1 00:00:00,000 --> 00:00:05,840 Unit 3. Making Medical Decisions. Page 66. Reading 1. 2 00:00:07,240 --> 00:00:14,000 Genetic Testing and Disease. Would You Want to Know? By Janice Lloyd. USA Today. 3 00:00:15,660 --> 00:00:21,120 Kristen Powers finishes packing her lunch and opens the kitchen door to leave for high school 4 00:00:21,120 --> 00:00:28,680 with her brother Nate in tow. I drive but always let him pick the music, she says smiling. He 5 00:00:28,680 --> 00:00:34,960 gives her a gentle nudge and they set off to the car. Nothing like having a kid brother behind you, 6 00:00:35,260 --> 00:00:42,240 especially when you are embarking on a courageous journey. Kristen, 18, is having blood work done 7 00:00:42,240 --> 00:00:48,480 May 18th to find out whether she inherited the defective gene for Huntington's disease, 8 00:00:48,480 --> 00:00:55,700 a fatal neurodegenerative disorder that can debilitate victims as early as their mid-30s. 9 00:00:56,480 --> 00:00:58,480 The siblings have a 50-50 chance. 10 00:00:58,680 --> 00:01:04,980 of developing the rare disease, which claimed their mother's life last year at age 45. 11 00:01:06,240 --> 00:01:14,040 Nate, 16, doesn't know whether he'll follow his sister's lead. Only people 18 or older can be 12 00:01:14,040 --> 00:01:20,580 tested, unless they're exhibiting symptoms, because a positive result can be shattering news. 13 00:01:20,760 --> 00:01:27,280 There's also no cure. Huntington's is devastating on so many levels. 14 00:01:28,020 --> 00:01:28,660 People lose their lives. 15 00:01:28,680 --> 00:01:35,040 They lose coordination, developing wild jerky movements. They suffer behavioral changes, 16 00:01:35,500 --> 00:01:41,740 often becoming depressed and psychotic, and in the end, they develop dementia and require 17 00:01:41,740 --> 00:01:48,360 total care. One of their last images of their mother was in a wheelchair in a nursing home. 18 00:01:49,700 --> 00:01:54,060 Nate has been amazingly supportive of my wanting to get tested, 19 00:01:54,060 --> 00:01:57,940 Kristen says. He is interested in the whole process, 20 00:01:57,940 --> 00:02:01,600 but he's been hesitant over the years to commit to testing, 21 00:02:02,140 --> 00:02:05,840 while I've known since I was 15 that I wanted to do this. 22 00:02:07,020 --> 00:02:13,420 Know Thyself has taken on a scientific meaning for a growing number of people who, like Kristen, 23 00:02:13,860 --> 00:02:20,880 want a crystal ball to look into their DNA. Ever since the Human Genome Project identified 24 00:02:20,880 --> 00:02:27,800 the 20,000 to 25,000 genes in 2003, researchers have continued to look at the DNA of human genes. 25 00:02:27,800 --> 00:02:36,360 They've been able to identify the ones that play roles in diseases, from Alzheimer's to type 2 diabetes to certain types of cancer. 26 00:02:37,320 --> 00:02:42,380 Though lifestyle and environment are big pieces of the puzzle, consider this. 27 00:02:43,160 --> 00:02:51,980 Genetic tests could become part of standard care for everyone and revolutionize the way medicine is practiced, proponents say. 28 00:02:52,960 --> 00:02:56,340 Gone would be the days of waiting to develop a disease. 29 00:02:56,340 --> 00:03:03,940 People would know about diseases they are at risk for, and could change their living habits or consider treatments. 30 00:03:04,780 --> 00:03:11,700 Opponents warn about the potential for invasion of privacy, threatening employment and insurance, 31 00:03:12,240 --> 00:03:19,640 and the possibility that people equipped with the knowledge of their genetic makeup might make risky and unhealthy decisions. 32 00:03:20,520 --> 00:03:26,320 Kristen has had counseling at the University of North Carolina to prepare her for dealing with the disease. 