,750 --> 00:07:48,120 The recommendations really follow the idea 166 00:07:48,120 --> 00:07:51,820 that if there is something that can be done about 167 00:07:52,890 --> 00:07:54,510 either the development of the disease 168 00:07:54,510 --> 00:07:57,900 or to mitigate the disease by acting earlier, you know, 169 00:07:57,900 --> 00:08:00,333 as early as possible with that information, 170 00:08:00,333 --> 00:08:04,860 then that may raise a duty to warn. 171 00:08:04,860 --> 00:08:08,250 Also if it would result in some 172 00:08:08,250 --> 00:08:11,940 serious health implications for potential family members, 173 00:08:11,940 --> 00:08:14,580 then it certainly needs to be considered 174 00:08:14,580 --> 00:08:18,417 what the duty to warn is versus the patient decision. 175 00:08:18,417 --> 00:08:22,830 And if the patient's decision, if they can, 176 00:08:22,830 --> 00:08:25,230 if the patient is willing to reconsider potentially 177 00:08:25,230 --> 00:08:27,750 informing relatives. 178 00:08:27,750 --> 00:08:30,390 That's of course the best approach to take 179 00:08:30,390 --> 00:08:33,870 is certainly to have the patient inform their family members 180 00:08:33,870 --> 00:08:36,360 and for them to know upfront that 181 00:08:36,360 --> 00:08:38,880 what the information from their genetic test may reveal 182 00:08:38,880 --> 00:08:41,460 about their family members as well. 183 00:08:41,460 --> 00:08:43,110 And there's unfortunately no clear direction 184 00:08:43,110 --> 00:08:45,810 to just provide in every situation is with any kind 185 00:08:45,810 --> 00:08:47,970 of ethical issue that may arise. 186 00:08:47,970 --> 00:08:52,350 So this is one of communicating clearly upfront 187 00:08:52,350 --> 00:08:56,130 as much as much as you have power to do that, 188 00:08:56,130 --> 00:08:58,800 as much as you're able to do that with a patient 189 00:08:58,800 --> 00:09:01,830 before a genetic test is ordered. 190 00:09:01,830 --> 00:09:04,560 And then afterwards to discuss with the patient 191 00:09:04,560 --> 00:09:05,850 and to encourage him or her 192 00:09:05,850 --> 00:09:09,000 to communicate with family members any information 193 00:09:09,000 --> 00:09:11,553 that may be truly relevant to their health. 194 00:09:13,140 --> 00:09:15,120 So genetic testing results, 195 00:09:15,120 --> 00:09:16,770 health information about family members 196 00:09:16,770 --> 00:09:18,900 who have not given consent to testing 197 00:09:18,900 --> 00:09:21,750 may be revealed in a patient's genetic test results. 198 00:09:21,750 --> 00:09:24,210 So here's an example, if a patient tests positive 199 00:09:24,210 --> 00:09:26,190 for Huntington disease allele, 200 00:09:26,190 --> 00:09:29,670 remember, Huntington disease is a neurodegenerative disease 201 00:09:29,670 --> 00:09:32,010 that doesn't really become symptomatic 202 00:09:32,010 --> 00:09:34,440 until a patient is in his or her thirties or forties, 203 00:09:34,440 --> 00:09:37,290 but they have the disease allele from 204 00:09:37,290 --> 00:09:38,370 the moment of conception. 205 00:09:38,370 --> 00:09:41,408 So the genetic test would always come back positive even if 206 00:09:41,408 --> 00:09:44,670 they don't yet have symptoms of the disease. 207 00:09:44,670 --> 00:09:47,760 So let's say for example, a patient tests positive 208 00:09:47,760 --> 00:09:50,340 for Huntington disease allele, let's say he knows 209 00:09:50,340 --> 00:09:53,220 that there's Huntington's disease in his family, 210 00:09:53,220 --> 00:09:55,890 maybe his grandfather had Huntington's disease 211 00:09:55,890 --> 00:09:58,740 and he is concerned that, you know, 212 00:09:58,740 --> 00:10:00,090 he may have it though he, 213 00:10:00,090 --> 00:10:01,497 let's say it's from his father's side of the family, 214 00:10:01,497 --> 00:10:04,680 say his father did not want to test himself, 215 00:10:04,680 --> 00:10:06,210 does not want to know 216 00:10:06,210 --> 00:10:08,310 because there really isn't any intervention 217 00:10:08,310 --> 00:10:10,830 that can be done to prevent Huntington's disease 218 00:10:10,830 --> 00:10:11,663 from occurring. 219 00:10:11,663 --> 00:10:13,710 And so the father doesn't want to know. 220 00:10:13,710 --> 00:10:16,500 But then the son, let's say this is the patient, 221 00:10:16,500 --> 00:10:17,970 the son does want to know 222 00:10:17,970 --> 00:10:20,052 and has a Huntington's disease test 223 00:10:20,052 --> 00:10:21,810 and it comes back positive. 224 00:10:21,810 --> 00:10:25,140 This indicates that, in this case, 225 00:10:25,140 --> 00:10:28,530 given that his paternal grandfather would have Huntington's 226 00:10:28,530 --> 00:10:31,050 disease, that that means his father also must 227 00:10:31,050 --> 00:10:32,460 have it as well. 228 00:10:32,460 --> 00:10:36,120 And so now the son has possession of information, 229 00:10:36,120 --> 00:10:38,790 knows something health related about his father 230 00:10:38,790 --> 00:10:41,280 for which his father never gave consent. 231 00:10:41,280 --> 00:10:44,460 So this is the kind of information 232 00:10:44,460 --> 00:10:47,280 that can actually be very easily deduced from genetic test 233 00:10:47,280 --> 00:10:48,810 results that even a patient, 234 00:10:48,810 --> 00:10:51,060 his or herself can figure out some of these things 235 00:10:51,060 --> 00:10:52,830 without further consultation. 236 00:10:52,830 --> 00:10:57,390 So it raises again, some sticky situations potentially 237 00:10:57,390 --> 00:11:01,560 where family members are not in agreement as to wanting 238 00:11:01,560 --> 00:11:03,600 to know this kind of information. 239 00:11:03,600 --> 00:11:06,510 And potential psychological impact of genetic test results, 240 00:11:06,510 --> 00:11:09,060 both good and bad are unique for each person 241 00:11:09,060 --> 00:11:11,580 and may not be the same within a family unit. 242 00:11:11,580 --> 00:11:14,520 Some feel empowered in knowing, others may suffer depression 243 00:11:14,520 --> 00:11:16,320 or hopelessness, and there's just really a 244 00:11:16,320 --> 00:11:17,940 broad spectrum everywhere in between. 