Evidence map›Paper›PMID 27942444›Full record

ReviewApplied & translational genomics2013

Practical, ethical and regulatory considerations for the evolving medical and research genomics landscape.

Gholson J Lyon, Jeremy P Segal

Abstract readReview
In one paragraph

Review in Applied & translational genomics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

8 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. KBG syndrome involving a single-nucleotide duplication inCold Spring Harbor molecular case studies · 2016
    Article
  5. Article
  6. Mapping the Ethics of Translational Genomics: Situating Return of Results and Navigating the Research-Clinical Divide.The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2015
    Article
  7. Preferences for results delivery from exome sequencing/genome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2014
    Article
  8. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors.

Gholson J LyonStanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, NY, United States; Utah Foundation for Biomedical Research, Salt Lake City, UT, United States.
Jeremy P SegalNew York Genome Center, New York City, NY, United States.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Recent advances in sequencing technology are making possible the application of large-scale genomic analyses to individualized care, both in wellness and disease. However, a number of obstacles remain before genomic sequencing can become a routine part of clinical practice. One of the more significant and underappreciated is the lack of consensus regarding the proper environment and regulatory structure under which clinical genome sequencing and interpretation should be performed. The continued reliance on pure research vs. pure clinical models leads to problems for both research participants and patients in an era in which the lines between research and clinical practice are becoming increasingly blurred. Here, we discuss some of the ethical, regulatory and practical considerations that are emerging in the field of genomic medicine. We also propose that many of the cost and safety issues we are facing can be mitigated through expanded reliance on existing clinical regulatory frameworks and the implementation of distributive work-sharing strategies designed to leverage the strengths of our genomics centers and clinical interpretive teams.

Indexed as

CLIACLIA, Clinical Laboratory Improvements AmendmentsEthicsExomeGenetic testingGenomicsNGS, Next generation sequencingRegulationWGS, whole-genome sequencingWhole genome sequencing

Identifiers

PMID27942444
PMCPMC5133337

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.