33 00:03:26,340 --> 00:03:32,540 She's now dealing with her testing news, and she copes with stress by walking with her rescue dog, Jake. 34 00:03:33,380 --> 00:03:36,040 Walking is critical for me, she says. 35 00:03:36,560 --> 00:03:42,700 She will return to the campus at the end of May with her father, Ed Powers, to get the results. 36 00:03:43,540 --> 00:03:48,420 She's always wanted to take matters into her own hands, her father says. 37 00:03:48,880 --> 00:03:52,520 She's constantly asking what we can do to make things better. 38 00:03:52,860 --> 00:03:56,320 I am her biggest backer and want to be there for her. 39 00:03:56,340 --> 00:03:58,800 I want to be there for her every step of the way during this. 40 00:04:00,380 --> 00:04:02,200 Leaning on Social Media 41 00:04:02,200 --> 00:04:13,540 Kristen leans on her kitchen table and explains in a quiet, clear voice that she is ready to handle the news and has no plans to keep it secret. 42 00:04:14,500 --> 00:04:23,000 I started out trying to find answers on the Internet about Huntington's disease, she says, but I quickly became very disappointed. 43 00:04:23,680 --> 00:04:26,100 There's not a good video or an advertisement. 44 00:04:26,340 --> 00:04:30,500 There's not a good certificate for it, like Michael J. Fox's for Parkinson's disease. 45 00:04:31,700 --> 00:04:47,760 She has raised $17,580 on the website Indiegogo.com and hired a video crew to make a documentary about the emotional and medical aspects of testing on her and her family. 46 00:04:48,940 --> 00:04:51,160 Social media can be a real unifier. 47 00:04:51,820 --> 00:04:55,160 There's not much out there yet for young people on Huntington's. 48 00:04:55,160 --> 00:04:56,160 I want to change. 49 00:04:56,340 --> 00:04:56,860 I want to change that. 50 00:04:57,860 --> 00:05:05,580 Her mother, Nicola Powers, was diagnosed in 2003 after struggling with symptoms for several years. 51 00:05:06,500 --> 00:05:11,880 I remember watching her stumble and walk like a drunk person at times, Kristen says. 52 00:05:12,520 --> 00:05:14,900 That was before we knew what was wrong with her. 53 00:05:15,440 --> 00:05:16,680 She was really struggling. 54 00:05:17,220 --> 00:05:18,520 It was very scary. 55 00:05:19,880 --> 00:05:23,240 Nicola Powers didn't know the disease ran in her family. 56 00:05:23,240 --> 00:05:26,220 She grew apart from her biological father. 57 00:05:26,340 --> 00:05:35,120 After her parents divorced, once she looked into his medical history because of her symptoms, she discovered he had Huntington's. 58 00:05:36,320 --> 00:05:39,340 Kristen doesn't want the gene to be passed on again. 59 00:05:39,940 --> 00:05:43,080 She says she won't have children if she tests positive. 60 00:05:44,080 --> 00:05:48,640 I can be candid with potential partners and be responsible, she says. 61 00:05:49,520 --> 00:05:55,500 Genetic counselors warn about the emotional impact of testing on the person and family. 62 00:05:56,340 --> 00:06:04,700 Some people like to plan everything out, says Brenda Finucane, president of the National Society of Genetic Counselors. 63 00:06:05,360 --> 00:06:11,080 They think the information is empowering, while some people want to see how life plays out. 64 00:06:12,160 --> 00:06:22,400 Robert Green has found that most people will not seek out risk information about late-onset Alzheimer's disease if they're not psychologically prepared to handle it. 65 00:06:22,400 --> 00:06:26,320 But it turns out many people handle this kind of information. 66 00:06:26,320 --> 00:06:34,420 They have information quite well, says Green, associate director for research and genetics at Brigham and Women's Hospital in Boston. 67 00:06:35,540 --> 00:06:39,400 Some changed their wills, and some made lifestyle changes. 68 00:06:39,960 --> 00:06:43,120 Taking these tests is all about actionability. 69 00:06:44,340 --> 00:06:45,900 Timing can be tricky, though. 70 00:06:46,560 --> 00:06:54,380 Kristen's father and stepmother, Betsy Banks Saul, suggested she hold off until she has a support system at college. 71 00:06:54,700 --> 00:06:56,300 She's a very intelligent person. 72 00:06:56,300 --> 00:07:03,780 She's a very intelligent, strong young woman, and we trust her, but we wish we could be nearby to support her, Betsy says. 73 00:07:04,700 --> 00:07:13,080 After high school graduation in June, she will attend Stanford in California, far from her farm, family, and friends. 74 00:07:13,960 --> 00:07:18,440 Kristen listened to her parents' concerns and considered putting off testing. 75 00:07:19,020 --> 00:07:23,580 But I am a type A person who has always craved getting information. 76 00:07:24,000 --> 00:07:24,940 I want to know. 77 00:07:26,300 --> 00:07:28,640 Not all tests are equal. 78 00:07:29,880 --> 00:07:37,900 Her test will look for the single gene that causes Huntington's, but most diseases have a more complicated genetic profile. 79 00:07:38,840 --> 00:07:47,640 A growing number of tests look at multiple genes that might increase or decrease a person's risk for developing thousands of diseases. 80 00:07:48,560 --> 00:07:56,020 Companies market the tests for as little as $100 on the Internet and don't require a physician's signature. 81 00:07:56,300 --> 00:08:05,100 But those kinds of results are not always reliable, says artist Dee Hoven, former chair of the American Medical Association. 82 00:08:06,440 --> 00:08:16,520 In the absence of a medical professional, a patient might have difficulty interpreting the test and make decisions that are not healthy decisions, Hoven says. 83 00:08:16,520 --> 00:08:22,520 For instance, someone who tests negative for BRCA1 and BRCA2, 84 00:08:22,520 --> 00:08:29,020 genes that put people at a higher risk for developing certain breast and ovarian cancers, 85 00:08:29,500 --> 00:08:32,220 might not know there are other risk factors. 86 00:08:33,000 --> 00:08:36,600 Unless the patient has a physician guiding her, Hoven says, 87 00:08:36,860 --> 00:08:41,140 she might think she's home free and skip routine screening tests. 88 00:08:42,420 --> 00:08:46,340 David August, author of the new book The End of Illness, 89 00:08:46,340 --> 00:08:50,760 says that's why the company he co-founded, Nevagenix, 90 00:08:50,760 --> 00:08:55,880 requires customers to get a signature from their doctors before being tested. 91 00:08:56,780 --> 00:09:02,980 Nevagenix also offers genetic counseling as part of the $300 to $400 fee. 92 00:09:04,000 --> 00:09:10,020 Genetics are a small piece of the puzzle, but they're a very important piece, says August, 93 00:09:10,640 --> 00:09:16,020 head of the Center for Applied Molecular Medicine at the University of Southern California. 94 00:09:16,740 --> 00:09:20,740 A cancer specialist, August discovered he has an 95 00:09:20,740 --> 00:09:23,840 above-average risk for cardiovascular disease 96 00:09:23,840 --> 00:09:27,700 and a slightly lower-than-average risk for colon cancer. 97 00:09:28,300 --> 00:09:32,340 His doctor put him on a statin to help prevent heart disease, 98 00:09:32,680 --> 00:09:33,480 and he says, 99 00:09:33,940 --> 00:09:37,440 my kids took it upon themselves to keep me away from french fries. 100 00:09:38,100 --> 00:09:41,320 He also had a colonoscopy at age 43, 101 00:09:41,920 --> 00:09:44,340 earlier than medical standards call for, 102 00:09:44,340 --> 00:09:46,540 and had a polyp removed. 103 00:09:47,760 --> 00:09:49,820 Could my polyp have turned into cancer? 104 00:09:50,300 --> 00:09:50,720 Who knows? 105 00:09:50,980 --> 00:09:53,280 But why should I wait for that to happen? 106 00:09:54,200 --> 00:09:56,720 Unless our country can focus on prevention, 107 00:09:57,280 --> 00:09:58,940 which testing is all about, 108 00:09:59,320 --> 00:10:02,740 our health care costs will be completely out of control. 109 00:10:03,440 --> 00:10:08,160 A study of 1,200 patients that was presented in March 110 00:10:08,160 --> 00:10:11,100 at an American College of Cardiology meeting 111 00:10:11,100 --> 00:10:14,720 found that those who were told they had a gene linked to heart disease 112 00:10:15,280 --> 00:10:19,880 improved their adherence to statin therapy by 13%, 113 00:10:19,880 --> 00:10:20,720 compared with those who were told they had a gene linked to heart disease. 114 00:10:20,740 --> 00:10:26,580 I could see how testing could become embedded 115 00:10:26,580 --> 00:10:29,320 in how we treat our patients, Hovind says. 116 00:10:29,940 --> 00:10:32,900 It's always better to prevent disease than to treat it, 117 00:10:33,260 --> 00:10:36,180 and quality of life is so much better for people. 118 00:10:38,300 --> 00:10:40,320 How accessibility could change. 119 00:10:41,400 --> 00:10:44,900 Since the human genome was unraveled a dozen years ago, 120 00:10:45,260 --> 00:10:48,980 genetic testing has been cost-prohibitive for the average person. 121 00:10:49,180 --> 00:10:51,860 The promise was that this breakthrough, 122 00:10:52,020 --> 00:10:55,440 would lead to a better understanding of myriad diseases 123 00:10:55,440 --> 00:10:59,020 and, ultimately, individualized treatments. 124 00:10:59,840 --> 00:11:02,700 Whole genome testing studies the interaction 125 00:11:02,700 --> 00:11:06,840 of our 20,000 to 25,000 genes with one another 126 00:11:06,840 --> 00:11:08,840 and with a person's environment. 127 00:11:09,640 --> 00:11:12,200 The $10,000 price tag, though, 128 00:11:12,200 --> 00:11:16,260 is expected to drop to $1,000 within the decade. 129 00:11:17,220 --> 00:11:19,060 When the tests become mainstream, 130 00:11:19,660 --> 00:11:21,240 doctors could face a dilemma. 131 00:11:22,020 --> 00:11:26,220 A study in March reports that 10 of 16 specialists, 132 00:11:26,740 --> 00:11:27,860 62%, 133 00:11:27,860 --> 00:11:31,880 favored telling a patient he carried the gene for Huntington's 134 00:11:31,880 --> 00:11:35,780 if the finding was incidental to why the test was ordered. 135 00:11:36,840 --> 00:11:39,100 The study noted that the specialists 136 00:11:39,100 --> 00:11:41,580 unanimously agreed on disclosing 137 00:11:41,580 --> 00:11:46,220 21 of 99 commonly ordered genetic conditions for adults 138 00:11:46,220 --> 00:11:48,700 and multiple expert panels 139 00:11:48,700 --> 00:11:52,000 might be needed to agree on what to tell patients. 140 00:11:52,660 --> 00:11:54,940 This is one of the toughest issues 141 00:11:54,940 --> 00:11:57,520 facing the rollout of clinical sequencing, 142 00:11:58,060 --> 00:12:00,560 whole genome sequencing, Green says. 143 00:12:01,100 --> 00:12:02,960 He adds that after the study, 144 00:12:03,280 --> 00:12:05,720 he co-chaired a forum March 28th 145 00:12:05,720 --> 00:12:08,420 of the American College of Medical Genetics 146 00:12:08,420 --> 00:12:10,760 to discuss how to form a consensus. 147 00:12:11,880 --> 00:12:13,600 That's a non-issue for Kristen. 148 00:12:14,140 --> 00:12:15,960 She knows she will get an answer. 149 00:12:16,700 --> 00:12:18,300 One of her hardest decisions 150 00:12:18,300 --> 00:12:20,840 has been picking who will be in the room 151 00:12:20,840 --> 00:12:21,800 when she gets her results. 152 00:12:22,020 --> 00:12:25,600 She knows she wants the videographers taping. 153 00:12:26,240 --> 00:12:29,040 At first, she didn't want her father to be there, 154 00:12:29,480 --> 00:12:32,420 but she relented when he asked her to reconsider. 155 00:12:33,500 --> 00:12:36,340 I know I can take the news, she says. 156 00:12:36,940 --> 00:12:38,140 Knowledge is power. 157 00:12:38,740 --> 00:12:41,320 But I didn't think I could get a positive result 158 00:12:41,320 --> 00:12:43,760 and then watch my father cry. 159 00:12:44,360 --> 00:12:46,340 I've never seen him cry before.