245 00:11:17,940 --> 00:11:21,027 It may result in anxiety if they don't have the test 246 00:11:21,027 --> 00:11:23,280 and say there's something running in their family. 247 00:11:23,280 --> 00:11:25,800 They don't, they haven't had a genetic test, 248 00:11:25,800 --> 00:11:28,530 but they, you know, they feel anxious in not knowing 249 00:11:28,530 --> 00:11:30,390 and they would much rather have the test 250 00:11:30,390 --> 00:11:32,010 and know one way or the other. 251 00:11:32,010 --> 00:11:35,640 For others, it may be that they just don't want to know. 252 00:11:35,640 --> 00:11:38,070 People's preferences going into it 253 00:11:38,070 --> 00:11:43,070 can certainly have an enormous impact on how 254 00:11:43,230 --> 00:11:46,710 they would respond to that kind of information 255 00:11:46,710 --> 00:11:48,030 or whether they would want 256 00:11:48,030 --> 00:11:49,780 to have a genetic test done at all. 257 00:11:50,820 --> 00:11:53,520 Religious, cultural and historical beliefs may influence 258 00:11:53,520 --> 00:11:55,320 how a patient or the family approach 259 00:11:55,320 --> 00:11:56,790 genetic testing as well. 260 00:11:56,790 --> 00:11:58,920 And I'm sure you've experienced this with some 261 00:11:58,920 --> 00:12:02,360 of your patients who either in their family, 262 00:12:02,360 --> 00:12:04,320 in their families in the past 263 00:12:04,320 --> 00:12:07,980 or in others that they know they've had bad experiences 264 00:12:07,980 --> 00:12:12,390 or there there's some beliefs 265 00:12:12,390 --> 00:12:17,190 that their information might be misused 266 00:12:17,190 --> 00:12:22,190 or that there's mistrust with healthcare providers 267 00:12:23,550 --> 00:12:25,350 or with healthcare system. 268 00:12:25,350 --> 00:12:27,220 And that certainly 269 00:12:28,495 --> 00:12:33,220 can also manifest itself in terms of their responses 270 00:12:34,496 --> 00:12:36,960 to either suggestions for genetic testing 271 00:12:36,960 --> 00:12:39,480 or to the results of their genetic tests. 272 00:12:39,480 --> 00:12:42,270 So all of these are important considerations 273 00:12:42,270 --> 00:12:43,653 to keep in mind. 274 00:12:44,670 --> 00:12:48,450 So what do we have to protect us from discrimination? 275 00:12:48,450 --> 00:12:51,870 This is called the Genetic Information Non-Discrimination 276 00:12:51,870 --> 00:12:53,880 Act or GINA for short 277 00:12:53,880 --> 00:12:56,250 and genetic discrimination, as we're defining it, 278 00:12:56,250 --> 00:12:58,770 is the misuse of genetic information. 279 00:12:58,770 --> 00:13:01,920 In 2008, GINA was passed 280 00:13:01,920 --> 00:13:05,070 to provide federal legal protection from employment 281 00:13:05,070 --> 00:13:08,130 and health insurance discrimination on the basis of genetics 282 00:13:08,130 --> 00:13:09,870 or genetic information. 283 00:13:09,870 --> 00:13:12,180 According to this federal law, it is illegal 284 00:13:12,180 --> 00:13:14,280 for health insurance providers to set prices 285 00:13:14,280 --> 00:13:16,212 or decide whether you can get health insurance 286 00:13:16,212 --> 00:13:19,830 and illegal for employers to make decisions about hiring, 287 00:13:19,830 --> 00:13:22,050 firing, job assignments or promotions 288 00:13:22,050 --> 00:13:23,940 either based on either of these 289 00:13:23,940 --> 00:13:26,070 based on genetic information. 290 00:13:26,070 --> 00:13:29,220 So there are certainly some exceptions to this 291 00:13:29,220 --> 00:13:31,110 and we'll talk about that in a moment. 292 00:13:31,110 --> 00:13:33,930 But in general, that's the spirit of the law is 293 00:13:33,930 --> 00:13:38,930 to protect citizens from loss of health insurance 294 00:13:38,940 --> 00:13:43,830 or increasing in the price cost of premiums as a result of 295 00:13:43,830 --> 00:13:47,160 genetic test results either directly for disease 296 00:13:47,160 --> 00:13:50,370 or disease susceptibility that the person does not 297 00:13:50,370 --> 00:13:51,870 yet have manifest. 298 00:13:51,870 --> 00:13:53,580 Same thing is true for employment. 299 00:13:53,580 --> 00:13:56,700 So they wouldn't want someone to say, for example, 300 00:13:56,700 --> 00:13:59,910 have a Huntington disease genetic test 301 00:13:59,910 --> 00:14:02,760 and have it come to be that their health insurance 302 00:14:02,760 --> 00:14:06,330 is suddenly canceled and they can't find employment 303 00:14:06,330 --> 00:14:09,360 because no employer wants to pay the cost 304 00:14:09,360 --> 00:14:12,300 for their healthcare or pay the cost 305 00:14:12,300 --> 00:14:15,510 for basically training them with the idea that well, 306 00:14:15,510 --> 00:14:19,950 this person is bound to a degenerative condition 307 00:14:19,950 --> 00:14:24,210 and so we wouldn't want to invest in this person to come 308 00:14:24,210 --> 00:14:27,960 to work here if in the end they're going to end up sick. 309 00:14:27,960 --> 00:14:31,270 So certainly these protections are absolutely critical 310 00:14:33,005 --> 00:14:35,200 and this was a major step forward 311 00:14:36,653 --> 00:14:40,680 in the clinical setting for incorporating genetic testing 312 00:14:40,680 --> 00:14:43,480 and also from a research perspective 313 00:14:44,610 --> 00:14:48,660 that having these protections in place makes it much, 314 00:14:48,660 --> 00:14:51,240 makes folks much more comfortable with participating 315 00:14:51,240 --> 00:14:53,700 in genetic research studies 316 00:14:53,700 --> 00:14:55,380 because they're not as concerned 317 00:14:55,380 --> 00:14:57,750 that their information might be used 318 00:14:57,750 --> 00:15:00,270 to deny them health insurance coverage 319 00:15:00,270 --> 00:15:03,120 or as a means for termination of employment 320 00:15:03,120 --> 00:15:06,210 or not getting a job or not getting promoted. 321 00:15:06,210 --> 00:15:08,850 And when we talk about genetic information with respect 322 00:15:08,850 --> 00:15:10,320 to GINA, what does that mean? 323 00:15:10,320 --> 00:15:13,140 Genetic information includes family health history, 324 00:15:13,140 --> 00:15:16,200 the results of genetic tests, the use of genetic counseling 325 00:15:16,200 --> 00:15:17,340 and other genetic services 326 00:15:17,340 --> 00:15:19,417 and participation in genetic research. 