Genetic Testing Is Messier in Practice than in Theory: Lessons from Neonatology.
Genetic Testing Is Messier in Practice than in Theory: Lessons from Neonatology.
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DOI：
10.1080/15265161.2021.2013978
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发表时间：
2022-03
期刊：
影响因子：
--
通讯作者：
Feudtner C
中科院分区：
文献类型：
--
作者：
Callahan KP;Feudtner C
怀孕期间基因检测的未来可能是什么样子？考虑到在产前基因检测中使用基因检测的模式往往先于产前基因检测的模式，从而预测未来的产前基因检测模式，我们应该期待越来越多地使用广泛的非靶向检测，如全外显子组测序，甚至基因组测序，这在医学上已经成为惯例（NICUSeq研究组等。2021）。详细了解基因检测目前在新生儿临床实践中的作用，引起了对Bayefsky和Berkman（2022）提出的框架的关注。我们同意作者的前提，即越来越多和不受限制地获取遗传信息构成了伦理挑战。然而，我们担心，关于医生应该提供哪些基因检测的建议不会解决这些问题。作者确定医生应该推荐、提供或不提供什么检测的框架取决于一个假设，即我们可以预测基因检测会返回什么信息，因此，我们可以提前决定我们想发现和不想发现哪些信息。这一论点的基础是另外两个假设，即我们有能力只收集对怀孕有用的遗传信息（用于产前检测）或生命早期（对于新生儿测试）而不揭示其他信息，并且医生有能力可靠地从基因型转移到表型，也就是说将特定的遗传结果与预期的结果相关联，包括疾病的严重程度、发病年龄和发育障碍的程度。我们有充分的理由怀疑这三个假设。
What is the future of genetic testing during pregnancy likely to look like? Given that the patterns of use of genetic testing in neonatology tend to precede, and thus predict, patterns of prenatal genetic testing in the future, we should expect the increasing use of broad, non-targeted test, such as whole exome sequencing and even genome sequencing, which in neonatology are becoming routine (NICUSeq Study Group et al. 2021).A detailed look at how genetic testing is currently functioning in clinical practice for neonates raises concerns about the framework proposed here by Bayefsky and Berkman (2022). We agree with the authors’ premise the increasing and unconstrained access to genetic information pose ethical challenges. We worry, though, that recommendations about which genetic tests physicians should offer will not resolve these issues. The authors’ framework for determining what testing physicians should recommend, offer, or not offer hinges on an assumption that we can predict what information will return from a genetic test and thus, in advance, we can decide which information we do and do not want to discover. Fundamental to the argument are two other assumptions, namely that we have the ability to gather only the genetic information that would be useful in pregnancy (for prenatal testing) or early in life (for neonatal testing) without uncovering other information, and that physicians have the ability to move reliably from genotype to phenotype, which is to say associate a particular genetic result with an expected outcome, including severity of disease, age of onset, and extent of developmental disability. There are firm reasons for doubting all three of these assumptions.
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影响因子：
3.3
作者：
Werner-Lin, Allison;McCoyd, Judith L. M.;Bernhardt, Barbara A.
通讯作者：
Bernhardt, Barbara A.
影响因子：
13.4
作者：
Bayefsky, Michelle J.;Berkman, Benjamin E.
通讯作者：
Berkman, Benjamin E.
DOI：
10.1056/nejmoa1609009
发表时间：
2017-02-23
期刊：
The New England journal of medicine
影响因子：
--
作者：
Lopez-Rivera E;Liu YP;Verbitsky M;Anderson BR;Capone VP;Otto EA;Yan Z;Mitrotti A;Martino J;Steers NJ;Fasel DA;Vukojevic K;Deng R;Racedo SE;Liu Q;Werth M;Westland R;Vivante A;Makar GS;Bodria M;Sampson MG;Gillies CE;Vega-Warner V;Maiorana M;Petrey DS;Honig B;Lozanovski VJ;Salomon R;Heidet L;Carpentier W;Gaillard D;Carrea A;Gesualdo L;Cusi D;Izzi C;Scolari F;van Wijk JA;Arapovic A;Saraga-Babic M;Saraga M;Kunac N;Samii A;McDonald-McGinn DM;Crowley TB;Zackai EH;Drozdz D;Miklaszewska M;Tkaczyk M;Sikora P;Szczepanska M;Mizerska-Wasiak M;Krzemien G;Szmigielska A;Zaniew M;Darlow JM;Puri P;Barton D;Casolari E;Furth SL;Warady BA;Gucev Z;Hakonarson H;Flogelova H;Tasic V;Latos-Bielenska A;Materna-Kiryluk A;Allegri L;Wong CS;Drummond IA;D'Agati V;Imamoto A;Barasch JM;Hildebrandt F;Kiryluk K;Lifton RP;Morrow BE;Jeanpierre C;Papaioannou VE;Ghiggeri GM;Gharavi AG;Katsanis N;Sanna-Cherchi S
通讯作者：
Sanna-Cherchi S
影响因子：
8.8
作者：
Char, Danton S.;Lee, Sandra Soo-Jin;Cho, Mildred
通讯作者：
Cho, Mildred
影响因子：
26.1
作者：
NICUSeq Study Group;Krantz ID;Medne L;Weatherly JM;Wild KT;Biswas S;Devkota B;Hartman T;Brunelli L;Fishler KP;Abdul-Rahman O;Euteneuer JC;Hoover D;Dimmock D;Cleary J;Farnaes L;Knight J;Schwarz AJ;Vargas-Shiraishi OM;Wigby K;Zadeh N;Shinawi M;Wambach JA;Baldridge D;Cole FS;Wegner DJ;Urraca N;Holtrop S;Mostafavi R;Mroczkowski HJ;Pivnick EK;Ward JC;Talati A;Brown CW;Belmont JW;Ortega JL;Robinson KD;Brocklehurst WT;Perry DL;Ajay SS;Hagelstrom RT;Bennett M;Rajan V;Taft RJ
通讯作者：
Taft RJ