Findings made in gene panel to whole genome sequencing: data, knowledge, ethics - and consequences?
Introduction: Improvements in sequencing technologies have helped to refine diagnosis and patient stratification via molecular genetic testing for a number of conditions. Consequently, sequencing has increasingly entered clinical routine. Reduced cost, combined with enhanced throughput has helped to...
Saved in:
| Main Authors: | , |
|---|---|
| Format: | Article (Journal) |
| Language: | English |
| Published: |
08 Aug 2016
|
| In: |
Expert review of molecular diagnostics
Year: 2016, Volume: 16, Issue: 12, Pages: 1259-1270 |
| ISSN: | 1744-8352 |
| DOI: | 10.1080/14737159.2016.1212662 |
| Online Access: | Verlag, Volltext: http://dx.doi.org/10.1080/14737159.2016.1212662
|
| Author Notes: | Eva C. Winkler and Stefan Wiemann |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1564115259 | ||
| 003 | DE-627 | ||
| 005 | 20220813235352.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 171005s2016 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1080/14737159.2016.1212662 |2 doi | |
| 035 | |a (DE-627)1564115259 | ||
| 035 | |a (DE-576)494115254 | ||
| 035 | |a (DE-599)BSZ494115254 | ||
| 035 | |a (OCoLC)1340980199 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Winkler, Eva C. |d 1971- |e VerfasserIn |0 (DE-588)1055853065 |0 (DE-627)792734823 |0 (DE-576)411905384 |4 aut | |
| 245 | 1 | 0 | |a Findings made in gene panel to whole genome sequencing |b data, knowledge, ethics - and consequences? |c Eva C. Winkler and Stefan Wiemann |
| 264 | 1 | |c 08 Aug 2016 | |
| 300 | |a 12 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 05.10.2017 | ||
| 520 | |a Introduction: Improvements in sequencing technologies have helped to refine diagnosis and patient stratification via molecular genetic testing for a number of conditions. Consequently, sequencing has increasingly entered clinical routine. Reduced cost, combined with enhanced throughput has helped to place sequencing also in the commercial market thus moving beyond particular indications. Diverse kinds of sequencing approaches are applied, ranging from gene panel to whole-genome sequencing. All these have proven successful in the identification of causal and therapeutically relevant alterations to the benefit of patients. However, a number of technical and ethical issues induce challenges that require their appreciation, societal discussion and consensual decision.Areas covered: In the following paper, advantages and disadvantages of different DNA sequencing strategies towards their application within and outside a clinical context are discussed particularly in the light of the incidence and impact genetic findings have at the personal as well as societal level.Expert commentary: We regard the comprehensive education of citizens about these challenges a prerequisite to reach a societal consensus on the exploitation of the huge opportunities while not neglecting the potential and real dangers that are associated with the resulting data. | ||
| 650 | 4 | |a additional findings | |
| 650 | 4 | |a consent | |
| 650 | 4 | |a ethics | |
| 650 | 4 | |a exome sequencing | |
| 650 | 4 | |a gene panel | |
| 650 | 4 | |a genetic variation | |
| 650 | 4 | |a Genome sequencing | |
| 700 | 1 | |a Wiemann, Stefan |e VerfasserIn |0 (DE-588)1105581209 |0 (DE-627)862699134 |0 (DE-576)473627191 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Expert review of molecular diagnostics |d Abingdon : Taylor & Francis Group, 2001 |g 16(2016), 12, Seite 1259-1270 |h Online-Ressource |w (DE-627)355690462 |w (DE-600)2090852-0 |w (DE-576)36671337X |x 1744-8352 |7 nnas |a Findings made in gene panel to whole genome sequencing data, knowledge, ethics - and consequences? |
| 773 | 1 | 8 | |g volume:16 |g year:2016 |g number:12 |g pages:1259-1270 |g extent:12 |a Findings made in gene panel to whole genome sequencing data, knowledge, ethics - and consequences? |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1080/14737159.2016.1212662 |x Verlag |x Resolving-System |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20171005 | ||
| 993 | |a Article | ||
| 994 | |a 2016 | ||
| 998 | |g 1105581209 |a Wiemann, Stefan |m 1105581209:Wiemann, Stefan |d 140000 |e 140000PW1105581209 |k 0/140000/ |p 2 |y j | ||
| 998 | |g 1055853065 |a Winkler, Eva C. |m 1055853065:Winkler, Eva C. |d 910000 |d 910100 |d 50000 |e 910000PW1055853065 |e 910100PW1055853065 |e 50000PW1055853065 |k 0/910000/ |k 1/910000/910100/ |k 0/50000/ |p 1 |x j | ||
| 999 | |a KXP-PPN1564115259 |e 2982784106 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"type":{"media":"Online-Ressource","bibl":"article-journal"},"note":["Gesehen am 05.10.2017"],"physDesc":[{"extent":"12 S."}],"relHost":[{"origin":[{"dateIssuedDisp":"2001-","publisher":"Taylor & Francis Group ; Future Drugs ; Expert Reviews ; Informa Healthcare","publisherPlace":"Abingdon ; London ; London ; London","dateIssuedKey":"2001"}],"pubHistory":["1.2001 -"],"type":{"bibl":"periodical","media":"Online-Ressource"},"disp":"Findings made in gene panel to whole genome sequencing data, knowledge, ethics - and consequences?Expert review of molecular diagnostics","recId":"355690462","physDesc":[{"extent":"Online-Ressource"}],"note":["Gesehen am 03.09.15"],"id":{"zdb":["2090852-0"],"issn":["1744-8352"],"eki":["355690462"]},"language":["eng"],"part":{"extent":"12","year":"2016","pages":"1259-1270","volume":"16","issue":"12","text":"16(2016), 12, Seite 1259-1270"},"title":[{"title":"Expert review of molecular diagnostics","title_sort":"Expert review of molecular diagnostics"}]}],"name":{"displayForm":["Eva C. Winkler and Stefan Wiemann"]},"origin":[{"dateIssuedKey":"2016","dateIssuedDisp":"08 Aug 2016"}],"person":[{"given":"Eva C.","family":"Winkler","display":"Winkler, Eva C.","roleDisplay":"VerfasserIn","role":"aut"},{"roleDisplay":"VerfasserIn","role":"aut","given":"Stefan","family":"Wiemann","display":"Wiemann, Stefan"}],"recId":"1564115259","id":{"doi":["10.1080/14737159.2016.1212662"],"eki":["1564115259"]},"title":[{"title":"Findings made in gene panel to whole genome sequencing","subtitle":"data, knowledge, ethics - and consequences?","title_sort":"Findings made in gene panel to whole genome sequencing"}],"language":["eng"]} | ||
| SRT | |a WINKLEREVAFINDINGSMA0820 | ||