327 00:15:19,417 --> 00:15:22,920 So this would also include the pedigree 328 00:15:22,920 --> 00:15:26,580 that you might be doing for a patient and their family. 329 00:15:26,580 --> 00:15:28,710 That information cannot be used 330 00:15:28,710 --> 00:15:32,040 by health insurance providers to, you know, 331 00:15:32,040 --> 00:15:35,520 in any way for a disease that's not manifest. 332 00:15:35,520 --> 00:15:37,290 And same thing for employment. 333 00:15:37,290 --> 00:15:38,460 Again, there are a few exceptions 334 00:15:38,460 --> 00:15:39,330 and we'll talk about those. 335 00:15:39,330 --> 00:15:41,940 So what does GINA not cover? 336 00:15:41,940 --> 00:15:43,560 We're gonna talk about it in a lot more detail 337 00:15:43,560 --> 00:15:46,770 in the separate slide deck that I'm including, 338 00:15:46,770 --> 00:15:50,010 but basically it does not, 339 00:15:50,010 --> 00:15:52,627 so health insurance providers can make 340 00:15:52,627 --> 00:15:54,090 underwriting decisions. 341 00:15:54,090 --> 00:15:56,430 These would be setting premiums, determining coverage, 342 00:15:56,430 --> 00:15:59,160 et cetera, using genetic information related 343 00:15:59,160 --> 00:16:01,530 to a current state of health. 344 00:16:01,530 --> 00:16:04,050 And this is what we would call a manifest disease. 345 00:16:04,050 --> 00:16:06,930 So if a patient is symptomatic 346 00:16:06,930 --> 00:16:08,790 or being treated for a genetic disease, 347 00:16:08,790 --> 00:16:11,760 this can be used by health insurance providers. 348 00:16:11,760 --> 00:16:14,050 Genetic diseases are not excluded 349 00:16:15,785 --> 00:16:18,780 from the health insurance providers being allowed 350 00:16:18,780 --> 00:16:22,350 to use those for preexisting conditions or to set premiums. 351 00:16:22,350 --> 00:16:24,510 But the must be symptomatic. 352 00:16:24,510 --> 00:16:28,002 So it cannot be a genetic test that would show, for example, 353 00:16:28,002 --> 00:16:30,870 a predisposition to a disease 354 00:16:30,870 --> 00:16:32,850 or that, again, going back to Huntington's disease, 355 00:16:32,850 --> 00:16:35,940 that a person will eventually become symptomatic. 356 00:16:35,940 --> 00:16:38,520 They cannot use that alone, it would need 357 00:16:38,520 --> 00:16:41,970 to be in combination with an exam 358 00:16:41,970 --> 00:16:44,160 and their clinicians healthcare team 359 00:16:44,160 --> 00:16:47,490 diagnosing them based upon symptoms based upon the 360 00:16:47,490 --> 00:16:51,300 manifestation of the disease, not just a genetic test. 361 00:16:51,300 --> 00:16:53,550 So if a patient has a genetic test which predicts 362 00:16:53,550 --> 00:16:56,130 or indicates increased likelihood of developing a disease 363 00:16:56,130 --> 00:16:58,410 but is not yet symptomatic of the disease 364 00:16:58,410 --> 00:16:59,640 this cannot be used. 365 00:16:59,640 --> 00:17:02,730 So an example would be BRCA1-2 testing in a patient 366 00:17:02,730 --> 00:17:07,410 who does not have cancer cannot be used, 367 00:17:07,410 --> 00:17:12,390 cannot be used to influence health insurance or employment, 368 00:17:12,390 --> 00:17:16,110 but a diagnosis of breast cancer can be used. 369 00:17:16,110 --> 00:17:18,120 So if you, if a patient goes 370 00:17:18,120 --> 00:17:20,790 and does not have cancer, has the BRCA1-2 test, 371 00:17:20,790 --> 00:17:21,623 gets the results, 372 00:17:21,623 --> 00:17:24,750 it is positive that information cannot be used 373 00:17:24,750 --> 00:17:27,090 to influence health insurance. 374 00:17:27,090 --> 00:17:29,460 However, if a patient goes in, 375 00:17:29,460 --> 00:17:31,020 is diagnosed with breast cancer, 376 00:17:31,020 --> 00:17:32,970 has a genetic test and finds out that he 377 00:17:32,970 --> 00:17:36,120 or she has BRCA1-2 mutations, 378 00:17:36,120 --> 00:17:40,077 then that can be used mostly solely because of 379 00:17:40,077 --> 00:17:44,223 the patient having a manifest disease of breast cancer. 380 00:17:46,140 --> 00:17:47,460 So what else does it not cover? 381 00:17:47,460 --> 00:17:49,170 It does not cover other types of insurance 382 00:17:49,170 --> 00:17:51,420 including life insurance, disability insurance, 383 00:17:51,420 --> 00:17:53,010 and long-term care insurance. 384 00:17:53,010 --> 00:17:56,940 There are certain states that have laws in place to protect 385 00:17:56,940 --> 00:17:59,520 these types of insurance from, 386 00:17:59,520 --> 00:18:01,512 to protect individuals from discrimination 387 00:18:01,512 --> 00:18:03,240 and these kinds of insurance. 388 00:18:03,240 --> 00:18:06,240 In addition to not covering other types of insurance, 389 00:18:06,240 --> 00:18:09,059 GINA does not cover certain groups including military, 390 00:18:09,059 --> 00:18:12,630 federal employees enrolled in the federal employment health 391 00:18:12,630 --> 00:18:15,480 benefit plan, veterans with healthcare 392 00:18:15,480 --> 00:18:17,430 through the VA and individuals covered 393 00:18:17,430 --> 00:18:18,930 by Indian Health Services 394 00:18:18,930 --> 00:18:21,180 as these individuals are all covered 395 00:18:21,180 --> 00:18:24,000 by similar anti-discrimination policies already in place. 396 00:18:24,000 --> 00:18:27,390 And many of them, including those for the military 397 00:18:27,390 --> 00:18:30,857 and federal employees are actually more protective in a way 398 00:18:30,857 --> 00:18:34,380 or I should say more broad in their coverage 399 00:18:34,380 --> 00:18:36,330 than is GINA. 400 00:18:36,330 --> 00:18:41,310 So they supersede the protection provided by GINA. 401 00:18:41,310 --> 00:18:44,010 There are some interesting other considerations in the 402 00:18:44,010 --> 00:18:46,110 military though, and that's actually, 403 00:18:46,110 --> 00:18:48,300 there's an interesting paragraph or so 404 00:18:48,300 --> 00:18:51,090 in the textbook that you'll read about military use 405 00:18:51,090 --> 00:18:55,500 of genetic information and how it's actually used 406 00:18:55,500 --> 00:18:59,280 and openly really shared 407 00:18:59,280 --> 00:19:01,800 that certain individuals who have, for example, 408 00:19:01,800 --> 00:19:03,360 sickle cell anemia 409 00:19:03,360 --> 00:19:07,230 or sickle cell trait, those who have G6PD, 410 00:19:07,230 --> 00:19:09,990 other kinds of genetic diseases 411 00:19:09,990 --> 00:19:14,070 that put an individual at higher risk under stress. 412 00:19:14,070 --> 00:19:17,460 Conditions, say physical stress conditions, they, 413 00:19:17,460 --> 00:19:21,720 because for sickle cell trait, if they are under conditions 414 00:19:21,720 --> 00:19:26,075 where there are dehydrated, under severe heat, 415 00:19:26,075 --> 00:19:29,380 they're much more likely 416 00:19:30,410 --> 00:19:33,270 to suffer severe health conditions as a result of that. 417 00:19:33,270 --> 00:19:37,350 So the military actually gives them 418 00:19:37,350 --> 00:19:40,170 like separate arm bans during certain kinds 419 00:19:40,170 --> 00:19:42,183 of practice or training I should say, 420 00:19:44,008 --> 00:19:47,220 that will let those who are running the training programs 421 00:19:47,220 --> 00:19:51,270 know so to, in a way, to try to protect them. 422 00:19:51,270 --> 00:19:54,870 However, there are certainly issues there. 423 00:19:54,870 --> 00:19:56,970 I mean I'm sure you can imagine some of the issues there 424 00:19:56,970 --> 00:20:01,260 with privacy, but military is its own system 425 00:20:01,260 --> 00:20:04,350 and GINA does not actually apply to that. 426 00:20:04,350 --> 00:20:06,690 The other group that actually is not covered from the 427 00:20:06,690 --> 00:20:09,780 employer side of the equation would be employers 428 00:20:09,780 --> 00:20:11,820 with fewer than 15 employees. 429 00:20:11,820 --> 00:20:16,440 So this is kind of an important exemption 430 00:20:16,440 --> 00:20:20,250 and one that I think is really relevant 431 00:20:20,250 --> 00:20:22,020 because if an employer, 432 00:20:22,020 --> 00:20:23,670 basically if it's a small business 433 00:20:23,670 --> 00:20:26,040 or an employer that only, you know, that only has a handful 434 00:20:26,040 --> 00:20:30,030 of employees, they are not held to the same standards of 435 00:20:30,030 --> 00:20:32,970 GINA as larger employers. 436 00:20:32,970 --> 00:20:36,090 And so this may be certainly a legitimate concern 437 00:20:36,090 --> 00:20:38,950 that patients may have if their employer is 438 00:20:40,710 --> 00:20:45,060 a smaller employer or if their employer even has, 439 00:20:45,060 --> 00:20:49,470 you know, a history of using this type 440 00:20:49,470 --> 00:20:51,839 of information in employment decisions. 441 00:20:51,839 --> 00:20:55,500 However, you know, there still may be some protection 442 00:20:55,500 --> 00:20:58,980 in place from other laws 443 00:20:58,980 --> 00:21:01,860 and from equal opportunity commission as well. 444 00:21:01,860 --> 00:21:05,846 And so, but GINA itself does not directly cover, 445 00:21:05,846 --> 00:21:08,190 does not directly include employers 446 00:21:08,190 --> 00:21:10,710 with fewer than 15 employees in their 447 00:21:10,710 --> 00:21:12,210 employment non-discrimination. 448 00:21:13,740 --> 00:21:14,730 So when we talk about GINA, 449 00:21:14,730 --> 00:21:16,710 you may also be thinking about HIPAA 450 00:21:16,710 --> 00:21:20,250 and we will look at this in the other slide deck as well, 451 00:21:20,250 --> 00:21:23,550 but GINA's primary concern is not with privacy 452 00:21:23,550 --> 00:21:26,760 but with the use of information for discrimination. 453 00:21:26,760 --> 00:21:29,670 So HIPAA as you're very aware is more about privacy 454 00:21:29,670 --> 00:21:31,050 and confidentiality 455 00:21:31,050 --> 00:21:33,060 of health records and health information. 456 00:21:33,060 --> 00:21:37,590 GINA is much more concerned about the use of 457 00:21:37,590 --> 00:21:39,660 that information for discrimination 458 00:21:39,660 --> 00:21:42,270 and some aspects of GINA attempt to limit the flow 459 00:21:42,270 --> 00:21:44,400 of information to insurers and employers. 460 00:21:44,400 --> 00:21:46,590 But these are mostly restrictions on what insurers 461 00:21:46,590 --> 00:21:49,320 and employers may ask for from individuals. 462 00:21:49,320 --> 00:21:51,240 For healthcare providers, HIPAA continues 463 00:21:51,240 --> 00:21:54,093 to govern the way health information may be disclosed. 464 00:21:55,560 --> 00:21:57,900 All right, so what else can we 465 00:21:57,900 --> 00:21:59,280 find out from genetic testing? 466 00:21:59,280 --> 00:22:02,400 It's not just the intended results, as I mentioned, 467 00:22:02,400 --> 00:22:05,100 it's also potentially these unintended results. 468 00:22:05,100 --> 00:22:07,680 So what are we talking about with unintended results? 469 00:22:07,680 --> 00:22:11,190 These are broadly called secondary findings 470 00:22:11,190 --> 00:22:13,560 and these can include any number of results 471 00:22:13,560 --> 00:22:14,907 that can come out of a genetic test. 472 00:22:14,907 --> 00:22:17,130 And it depends upon a number of things. 473 00:22:17,130 --> 00:22:20,730 So it depends upon if the genetic test is very specific, 474 00:22:20,730 --> 00:22:24,557 is it just looking for a particular snip or particular 475 00:22:24,557 --> 00:22:27,900 allele that is known to be associated with one disease 476 00:22:27,900 --> 00:22:29,670 and only one disease, 477 00:22:29,670 --> 00:22:33,990 or is it the in the direction that a lot of research 478 00:22:33,990 --> 00:22:38,340 is headed, which is more broadly sequencing larger regions 479 00:22:38,340 --> 00:22:40,980 and not just focusing on say, a single snip 480 00:22:40,980 --> 00:22:42,580 or a single allele. 481 00:22:42,580 --> 00:22:45,180 What else can that information tell us? 482 00:22:45,180 --> 00:22:46,533 Well, in addition to that, 483 00:22:47,580 --> 00:22:52,580 it can actually inform non-paternity, which is a, 484 00:22:53,010 --> 00:22:55,740 folks are very anxious about 485 00:22:55,740 --> 00:22:58,560 or nervous about that information coming out 486 00:22:58,560 --> 00:23:02,790 and the implications for the family units 487 00:23:02,790 --> 00:23:07,010 and the implications, the psychological impact for all 488 00:23:07,010 --> 00:23:09,750 of the individuals involved. 