Evidence map›Paper›PMID 25684271›Full record

ArticleThe Journal of molecular diagnostics : JMD2015

Reporting incidental findings in genomic scale clinical sequencing--a clinical laboratory perspective: a report of the Association for Molecular Pathology.

Madhuri Hegde, Sherri Bale, Pinar Bayrak-Toydemir, Jane Gibson, Linda Jo Bone Jeng, Loren Joseph, Jordan Laser, Ira M Lubin, Christine E Miller, Lainie F Ross and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The Journal of molecular diagnostics : JMD, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed, 2 pooled it
–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

30 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Behavioral impact of return of genetic test results for complex disease: Systematic review and meta-analysis.Health psychology : official journal of the Division of Health Psychology, American Psychological Association · 2018
    Pooled it
  3. Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial.Genetics in medicine : official journal of the American College of Medical Genetics · 2018
    Trial
  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. Cost Analyses of Genomic Sequencing: Lessons Learned from the MedSeq Project.Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research · 2018
    Article
  14. Article
  15. Article
  16. Needles, Haystacks and Next-Generation Genetic Sequencing.Health matrix (Cleveland, Ohio : 1991) · 2018
    Article
  17. Article
  18. Towards a Universal Molecular Microbiological Test.Journal of clinical microbiology · 2017
    Review
  19. The Continuing Evolution of Ethical Standards for Genomic Sequencing in Clinical Care: Restoring Patient Choice.The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2017
    Article
  20. 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

14 authors.

Madhuri HegdeIncidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia; Emory Genetics Laboratory, Emory University, Decatur, Georgia. Electronic address: mhegde@emory.edu.
Sherri BaleIncidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; GeneDx, Gaithersburg, Maryland.
Pinar Bayrak-ToydemirIncidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah; Department of Molecular Genetics, ARUP Laboratories, Salt Lake City, Utah.
Jane GibsonIncidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Department of Clinical Sciences, University of Central Florida College of Medicine, Orlando, Florida.
Linda Jo Bone JengIncidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Division of Endocrinology, Diabetes and Nutrition, Department of Medicine, Department of Pathology, and Division of Human Genetics, Department of Pediatrics, University of Maryland School of Medicine, Baltimore, Maryland.
Loren JosephIncidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Department of Pathology, University of Chicago, Chicago, Illinois.
Jordan LaserIncidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Division of Cytogenetics and Molecular Pathology, North Shore Long Island Jewish Health System, New Hyde Park, New York.
Ira M LubinIncidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Division of Laboratory Programs, Standards, and Services, Centers for Disease Control and Prevention, Atlanta, Georgia.
Christine E MillerIncidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Department of Molecular Genetics, ARUP Laboratories, Salt Lake City, Utah.
Lainie F RossIncidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Department of Pediatrics, University of Chicago, Chicago, Illinois; MacLean Center for Clinical Medical Ethics, University of Chicago, Chicago, Illinois.
Paul G RothbergIncidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Department of Pathology and Laboratory Medicine, University of Rochester School of Medicine and Dentistry, Rochester, New York.
Alice K TannerIncidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia; Emory Genetics Laboratory, Emory University, Decatur, Georgia.
Patrik VitazkaIncidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; GeneDx, Gaithersburg, Maryland.
Rong MaoIncidental Findings Working Group of the Association for Molecular Pathology (AMP) Clinical Practice Committee and the Whole Genome Analysis Working Group, Bethesda, Maryland; Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah; Department of Molecular Genetics, ARUP Laboratories, Salt Lake City, Utah.

Funding

Re-Engineering Translational Research at the University of ChicagoUL1TR000430 · NCATS · UNIVERSITY OF CHICAGO · PI SOLWAY, JULIAN · 2012 to 2016
$20.2M
NCATS NIH HHS UL1 TR000430
6 · The paper itself

Abstract

Advances in sequencing technologies have facilitated concurrent testing for many disorders, and the results generated may provide information about a patient's health that is unrelated to the clinical indication, commonly referred to as incidental findings. This is a paradigm shift from traditional genetic testing in which testing and reporting are tailored to a patient's specific clinical condition. Clinical laboratories and physicians are wrestling with this increased complexity in genomic testing and reporting of the incidental findings to patients. An enormous amount of discussion has taken place since the release of a set of recommendations from the American College of Medical Genetics and Genomics. This discussion has largely focused on the content of the incidental findings, but the laboratory perspective and patient autonomy have been overlooked. This report by the Association of Molecular Pathology workgroup discusses the pros and cons of next-generation sequencing technology, potential benefits, and harms for reporting of incidental findings, including the effect on both the laboratory and the patient, and compares those with other areas of medicine. The importance of genetic counseling to preserve patient autonomy is also reviewed. The discussion and recommendations presented by the workgroup underline the need for continued research and discussion among all stakeholders to improve our understanding of the effect of different policies on patients, providers, and laboratories.

Indexed as

Incidental FindingsGenetic CounselingHigh-Throughput Nucleotide SequencingHumansPathology, Molecular

Identifiers

PMID25684271
PMCPMC5707203

What OpenQuestion holds

Textmetadata
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.