Electronic Resource
Unsolicited findings in next-generation sequencing: Hide or seek
| العنوان: | Unsolicited findings in next-generation sequencing: Hide or seek |
|---|---|
| المؤلفون: | van der Schoot, Vyne |
| بيانات النشر: | Maastricht University 2023 |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | Unsolicited findings in genetic testing are disease causing variants which are unintentionally found. This study showed that a predisposition for a treatable condition can be demonstrated in 2.7% of healthy individuals, while a predisposition was found by chance in <1% of people who received genetic testing. People who had been confronted with an unsolicited finding said not to perceive high impact of the finding. Genetic counselors struggled with which information to disclose about unsolicited findings pre-test. Uncertainty related to unsolicited findings, both empirical and what is right to do, was expressed both by patients and their families as well as by clinical geneticists. This thesis concludes that more knowledge about the meaning of unsolicited findings is needed. Genetic counselors and patients should decide together which findings should be disclosed, led by a dialogue in pre-test counseling. |
| مصطلحات الفهرس: | unsolicited findings, secondary findings, next-generation sequencing, genetic testing, Doctoral Thesis |
| URL: | |
| الاتاحة: | Open access content. Open access content |
| ملاحظة: | DOI: 10.26481/dis.20230531vs English |
| Other Numbers: | NLMAT oai:cris.maastrichtuniversity.nl:publications/aff1d5f4-1e67-4e00-824a-44cc237234bc https://cris.maastrichtuniversity.nl/en/publications/aff1d5f4-1e67-4e00-824a-44cc237234bc 1376706722 |
| المصدر المساهم: | UNIVERSITEIT MAASTRICHT From OAIster®, provided by the OCLC Cooperative. |
| رقم الانضمام: | edsoai.on1376706722 |
| قاعدة البيانات: | OAIster |
| الوصف غير متاح. |