489 00:23:09,750 --> 00:23:14,610 It can basically be a really challenging situation 490 00:23:14,610 --> 00:23:16,350 for the families to deal with. 491 00:23:16,350 --> 00:23:18,330 In general it's recommended 492 00:23:18,330 --> 00:23:22,020 that non-paternity is not revealed, 493 00:23:22,020 --> 00:23:25,380 is not revealed even if the information comes back from a 494 00:23:25,380 --> 00:23:27,780 genetic test, say a clinical geneticist 495 00:23:27,780 --> 00:23:30,630 or genetic counselor is looking at the information, 496 00:23:30,630 --> 00:23:34,210 say they tested, they took a sample from 497 00:23:35,160 --> 00:23:37,620 the parents and then they took a sample from the child 498 00:23:37,620 --> 00:23:40,440 and they were trying to determine if the child 499 00:23:40,440 --> 00:23:42,589 has the same alleles as, 500 00:23:42,589 --> 00:23:45,270 or has which alleles from the parents. 501 00:23:45,270 --> 00:23:49,230 'Cause let's say mom was found to be a carrier 502 00:23:49,230 --> 00:23:54,210 for cystic fibrosis and the supposed father 503 00:23:54,210 --> 00:23:56,280 was also a carrier for cystic fibrosis 504 00:23:56,280 --> 00:23:59,100 and they want to know if the child is as well. 505 00:23:59,100 --> 00:24:02,250 They'll test these specific alleles for that 506 00:24:02,250 --> 00:24:03,840 each parent has both of their alleles 507 00:24:03,840 --> 00:24:06,150 and they'll test both alleles from the child. 508 00:24:06,150 --> 00:24:11,150 And if the child has an allele that is not found 509 00:24:11,370 --> 00:24:13,650 in either of the father's alleles, 510 00:24:13,650 --> 00:24:16,650 that is an indication of non-paternity. 511 00:24:16,650 --> 00:24:21,570 So that, it's generally determined that 512 00:24:21,570 --> 00:24:24,030 that information is not to be shared 513 00:24:24,030 --> 00:24:28,620 unless it is requested by everyone involved. 514 00:24:28,620 --> 00:24:32,220 But short of that which it is not shared 515 00:24:32,220 --> 00:24:36,630 unless that of course is the reason for the test. 516 00:24:36,630 --> 00:24:40,050 But other than that, it's not shared. 517 00:24:40,050 --> 00:24:44,700 That being said though, that information may be, 518 00:24:44,700 --> 00:24:48,300 may come out from the genetic test, so the genetic counselor 519 00:24:48,300 --> 00:24:51,120 or the clinical geneticist may be made aware of it 520 00:24:51,120 --> 00:24:56,120 and may ask the, typically would ask the mother if she 521 00:24:57,885 --> 00:25:01,233 would want that information shared or not. 522 00:25:02,160 --> 00:25:07,080 In addition, it can actually provide some, 523 00:25:07,080 --> 00:25:10,740 it can actually demonstrate that incest has occurred 524 00:25:10,740 --> 00:25:14,523 and that goes down another path that you know, 525 00:25:15,870 --> 00:25:20,280 that if you were working specifically in a genetics setting 526 00:25:20,280 --> 00:25:22,140 where you know you're a genetics counselor 527 00:25:22,140 --> 00:25:23,340 or a clinical geneticist, 528 00:25:23,340 --> 00:25:25,110 this may be a situation that you would face. 529 00:25:25,110 --> 00:25:26,700 I imagine it's not something you're gonna face on a 530 00:25:26,700 --> 00:25:30,600 regular basis simply because in order to determine 531 00:25:30,600 --> 00:25:31,950 that incest has occurred, 532 00:25:31,950 --> 00:25:36,090 you would need to have taken samples not just from the 533 00:25:36,090 --> 00:25:39,210 presumptive parents but also from the child. 534 00:25:39,210 --> 00:25:40,650 And there would need to be comparison 535 00:25:40,650 --> 00:25:42,000 between the two parents. 536 00:25:42,000 --> 00:25:45,660 And in order to come back to say that the parents were that, 537 00:25:45,660 --> 00:25:49,560 say for example the father of the child 538 00:25:49,560 --> 00:25:52,620 who is being tested also happens to be the father 539 00:25:52,620 --> 00:25:54,063 of the mother. 540 00:25:54,990 --> 00:25:58,080 That information potentially can come out, 541 00:25:58,080 --> 00:26:02,220 but it doesn't usually come out in a typical test, 542 00:26:02,220 --> 00:26:04,350 that would be something where they're doing 543 00:26:04,350 --> 00:26:07,390 a much broader kind of assessment 544 00:26:08,325 --> 00:26:10,800 of the genetics of the child. 545 00:26:10,800 --> 00:26:14,160 Say, for example, there's an illness that 546 00:26:14,160 --> 00:26:18,240 hasn't been identified or isn't clear what it could be. 547 00:26:18,240 --> 00:26:20,460 And so they're looking more broadly at many different 548 00:26:20,460 --> 00:26:23,160 markers in the child's genome. 549 00:26:23,160 --> 00:26:24,840 They want to compare that back to the parents, 550 00:26:24,840 --> 00:26:27,870 in that case that information may come out, 551 00:26:27,870 --> 00:26:31,530 certainly may come out and depending upon 552 00:26:31,530 --> 00:26:33,720 the nature of the situation, you know, 553 00:26:33,720 --> 00:26:35,730 there are different kinds of responses 554 00:26:35,730 --> 00:26:37,020 that could come along with that. 555 00:26:37,020 --> 00:26:40,710 But basically that it's unlikely 556 00:26:40,710 --> 00:26:43,560 that it would actually be a situation you would be faced 557 00:26:43,560 --> 00:26:46,464 with unless you were involved in basically 558 00:26:46,464 --> 00:26:49,470 the counseling after a test result came back. 559 00:26:49,470 --> 00:26:52,770 That would be, again, a non-standard test. 560 00:26:52,770 --> 00:26:55,560 Something that would be looking more broadly 561 00:26:55,560 --> 00:26:59,950 for potential genetic abnormalities that might be related 562 00:26:59,950 --> 00:27:04,230 to some disease phenotypes that hadn't been identified. 