The issue of incidental findings in genomics research has been contentious, particularly in whole genome sequencing (WGS) and whole exome sequencing (WES). An incidental or secondary finding has generally been defined as ‘a finding concerning an individual research participant that has potential health or reproductive importance and is discovered in the course of conduct – but is beyond the aims of the study.’ [1]. However, as WGS and WES increasingly enter the clinical realm, these concerns are extended to individually relevant findings that are unrelated to the clinical purpose of sequencing. In May 2012, the American College of Medical Genetics and Genomics (ACMG) released a policy statement on Points to Consider in the Clinical Application of Genomic Sequencing in which they cautioned that ‘when interpreting secondary findings, or results that are generated in the course of screening asymptomatic individuals, it is critical that the standards for what is reportable be high to avoid burdening the health care system and consumers with what could be very large numbers of false positive results’ [2]. As a result, ACMG convened a working group to offer recommendations on handling incidental findings in clinical sequencing.
The Working Group on Incidental Findings in Clinical Exome and Genome Sequencing of the ACMG (‘the Working Group’) published its Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing (‘the recommendations’) in March 2013 [3]. On the one hand, the recommendations take seriously the need to focus incidental findings on only those findings with clear clinical utility and actionable results. They provide a stringently curated list of specific variants that they believe rise to the level of clinical obligation to report. On the other hand, the zeal with which these variants were selected apparently encouraged the Working Group towards recommendations that depart significantly from existing practice and policy. First, they suggest that rather than reporting findings that are incidental to the purpose of the clinical sequencing as ordered, clinical sequencing laboratories have an obligation to seek out actively the variants as listed in the recommendations and include these findings in the clinical report. Second, they do not recommend considering patient preferences in reporting results. That is, all patients (or their guardians) should receive all recommended results whether they desire the information or not. This recommendation specifically includes sequencing on children.
Although we support the desire of the Working Group to honor beneficence by providing patients with information that may affect their future health, we find these recommendations challenging from both an ethical and a practical perspective. Not only do they redefine incidental findings in a problematic manner, but the implication that individual autonomy should be over-ridden by physicians for the patient’s ‘own good’ is weakly supported in modern clinical ethics.
[1]
Beth A. Glenn,et al.
Barriers to genetic testing for breast cancer risk among ethnic minority women: an exploratory study.
,
2012,
Ethnicity & disease.
[2]
Jonathan F. Will.
A brief historical and theoretical perspective on patient autonomy and medical decision making: Part I: The beneficence model.
,
2011,
Chest.
[3]
B. Bernhardt,et al.
Women’s experiences receiving abnormal prenatal chromosomal microarray testing results
,
2012,
Genetics in Medicine.
[4]
C. Moorehead.
All rights reserved
,
1997
.
[5]
S. Fullerton,et al.
Informed Consent in Genome-Scale Research: What Do Prospective Participants Think?
,
2012,
AJOB primary research.
[6]
M. Delatycki,et al.
Predictive genetic testing in minors for late-onset conditions: a chronological and analytical review of the ethical arguments
,
2012,
Journal of Medical Ethics.
[7]
C. McBride,et al.
Participation in Genetic Testing Research Varies by Social Group
,
2010,
Public Health Genomics.
[8]
Marc S. Williams,et al.
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
,
2013,
Genetics in Medicine.
[9]
N. Holtzman,et al.
FACTORS INFLUENCING HEALTH INSURERS' DECISIONS TO COVER NEW GENETIC TECHNOLOGIES
,
2000,
International Journal of Technology Assessment in Health Care.
[10]
Emilie Devries-Seguin.
Population studies: return of research results and incidental findings Policy statement
,
2013
.
[11]
M. Bamshad,et al.
Attitudes of African Americans Toward Return of Results From Exome and Whole Genome Sequencing
,
2013,
American journal of medical genetics. Part A.
[12]
A Cecile J W Janssens,et al.
A tiered-layered-staged model for informed consent in personal genome testing
,
2012,
European Journal of Human Genetics.
[13]
D. L. Doyle,et al.
Billing for Medical Genetics and Genetic Counseling Services: A National Survey
,
2010,
Journal of Genetic Counseling.
[14]
Frances P Lawrenz,et al.
Managing Incidental Findings in Human Subjects Research: Analysis and Recommendations
,
2008,
The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics.