怎么样看懂一份基因检测报告：报告诠释平常问题答疑
<p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"># <span style="color: black;">怎么样</span>看懂一份基因检测报告 #</p>
<p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">随着靶向治疗和免疫治疗的发展，基因检测<span style="color: black;">已然</span><span style="color: black;">作为</span>众多肿瘤治疗必不可少的检测项目。尤其<span style="color: black;">针对</span><span style="color: black;">期盼</span>进行靶向<span style="color: black;">药品</span><span style="color: black;">或</span>免疫<span style="color: black;">药品</span>治疗的<span style="color: black;">病人</span>，绝大<span style="color: black;">都数</span><span style="color: black;">必须</span>事先进行基因检测，从而<span style="color: black;">认识</span>自己<span style="color: black;">是不是</span>能从靶向<span style="color: black;">药品</span><span style="color: black;">或</span>免疫<span style="color: black;">药品</span>中获益。而当<span style="color: black;">病人</span>拿到检测报告后，<span style="color: black;">因为</span>对<span style="color: black;">疾患</span>和检测的专业知识<span style="color: black;">认识</span>不足，常常会遇到<span style="color: black;">非常多</span>问题，亟需专业人士给出权威的解答。</p>
<p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">今天在<span style="color: black;">咱们</span>“六周年企划”的最后一期，由仁东医学遗传咨询部为<span style="color: black;">大众</span>进行基因检测报告中的<span style="color: black;">平常</span>问题答疑，<span style="color: black;">帮忙</span>您更加<span style="color: black;">认识</span>自己的基因数据。</p>
<p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">1、某个基因上<span style="color: black;">那些</span>突变是临床<span style="color: black;">道理</span>未明的，<span style="color: black;">那些</span>是有<span style="color: black;">道理</span>的、<span style="color: black;">指点</span>用药的，怎么能看出来？</p>
<p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">为了方便客户能够快速<span style="color: black;">把握</span>报告信息，报告在呈现时对于有临床<span style="color: black;">道理</span>和<span style="color: black;">道理</span>未明的突变，会予以<span style="color: black;">知道</span>标识，<span style="color: black;">针对</span>有<span style="color: black;">获准</span><span style="color: black;">药品</span>的突变，会给出相应<span style="color: black;">药品</span>，并注明<span style="color: black;">敏锐</span>性证据等级(见表1)。有临床<span style="color: black;">道理</span>和<span style="color: black;">道理</span>未明的划分，<span style="color: black;">重点</span>依据2017年AMP/ASCO/ CAP联合制定的体细胞突变变异位点<span style="color: black;">诠释</span>指南(见图1)。在<span style="color: black;">实质</span><span style="color: black;">诠释</span>过程中，会综合<span style="color: black;">关联</span>指南，Clinvar、OncoKB、COSMIC等数据库以及<span style="color: black;">关联</span>文献<span style="color: black;">报告</span>中关于变异位点的描述，<span style="color: black;">根据</span>证据级别进行划分，以判定其临床<span style="color: black;">道理</span>。</p>
<div style="color: black; text-align: left; margin-bottom: 10px;"><img src="https://pic3.zhimg.com/80/v2-7d9e7f70fd070a12fe58151f71077cfa_720w.webp" style="width: 50%; margin-bottom: 20px;"></div>
<p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">2、遗传方式为隐性遗传，合子类型为杂合的单核苷酸突变位点，致病性<span style="color: black;">归类</span><span style="color: black;">为何</span>是致病/疑似致病？</p>
<p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><span style="color: black;">针对</span>遗传性变异，在<span style="color: black;">诠释</span>时是严格<span style="color: black;">根据</span>ACMG遗传性变异<span style="color: black;">归类</span>指南进行<span style="color: black;">归类</span>(<span style="color: black;">详细</span>可回看“<a style="color: black;"><span style="color: black;">怎么样</span>看懂一份基因检测报告：给</a>胚系突变分个类”)，所<span style="color: black;">归类</span>的对象是“变异”，对应<span style="color: black;">疾患</span>的遗传模式是决定该<span style="color: black;">疾患</span>的表型<span style="color: black;">是不是</span>会表现出来。检测到常染色体隐性遗传的杂合致病/疑似致病变异，说明被检测者是变异的携带者，<span style="color: black;">通常</span>不会表现出<span style="color: black;">关联</span><span style="color: black;">疾患</span>的症状，<span style="color: black;">然则</span>并不<span style="color: black;">暗示</span>变异是不致病的，<span style="color: black;">通常</span>纯合或复合杂合变异时<span style="color: black;">病人</span>才可表现出相应<span style="color: black;">疾患</span>的症状。</p>
<p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">3、<span style="color: black;">按照</span>某个基因突变<span style="color: black;">病人</span>后续该<span style="color: black;">怎样</span>用药？</p>
<p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><span style="color: black;">针对</span>有用药提示的突变，报告中会给出相应的<span style="color: black;">药品</span><span style="color: black;">敏锐</span>证据等级，等级划分<span style="color: black;">详细</span>参考表1。</p>
<div style="color: black; text-align: left; margin-bottom: 10px;"><img src="https://pic2.zhimg.com/80/v2-0ae39b012accd72650ae295c33839981_720w.webp" style="width: 50%; margin-bottom: 20px;"></div>
<p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">在用药时优先<span style="color: black;">思虑</span>证据等级高的<span style="color: black;">药品</span>(A级和B级)，在<span style="color: black;">无</span>A级和B级<span style="color: black;">药品</span>可用的<span style="color: black;">状况</span>下，需<span style="color: black;">大夫</span>综合<span style="color: black;">评定</span><span style="color: black;">病人</span>的<span style="color: black;">情况</span>，和<span style="color: black;">病人</span>充分沟通获益程度可能有限，经<span style="color: black;">病人</span>知情同意后决定<span style="color: black;">是不是</span><span style="color: black;">运用</span>C级和D级<span style="color: black;">药品</span>。</p>
<p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">4、前列腺癌中，HRR<span style="color: black;">道理</span>未明突变<span style="color: black;">是不是</span><span style="color: black;">亦</span><span style="color: black;">能够</span><span style="color: black;">指点</span>用PARP<span style="color: black;">控制</span>剂？</p>
<p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">临床<span style="color: black;">道理</span>未明的突变，说明<span style="color: black;">日前</span><span style="color: black;">针对</span>该位点<span style="color: black;">科研</span>较为缺乏，文献<span style="color: black;">报告</span>很少或<span style="color: black;">无</span>，<span style="color: black;">亦</span><span style="color: black;">无</span>相应的功能实验来验证此位点的功能影响，临床<span style="color: black;">道理</span>尚不<span style="color: black;">知道</span>，<span style="color: black;">因此呢</span>不<span style="color: black;">举荐</span><span style="color: black;">按照</span>临床<span style="color: black;">道理</span>未明的突变来<span style="color: black;">指点</span>用药。<span style="color: black;">通常</span><span style="color: black;">仅有</span>I类和II类变异(参考图1)才<span style="color: black;">举荐</span><span style="color: black;">指点</span>用药。<span style="color: black;">然则</span><span style="color: black;">针对</span><span style="color: black;">道理</span>未明位点，随着<span style="color: black;">科研</span>的<span style="color: black;">发展</span>，<span style="color: black;">倘若</span>后期完善了功能实</p>
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