The incidentalome: a threat to genomic medicine.
@article{Kohane2006TheIA,
title={The incidentalome: a threat to genomic medicine.},
author={Isaac S. Kohane and Daniel R. Masys and Russ B. Altman},
journal={JAMA},
year={2006},
volume={296 2},
pages={
212-5
}
}GENOMIC MEDICINE IS POISED TO OFFER A BROAD ARray of new genome-scale screening tests. However, these tests may lead to a phenomenon in which multiple abnormal genomic findings are discovered, analogous to the “incidentalomas” that are often discovered in radiological studies. If practitioners pursue these unexpected genomic findings without thought, there may be disastrous consequences. First, physicians will be overwhelmed by the complexity of pursuing unexpected genomic measurements. Second…
Topics from this paper
302 Citations
Exome and Genome Sequencing and Parallels in Radiology: Searching for Patient-Centered Management of Incidental and Secondary Findings.
- MedicineJournal of the American College of Radiology : JACR
- 2016
An informatics approach to analyzing the incidentalome
- Medicine, BiologyGenetics in Medicine
- 2013
This work implemented for the first time a strategy that utilizes an a priori structured framework and a conservative threshold for selecting clinically relevant incidental findings and predicts that application of this strategy will facilitate pretest informed consent, laboratory analysis, and posttest return of results in a clinical context.
Incidental Findings from Clinical Genome-Wide Sequencing: A Review
- PsychologyJournal of Genetic Counseling
- 2013
The practical considerations, ethical concerns and genetic counseling issues related to IF, with a particular focus on clinical genome-wide sequencing, are discussed.
Implications of the incidentalome for clinical pharmacogenomics.
- MedicinePharmacogenomics
- 2013
It is argued that provisional approaches to managing incidental findings may be implemented if necessary to allow benefits of pharmacogenomic testing to be realized in the clinical setting.
The Human Genome Project, and recent advances in personalized genomics
- MedicineRisk management and healthcare policy
- 2015
Several issues pertinent to health policy are discussed, namely: avoiding the conflation of genetics with biological determinism, resisting the "technological imperative”, due consideration of the organization of screening services, the need for professional education, as well as informed decision making and public understanding.
Reconciling Opportunistic and Population Screening in Clinical Genomics
- MedicineMayo Clinic proceedings
- 2019
Genetics professionals' perspectives on reporting incidental findings from clinical genome‐wide sequencing
- MedicineAmerican journal of medical genetics. Part A
- 2013
This is the first study to document the views of geneticists and genetic counselors in Canada towards the disclosure of IF, and represents a step towards evidence‐based guidelines for clinical genome‐wide sequencing investigations.
Reporting Incidental Findings in Genomic Scale Clinical Sequencing-A Clinical Laboratory Perspective: A Report of the Association for Molecular Pathology.
- MedicineThe Journal of molecular diagnostics : JMD
- 2015
References
SHOWING 1-10 OF 27 REFERENCES
Policy implications of genetic testing: not just for geneticists anymore.
- MedicineAdvances in chronic kidney disease
- 2006
The lack of a coherent oversight system to ensure the quality of tests and testing laboratories, the rise of direct-to-consumer genetic testing, the dearth of professional guidelines to assist the transition of genetic tests from research to medical practice, and the absence of federal legislation to protect the privacy of genetic information and prevent genetic discrimination are highlighted.
Genomic Assessment of Pediatric Acute Leukemia
- BiologyCancer journal
- 2005
Newer techniques, such as single-nucleotide polymorphism arrays to analyze changes in gene copy number and zygosity, cancer genome sequencing, and RNA interference, are promising tools to identify mutations, although at present, data from these approaches are limited.
Generic consent for genetic screening.
- MedicineThe New England journal of medicine
- 1994
Today many adults are offered genetic counseling to help them make reproductive decisions, either before they attempt to achieve a pregnancy or tohelp them decide whether to continue or terminate one.
Microarrays and Crohn's disease: Collecting reliable information
- BiologyScandinavian journal of gastroenterology
- 2005
This article reviews the first published microarray results regarding Crohn’s disease (CD) and intestinal physiology obtained through microarray approaches and suggests that microarray data might lack reliability.
Impact of direct-to-consumer advertising for hereditary breast cancer testing on genetic services at a managed care organization: A naturally-occurring experiment
- MedicineGenetics in Medicine
- 2005
The DTC-ad caused significant increase in demand for cancer genetic services within two Managed Care Organizations and Henry Ford Health System, and providers and payers need to consider the delivery of genetic services and genetic education for persons of all risk levels.
Optimal selection of individuals for BRCA mutation testing: a comparison of available methods.
- Medicine, BiologyJournal of clinical oncology : official journal of the American Society of Clinical Oncology
- 2006
Formal probabilistic models provide significantly greater accuracy in the selection of families for gene testing than the use of clinical criteria or scoring methods.
Assessing controversial direct-to-consumer advertising for hereditary breast cancer testing: reactions from women and their physicians in a managed care organization.
- MedicineThe American journal of managed care
- 2005
The DTC-ad had a marked impact on genetic services, but little apparent negative impact on patients or primary care providers at an MCO.
Expression profiling predicts outcome in breast cancer
- MedicineBreast Cancer Research
- 2002
The predictive capacity of the prognosis classifier cannot be explained by its association with, among other factors, ER status as suggested, and the predictive power of the authors' prognosis reporters may be reduced in an adjuvantly treated patient group.
Facilitating Informed Decision Making about Breast Cancer Risk and Genetic Counseling Among Women Calling the NCI's Cancer Information Service
- MedicineJournal of health communication
- 2005
Results show that the educational intervention reduced intention to obtain genetic testing among women at average risk and increased intention among high-risk women at 6 months, and theoretically designed interventions can be effective in helping women understand their cancer risk and appropriate risk assessment options.
Incidental pituitary lesions in 1,000 unselected autopsy specimens.
- MedicineRadiology
- 1994
PURPOSE
To elucidate the frequency of false-positive results in imaging diagnoses of a functioning pituitary microadenoma, the authors studied various kinds of incidental lesions greater than 2 mm in…