563 00:27:04,230 --> 00:27:05,790 So in any case, those are two 564 00:27:05,790 --> 00:27:08,940 that potentially information could come out from genetic 565 00:27:08,940 --> 00:27:11,520 testing, but it's unlikely that, 566 00:27:11,520 --> 00:27:13,410 unless you are a genetic counselor 567 00:27:13,410 --> 00:27:14,850 or a clinical geneticist, 568 00:27:14,850 --> 00:27:17,010 that you would be privy to that information. 569 00:27:17,010 --> 00:27:19,530 But certainly patients might feel, or patients 570 00:27:19,530 --> 00:27:21,496 or family members might feel a little nervous 571 00:27:21,496 --> 00:27:23,970 or very nervous, even anxious, 572 00:27:23,970 --> 00:27:27,543 or very concerned about this information coming out. 573 00:27:28,860 --> 00:27:31,080 So what other secondary findings are possible? 574 00:27:31,080 --> 00:27:33,690 Other disease susceptibility alleles 575 00:27:33,690 --> 00:27:35,100 found especially important in 576 00:27:35,100 --> 00:27:37,350 whole genome sequencing approaches. 577 00:27:37,350 --> 00:27:41,220 So while you may be going in looking for 578 00:27:41,220 --> 00:27:43,530 what's causing the, you know, 579 00:27:43,530 --> 00:27:45,330 what would be the genetic basis 580 00:27:45,330 --> 00:27:47,790 for this patient's particular disease, 581 00:27:47,790 --> 00:27:52,620 they may also discover that in their, 582 00:27:52,620 --> 00:27:54,330 that they also have susceptibility 583 00:27:54,330 --> 00:27:58,950 or another genetic disease that they were not looking for. 584 00:27:58,950 --> 00:28:01,200 This is once again goes back to more 585 00:28:01,200 --> 00:28:03,600 of those non-standard genetic tests 586 00:28:03,600 --> 00:28:05,130 where they're looking very broadly 587 00:28:05,130 --> 00:28:06,840 or sequencing large regions. 588 00:28:06,840 --> 00:28:09,150 Then there's the possibility that 589 00:28:09,150 --> 00:28:11,220 that information might come out. 590 00:28:11,220 --> 00:28:12,450 In a standard genetic test, 591 00:28:12,450 --> 00:28:13,650 that's not gonna be something you 592 00:28:13,650 --> 00:28:14,700 would likely be faced with. 593 00:28:14,700 --> 00:28:18,030 That would be more of a genetic research in a situation 594 00:28:18,030 --> 00:28:19,440 with genetic research going on 595 00:28:19,440 --> 00:28:22,170 that something like that might come out. 596 00:28:22,170 --> 00:28:24,330 Alleles of a single gene may be associated 597 00:28:24,330 --> 00:28:27,510 with multiple diseases, remember this word, pleiotropy? 598 00:28:27,510 --> 00:28:30,840 Well that's when a gene, alleles of a gene, 599 00:28:30,840 --> 00:28:32,850 can be associated with multiple diseases. 600 00:28:32,850 --> 00:28:36,300 So testing for one disease may reveal susceptibility 601 00:28:36,300 --> 00:28:38,400 to other diseases as well. 602 00:28:38,400 --> 00:28:40,267 And even if a person says, 603 00:28:40,267 --> 00:28:42,457 "Well, yeah, I want to know if I have the disease, 604 00:28:42,457 --> 00:28:46,233 "the allele, that makes me susceptible to, 605 00:28:47,698 --> 00:28:48,720 "you know, this one disease," 606 00:28:48,720 --> 00:28:51,480 they haven't necessarily given consent 607 00:28:51,480 --> 00:28:54,650 or that they have discussed the potential implications 608 00:28:54,650 --> 00:28:56,310 of the other disease that might be associated 609 00:28:56,310 --> 00:28:57,507 with that allele as well. 610 00:28:57,507 --> 00:29:00,703 And this is the case for some of those HLA gene, 611 00:29:00,703 --> 00:29:04,410 a patient who had an HLA test result 612 00:29:04,410 --> 00:29:08,340 and it had, and the patient had this particular haplotype 613 00:29:08,340 --> 00:29:10,050 or, you know, essentially allele 614 00:29:10,050 --> 00:29:11,550 that was the result of it. 615 00:29:11,550 --> 00:29:14,100 And that may indicate an increased likelihood 616 00:29:14,100 --> 00:29:15,510 of narcolepsy. 617 00:29:15,510 --> 00:29:17,310 Haplotype that came back from that 618 00:29:17,310 --> 00:29:20,850 is not only associated with increased likelihood 619 00:29:20,850 --> 00:29:23,430 of narcolepsy, but it also may be associated 620 00:29:23,430 --> 00:29:26,160 with an increased risk of multiple sclerosis, 621 00:29:26,160 --> 00:29:29,299 among other disorders as well. 622 00:29:29,299 --> 00:29:32,130 And so with HLA typing, it is, 623 00:29:32,130 --> 00:29:34,890 even though you may just be interested in narcolepsy, say, 624 00:29:34,890 --> 00:29:36,840 it also may inform a patient 625 00:29:36,840 --> 00:29:39,780 or inform the healthcare provider certainly about a 626 00:29:39,780 --> 00:29:42,780 potential increased likelihood of multiple sclerosis 627 00:29:42,780 --> 00:29:43,920 or other diseases. 628 00:29:43,920 --> 00:29:46,950 So that certainly should be discussed upfront 629 00:29:46,950 --> 00:29:50,400 with the patient before the the test is conducted 630 00:29:50,400 --> 00:29:55,400 to find out what he or she would would choose to learn about 631 00:29:56,970 --> 00:29:58,890 and also to just confirm that they would still want 632 00:29:58,890 --> 00:30:00,720 to undergo the genetic test knowing 633 00:30:00,720 --> 00:30:04,050 that that other information is really tied 634 00:30:04,050 --> 00:30:07,890 to that same test for, in this case for narcolepsy. 635 00:30:07,890 --> 00:30:09,930 So it gets a little complicated 636 00:30:09,930 --> 00:30:13,860 and it's not just as simple as I'm only going 637 00:30:13,860 --> 00:30:15,060 to test for this one disease 638 00:30:15,060 --> 00:30:16,380 because you very well may also be 639 00:30:16,380 --> 00:30:18,300 informing multiple other diseases. 640 00:30:18,300 --> 00:30:20,460 And it doesn't just stop there 641 00:30:20,460 --> 00:30:23,400 because we also think about future research studies which 642 00:30:23,400 --> 00:30:25,320 may change or expand the interpretation 643 00:30:25,320 --> 00:30:27,060 of today's genetic test results. 644 00:30:27,060 --> 00:30:30,540 But again, once you have a genetic test done at any stage in 645 00:30:30,540 --> 00:30:34,701 your life that test result will always remain, 646 00:30:34,701 --> 00:30:36,840 will always remain true to that person. 647 00:30:36,840 --> 00:30:38,610 So that person will always have that allele. 648 00:30:38,610 --> 00:30:43,610 So if later on genetic research shows that the allele 649 00:30:43,890 --> 00:30:47,310 that we've been testing for for cystic fibrosis 650 00:30:47,310 --> 00:30:49,530 is also somehow related 651 00:30:49,530 --> 00:30:52,920 to an increased likelihood of developing, 652 00:30:52,920 --> 00:30:55,080 you know, anxiety disorder 653 00:30:55,080 --> 00:30:57,090 or an eating disorder 654 00:30:57,090 --> 00:30:58,380 or something like, that's not the case, 655 00:30:58,380 --> 00:31:00,300 but I'm just making something up 656 00:31:00,300 --> 00:31:01,770 to use as an example, 657 00:31:01,770 --> 00:31:05,340 then that patient now knows something about his 658 00:31:05,340 --> 00:31:07,800 or her herself that they didn't actually, 659 00:31:07,800 --> 00:31:09,120 you know, didn't actually think about 660 00:31:09,120 --> 00:31:11,010 or consent to necessarily from the beginning. 661 00:31:11,010 --> 00:31:12,900 And that's not something we can control. 662 00:31:12,900 --> 00:31:15,210 That's not something we can control other than 663 00:31:15,210 --> 00:31:17,970 to potentially inform the patient that, you know, 664 00:31:17,970 --> 00:31:21,750 it's possible that at any, at any time in the future, 665 00:31:21,750 --> 00:31:24,959 future research may implicate those alleles 666 00:31:24,959 --> 00:31:29,283 in susceptibility to other diseases as well. 667 00:31:30,630 --> 00:31:32,640 So social implications, and there are many, 668 00:31:32,640 --> 00:31:34,920 but just a few to give a few examples. 669 00:31:34,920 --> 00:31:37,170 Genetic research can reveal differences in allele 670 00:31:37,170 --> 00:31:40,200 frequencies between different ethnicities or races. 671 00:31:40,200 --> 00:31:41,910 So remember allele frequency, 672 00:31:41,910 --> 00:31:46,910 that means how common a particular allele is 673 00:31:47,310 --> 00:31:48,660 in a specific population 674 00:31:48,660 --> 00:31:52,320 and we're talking about races or ethnicities. 675 00:31:52,320 --> 00:31:55,586 There's more marriages typically happen within those 676 00:31:55,586 --> 00:31:59,850 groups and so you maintain those alleles that are 677 00:31:59,850 --> 00:32:03,090 present in those particular groups in higher proportion. 678 00:32:03,090 --> 00:32:06,570 For example, the Ashkenazi Jewish population has a higher 679 00:32:06,570 --> 00:32:09,570 proportion of certain genetic disease alleles than 680 00:32:09,570 --> 00:32:10,950 the general population. 681 00:32:10,950 --> 00:32:12,480 And that's actually true with any population. 682 00:32:12,480 --> 00:32:15,000 You take any population and find a subset 683 00:32:15,000 --> 00:32:17,220 of genetic diseases that are gonna be more common 684 00:32:17,220 --> 00:32:18,600 in that population. 685 00:32:18,600 --> 00:32:21,400 Well it can certainly apply 686 00:32:22,650 --> 00:32:25,113 directly to health, but it can also apply to behavioral 687 00:32:25,113 --> 00:32:29,340 predispositions and certain groups may be subject 688 00:32:29,340 --> 00:32:30,780 to discrimination as a result. 689 00:32:30,780 --> 00:32:32,850 One example of that, it would be the Maori people 690 00:32:32,850 --> 00:32:35,490 of New Zealand were found to have a higher frequency 691 00:32:35,490 --> 00:32:38,707 of an allele of the MAOA gene once thought to be associated 692 00:32:38,707 --> 00:32:41,100 with antisocial or aggressive behavior. 693 00:32:41,100 --> 00:32:43,560 This has since been disproven, 694 00:32:43,560 --> 00:32:46,770 but this negatively impacted the perception of the Maori 695 00:32:46,770 --> 00:32:50,190 and increased discrimination against them. 696 00:32:50,190 --> 00:32:52,020 So not only this example, 697 00:32:52,020 --> 00:32:56,520 but certainly there are also examples of researchers 698 00:32:56,520 --> 00:33:01,380 who are looking into all alleles of certain genes 699 00:33:01,380 --> 00:33:06,380 that are associated with higher intelligence or higher IQ 700 00:33:06,930 --> 00:33:09,540 and then going and looking at frequencies 701 00:33:09,540 --> 00:33:13,230 of those alleles in different groups of people. 702 00:33:13,230 --> 00:33:15,300 So in different races for example. 703 00:33:15,300 --> 00:33:20,300 And identifying that, say there was one research study 704 00:33:20,610 --> 00:33:25,610 that looked at a couple of genes that were, 705 00:33:26,760 --> 00:33:29,400 one gene in particular called microcephalin 706 00:33:29,400 --> 00:33:32,610 that had an allele that was tentatively associated 707 00:33:32,610 --> 00:33:35,880 with higher intelligence, which was since disproven, 708 00:33:35,880 --> 00:33:38,160 I can't stress this enough, was since disproven 709 00:33:38,160 --> 00:33:41,520 to not have any association with intelligence. 710 00:33:41,520 --> 00:33:44,040 It was actually associated with slightly larger head size 711 00:33:44,040 --> 00:33:45,393 but not with intelligence. 712 00:33:46,410 --> 00:33:51,410 That allele though was found to be in higher frequency, 713 00:33:51,510 --> 00:33:56,420 so more common in Caucasian populations of those of 714 00:33:57,450 --> 00:33:59,700 Western European descent 715 00:33:59,700 --> 00:34:02,790 and was found to be in lowest frequency in those 716 00:34:02,790 --> 00:34:04,170 of African descent. 717 00:34:04,170 --> 00:34:06,540 And you can imagine, you can imagine 718 00:34:06,540 --> 00:34:08,970 how this information was misused 719 00:34:08,970 --> 00:34:12,420 and even perverted and still is today. 720 00:34:12,420 --> 00:34:13,920 You can still look online 721 00:34:13,920 --> 00:34:16,620 and you'll still find some of this hanging around 722 00:34:16,620 --> 00:34:19,380 even though it's very much been disproven 723 00:34:19,380 --> 00:34:23,280 scientifically that it takes very little to give people 724 00:34:23,280 --> 00:34:25,770 who want to have a bias and want to discriminate, 725 00:34:25,770 --> 00:34:27,660 it takes very little to feed into that 726 00:34:27,660 --> 00:34:30,480 and that was one that certainly did. 727 00:34:30,480 --> 00:34:35,190 So there are broad reaching implications outside of science, 728 00:34:35,190 --> 00:34:39,150 outside of healthcare that that can apply to large groups 729 00:34:39,150 --> 00:34:42,123 of people and can feed into discrimination. 730 00:34:43,140 --> 00:34:45,210 Also, those who test positive for genetic disease 731 00:34:45,210 --> 00:34:48,060 or predisposition face feelings of social isolation, 732 00:34:48,060 --> 00:34:50,110 depression, grief, anger, guilt, 733 00:34:50,110 --> 00:34:52,830 among many other possible psychological impacts 734 00:34:52,830 --> 00:34:57,830 including relief and reduction in anxiety 735 00:34:58,200 --> 00:34:59,400 depending upon the person. 736 00:34:59,400 --> 00:35:00,526 Because again, you know, 737 00:35:00,526 --> 00:35:03,377 if they were worried about whether they have the disease 738 00:35:03,377 --> 00:35:05,280 allele or not, and they get tested, they find that 739 00:35:05,280 --> 00:35:06,870 they are, well at least they don't have 740 00:35:06,870 --> 00:35:08,460 to worry about whether they are or not anymore. 741 00:35:08,460 --> 00:35:10,320 They know and they can take some steps. 742 00:35:10,320 --> 00:35:11,700 That's the way some people react. 743 00:35:11,700 --> 00:35:14,400 Other people will react in completely different ways. 744 00:35:14,400 --> 00:35:15,960 As I'm sure you've all experienced 745 00:35:15,960 --> 00:35:20,040 with giving health information, test results, 746 00:35:20,040 --> 00:35:21,630 to different folks. 747 00:35:21,630 --> 00:35:24,003 You get a a wide range of reactions. 748 00:35:25,680 --> 00:35:27,600 So what about the cost of genetic tests? 749 00:35:27,600 --> 00:35:29,430 Genetic tests can be very expensive, 750 00:35:29,430 --> 00:35:31,020 as I'm sure you probably already know, 751 00:35:31,020 --> 00:35:32,340 typically costing from hundreds 752 00:35:32,340 --> 00:35:34,080 to even thousands of dollars. 753 00:35:34,080 --> 00:35:36,900 GINA does not compel health insurance providers 754 00:35:36,900 --> 00:35:39,840 to cover the cost of genetic tests in in any way. 755 00:35:39,840 --> 00:35:42,093 So it's not as though it's actually making it easier 756 00:35:42,093 --> 00:35:45,090 for patients to get genetic tests from 757 00:35:45,090 --> 00:35:46,860 a financial perspective. 758 00:35:46,860 --> 00:35:49,830 It simply just protects them from the information 759 00:35:49,830 --> 00:35:52,440 that results from those genetic tests from being used 760 00:35:52,440 --> 00:35:53,921 against them in any way. 761 00:35:53,921 --> 00:35:58,080 In just this past June, the US Supreme Court ruled 762 00:35:58,080 --> 00:36:00,720 that DNA in its natural form cannot be patented. 763 00:36:00,720 --> 00:36:02,580 So why do we care about patenting? 764 00:36:02,580 --> 00:36:06,600 Well this was important, this was actually a milestone 765 00:36:06,600 --> 00:36:10,290 because that basically is going to open the door 766 00:36:10,290 --> 00:36:13,980 to competition in genetic testing 767 00:36:13,980 --> 00:36:15,780 and there increased, potentially increased 768 00:36:15,780 --> 00:36:16,613 their availability. 769 00:36:16,613 --> 00:36:19,500 So as you may be familiar, Myriad is the name of the company 770 00:36:19,500 --> 00:36:24,500 that had a patent on the BRCA1-2 mutations 771 00:36:25,140 --> 00:36:28,380 that were associated with increased likelihood 772 00:36:28,380 --> 00:36:29,790 of breast cancer. 773 00:36:29,790 --> 00:36:31,920 So now they can no longer hold those patents, 774 00:36:31,920 --> 00:36:33,690 those patents are no longer valid. 775 00:36:33,690 --> 00:36:37,890 As a result, other genetic testing companies can now start 776 00:36:37,890 --> 00:36:42,139 to test for those very same mutations or alleles 777 00:36:42,139 --> 00:36:47,139 and do that at a much lower cost than Myriads 778 00:36:47,550 --> 00:36:50,500 original costs in thousands of dollars even 779 00:36:51,450 --> 00:36:54,220 for those BRCA1-2 tests that now 780 00:36:55,770 --> 00:36:58,140 there are companies that will have the opportunity 781 00:36:58,140 --> 00:37:00,540 to come in and compete 782 00:37:00,540 --> 00:37:05,430 and that should increase the availability 783 00:37:05,430 --> 00:37:07,980 and also reduce the prices for 784 00:37:07,980 --> 00:37:09,933 genetic testing moving into the future. 785 00:37:11,130 --> 00:37:12,720 Alright, so speaking of genetic testing, 786 00:37:12,720 --> 00:37:14,790 one last point I wanted to discuss is the 787 00:37:14,790 --> 00:37:16,762 direct-to-consumer genetic testing. 788 00:37:16,762 --> 00:37:20,583 And you've, you may have heard of this. 789 00:37:21,429 --> 00:37:22,980 You may have even had some patients coming in 790 00:37:22,980 --> 00:37:25,920 and, you know, handing you printouts of something 791 00:37:25,920 --> 00:37:28,140 that they got from, you know, a mail-in kit 792 00:37:28,140 --> 00:37:32,067 to find out if you have the gene for this or that. 793 00:37:32,067 --> 00:37:35,040 And as you remember, we all have the same genes. 794 00:37:35,040 --> 00:37:36,660 It's not the gene for this or that, 795 00:37:36,660 --> 00:37:38,220 it's the allele for this or that, 796 00:37:38,220 --> 00:37:40,362 but still that's probably what they say. 797 00:37:40,362 --> 00:37:43,418 And I just wanted to take a moment to talk about 798 00:37:43,418 --> 00:37:46,170 direct-to-consumer testing and I included 799 00:37:46,170 --> 00:37:50,610 a publication on direct-to-consumer testing 800 00:37:50,610 --> 00:37:53,910 and there's some position statement 801 00:37:53,910 --> 00:37:56,160 as well from the International Society of Nurses 802 00:37:56,160 --> 00:37:58,950 and Genetics in the required reading folder. 803 00:37:58,950 --> 00:38:01,500 And they provide some guidance there as well. 804 00:38:01,500 --> 00:38:05,850 But companies offer genetic testing directly to the consumer 805 00:38:05,850 --> 00:38:09,420 on specific traits, ancestry, health related information 806 00:38:09,420 --> 00:38:12,390 and other novelty outcomes including whether 807 00:38:12,390 --> 00:38:15,153 or not you would be able to curl your tongue or.